Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A ... meets with you to discuss genetic risks. The counseling may be for yourself or a family member. ...
... been added to your dashboard . KEY POINTS Genetic counseling helps you understand how genes, birth defects and medical ... in your area. What is genetic counseling? Genetic counseling helps you understand how genes , birth defects and other ...
Pina-Neto, João Monteiro de
The objective of this review of genetic counseling (GC) is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family. The concepts presented are based on an historical synthesis of the literature on GC since the 1930s until today, and the articles cited represent the most important research published which today provides the foundation for the theory and practice of GC. The modern definition of GC is a process of communication that deals with the human problems related with the occurrence of a genetic disease in a family. It is of fundamental importance that health professionals are aware of the psychological aspects triggered by genetic diseases and the ways in which these can be managed. In the field of human and medical genetics we are still living in a phase in which technical and scientific aspects predominate, with little emphasis on the study of emotional reactions and people's processes of adaptation to these diseases, which leads to clients having a low level of understanding of the events that have taken place, with negative consequences for family life and for society. The review concludes by discussing the need to refer families with genetic diseases for GC and the need for professionals working in this area to invest more in humanizing care and developing non-directive psychological GC techniques.
Lee, Jihyoun; Cho, Hyung Jung; Yoo, Han-Wook; Park, Sue K.; Yang, Jae Jeong; Kim, Sung-Won; Kang, Eunyoung; Ahn, Sei-Hyun; Lee, Soo-Jung; Suh, Young Jin; Kim, Sung Yong; Kim, Eun-Kyu; Moon, Nan Mo
Purpose Systematic educational programs and genetic counseling certification courses for hereditary breast/ovarian cancer (HBOC) have not yet been introduced in Korea. We provided and evaluated the effects of genetic counseling education on Korean healthcare providers' knowledge, awareness, and counseling skills for patients at high risk of HBOC. Methods A 3-day educational program was conducted for healthcare providers who were interested in genetic counseling for patients at high risk of HBOC. Participants who completed a knowledge test and satisfaction questionnaire were included in the present sample. Pre-post comparisons were conducted to determine the effects of the intervention. Results Significant differences between preprogram and postprogram knowledge scores were observed (p=0.002). Awareness (pcounseling significantly increased after the training. Doctors and participants with fewer years of work experience performed well on the knowledge test. Previous educational experience was correlated with increased confidence in knowledge and counseling skills. Conclusion Genetic counseling education regarding HBOC improved knowledge and awareness of HBOC and enhanced confidence in the counseling process. The effects varied according to occupation and participants' previous education. The implementation of systematic educational programs that consider participant characteristics may improve the effects of such interventions. PMID:24155764
... MF, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice . 7th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 30. Review Date 1/25/2016 Updated by: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare ...
... and their families. Clinical Geneticists Clinical geneticists are medical doctors with special training in genetics. In addition to educating families about genetic conditions, they perform clinical exams and order lab tests to diagnose the causes ...
... Safe Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's ... how can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating ...
Albada, Akke; van Dulmen, Sandra; Otten, Roel; Bensing, Jozien M; Ausems, Margreet G E M
This article describes the stepwise development of the website 'E-info gene(ca)'. The website provides counselees in breast cancer genetic counseling with computer-tailored information and a question prompt prior to their first consultation. Counselees generally do not know what to expect from genetic counseling and they tend to have a passive role, receiving large amounts of relatively standard information. Using the "intervention mapping approach," we developed E-info gene(ca) aiming to enhance counselees' realistic expectations and participation during genetic counseling. The information on this website is tailored to counselees' individual situation (e.g., the counselee's age and cancer history). The website covers the topics of the genetic counseling process, breast cancer risk, meaning of being a carrier of a cancer gene mutation, emotional consequences and hereditary breast cancer. Finally, a question prompt encourages counselees to prepare questions for their genetic counseling visit.
Margarit, Sonia B; Alvarado, Mónica; Alvarez, Karin; Lay-Son, Guillermo
In the South American Republic of Chile genetic counseling is not currently recognized as an independent clinical discipline, and in general is provided by physicians with training in clinical genetics. At present only one genetic counselor and 28 clinical geneticists practice in this country of over 16 million inhabitants. Pediatric dysmorphology constitutes the primary area of practice in clinical genetics. Although the country has a universal health care system and an adequate level of health care, genetic conditions are not considered a health care priority and there is a lack of clinical and laboratory resources designated for clinical genetics services. Multiple educational, cultural and financial barriers exist to the growth and development of genetic counseling services in Chile. However, during the last 10 years increased awareness of the importance of identifying individuals at risk for inherited cancer syndromes led to growing interest in the practice of cancer genetics.
Albada, A.; Dulmen, S. van; Otten, R.; Bensing, J.M.; Ausems, M.G.E.M.
This article describes the stepwise development of the website ‘E-info geneca’. The website provides counselees in breast cancer genetic counseling with computer-tailored information and a question prompt prior to their first consultation. Counselees generally do not know what to expect from genetic counseling and they tend to have a passive role, receiving large amounts of relatively standard information. Using the “intervention mapping approach” we developed E-info geneca aiming to enhance ...
Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V.; van Langen, Irene M.
Telemedicine applications are increasingly being introduced in patient care in various disciplines, including clinical genetics, mainly to increase access to care and to reduce time and costs for patients and professionals. Most telegenetics reports describe applications in large geographical areas,
Albada, A.; Dulmen, S. van; Otten, R.; Bensing, J.M.; Ausems, M.G.E.M.
This article describes the stepwise development of the website ‘E-info geneca’. The website provides counselees in breast cancer genetic counseling with computer-tailored information and a question prompt prior to their first consultation. Counselees generally do not know what to expect from genetic
Ioannides, Adonis S
Identifying individuals at risk of having children affected by genetic conditions or congenital anomalies allows counselling that aims to inform reproductive decisions. This process takes place either at the preconception or early prenatal stage, although more options are available if risks are identified before the pregnancy. Preconception counselling covers issues that can affect the health of the mother and baby including folic acid supplementation. Carrier screening for autosomal recessive diseases, such as beta thalassaemia, has resulted in a significantly reduced incidence in many countries. National organisations, however, advocate more in-depth research before such screening recommendations apply to the general population. Recently, advances in genomic technologies have made it possible to greatly expand the scope of genetic screening, with the aim of providing more comprehensive information to prospective parents. This is a complex field, and research should focus on how the technology can be put to best use in the future. Copyright © 2017. Published by Elsevier Ltd.
Clinical geneticists and genetic counselors provide diagnosis and counseling for genetic disorders affecting every organ system and every age group. Genetic counselors are more focused on informing patients and families about the inheritance of a genetic disorder and providing recurrence risk counseling, support and information about a diagnosis and reproductive options. Medical geneticists may also share some of these roles in addition to establishing a diagnosis and providing medical management. Medical Geneticists receive training in ACGME-accredited residency programs and are certified by the American Board of Medical Genetics. Genetic counseling is a masters degree program and certification is granted by the American Board of Genetic Counseling. When a patient/family is referred to a Clinical Geneticist, they may expect a thorough evaluation in an effort to establish a diagnosis that may provide information about etiology, prognosis, therapy and recurrence risk. Copyright © 2011 S. Karger AG, Basel.
mother allegedly mistreated for preeclampsia at Tripler Army Medical Center could maintain an action for medical malpractice nothwithstanding Feres.1 2...perinatologists at most military hospitals perform genetic counseling. Due to their primary responsibilities fo management of high risk pregnancies
Stein, Stephanie A.; Maloney, Kristin L.; Pollin, Toni I.
Most diabetes is polygenic in etiology, with (type 1 diabetes, T1DM) or without (type 2 diabetes, T2DM) an autoimmune basis. Genetic counseling for diabetes generally focuses on providing empiric risk information based on family history and/or the effects of maternal hyperglycemia on pregnancy outcome. An estimated one to five percent of diabetes is monogenic in nature, e.g., maturity onset diabetes of the young (MODY), with molecular testing and etiology-based treatment available. However, recent studies show that most monogenic diabetes is misdiagnosed as T1DM or T2DM. While efforts are underway to increase the rate of diagnosis in the diabetes clinic, genetic counselors and clinical geneticists are in a prime position to identify monogenic cases through targeted questions during a family history combined with working in conjunction with diabetes professionals to diagnose and assure proper treatment and familial risk assessment for individuals with monogenic diabetes. PMID:25045596
[7-10] Genetic counseling increases the accuracy of risk perception, decreases intention for mutation testing among women who are unlikely carriers, and decreases cancer-related worry, anxiety, and depression.. Genetic testing has the potential to provide information about cancer risk, thereby significantly contributing to ...
... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Jan 19,2018 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...
Harris, Anna; Kelly, Susan E; Wyatt, Sally
Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics' concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics.
Posch, Angela; Springer, Stephanie; Langer, Martin; Blaicher, Wibke; Streubel, Berthold; Schmid, Maximilian
To evaluate the prevalence of consanguineous patients at a Western European prenatal genetic counseling clinic and to describe demographic as well as health-related characteristics of this patient group. Retrospective analysis of 1964 primary consultations at the Prenatal Genetic Counseling Outpatient Clinic at the Medical University of Vienna General Hospital in Austria. Characteristics of consanguineous patients were compared with those of a control group of not-related unions. A total of 8.9% (174/1964) of all patients lived in a consanguineous union, meaning they were related as second cousin or closer [78.7% (137/174) first cousin, 14.4% (25/174) second cousin, 6.3% (11/174) first cousin once removed or 0.6% (1/174) uncle/niece]. Consanguineous patients were significantly younger (26.6 ± 5.4 vs 30.4 ± 6.5, p consanguinity (ICD Z84.3) in 31.6% (55/174) of cases. Estimations of the prevalence of consanguinity among the general population in Western Europe likely highly underestimate the evaluated prevalence among patients referred for prenatal genetic counseling. Counseling strategies need to take into consideration that consanguineous patients are more likely to be young and have an immigrant background. © 2012 John Wiley & Sons, Ltd.
Lewis, Linwood J
This theoretical paper examines challenges to multicultural genetic counseling, counseling between culturally different clients and counselors, in the context of Kessler's typology of models of genetic counseling (Kessler S (1997) J Genet Counsel 6:287-295). It is suggested that challenges such as resistance to multicultural genetic counseling education may be due to conceptions about genetic counseling as a biomedical field that transcends questions of culture as well as lack of multicultural training or prejudice. Directions for future research and recommendations for multicultural genetic counseling education are briefly explored.
Tsuang, D W; Faraone, S V; Tsuang, M T
Like other medical conditions, some psychiatric disorders are inherited, whereas others are not. Human genetics research is moving at a rapid pace. Genes for over 450 genetic disorders have been cloned and many disease-causing mutations have also been identified. The explosion of this new knowledge has created many new exciting opportunities in the diagnosis of these heritable disorders. The rapid pace of gene discovery will aid the identification of susceptibility genes for psychiatric disorders. Indeed, we can look forward to answers to many clinical and research questions. These are some of the gifts that the expanding field of human genetics research will continue to bring to medical science. However, as genetic tests for the detection of psychiatric disorders become available, many ethical, legal, and social implications will need to be considered. In this article, we review the principles of genetic counseling for psychiatric disorders, as well as the social and ethical dilemmas that genetic testing may bring. Although medical and scientific advances may bring many gifts, we should approach this new knowledge with caution, as one of the gifts may be a Pandora's box.
Genetic counselors are trained health care professionals who effectively integrate both psychosocial counseling and information-giving into their practice. Preparing genetic counseling students for clinical practice is a challenging task, particularly when helping them develop effective and active counseling skills. Resistance to incorporating these skills may stem from decreased confidence, fear of causing harm or a lack of clarity of psycho-social goals. The author reflects on the personal challenges experienced in teaching genetic counselling students to work with psychological and social complexity, and proposes a Genetic Counseling Adaptation Continuum model and methodology to guide students in the use of advanced counseling skills.
This article provides an empirical account of the application of genetic counselling in China based on interviews, clinical observation and literature research during a field study from September 2008 to February 2009, carried out mainly in China and partly in Hong Kong and the United Kingdom.
Various definitions of genetic counselling and roles were examined; a typical structure was described following a model guideline of pre and post-test counselling. An illumination into vital aspect of family history, pedigree development and its relevant to health care providers especially nurses was also provided.
Meldrum, Candice; Scott, Charles; Swoboda, Kathryn J.
Spinal muscular atrophy is characterized by degeneration of α motor neurons in the anterior horns of the spinal cord, which leads to progressive symmetrical muscle weakness and atrophy. Spinal muscular atrophy is the leading fatal autosomal recessive disorder in infancy, and genetic counseling is an essential component of the care of families of these patients. However, little guidance is available in the published literature regarding the process and benefit of genetic counseling for families. Accordingly, the authors designed a questionnaire to assess parents’ knowledge of the disease, gauge their access to genetic counseling, and determine how parents use information gained from counseling to guide choices for future pregnancies. The questionnaire specifically targeted when genetic counseling was received, from whom, parental knowledge regarding spinal muscular atrophy genetics, parental choices regarding spinal muscular atrophy and their child, frequency of prenatal testing, perceived relevance of newborn screening, and opinions regarding the disease. Most families clearly received some type of genetic counseling. Yet how and from whom they received the information varied greatly, as did their genetic knowledge of spinal muscular atrophy. The highest percentage of families received counseling from neurologists, who may not be appropriately prepared to provide formal genetic counseling. Many respondents reported having a negative experience with genetic counseling, possibly because it occurred at the time of diagnosis or shortly afterward, a period of great emotional turmoil. These data suggest that a consistent approach for facilitating how and when genetic counseling is received is greatly needed. PMID:17761658
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Rust, Laura; Adamsheck, Hallee; Reiser, Catherine A; Petty, Elizabeth M
Genetic counselors are trained to provide personalized genetic information and support to clients and their families. When requests for counseling comes from the counselor's own family member, should that counselor still provide service? There is a paucity of literature regarding genetic counselors counseling their own family members and no specific recommendations regarding how to reply to requests for genetic information from relatives. The purpose of this mixed methods study was to report genetic counselors' and genetic counseling students' perspectives and experiences providing genetic counseling to relatives. In the present study, 423 genetic counselors and genetic counseling students completed a 70-item web-based survey that explored genetic counselors' experiences counseling family members outside of a clinic setting. The majority (73%; n = 301/410) of respondents have been asked to provide genetic counseling. Over half (57%; n = 257/423) provided counseling, personalized genetic information or risk assessment to family members. Only a small fraction of respondents (11%; n = 45/420) responded that they received any formal training in their graduate education, or in any other capacity that addressed the issue of how genetic counselors should respond to genetic counseling requests made family members. Those who have were less likely to provide genetic counseling to a family member (p members.
Witmer, J. Melvin; And Others
Genetic counseling assists people in identifying potential or manifest genetic problems, understanding their implications, making decisions about what course to follow, and working through psychological and social aspects as they affect individuals or couples. Four ethical principles and related ethical issues pertaining to autonomy, beneficence…
Home; Journals; Journal of Biosciences; Volume 40; Issue 2. Social and cultural issues in genetic counselling. Meenakshi Bhat. Perspectives Volume 40 Issue 2 June 2015 pp 217-220. Fulltext. Click here to view fulltext PDF. Permanent link: http://www.ias.ac.in/article/fulltext/jbsc/040/02/0217-0220. Keywords. Genetic ...
Full Text Available Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic trisomy 13.
Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocent...
With the evolution of medical genetics to focus on highly prevalent, multifactorial conditions, it is inevitable that genetic counselors will be called upon to participate in the evaluation and counseling of individuals with inherited thrombophilia. The purpose of this review is to educate the genetic counselor on key issues related to risk assessment and genetic counseling for hereditary thrombophilia. The information contained in this document is derived from an extensive review of the literature, as well as the author's personal expertise. Upon completion of this review, the genetic counselor will be able to: a) describe inherited and acquired risk factors for thrombosis, b) collect and interpret personal and family histories to assess risk related to hereditary thrombophilia, c) discuss the potential advantages and disadvantages of thrombophilia testing, including psychosocial aspects and implications for medical management, and d) identify educational and support resources for patients and families.
Girerd, Barbara; Montani, David; Jaïs, Xavier; Eyries, Mélanie; Yaici, Azzedine; Sztrymf, Benjamin; Savale, Laurent; Parent, Florence; Coulet, Florence; Godinas, Laurent; Lau, Edmund M; Tamura, Yuichi; Sitbon, Olivier; Soubrier, Florent; Simonneau, Gérald; Humbert, Marc
...) have been identified, leading to a growing need for genetic counselling.Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary...
Modell, Bernadette; Darr, Aamra
Consanguineous marriage is customary in many societies, but leads to an increased birth prevalence of infants with severe recessive disorders. It is therefore often proposed that consanguineous marriage should be discouraged on medical grounds. However, several expert groups have pointed out that this proposal is inconsistent with the ethical principles of genetic counselling, overlooks the social importance of consanguineous marriage and is ineffective. Instead, they suggest that the custom increases the possibilities for effective genetic counselling, and recommend a concerted effort to identify families at increased risk, and to provide them with risk information and carrier testing when feasible.
Brannigan RE. Male infertility : perceptions, utility, and satisfaction with genetic counseling services. Fertil Steril 2003;80:52.  Tercyak KP, Johnson...numerous arenas of genetic counseling, ranging from male infertility  to pregnant women’s satisfaction with prenatal genetic counseling . Recent
Genetic counselling is provided in places where genetic tests are carried out. The process involves pre-test counselling as well as post-test counselling to enable the individuals to face the situation and take appropriate decisions with the right frame of mind. Major ethical principles which govern the attitudes and actions of counsellors include: respect for patient autonomy, non-maleficence, beneficence, or taking action to help benefit others and prevent harm, both physical and mental, and justice, which requires that services be distributed fairly to those in need. Other moral issues include veracity, the duty to disclose information or to be truthful, and respect for patient confidentiality. Nondirective counselling, a hallmark of this profession, is in accordance with the principle of individual autonomy. High prevalence of haemoglobinopathies with availability of good and sensitive carrier detection tests and prenatal diagnostic techniques makes these good candidates for population screening of carriers along with genetic counselling for primary prevention of the disease. Screening of the extended family members of the affected child, high risk communities and general population screening including antenatal women are the main target groups for planning a Haemoglobinopathy control programme. A critical mass of trained genetic counsellors who have understanding of the ethical issues and its appropriate handling with the required sensitivity is needed in India.
With the expansion of novel chromosome testing, a career as a certified genetic counselor has been gathering a lot of attention. However, few people certified as a genetic counselor after completing postgraduate courses are able to find employment as a genetic counselor, and their salaries are quite low. It is also questionable whether or not such newly graduated genetic counselors, who have limited life experience and knowledge, can fully understand family issues and properly perform counseling sessions. To address these issues, a wide range of education and training may be necessary. In this study, we examined current problems in genetic counseling education in Japan, and proposed effective measures to address these problems. Toward creating a new society, we are currently establishing a national qualification system and cultivating qualified professionals capable of providing patients with accurate information on chromosome and genetic testing. In addition, these professionals could encourage younger generations to have an interest in genetic counseling. I also hope that these professionals will work not only in Japan but all over the world.
Tomatir, Ayse Gaye; Sorkun, Hülya Cetin; Demirhan, Huriye; Akdag, Beyza
All over the world, the increased awareness of the importance of early diagnosis of genetic diseases has given them priority in primary health care. However, more recent surveys indicate that genetics content is still lacking in nursing curricula. This survey aimed to measure the current status of primary care nurses' knowledge about genetics and genetic counseling, and the educational needs of nurses related to human genetics in the Denizli region of Turkey. This area in western Turkey has an 11.7% rate of consanguineous marriages; about 3.5% of the population are hemoglobinopathies carrier and 3.2% are thalassemia carriers. Data were collected on forms that aimed to obtain information about nurses' approaches to genetics and genetic counseling. A total of 86 of 106 nurses working in Denizli province returned the questionnaire (response rate of 81.1%). Phenylketonuria, at 61.5%, and Cooley's anemia, at 60.0%, were identified as the subjects these nurses were most knowledgeable about in terms of genetic disorders. A high percentage of nurses admitted they had insufficient knowledge about the genetic basis of diseases (96.4%), inheritance patterns (98.9%), ethical and legal issues (100.0%), genetic counseling (100.0%), gene testing (95.9%), and genetic engineering (97.9%). About 67% of nurses stated they would like to attend a training course on these subjects. As a result of this study a genetics course is planned for nurses so they can actively participate in the prevention and early diagnosis of genetic diseases.
Given the increasing availability and complexity of genetic testing, it is imperative that the practicing obstetrician-gynecologist or other health care provider has a firm comprehension of the benefits, limitations, and risks of offering a specific genetic test, as well as the importance of appropriate pretest and posttest counseling. The purpose of this Committee Opinion is to provide an outline of how obstetrician-gynecologists and other health care providers can best incorporate these tests into their current practices and provide appropriate pretest and posttest counseling to patients. Obstetrician-gynecologists and other health care providers should determine which tests will be offered as the standard in their practices so that similar testing strategies are made available to all patients. Practices should have procedures in place that ensure timely disclosure of test results to patients. As with any medical test, expectations regarding the performance of a genetic test should be discussed with the patient before the test is ordered. After counseling, patients should have the option to decline any or all testing. Pretest and posttest counseling should be done in a clear, objective, and nondirective fashion, which allows patients sufficient time to understand information and make informed decisions regarding testing and further evaluation or treatment. In addition to counseling each patient about her own personal risk, obstetrician-gynecologists and other health care providers should counsel patients regarding the risk for family members, including their potential to have affected offspring.
Given the increasing availability and complexity of genetic testing, it is imperative that the practicing obstetrician-gynecologist or other health care provider has a firm comprehension of the benefits, limitations, and risks of offering a specific genetic test, as well as the importance of appropriate pretest and posttest counseling. The purpose of this Committee Opinion is to provide an outline of how obstetrician-gynecologists and other health care providers can best incorporate these tests into their current practices and provide appropriate pretest and posttest counseling to patients. Obstetrician-gynecologists and other health care providers should determine which tests will be offered as the standard in their practices so that similar testing strategies are made available to all patients. Practices should have procedures in place that ensure timely disclosure of test results to patients. As with any medical test, expectations regarding the performance of a genetic test should be discussed with the patient before the test is ordered. After counseling, patients should have the option to decline any or all testing. Pretest and posttest counseling should be done in a clear, objective, and nondirective fashion, which allows patients sufficient time to understand information and make informed decisions regarding testing and further evaluation or treatment. In addition to counseling each patient about her own personal risk, obstetrician-gynecologists and other health care providers should counsel patients regarding the risk for family members, including their potential to have affected offspring.
João Monteiro de Pina-Neto
Full Text Available OBJETIVO: Esta revisão sobre aconselhamento genético (AG teve o objetivo de mostrar os conceitos atuais e os princípios filosóficos e éticos aceitos na grande maioria dos países e recomendados pela Organização Mundial da Saúde, as fases do processo, seus resultados e o impacto psicológico de uma doença genética em uma família. FONTES DOS DADOS: Os conceitos apresentados são baseados em uma síntese histórica da literatura sobre AG desde a década de 1930 até o momento atual, sendo que os artigos citados representam os principais trabalhos publicados e que hoje fundamentam a teoria e a prática do AG. SÍNTESE DOS DADOS: O AG modernamente é definido como um processo de comunicação que trata dos problemas humanos relacionados à ocorrência de uma doença genética em uma família. É fundamental que os profissionais da saúde conheçam os aspectos psicológicos desencadeados pela doença genética e como estes aspectos podem ser manejados. Vivemos ainda na genética humana e médica uma fase de predomínio dos aspectos técnicos e científicos e de pouca ênfase no estudo das reações emocionais e dos processos de adaptação das pessoas a estas doenças, o que leva ao baixo entendimento dos clientes sobre os fatos ocorridos, com conseqüências negativas sobre a vida familiar e para a sociedade. CONCLUSÕES: Conclui-se pela necessidade de que as famílias com doenças genéticas sejam encaminhadas para AG e que os profissionais desta área invistam mais na humanização do atendimento, desenvolvendo mais as técnicas do AG psicológico não-diretivo.OBJECTIVE: The objective of this review of genetic counseling (GC is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family. SOURCES: The concepts presented are
Padmalayam, Prajod; Balan, Preethi; Sapkal, Rashmi
Cockayne's Syndrome (CS) is a rare autosomal recessive disorder characterized by deficiency in the transcription-couple DNA repair pathway caused by mutations in the genes ERCC6 in 65% of individuals and ERCC8 in 35% of individuals. Here we report a rare case of Cockayne's syndrome in a girl who presented with hallmark features specific to the syndrome. Dissemination of our knowledge about clinical manifestations encountered in Cockayne syndrome is instrumental not only for early evaluation and treatment to prolong life expectancy, but also to initiate early genetic counselling with parents concerning future pregnancies.
Background: Recent genetic findings have led to profound changes in genetic and family counselling for schizophrenia patients and their families. Objectives: The article gives an overview of the present knowledge regarding the genetic and family counselling for schizophrenia. Method: Literature searches were performed ...
Background: Although cystic fibrosis (CF) is a common genetic condition, genetic counselling services appear to be underutilised by affected families. The aim of this study was to determine the uptake of genetic counselling and mutation testing for CF by relatives of affected individuals, and the impact of introducing ...
The aim of this paper is to work out the relationship between ethics and practice with reference to genetic counselling. First, the most important principles with respect to genetic counselling and to counsellor-client-interaction, are explained briefly. Then, we discuss what these principles might mean, when applied to the practice of counselling. To do so, we also look at some empirical data. Finally, we draw some conclusions.
A descriptive analysis of reported cases of sickle cell disease and the level of awareness about genetic counseling in 30 hospitals were carried out. Additionally, 150 individuals between ages 16 - 45 were randomly selected for evaluation of genetic counselling awareness. The main tools for this study were questionnaires, ...
Horváth, Emese; Nagy, Nikoletta; Széll, Márta
In recent decades methods used for the investigation of the genetic background of rare diseases showed a great improvement. The aim of the authors was to demonstrate difficulties of genetic counselling and investigations in case of five rare, mainly neurogenetic diseases. During pre-test genetic counselling, the disease suspected from the clinical symptoms and the available genetic tests were considered. During post-test genetic counselling, the results of the genetic tests were discussed. In three of the five cases genetic tests identified the disease-causing genetic abnormalities, while in two cases the causative abnormalities were not identified. Despite a great improvement of the available genetic methods, the causative genetic abnormalities cannot be identified in some cases. The genetic counsellor has a key role in the assessment and interpretation of the results and in helping the family planning.
Atherton, Andrea M; Day-Salvatore, Debra
An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient's health care team so they can make informed decisions. In addition to providing important information about the inheritance and genetic risks, genetic counseling also provides information about Pompe disease and available treatments and resources and should be offered to families with an affected child and all adults diagnosed with Pompe disease. Although the need for genetic counseling after a positive newborn screen for Pompe disease is recognized, the role that genetic counseling plays for both families of affected patients and health care teams is not fully understood. Consistent best genetic counseling practices also are lacking. The guidance in this article in the "Newborn Screening, Diagnosis, and Treatment for Pompe Disease" supplement is derived from expert consensus from the Pompe Disease Newborn Screening Working Group. It is intended to help guide genetic counseling efforts and provide a clear understanding of the role for families or carriers of Pompe disease identified through NBS; explain special considerations (eg, diagnosis of late-onset Pompe disease before the appearance of symptoms) and the impact and implications associated with a diagnosis (eg, determination of genetic risk and carrier status and preconception counseling); and provide health care teams caring for patients with a framework for a standardized approach to genetic counseling for patients and at-risk family members. Copyright © 2017 by the American Academy of Pediatrics.
Lynch, H T; Lynch, J
Lynch syndrome is the most common hereditary form of colorectal cancer (CRC). Its natural history has been investigated extensively, so that highly targeted surveillance and management strategies, melded to its natural history, have proven effective in cancer control. Most important is the early age of onset of cancer (approximately 44 years), involving CRC and the several extracolonic cancers that are integral to the syndrome. With respect to CRC, approximately 70% of cases occur proximal to the splenic flexure. Synchronous and metachronous CRCs are extremely common. Full colonoscopy should be initiated when the patient is between the ages of 20 and 25, and because of the accelerated carcinogenesis of CRC, it should be performed every 1 to 2 years. The presence of initial CRC requires subtotal colectomy, given the mentioned increased frequency of metachronous cancer. Options available for germ-line mutation carriers, in addition to cancer screening, include prophylactic colectomy as well as prophylactic total abdominal hysterectomy and bilateral salpingo-oophorectomy. The discovery of mismatch repair germ-line mutations (most commonly MSH2 or MLH1) has added significantly to the recognition of this disease as well as to the search for high-risk individuals throughout families who, with genetic counseling, may become candidates for germ-line mutation testing. Clearly, hereditary nonpolyposis colorectal cancer provides an excellent opportunity for learning about the etio-pathogenesis of cancer at the molecular and clinical levels and how this knowledge might ultimately be exploited for cancer control. A search for chemoprevention agents, such as cyclo-oxygenase 2 inhibitors, as well as for putative environmental effects and how they may interact with the genetic component in CRC etiology should abet this entire cancer control process.
Lewis, Katie L; Erby, Lori A H; Bergner, Amanda L; Reed, E Kate; Johnson, Maria R; Adcock, Jessica Y; Weaver, Meredith A
Supervision is a practice that is utilized by a variety of practitioners to hone their counseling skills. Genetic counselors have embraced the supervision process, and some seek out supervision in a group setting with peers. Researchers have described the structure and content of genetic counseling peer supervision groups, and provided evidence for the benefits of seeking peer supervision. This study aimed to describe the interpersonal aspects of one genetic counseling peer supervision group, including personality traits and group dynamics, and how those factors influenced our experiences within the group. We also describe how the process of evaluating these factors impacted us individually and collectively. There was consensus that the group was a safe and trusting one, which was united by similar goals and mutual respect. Members reported gaining insights about how their own personality functioned within the group milieu, and also how the group setting impacted them. Based on our experiences, we recommend that other peer supervision groups consider similar self-evaluations on a periodic basis, both to enhance group functioning and to allow for increased self-awareness and professional growth.
Rebecca L. Collins
Full Text Available The objective was to assess the effectiveness of a smoking cessation educational program on pediatric residents' counseling. Residents were randomly selected to receive the intervention. Residents who were trained were compared to untrained residents. Self-reported surveys and patient chart reviews were used. Measures included changes in self-reported knowledge, attitudes and behaviors of residents, and differences in chart documentation and caretaker-reported physician counseling behaviors. The intervention was multidimensional including a didactic presentation, a problem-solving session, clinic reminders, and provision of patient education materials. Results showed that residents who were trained were more likely to ask about tobacco use in their patients' households. They were also more likely to advise caretakers to cut down on or to quit smoking, to help set a quit date, and to follow up on the advice given at a subsequent visit. Trained residents were more likely to record a history of passive tobacco exposure in the medical record. These residents also reported improved confidence in their counseling skills and documented that they had done such counseling more often than did untrained residents. Caretakers of pediatric patients who smoke seen by intervention residents were more likely to report that they had received tobacco counseling. Following this intervention, pediatric residents significantly improved their behaviors, attitudes, and confidence in providing smoking cessation counseling to parents of their pediatric patients.
Chen, Christina; Greb, Anne; Kalia, Isha; Bajaj, Komal; Klugman, Susan
Intimate partner violence (IPV) is a major health concern in the United States (ACOG 2013). The World Health Organization (WHO) describes IPV as any physical, sexual, psychological harm by a current or former intimate partner (WHO 2016). Due to the psychosocial depth and nature of discussions within genetic counseling sessions, patients may disclose and/or discuss IPV as it relates to sexual well-being, reproductive and overall health. This study aims to assess the role for IPV screening, counseling and intervention in genetic counseling practice by investigating the incidence, experiences and attitudes about IPV among genetic counseling patients. Patients receiving genetic counseling at an urban metropolitan hospital were anonymously surveyed about experiences and perspectives on IPV as a topic of discussion during genetic counseling sessions. Among 60 eligible patients, 50 completed the survey (49 females, 1 male, of which, 5 identified as LGBT) ages 20 to 66. The incidence of IPV in this group was 16.0 % (n = 8). Majority of participants had never been asked about IPV by a healthcare provider (n = 32; 64.0%), would have felt comfortable answering questions about IPV by their healthcare provider (n = 34; 68.0%), and would have felt comfortable answering questions about IPV by their genetic counselor (n = 39; 78.0%). Perspectives from all participants, notably those with IPV history, provided insights to the role of genetic counselors in areas for IPV screening and counseling training.
Kolak, Mia; Jensen, Carina; Johansson, Marianne
To describe midwives' experiences of providing contraception counselling to immigrant women. The study was conducted with a qualitative design, based on interviews followed by inductive content analysis. Ten midwives were interviewed, working at midwife-led prenatal clinics in immigrant-dense areas in southern Sweden. Midwives require knowledge and understanding of cultures and religions in order to provide contraception counselling to immigrant women. It is important for the midwives to be aware that women have different values regarding sexual and reproductive health. The challenge for the midwives is to understand and to be curious about every woman's lifeworld perspective, culture and religion. The midwives knowledge and understanding of cultures and religions is acquired through experience and shared between them. Knowledge makes a midwife confident in her role as the contraception counselling provider to immigrant women. Cultural and religious factors affect contraception counselling. According to the midwives, knowledge and awareness of these factors is crucial and leads to improved understanding of midwives providing contraception counselling, better compliance, fewer unwanted pregnancies and improved sexual and reproductive health among women. Copyright © 2017 Elsevier B.V. All rights reserved.
Ellington, Lee; Kelly, Kimberly M; Reblin, Maija; Latimer, Seth; Roter, Debra
The profession of genetic counseling has received limited guidance from theoretical models in how to communicate complex health information so that clients can actively use the information. In this study of a national sample of 145 genetic counselors conducting sessions with simulated clients, we apply two different approaches for analyzing and describing verbal health communication. The Roter interaction analysis system (RIAS) and linguistic inquiry word count (LIWC) were used to identify evidence of communication behaviors consistent with tenets of the social cognitive processing model (SCPM). These tools revealed descriptive evidence of counselor facilitation of client emotional processing and, to a lesser extent, facilitation of client cognitive processing and understanding. Conversely, descriptive analysis of client communication revealed evidence of cognitive processing, but less affective processing. Second, we assessed whether genetic counselor facilitative communication predicted simulated client responses consistent with the cognitive and emotional processing inherent in SCPM. These analyses revealed that counselor attempts to promote emotional expression and client insight were positively associated with client word usage indicative of expression of negative affect and cognitive processing. This study is the first to our knowledge to apply RIAS and LIWC in tandem and gives us a description of current practices within genetic counseling within a theoretical framework. Additionally, it provides suggestions for education and communication goals to improve providers' responses to patient emotions as well as skills to engender patient understanding and personal meaning-making of complex medical information.
Hazler, Richard J.; Singer, Mark J.
This paper offers a rationale and introduction to three innovative techniques which provide initial counseling experiences to trainees in the helping professions. The development of a cooperative program with the drama department to train and utilize drama students as coached clients is described as the first technique. The second technique is…
Lynch syndrome is the most common cause of inherited colorectal and endometrial cancers. Individuals with Lynch syndrome have a 10-80 % lifetime risk for colorectal cancer and a 15-60 % lifetime risk for endometrial cancer. Both cancers are preventable through chemoprevention, intensive cancer surveillance, and risk-reducing surgery options. Efforts to identify as many individuals with Lynch syndrome as possible will prevent cancers and save lives. This includes the traditional cancer genetic counseling model whereby individuals with and without cancer are evaluated for a possible Lynch syndrome diagnosis based on their personal and family history of colon polyps and cancers. It also includes universal tumor screening for Lynch syndrome whereby all individuals with colorectal or endometrial cancer are screened for tumor features of Lynch syndrome at the time of diagnosis. Those with tumors suspicious for Lynch syndrome are referred for cancer genetic counseling regardless of their family history of cancer. This two approaches must be maximized to attain high patient reach. Finally, and perhaps most importantly, cascade testing among the at-risk relatives of those diagnosed with Lynch syndrome is critically important to maximize the diagnosis of individuals with Lynch syndrome. In fact, the cost-effectiveness of universal tumor screening for Lynch syndrome relies entirely on counseling and testing as many at-risk individuals as possible since young unaffected individuals stand to benefit the most from an early diagnosis of Lynch syndrome. This approach must be optimized to achieve high family reach. It will take a concerted effort from patients, clinicians and public health officials to improve current approaches to the diagnosis of Lynch syndrome and the prevention and treatment of Lynch syndrome-associated cancer but these lessons can be applied to other conditions as the ultimate example of personalized medicine.
Jane Ryan; Alice Virani; Jehannine C. Austin
Genetic counseling is a well-established healthcare discipline that provides individuals and families with health information about disorders that have a genetic component in a supportive counseling encounter. It has recently been applied in the context of psychiatric disorders (like schizophrenia, bipolar disorder, schizoaffective disorder, obsessive compulsive disorder, depression and anxiety) that typically appear sometime during later childhood through to early adulthood. Psychiatric gene...
... Products For Consumers Home For Consumers Consumer Updates Breast Cancer in Men: Treatments and Genetic Counseling Share Tweet ... knowledge for others with this disease,” Prowell says. Breast Cancer Symptoms for Men Each year, about 2,000 ...
, and the National Health Laboratory Service, Johannesburg. Correspondence to: Shelley Macaulay, e-mail: email@example.com. Keywords: cystic fibrosis, genetic counselling, doctor referrals, at-risk relatives, carrier ...
Austin, Jehannine C
Risk communication is an important component of genetic counseling. However, many authors have noted that after genetic counseling, subjective risk frequently does not match the objective risk provided by the counselor. This inevitably leads to the conclusion that the risk communication process was not "effective". There has been much discussion about how this problem can be better addressed, such that our clients recall numeric risks more accurately after genetic counseling. This article draws on the risk and probability literature from other fields (including psychology, economics, philosophy and climate change) to deconstruct the concepts of "risk" and risk perception to attempt to expand upon and develop thought and discussion about and investigation of the risk communication process in genetic counseling.
This article traces the history of modern genetic counseling to mate selection and marriage counselling practices of the early-20th century. Mate selection revolved around a belief that human heredity could be improved and genetic diseases eradicated through better breeding. Marriage counselling, though interested in reproduction, was also concerned with the emotional and psychological well-being of couples. These two practices coalesced most obviously in the work of well-known geneticist Sheldon Reed. Even as marriage and genetic counselling diverged in the post-WWII period, vestiges of these practices remain in contemporary counseling experiences with family planning and genetic screening programs. Emphasizing points of continuity between "positive" eugenic ideologies and modern genetic practices elaborates the diverse origins of genetic counseling. It also exposes how genetic counselors have become involved in genetic enterprises beyond standard clinical settings, and prods at key issues in the interaction between genetic science and social values.
Rajpal, Neha; Muñoz, Juliana; Peshkin, Beth N; Graves, Kristi D
Despite the disproportionate underuse of genetic counseling and testing for BRCA1/2 (BRCA)-associated hereditary breast and ovarian cancer (HBOC) risk among Latinas, little is known about the associated barriers and facilitators. We conducted in-depth qualitative interviews with 20 at-risk Latina women from diverse backgrounds. Eligible women were diagnosed with breast cancer 1 first-degree relative diagnosed personal beliefs about genetic counseling. In addition, older women were equally as interested in education, cancer prevention, and BRCA genetic counseling as younger women. These findings suggest that Latinas, regardless of age, increasingly acknowledge and prioritize their own health. Women reported their main motivator to undergo counseling was concern about family members' cancer risks. Main barriers included financial and insurance concerns, and lack of awareness about genetic services. Investigating the beliefs and attitudes of diverse populations of Latinas at risk for HBOC reveals logistical barriers to BRCA genetic counseling uptake within this under-represented community. Efforts are needed to provide at-risk Latina breast cancer survivors' knowledge of and access to genetic counseling and testing based on risk status and Latinas' increasing responsiveness and uptake of these services.
Aalfs, C. M.; Smets, E. M. A.; Leschot, N. J.
BACKGROUND: Genetic counselling for familial conditions during pregnancy may have some disadvantages, such as time pressure and induced worry. However, little is known about the reasons for and consequences of this timing of genetic counselling. OBJECTIVE: The objective of this study was to provide
Bhogal, Ashvinder K.; Brunger, Fern
Abstract OBJECTIVE To help family physicians practise effective genetic counseling and offer practical strategies for cross-cultural communication in the context of prenatal genetic counseling. SOURCES OF INFORMATION PubMed and the Cochrane Database of Systematic Reviews were searched. Most evidence was level II and some was level III. MAIN MESSAGE The values and beliefs of practitioners, no less than those of patients, are shaped by culture. In promoting a patient’s best interest, the assumptions of both the patient and the provider must be held up for examination and discussed in the attempt to arrive at a consensus. Through the explicit discussion and formation of trust, the health professionals, patients, and family members who are involved can develop a shared understanding of appropriate therapeutic goals and methods. CONCLUSION Reflecting on the cultural nature of biomedicine’s ideas about risk, disability, and normality helps us to realize that there are many valid interpretations of what is in a patient’s best interest. Self-reflection helps to ensure that respectful communication with the specific family and patient is the basis for health care decisions. Overall, this helps to improve the quality of care. PMID:20944039
Ryan, Jane; Virani, Alice; Austin, Jehannine C
Genetic counseling is a well-established healthcare discipline that provides individuals and families with health information about disorders that have a genetic component in a supportive counseling encounter. It has recently been applied in the context of psychiatric disorders (like schizophrenia, bipolar disorder, schizoaffective disorder, obsessive compulsive disorder, depression and anxiety) that typically appear sometime during later childhood through to early adulthood. Psychiatric genetic counseling is emerging as an important service that fills a growing need to reframe understandings of the causes of mental health disorders. In this review, we will define psychiatric genetic counseling, and address important ethical concerns (we will particularly give attention to the principles of autonomy, beneficence, non-maleficence and justice) that must be considered in the context of its application in adolescent psychiatry, whilst integrating evidence regarding patient outcomes from the literature. We discuss the developing capacity and autonomy of adolescents as an essential and dynamic component of genetic counseling provision in this population and discuss how traditional viewpoints regarding beneficence and non-maleficence should be considered in the unique situation of adolescents with, or at risk for, psychiatric conditions. We argue that thoughtful and tailored counseling in this setting can be done in a manner that addresses the important health needs of this population while respecting the core principles of biomedical ethics, including the ethic of care.
Full Text Available Genetic counseling is a well-established healthcare discipline that provides individuals and families with health information about disorders that have a genetic component in a supportive counseling encounter. It has recently been applied in the context of psychiatric disorders (like schizophrenia, bipolar disorder, schizoaffective disorder, obsessive compulsive disorder, depression and anxiety that typically appear sometime during later childhood through to early adulthood. Psychiatric genetic counseling is emerging as an important service that fills a growing need to reframe understandings of the causes of mental health disorders. In this review, we will define psychiatric genetic counseling, and address important ethical concerns (we will particularly give attention to the principles of autonomy, beneficence, non-maleficence and justice that must be considered in the context of its application in adolescent psychiatry, whilst integrating evidence regarding patient outcomes from the literature. We discuss the developing capacity and autonomy of adolescents as an essential and dynamic component of genetic counseling provision in this population and discuss how traditional viewpoints regarding beneficence and non-maleficence should be considered in the unique situation of adolescents with, or at risk for, psychiatric conditions. We argue that thoughtful and tailored counseling in this setting can be done in a manner that addresses the important health needs of this population while respecting the core principles of biomedical ethics, including the ethic of care.
Danhauer, Suzanne C.; Tooze, Janet A.; Blackstock, A. William; Spangler, John; Thomas, Leslie; Sutfin, Erin L.
Purpose. Many cancer patients continue to smoke after diagnosis, increasing their risk for treatment complications, reduced treatment efficacy, secondary cancers, and reduced survival. Outpatient oncology providers may not be using the “teachable moment” of cancer diagnosis to provide smoking cessation assistance. Providers and Methods. Physicians and midlevel providers (n = 74) who provide outpatient oncology services completed an online survey regarding smoking cessation counseling behaviors, beliefs, and perceived barriers. Outpatient medical records for 120 breast, lung, head and neck, colon, prostate, and acute leukemia cancer patients were reviewed to assess current smoking cessation assessment and intervention documentation practices. Results. Providers reported commonly assessing smoking in new patients (82.4% frequently or always), but rates declined at subsequent visits for both current smokers and recent quitters. Rates of advising patients to quit smoking were also high (86.5% frequently or always), but oncology setting. PMID:22334454
Understanding Task Force Recommendations Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-related Cancer in Women The U.S. Preventive Services Task Force (Task Force) has issued a final ...
Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V; van Tintelen, J Peter; van Langen, Irene M
The introduction of next-generation sequencing in everyday clinical genetics practise is increasing the number of genetic disorders that can be confirmed at DNA-level, and consequently increases the possibilities for cascade screening. This leads to a greater need for genetic counselling, whereas the number of professionals available to provide this is limited. We therefore piloted group genetic counselling for symptomatic cardiomyopathy patients at regional hospitals, to assess whether this could be an acceptable alternative to individual counselling. We performed a cohort study with pre- and post-counselling patient measurements using questionnaires, supplemented with evaluations of the group counselling format by the professionals involved. Patients from eight regional hospitals in the northern part of the Netherlands were included. Questionnaires comprised patient characteristics, psychological measures (personal perceived control (PPC), state and trait anxiety inventory (STAI)), and satisfaction with counsellors, counselling content and design. In total, 82 patients (mean age 57.5 year) attended one of 13 group sessions. Median PPC and STAI scores showed significantly higher control and lower anxiety after the counselling. Patients reported they were satisfied with the counsellors, and almost 75% of patients were satisfied with the group counselling. Regional professionals were also, overall, satisfied with the group sessions. The genetics professionals were less satisfied, mainly because of their perceived large time investment and less-than-expected group interaction. Hence, a group approach to cardiogenetic counselling is feasible, accessible, and psychologically effective, and could be one possible approach to counselling the increasing patient numbers in cardiogenetics. PMID:25649380
Yotsumoto, Junko; Sekizawa, Akihiko; Suzumori, Nobuhiro; Yamada, Takahiro; Samura, Osamu; Nishiyama, Miyuki; Miura, Kiyonori; Sawai, Hideaki; Murotsuki, Jun; Kitagawa, Michihiro; Kamei, Yoshimasa; Masuzaki, Hideaki; Hirahara, Fumiki; Endo, Toshiaki; Fukushima, Akimune; Namba, Akira; Osada, Hisao; Kasai, Yasuyo; Watanabe, Atsushi; Katagiri, Yukiko; Takeshita, Naoki; Ogawa, Masaki; Okai, Takashi; Izumi, Shunichiro; Hamanoue, Haruka; Inuzuka, Mayuko; Haino, Kazufumi; Hamajima, Naoki; Nishizawa, Haruki; Okamoto, Yoko; Nakamura, Hiroaki; Kanegawa, Takeshi; Yoshimatsu, Jun; Tairaku, Shinya; Naruse, Katsuhiko; Masuyama, Hisashi; Hyodo, Maki; Kaji, Takashi; Maeda, Kazuhisa; Matsubara, Keiichi; Ogawa, Masanobu; Yoshizato, Toshiyuki; Ohba, Takashi; Kawano, Yukie; Sago, Haruhiko
The purpose of this study is to summarize the results from a survey on awareness of genetic counseling for pregnant women who wish to receive non-invasive prenatal testing (NIPT) in Japan. As a component of a clinical study by the Japan NIPT Consortium, genetic counseling was conducted for women who wished to receive NIPT, and a questionnaire concerning both NIPT and genetic counseling was given twice: once after pre-test counseling and again when test results were reported. The responses of 7292 women were analyzed. They expressed high satisfaction with the genetic counseling system of the NIPT Consortium (94%). The number of respondents who indicated that genetic counseling is necessary for NIPT increased over time. Furthermore, they highly valued genetic counseling provided by skilled clinicians, such as clinical geneticists or genetic counselors. The vast majority (90%) responded that there was sufficient opportunity to consider the test ahead of time. Meanwhile, women who received positive test results had a poor opinion and expressed a low-degree satisfaction. We confirmed that the pre-test genetic counseling that we conducted creates an opportunity for pregnant women to sufficiently consider prenatal testing, promotes its understanding and has possibilities to effectively facilitate informed decision making after adequate consideration. A more careful and thorough approach is considered to be necessary for women who received positive test results.
Hawkins, Alice K; Ho, Anita
Over the last several years, direct to consumer(DTC) genetic testing has received increasing attention in the public, healthcare and academic realms. DTC genetic testing companies face considerable criticism and scepticism,particularly from the medical and genetic counseling community. This raises the question of what specific aspects of DTC genetic testing provoke concerns, and conversely,promises, for genetic counselors. This paper addresses this question by exploring DTC genetic testing through an ethic allens. By considering the fundamental ethical approaches influencing genetic counseling (the ethic of care and principle-based ethics) we highlight the specific ethical concerns raised by DTC genetic testing companies. Ultimately,when considering the ethics of DTC testing in a genetic counseling context, we should think of it as a balancing act. We need careful and detailed consideration of the risks and troubling aspects of such testing, as well as the potentially beneficial direct and indirect impacts of the increased availability of DTC genetic testing. As a result it is essential that genetic counselors stay informed and involved in the ongoing debate about DTC genetic testing and DTC companies. Doing so will ensure that the ethical theories and principles fundamental to the profession of genetic counseling are promoted not just in traditional counseling sessions,but also on a broader level. Ultimately this will help ensure that the public enjoys the benefits of an increasingly genetic based healthcare system.
Gershon, Elliot S; Alliey-Rodriguez, Ney
Recent genetic findings of high-impact genetic variants in bipolar disorder, schizophrenia, and autism spectrum disorder (ASD) must lead to profound changes in genetic and family counseling. The authors present risk calculations, discuss the ethical implications of these findings, and outline the changes now required in the risk counseling process. The authors use data from recent mega-analyses and reviews of common and rare risk variants in bipolar disorder, schizophrenia, and ASD to calculate risks of illness based on genetic marker tests. They then consider new ethical issues in mental disorders presented by these risks, including within-family conflicts over genetic testing; effects of genetic discoveries on stigma, abortion, preimplantation procedures, and population screening for susceptibility; and genetic tests as a factor in marital choice. New structural mutations (de novo copy number variants [CNVs], which are chromosomal microdeletions and micro-duplications) are present in 4%27% of patients with bipolar disorder, schizophrenia, or ASD and can occur almost anywhere in the genome. For a person with a de novo CNV, the absolute risk of bipolar disorder, schizophrenia, or ASD is 14%, much higher than the population risk. Rare CNVs have also been identified that are generally not new mutations but constitute very high-effect risk factors, ranging up to 82%. A substantial minority of patients with bipolar disorder, schizophrenia, and ASD have high-impact detectable genetic events. This greatly changes psychiatric genetic counseling for these patients and families. A psychotherapeutic approach may be needed as a routine part of risk counseling, particularly for resolution of ethical issues and for within-family stigma and conflicts over genetic test results.
Lavínia Schuler-Faccini; Claudio Maria Osorio; Flavia Romariz; Milena Paneque; Jorge Sequeiros; Laura Bannach Jardim
Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST) can be used to identify persons at risk of developing the disease. Genetic counseling provides patients with information about the disease, genetic risks, PST, and the de...
Sussner, Katarina M; Edwards, Tiffany; Villagra, Cristina; Rodriguez, M Carina; Thompson, Hayley S; Jandorf, Lina; Valdimarsdottir, Heiddis B
Despite the life-saving information that genetic counseling can provide for women at hereditary breast and/or ovarian cancer (HBOC) risk, Latinas disproportionately underuse such services. Understanding Latinas' beliefs and attitudes about BRCA genetic counseling may be the key to better health promotion within this underserved, at-risk group. We conducted 12 focus groups (N = 54) with at-risk Latina women in New York City, followed by 30 in-depth interviews among a subset of the focus group women. Both were professionally transcribed, translated where applicable and data analysis was completed by two coders trained in qualitative methods. Results revealed personal and community knowledge about BRCA genetic counseling was relatively low, although women felt largely positive about counseling. The main motivator to undergo genetic counseling was concerns about learning family members' cancer status, while the main barrier was competing demands. Generational differences were apparent, with younger women (approximately machismo, fatalismo, destino) to undergoing genetic counseling. Participants were largely enthusiastic about educational efforts to increase awareness of genetic counseling among Latinos. Revealing the beliefs and attitudes of underserved Latinas may help shape culturally appropriate educational materials and promotion programs to increase BRCA genetic counseling uptake within this underrepresented community.
Middleton, Anna; Emery, Steven D.; Turner, Graham H.
Genetic counseling is part of the social response to the science of genetics. It is intended to help twenty-first-century societies manage the consequences of our ability to observe and intervene in our genetic makeup. This article explores the views, knowledge, and beliefs of some Deaf and hard of hearing people about genetics and genetic…
Biesecker, Barbara Bowles
The accelerated discovery of gene mutations that lead to increased risk of disease has led to the rapid development of predictive genetic tests. These tests improve the accuracy of assigning risk, but at a time when intervention or prevention strategies are largely unproved. In coming years, however, data will become increasingly available to guide treatment of genetic diseases. Eventually genetic testing will be performed for common diseases as well as for rare genetic conditions. This will challenge genetic counseling practice. The ethical principles that now guide this practice take into account the personal nature of test decision making, the need to respect individual self-determination, and the importance of client confidentiality. Certain of these principles may have to be modified as genetic testing becomes more widespread in order to meet the changing needs of clients and society. This paper offers recommendations to ensure that genetic counselors will take a leading role in the future delivery of ethical genetic services.
Adonis S. Ioannides
Full Text Available The beta-thalassaemias are very important genetic disorders of haemoglobin synthesis and are amongst the commonest monogenic disorders. In view of the severity of beta-thalassaemia major, a number of screening programmes have been developed aimed at reducing the number of individuals born with the condition. Genetic counsellingplays a vital role in this process supporting the successful implementation of screening and delineating available options to at risk individuals. This review assesses the contribution of genetic counsellingat each stage of this process in the context of new diagnostic techniques and therapeutic options and discusses some of the more challenging aspects such as genotype/ phenotype correlation and coinheritance of other genetic conditions or genetic modifiers.
McDonald-McGinn, Donna M.; Zackai, Elaine H.
Because of advances in palliative medical care, children with the 22q11.2 deletion syndrome are surviving into adulthood. An increase in reproductive fitness will likely follow necessitating enhanced access to genetic counseling for these patients and their families. Primary care physicians/obstetric practitioners are in a unique position to…
Albada, A.; Vernooij, M.; Osch, L. van; Pijpe, A.; Dulmen, A.M. van; Ausems, M.G.E.M.
To optimally inform counselees about their and their relatives' risks, information about lifestyle risk factors, e.g. physical activity and alcohol consumption, might be discussed in breast cancer genetic counselling. This study explored whether lifestyle was discussed, on whose initiative, whether
Miranda, Cacy; Veach, Patricia McCarthy; Martyr, Meredith A; LeRoy, Bonnie S
This study comprises an initial empirical description of personal and professional characteristics of master genetic counselors-those considered to be experts in the profession. Fifteen peer-nominated genetic counselors, actively engaged in providing clinical services to patients, participated in semi-structured telephone interviews exploring their personal qualities, inspirations, and perspectives on professional development of expertise. Analysis using modified Consensual Qualitative Research methods yielded 7 domains and 33 categories. Findings indicate master genetic counselors have a strong passion for and dynamic commitment to the profession. They also have insatiable curiosity and are life-long learners who are reflective, self-aware, confident, and recognize their limitations. They are authentic and genuine, and consider their personality to be their counseling style. They form collaborative and interactive relationships with patients based on trust, and they have nuanced attunement to the complexity and multiple levels of the counseling process. Master genetic counselors have deep empathy and are inspired by patients and colleagues, and they derive personal meaning from their work. They are affected emotionally by their work, but effectively manage the emotional impact. They view their professional development as ongoing, influenced by colleagues, patients, mentoring, multicultural considerations, and their own family of origin. They also believe professional development of expertise occurs through critical reflection upon the experiences one accrues. Additional findings and their relationship to theory and research, study strengths and limitations, implication for training and practice, and research recommendation are discussed.
Schäfer, Mike Steffen
Full Text Available Purpose: The study aimed to describe students' attitudes towards human genome research and towards genetic counselling and testing at cancer patients. The background of this investigation provided the increasing relevance ob human genetics research for clinical practice.Methods: A total of 167 medical students (54% female, aged 24 +/- 2 years from the second phase of their studies were surveyed in obligatory courses at the University of Leipzig, using a standardized questionnaire. Topics of the survey were attitudes towards human genome research and genetic counselling and testing at cancer patients as well as general values and socio-demographic data of the students.Results: The students consider human genome research as relevant and evaluate it positively, mainly based on expectations of medical uses. Genetic counselling and testing at cancer patients as an application of human genetics is also evaluated as important. The students attribute high relevance to clinical procedures for identification of genetic backgrounds for cancer (family history, information about genetic diagnostic. Nevertheless, deficits in their medical education are highlighted und reflected upon: the increased integration of human genetic content into medical curricula is demanded.Discussion: In accordance with the newly formulated „Approbationsordnung für Ärzte", the results suggest that current human genetic development should be more emphasized in medical education. This could be realized by an enlarged ratio of human genetic courses within curricula and by the transformation of these courses from facultative into obligatory.
Wallace, Jody P; Myers, Melanie F; Huether, Carl A; Bedard, Angela C; Warren, Nancy Steinberg
The development of a PhD in genetic counseling has been discussed for more than 20 years, yet the perspectives of employers have not been assessed. The goal of this qualitative study was to gain an understanding of the employability of genetic counselors with a PhD in genetic counseling by conducting interviews with United States employers of genetic counselors. Study participants were categorized according to one of the following practice areas: academic, clinical, government, industry, laboratory, or research. All participants were responsible for hiring genetic counselors in their institutions. Of the 30 employers interviewed, 23 envisioned opportunities for individuals with a PhD degree in genetic counseling, particularly in academic and research settings. Performing research and having the ability to be a principal investigator on a grant was the primary role envisioned for these individuals by 22/30 participants. Employers expect individuals with a PhD in genetic counseling to perform different roles than MS genetic counselors with a master's degree. This study suggests there is an employment niche for individuals who have a PhD in genetic counseling that complements, and does not compete with, master's prepared genetic counselors.
Levin, Brooke Levenseller; Varga, Elizabeth
The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the folate metabolism pathway, the byproducts of which are involved in the remethylation of homocysteine to methionine. Methionine is a precursor for a major DNA methyl donor and is important for DNA methylation and gene regulation. Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria. In addition, two polymorphic variants in this gene (C677T and A1298C) have been implicated in a mild form of MTHFR deficiency associated with hyperhomocysteinemia. Mild to moderate hyperhomocysteinemia has been previously implicated as a risk factor for cardiovascular disease. Further, the presence of these variants, with and without mildly elevated levels of homocysteine, has been studied in relation to several multifactorial disorders including recurrent pregnancy loss, neural tube defects and congenital anomalies, cancer, and neurodevelopmental disorders. Given this wide spectrum of purported clinical implications and the prevalence of these polymorphisms, genetic counselors may encounter questions regarding the significance of MTHFR polymorphisms in a variety of settings. Here we present a brief background of the MTHFR polymorphisms, review of the literature regarding clinical considerations, and discussion of relevant genetic counseling aspects through case vignettes. Educational resources for patients and providers are also included.
Harris, A.; Kelly, S.; Wyatt, S.
Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing
Albada, A.; Ausems, M.G.E.M.; Otten, R.; Bensing, J.M.; Dulmen, S. van
This article explores the use and evaluation of a pre-visit website which aims to prepare counselees who are the first in their family to request breast cancer genetic counseling. This website E-info gene(ca) provides computer-tailored information and a blank question prompt sheet (QPS) on which
Ulph, Fiona; Leong, James; Glazebrook, Cris; Townsend, Ellen
The identification of healthy carriers by newborn screening programmes raises questions about how and when the carrier results will be conveyed to child. There is currently a lack of information concerning how best to convey carrier information to children. This is a serious gap in the literature and practice. This study examined genetic counsellors' experiences of counselling children to explore how to support and inform children about their carrier result. Practising members of the United Kingdom (UK) Association of Genetic Nurses and Counsellors took part in semi-structured telephone interviews. Respondents described the communication process and identified barriers and facilitators of communication. Age, illness experience and maturity were variously discussed as facilitators; all of which are integral to psychological theories of children's understanding of illness. Adaptive family communication, school tuition and educational materials were also seen as influencing counselling efficacy. Relevant materials that children could keep were also seen as important to enhance children's autonomy. Yet, such resources were rare, constituting a barrier to communication. Counsellors reported communication was further impeded by maladaptive family communication and resistance from children to engaging in counselling. By exploring the facilitators and barriers inherent in communicating genetic information to children, guidance can be offered to counsellors, researchers and parents. This study indicates that some factors (eg illness experiences) previously identified by psychological theories may act in complex ways within this setting. Importantly, the factors identified as being most influential when communicating with children about genetics are amenable to change through interventions, support and training.
This paper examines the intertwined relations between eugenics and medical genetics from a Swedish perspective in the 1940s and 1950s. The Swedish case shows that a rudimentary form of genetic counseling emerged within eugenic practices in the applications of the Swedish Sterilization Act of 1941, here analyzed from the phenomenon of "heredophobia" (ärftlighetsskräck). At the same time genetic counseling also existed outside eugenic practices, within the discipline of medical genetics. The paper argues that a demand for genetic counseling increased in the 1940s and 1950s in response to a sense of reproductive responsibility engendered by earlier eugenic discourse. The paper also questions the claim made by theoreticians of biopolitics that biological citizens have emerged only during the last decades, especially in neoliberal societies. From the Swedish case it is possible to argue that this had already happened earlier in relation to the proliferation of various aspects of eugenics to the public.
Godino, Lea; Turchetti, Daniela; Skirton, Heather
In the past, genetic services were delivered to a limited number of families with rare conditions. However, genomics is now being applied to both inherited and common diseases in a range of healthcare settings, and there is a greater need for nurses to understand the basic concepts of genetic health care. The aim of this cross-sectional survey was to explore the understanding and attitudes of Italian nurses toward genetic health care. A questionnaire was completed by 102 nurses and midwives (85% response rate). Of these, 61% believed that genetic counseling was only an informative and advisory process, and 53.9% could not specify to whom the counseling was aimed. When asked to identify nurses' role in genetic health care, 62% of the respondents believed they had no role, although 28% believed that nurses could provide information, support, and counseling. These findings indicate that nurses have only partial knowledge of the issues surrounding genetic health care. To prepare nurses for the post-genomic era, improved genetic education at the undergraduate and postgraduate levels is required. © 2012 Wiley Publishing Asia Pty Ltd.
Albada, Akke; van Dulmen, Sandra; Spreeuwenberg, Peter; Ausems, Margreet G E M|info:eu-repo/dai/nl/18756969X
Objective: Pre-counseling education helps counselees to prepare for breast cancer genetic counseling and might subsequently result in more positive experiences, improved cognitive outcomes and more experienced control. This study assessed the effects of a website with tailored information and a
Albada, A.; Dulmen, S. van; Spreeuwenberg, P.; Ausems, M.G.E.M.
Objective: Pre-counseling education helps counselees to prepare for breast cancer genetic counseling and might subsequently result in more positive experiences, improved cognitive outcomes and more experienced control. This study assessed the effects of a website with tailored information and a
Akgumus, Gozde; Shah, Divya; Higgs, Lydia; Valverde, Kathleen
International students have unique personal and academic challenges during their training in genetic counseling programs across the United States (U.S.). Previous research has explored their motivations and experiences; however, there is scant research on how their international status affects the post-graduate experience. The current study used semi-structured phone interviews to explore the professional issues that international students face throughout their educational and professional careers. Twenty-six participants were interviewed including international genetic counseling students in their second years of training and international genetic counselors who graduated from a U.S.-accredited program. Participants included six, second-year students, twelve genetic counselors employed in the U.S., six employed in Canada, and one employed in the United Kingdom (U.K.). Qualitative analysis of interviews captured the common experiences and challenges international students faced during their training and post-graduation. Participants stated that they applied to programs in the U.S. because there is wide transferability of qualifications across the world, and there is limited or no opportunities for masters level genetic counseling training in their home country. Most participants who had applied for jobs in the U.S. experienced difficulties regarding unfamiliarity of human resources (HR) departments and Border Control Officers with international genetic counselors (GCs) and their visa requirements. The results suggest that currently there are insufficient job resources tailored to international genetic counselors, and an inadequate availability of peer support. The results also speak to the need to develop resources for prospective international students and for international GCs seeking jobs, and establishment of a peer support network. These resources may also provide assistance to genetic counseling training programs and employers to address the challenges faced
Thompson, Chalmer E.
Counseling psychologists are in ideal positions to address issues pertinent to black college students, particularly via empirical research study and advocacy. The first step towards maximizing benefit to black college students is to respond to their need for personal and community-wide intervention. It is necessary to collaborate with the…
Andrighetti, Heather; Semaka, Alicia; Stewart, S. Evelyn; Shuman, Cheryl; Hayeems, Robin; Austin, Jehannine
Obsessive-compulsive disorder (OCD) has primarily pediatric onset and well-documented unique impacts on family functioning. Limited research has assessed the understanding that parents of children with OCD have of the etiology of the condition, and there are no data regarding potential applications of genetic counseling for this population. We recruited 13 parents of 13 children diagnosed with OCD from the OCD Registry at British Columbia Children’s Hospital, and conducted qualitative semi-structured telephone interviews to explore participants’ experiences with their child’s OCD, causal attributions of OCD, and perceptions of two genetic counseling vignettes. Interviews were audio-recorded, transcribed, and analyzed using elements of grounded theory qualitative methodology. Analysis revealed key components and contextual elements of the process through which parents adapt to their child’s OCD. This adaptation process involved conceptualizing the meaning of OCD, navigating its impact on family dynamics, and developing effective illness management strategies. Adaptation took place against a backdrop of stigmatization and was shaped by participants’ family history of mental illness and their child’s specific manifestations of OCD. Parents perceived genetic counseling, as described in the vignettes, as being empowering, alleviating guilt and blame, and positively impacting treatment orientation. These data provide insight into the process of parental adaptation to pediatric OCD, and suggest that genetic counseling services for families affected by OCD may help facilitate adaptation to this illness. PMID:26639756
Aalfs, Cora M.; Smets, Ellen M. A.; de Haes, Hanneke C. J. M.; Leschot, Nico J.
Background. In many countries, GPs play a key role in the referral to other medical specialists. Referral for reproductive genetic counselling during a pregnancy of women with a genetic risk factor already present before pregnancy has many disadvantages. Nevertheless, some 10-20% of the counsellees
Moore, Sarah J; Blair, Elizabeth A; Steeb, David R; Reed, Brent N; Hull, J Heyward; Rodgers, Jo Ellen
Discharge anticoagulation counseling is important for ensuring patient comprehension and optimizing clinical outcomes. As pharmacy resources become increasingly limited, the impact of informational videos on the counseling process becomes more relevant. To evaluate differences in pharmacist time spent counseling and patient comprehension (measured by the Oral Anticoagulation Knowledge [OAK] test) between informational videos and traditional face-to-face (oral) counseling. This prospective, open, parallel-group study at an academic medical center randomized 40 individuals-17 warfarin-naïve ("New Start") and 23 with prior warfarin use ("Restart")-to receive warfarin discharge education by video or face-to-face counseling. "Teach-back" questions were used in both groups. Although overall pharmacist time was reduced in the video counseling group (P counseling method (P = 0.012) suggests the difference between counseling methods was smaller in New Start participants. Following adjustment, mean total time was reduced 8.71 (95% CI = 5.15-12.26) minutes (adjusted P counseling. Postcounseling OAK test scores did not differ. Age, gender, socioeconomic status, and years of education were not predictive of total time or OAK test score. Use of informational videos coupled with teach-back questions significantly reduced pharmacist time spent on anticoagulation counseling without compromising short-term patient comprehension, primarily in patients with prior warfarin use. Study results demonstrate that video technology provides an efficient method of anticoagulation counseling while achieving similar comprehension. © The Author(s) 2015.
Ford, Marvella E; Alford, Sharon Hensley; Britton, Diandra; McClary, Beth; Gordon, Howard S
The study assessed perceptions of breast cancer genetic counseling. Focus groups were conducted with twenty women (ages cancer and referred for breast cancer genetic counseling following mammography. All participants associated the words "breast cancer" with fear. African American women who received breast cancer genetic counseling may have channeled their fear into increased vigilance related to breast health. African American women who did not receive breast cancer genetic counseling were most knowledgeable about it. In contrast, Caucasian women who did not receive it reported uncertainty about the role of genetic counseling and testing in assessing breast cancer risk, mistrust in medical professionals, and lack of trust in the accuracy of genetic tests. The results could be used to help develop interventions to improve informed decision-making regarding breast cancer genetic counseling.
Debra P. Russ
Full Text Available Second Life is a multiuser environment that can be found on the Internet. There are hundreds of counselors using Second Life as a service delivery mode. Currently, Second Life remains an unregulated avenue for practice. Counselors considering opening a practice need to investigate the benefits and disadvantages for using this medium. The author will discuss the opportunities, issues, and steps for establishing a counseling practice in Second Life.
Ordonez, Jessica; Margarit, Sonia; Downs, Katy; Yashar, Beverly M
While genetic counseling has expanded to multiple international settings, research about providing culturally sensitive services to non-U.S. patients is limited. To gain insights, we utilized a process study to explore parental communication in pediatric genetics clinics in Chile. We utilized a phenomenological hermeneutic approach to assess storytelling in six pediatric sessions that were conducted in Spanish, and translated into English. The majority of the sessions focused on information gathering (35 %), and providing medical (20 %) and genetics education (18 %). The 14 instances of storytelling we identified usually emerged during information gathering, genetics education, and the closing of the session. Stories illustrated parental efforts to create a cognitive and emotional context for their child's genetic diagnosis. Parents emerged as competent caregivers who discussed the role of the child as a social being in the family and the larger community. Our analysis found that genetic counseling sessions in the U.S. and Chile are structured similarly and although communication is not a balanced process, parents use storytelling to participate as active agents in the session. Via storytelling, we learned that parents are working to understand and gain control over their child's genetic diagnosis by relying on mechanisms that extend beyond the genetics appointment.
Full Text Available Objective. To examine the proportion of health care providers who counsel adolescent patients on sports and energy drink (SED consumption and the association with provider characteristics. Methods. This is a cross-sectional analysis of a survey of providers who see patients ≤17 years old. The proportion providing regular counseling on sports drinks (SDs, energy drinks (EDs, or both was assessed. Chi-square analyses examined differences in counseling based on provider characteristics. Multivariate logistic regression calculated adjusted odds ratios (aOR for characteristics independently associated with SED counseling. Results. Overall, 34% of health care providers regularly counseled on both SEDs, with 41% regularly counseling on SDs and 55% regularly counseling on EDs. On adjusted modeling regular SED counseling was associated with the female sex (aOR: 1.44 [95% CI: 1.07–1.93], high fruit/vegetable intake (aOR: 2.05 [95% CI: 1.54–2.73], family/general practitioners (aOR: 0.58 [95% CI: 0.41–0.82] and internists (aOR: 0.37 [95% CI: 0.20–0.70] versus pediatricians, and group versus individual practices (aOR: 0.59 [95% CI: 0.42–0.84]. Modeling for SD- and ED-specific counseling found similar associations with provider characteristics. Conclusion. The prevalence of regular SED counseling is low overall and varies. Provider education on the significance of SED counseling and consumption is important.
Thrun, Mark; Cook, Paul F.; Bradley-Springer, Lucy A.; Gardner, Lytt; Marks, Gary; Wright, Julie; Wilson, Tracey E.; Quinlivan, E. Byrd; O'Daniels, Christine; Raffanti, Stephen; Thompson, Melanie; Golin, Carol
The Centers for Disease Control and Prevention have recommended that HIV care clinics incorporate prevention into clinical practice. This report summarizes HIV care providers' attitudes and counseling practices before and after they received training to deliver a counseling intervention to patients. Providers at seven HIV clinics received training…
Barlow-Stewart, Kristine; Yeo, Soo See; Meiser, Bettina; Goldstein, David; Tucker, Kathy; Eisenbruch, Maurice
In societies such as Australia with a strong multicultural makeup, culturally determined attitudes to genetics, testing, and counseling may be incompatible with current genetics service provision. An ethnographic investigation using purposive sampling to increase subject diversity was used to explore the range of beliefs about kinship and inheritance using Chinese-Australians as a case. Participants comprised a sample of 15 Chinese-Australians who had been recruited through several community-based organizations. The level of acculturation does not correlate with holding beliefs about inheritance, kinship, and causes of hereditary cancer that are based on "Western" biomedical or traditional concepts. Mismatch between beliefs may exist within families that can impact participation in cancer genetic testing. Family history taking that underpins the surveillance, management, and referral to genetic counseling where there is a strong family history of breast, ovarian, or colorectal cancer can also be impacted unless recognition is made of the patrilineal concept of kinship prevalent in this Chinese-Australian community. This community-based study confirmed and validated views and beliefs on inheritance and kinship and inherited cancer attributed to senior family members by Chinese-Australians who attended cancer genetic counseling. Barriers to communication can occur where there may be incompatibility within the family between "Western" and traditional beliefs. The findings were used to develop strategies for culturally competent cancer genetic counseling with Australian-Chinese patients. These include nonjudgmental incorporation of their belief systems into the genetic counseling process and avoidance of stereotyping. They have also influenced the development of genetics education materials to optimize family history taking.
Biesecker, Barbara; Austin, Jehannine; Caleshu, Colleen
Whether genetic counseling is a form of psychotherapy is open for debate. Early practicioners in genetic counseling described it as such, and this claim has been replicated in recent publications. This commentary is a rebuttal to the claim that genetic counseling is distinct from psychotherapty. We argue that it is a a form of psychoterapy that aims to help clients manage a health threat that affects their psychological wellbeing, paralleling the goals of psychotherapy.
Biesecker, Barbara; Austin, Jehannine; Caleshu, Colleen
Whether genetic counseling is a form of psychotherapy is open for debate. Early practicioners in genetic counseling described it as such, and this claim has been replicated in recent publications. This commentary is a rebuttal to the claim that genetic counseling is distinct from psychotherapty. We argue that it is a a form of psychoterapy that aims to help clients manage a health threat that affects their psychological wellbeing, paralleling the goals of psychotherapy.
Full Text Available Background: there are many reasons why a couple may seek specialist genetic counselling about foetal risk. The referral for prenatal genetic counselling of women with a known risk factor during pregnancy has many disadvantages. Despite this, 10-20% of women seek counselling when already pregnant.Methods: data on 804 pregnant women out of 2 158 (37.3% referred for genetic counselling in 2010 to three Clinical Genetic Services were retrospectively analysed. Patients referred only for advanced maternal age were analysed in a separate study.Results: the 804 pregnant women were referred for 932 counselling issues. 325 issues (34.9% were identified during pregnancy and 607 (65.1% were pre-existing. 81.2% of Italians compared to 41.8% of the non-Italians (P<0.01 had access to counselling before 13 weeks of gestation for risk factors present before pregnancy. An accurate genetic diagnosis was available in 25.0% of cases. In 21.7% of the cases an elevated a priori risk of >10% for the unborn child was established.Conclusions: genetic services provide 37.3% of counselling to pregnant women. Referral for genetic counselling during pregnancy can require considerable resources and pose significant ethical and organizational challenges. New models of pregnancy care in the community need to be developed. General practitioners and gynaecologists have an important role in the referral and in the defence of equity of access and a more structured approach to the participation of medical geneticists to primary practice should be considered.
Ciske, D J; Haavisto, A; Laxova, A; Rock, L Z; Farrell, P M
To assess the effectiveness of communication between health care providers (physicians, nurses, genetic counselors) in Wisconsin and parents of children identified as heterozygote carriers for cystic fibrosis (CF) in the routine Wisconsin Newborn Screening Program that was implemented using trypsinogen/DNA testing. Routine CF neonatal screening, implemented in July 1994, involved a statewide system that recommended but did not mandate follow-up sweat tests at 1 of the Wisconsin's 2 certified CF centers. The Wisconsin Division of Health sent requests to participate to the parents of 483 infants identified as CF carriers between July 1994 and December 1997. Of the 483 parents, 183 agreed to participate and were asked to complete a questionnaire assessing their CF newborn screening experiences and their knowledge of CF genetics and any changes they made in their reproductive behavior as a result of this knowledge. Follow-up telephone interviews by a genetic counselor were attempted within 1 year for those completing the questionnaire. Within 4 months after the mailing, 138 of 183 (75%) parents completed the questionnaire. Subsequently, 123 of the 138 responders (89%) were contacted and interviewed by telephone. We learned that 67.6% of parents recalled receiving genetic counseling, but 32.4% of parents apparently did not participate in a risk communication session. When asked, "Who performed the genetic counseling?" parents indicated that their communication was with physicians in 8% of cases, nurses in 12.4%, and certified genetic counselors in 32.8% of cases; 17.5% of parents did not recall who performed the genetic counseling and 29.2% of parents indicated they did not receive genetic counseling. Based on the 138 responses, it was found that 88.3% of parents understood that their child was a carrier for CF, but 15.4% of parents were unsure whether being a carrier could cause illness. In addition, 12.4% of parents were unsure whether at least 1 of them (parents) was
Bell, Jerold S
Breeders of dogs have ethical responsibilities regarding the testing and management of genetic disease. Molecular genetics researchers have their own responsibilities, highlighted in this article. Laboratories offering commercial genetic testing should have proper sample identification and quality control, official test result certificates, clear explanations of test results and reasonably priced testing fees. Providing test results to a publicly-accessible genetic health registry allows breeders and the public to search for health-tested parents to reduce the risk of producing or purchasing affected offspring. Counseling on the testing and elimination of defective genes must consider the effects of genetic selection on the population. Recommendations to breed quality carriers to normal-testing dogs and replacing them with quality normal-testing offspring will help to preserve breeding lines and breed genetic diversity. Copyright © 2011 Elsevier Ltd. All rights reserved.
Braithwaite, Dejana; Emery, Jon; Walter, Fiona; Prevost, A Toby; Sutton, Stephen
.... Six electronic databases were searched to identify controlled trials and prospective studies that examined the effect of genetic counseling on risk perception, knowledge, anxiety, cancer-specific...
Steward, Wayne T; Koester, Kimberly A; Myers, Janet J; Morin, Stephen F
We examined the relationship between provider fatalism, a belief that behavior change among HIV-infected patients is unlikely, and HIV-prevention counseling in 16 publicly funded clinics. HIV-seropositive patients (N = 618) completed surveys assessing prevention counseling in the past 6 months. Additionally, 144 interviews were conducted with providers, administrators, and patients to examine beliefs about prevention counseling. We summed the number of fatalistic comments made by providers and administrators in each clinic, and assigned these counts as clinic-level fatalism scores to survey participants. Patients in high fatalism clinics were less likely to report prevention counseling than patients in low fatalism clinics. This difference remained significant even after controlling for clinic characteristics or patients' sexual risk and health status. However, clients in high fatalism clinics were more likely to be White, gay, educated, and older. Provider fatalism is a barrier that must be addressed when implementing HIV-prevention counseling in primary care settings.
Beja, Vanda; Leal, Isabel
To gain a deeper understanding of healthcare providers' perceptions on the abortion counselling they provide and its usefulness. We conducted in-depth interviews with 16 healthcare providers working in the Lisbon metropolitan area. The interviews were then subjected to content analysis. We identified the following themes on abortion counselling description: receiving the woman and understanding her request; providing information; supporting decision-making; managing emotional and psychological issues; addressing contraception; managing third-party involvement; offering psychological counselling; informing about the State's support and offering social counselling. All participants described counselling as useful but valued different aspects of it: information provision; addressing contraception to prevent future unplanned pregnancy/abortion; emotional support; decision-making support; addressing emotional issues beyond abortion; enticing women to seek healthcare in the future; preventing poor emotional post-abortion adjustment. Counselling was considered of no use to change the woman's abortion decision. The abortion counselling provided in Portugal is in tune with the latest literature on the subject, following a client-centred approach focused on the provision of information and emotional support. It can be improved, however, particularly in what concerns the staff's communication and counselling skills. Further research is needed to improve the provision of abortion care in Portugal.
Listyasari, Nurin Aisyiyah; Sihombing, Nydia Rena Benita; Winarni, Tri Indah; Belladona, Maria; Faradz, Sultana MH
Background Spinocerebellar ataxia (SCA) is neurodegenerative disorders with autosomal dominant inheritance, characterized by progressive ataxia. More than 30 types of SCA are known caused by various causative genes. SCA3 (MJD1 gene) is the most common form of SCA. We present an SCA3 family with complicated genetic counseling issue. Methods A 44-year-old female was referred to our service for genetic consultation. Pedigree construction, physical examination, and gene mutation analyses were performed on specimens from the patient and some family members. CAG repeat analysis of ataxin1 (SCA1), ataxin2 (SCA2), MJD1 (SCA3), and CACNA1A (SCA6) genes were done, followed by fragment length analysis, and sequencing. Genetic counseling was provided. Results The patient was already bedridden and she had a brother with the same condition. Neurological examination showed multiple cranial nerve palsy, right eye twitching, spastic paraplegia, limb atrophy, numbness, and bowel-bladder incontinence. CAG repeat expansion (>44) of MJD1 gene was found (28/76 repeats alleles), confirming SCA3. As requested by her family, carrier testing was done for her 15-year-old daughter, 12-year-old nephew, and 10-year-old niece. Her daughter had CAG repeat expansion (27/77 repeats alleles), while the nephew and niece revealed normal alleles. Problem arose when patient died prior to mutation analysis was complete and her husband divorced, leaving the daughter being an orphan. Risk and consequences of positive testing were explained to her uncle, who decided to keep information until the child would have reached legally adult age. Conclusions Genetic counseling is needed, especially in situation which involves many affected members. Carrier testing ethically should be taken for adult who can signs consent for themselves and should be discouraged for under aged individuals. Nevertheless, test was done as parent’s request, because of family anxiety and curiosity. Complexity and adult onset of SCA
S.R. Riedijk (Samantha); M.F. Niermeijer (Martinus); D. Dooijes (Dennis); A. Tibben (Arend)
textabstractA decade of genetic counseling of frontotemporal dementia (FTD) affected families has generated two important observations. First, the uptake rate for presymptomatic testing for FTD is low in our department of Clinical Genetics at the Erasmus Medical Center in the Netherlands. Second,
Omura, John D; Bellissimo, Moriah P; Watson, Kathleen B; Loustalot, Fleetwood; Fulton, Janet E; Carlson, Susan A
The US Preventive Services Task Force (USPSTF) recommends offering or referring adults who are overweight or obese and have additional cardiovascular disease (CVD) risk factors to intensive behavioral counseling interventions to promote a healthful diet and physical activity for CVD prevention. This study determined the proportion of primary care providers (PCPs) who discussed physical activity with most of their at-risk patients and referred them to intensive behavioral counseling, and reported barriers to counseling. Our analyses used data from DocStyles 2015, a Web-based panel survey of 1251 PCPs. Overall, 58.6% of PCPs discussed physical activity with most of their at-risk patients. Among these PCPs, the prevalence of components offered ranged from 98.5% encouraging increased physical activity to 13.9% referring to intensive behavioral counseling. Overall, only 8.1% both discussed physical activity with most at-risk patients and referred to intensive behavioral counseling. Barriers related to PCPs' attitudes and beliefs about counseling (e.g., counseling is not effective) were significantly associated with both discussing physical activity with most at-risk patients and referring them to intensive behavioral counseling (adjusted odds ratio, 1.92; 95% confidence interval, 1.15-3.20). System-level barriers (e.g., referral services not available) were not. Just over half of PCPs discussed physical activity with most of their at-risk patients, and few both discussed physical activity and referred patients to intensive behavioral counseling. Overcoming barriers related to attitudes and beliefs about physical activity counseling could help improve low levels of counseling and referrals to intensive behavioral counseling for CVD prevention. Published by Elsevier Inc.
Metcalf, Mary P; Tanner, T Bradley; Buchanan, Amanda
It is increasingly important that physicians have a thorough understanding of the basic science of human genetics and the ethical, legal and social implications (ELSI) associated with genetic testing and counseling. The authors developed a series of web-based courses for medical students on these topics. The course modules are interactive, emphasize clinical case studies, and can easily be incorporated into existing medical school curricula. Results of a 'real world' effectiveness trial indicate that the courses have a statistically significant effect on knowledge, attitude, intended behavior and self-efficacy related to genetic testing (pmedical students on the ELSI associated with genetic testing and for promoting positive changes in students' confidence, counseling attitudes and behaviors.
Full Text Available Santanu K Datta1,2, Adam H Buchanan3, Gail P Hollowell4, Henry F Beresford5, Paul K Marcom1,3, Martha B Adams1,61Department of Medicine, Duke University; 2Center for Health Services Research in Primary Care, Durham VA Medical Center; 3Duke Cancer Institute, Duke University; 4Department of Biology, North Carolina Central University; 5School of Nursing, Duke University; 6Department of Community and Family Medicine, Duke University, Durham, NC, USAAbstract: Cancer genetic counseling (CGC provides benefits and is the standard of care for individuals at increased risk of having a hereditary cancer syndrome. CGC services are typically centered in urban medical centers, leading to limited access to counseling in rural communities. Telemedicine has the potential to improve access to CGC, increase efficient use of genetic counselors, and improve patient care in rural communities. For telemedicine CGC to gain wide acceptance and implementation it needs to be shown that individuals who receive telemedicine CGC have high satisfaction levels and that CGC is cost-effective; however little research has been conducted to measure the impact of telemedicine CGC. This paper describes the design and methodology of a randomized controlled trial comparing telemedicine with in-person CGC. Measurement of patient satisfaction and effectiveness outcomes are described, as is measurement of costs that are included in an economic analysis. Study design and methodologies used are presented as a contribution to future comparative effectiveness investigations in the telemedicine genetic counseling field.Keywords: cancer genetics, genetic counseling, rural health services, telemedicine, satisfaction, cost
Bleiker Eveline MA
Full Text Available Abstract Background This study examined: (1 levels of cancer-specific distress more than one year after genetic counselling for hereditary nonpolyposis colorectal cancer (HNPCC; (2 associations between sociodemographic, clinical and psychosocial factors and levels of distress; (3 the impact of genetic counselling on family relationships, and (4 social consequences of genetic counselling. Methods In this cross-sectional study, individuals who had received genetic counselling for HNPCC during 1986–1998 completed a self-report questionnaire by mail. Results 116 individuals (81% response rate completed the questionnaire, on average 4 years after the last counselling session. Of all respondents, 6% had clinically significant levels of cancer-specific distress (Impact of Event Scale, IES. Having had contact with a professional psychosocial worker for cancer risk in the past 10 years was significantly associated with higher levels of current cancer specific distress. Only a minority of the counselees reported any adverse effects of genetic counselling on: communication about genetic counselling with their children (9%, family relationships (5%, obtaining life insurance (8%, choice or change of jobs (2%, and obtaining a mortgage (2%. Conclusion On average, four years after genetic counselling for HNPCC, only a small minority of counselled individuals reports clinically significant levels of distress, or significant family or social problems.
Full Text Available Abstract Neuromuscular disorders (NMD are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies have been incorporated since then. Next generation sequencing greatly improved our capacity to identify disease-causing mutations with important benefits for research and prevention through genetic counseling of patients' families. Stem cells researches, from and for patients, have been used as tools to study human genetic diseases mechanisms and for therapies development. The clinical effect of preclinical trials in mice and canine models for muscular dystrophies are under investigation. Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country.
Laurino, Mercy Y; Leppig, Kathleen A; Abad, Peter James; Cham, Breana; Chu, Yoyo Wing Yiu; Kejriwal, Saahil; Lee, Juliana M H; Sternen, Darci L; Thompson, Jennifer K; Burgess, Matthew J; Chien, Shu; Elackatt, Niby; Lim, Jiin Ying; Sura, Thanyachai; Faradz, Sultana; Padilla, Carmencita; Paz, Eva Cutiongco de-la; Nauphar, Donny; Nguyen, Khanh Ngoc; Zayts, Olya; Vu, Dung Chi; Thong, Meow-Keong
The Professional Society of Genetic Counselors in Asia (PSGCA) was recently established as a special interest group of the Asia Pacific Society of Human Genetics. Fostering partnerships across the globe, the PSGCA's vision is to be the lead organization that advances and mainstreams the genetic counseling profession in Asia and ensures individuals have access to genetic counseling services. Its mission is to promote quality genetic counseling services in the region by enhancing practice and curricular standards, research and continuing education. The PSGCA was formally launched during the Genetic Counseling Pre-Conference Workshop held at the 11th Asia-Pacific Conference on Human Genetics in Hanoi, Viet Nam, September 16, 2015. The pre-conference workshop provided an opportunity for medical geneticists and genetic counselors from across 10 Asia Pacific countries to learn about the varied genetic counseling practices and strategies for genetic counseling training. This paper provides an overview of the current status and challenges in these countries, and proposed course of unified actions for the future of the genetic counseling profession.
Kajula, Outi; Kääriäinen, Maria; Moilanen, Jukka S; Kyngäs, Helvi
There is little written about the quality of genetic counseling for men with the BRCA1/2 mutation. The purpose of this study was to describe the quality of genetic counseling and connected factors according to Finnish male BRCA1/2 mutation carriers' (n = 35) perspectives and reasons for seeking genetic counseling. Data were collected from the Departments of Clinical Genetics at five Finnish university hospitals. The exploratory study design was conducted using a 51-item questionnaire based on a previously devised quality of counseling model and analyzed using non-parametric tests and principle content analysis. The satisfaction level with genetic counseling was high, especially with regard to the content of genetic counseling. The benefit of genetic counseling on the quality of life differed significantly (p genetic counseling was in some cases associated to reduce the quality of life. Only 49 % of the male carriers felt they received sufficient counseling on social support. Attention to individual psychosocial support was proposed as an improvement to genetic counseling. Primary and secondary reasons for seeking genetic counseling and background information, such as education, affected the perceived quality of genetic counseling. The results of the study could be used to tailor genetic counseling for male BRCA1/2 mutation carriers.
Wilson, R Douglas
To inform reproductive and other health care providers about genetic and fetal risk information to consider during a woman/couples' pre-conception evaluation, including considerations for genetic risk assessment, genetic screening, or testing to allow for improved counselling and informed choice. This genetic information can be used for patient education, planning, and possible pre-conception and/or prenatal testing. This information may allow improved risk assessment for pre-conception counselling for individual patients and their families. PubMed or Medline and the Cochrane Database were searched in May 2017 using appropriate key words ("pre-conception," "genetic disease," "maternal," "family history," "genetic," "health risk," "genetic health surveillance," "prenatal screening," "prenatal diagnosis," "birth defects," and "teratogen"). Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, and national and international medical specialty societies. The benefits for the patient and her family include an increased understanding of relevant genetic risk pre-conception and in early pregnancy, and better pregnancy outcomes as a result of use of the information. The harm includes potential increased anxiety or psychological stress associated with the possibility of identifying genetic risks. The evidence obtained was peer-reviewed by the Genetics Committee of The Society of Obstetricians and Gynaecologists of Canada. Consideration for Care Statements For this review article, the Consideration for Care Statements use the GRADE strength and quality as it is comparable for the clinician and the patient/public user. [GRADE from the Canadian Task Force on Preventive Health Care (www.canadiantaskforce.ca). For clinicians, Strong = The recommendation would apply to most individuals. Formal discussion aids are not likely to be
Full Text Available Gregory Costain1,2, Anne S Bassett1–41Clinical Genetics Research Program, Centre for Addiction and Mental Health, 2Institute of Medical Science, University of Toronto, 3Division of Cardiology, Department of Medicine and Department of Psychiatry, University Health Network, 4Department of Psychiatry, University of Toronto, Toronto, Ontario, CanadaAbstract: Schizophrenia is a complex neuropsychiatric disease with documented clinical and genetic heterogeneity, and evidence for neurodevelopmental origins. Driven by new genetic technologies and advances in molecular medicine, there has recently been concrete progress in understanding some of the specific genetic causes of this serious psychiatric illness. In particular, several large rare structural variants have been convincingly associated with schizophrenia, in targeted studies over two decades with respect to 22q11.2 microdeletions, and more recently in large-scale, genome-wide case-control studies. These advances promise to help many families afflicted with this disease. In this review, we critically appraise recent developments in the field of schizophrenia genetics through the lens of immediate clinical applicability. Much work remains in translating the recent surge of genetic research discoveries into the clinic. The epidemiology and basic genetic parameters (such as penetrance and expression of most genomic disorders associated with schizophrenia are not yet well characterized. To date, 22q11.2 deletion syndrome is the only established genetic subtype of schizophrenia of proven clinical relevance. We use this well-established association as a model to chart the pathway for translating emerging genetic discoveries into clinical practice. We also propose new directions for research involving general genetic risk prediction and counseling in schizophrenia.Keywords: schizophrenia, genetics, 22q11 deletion syndrome, copy number variation, genetic counseling, genetic predisposition to disease
Granato, Laura A,
Family systems counseling is a powerful and beneficial counseling technique that has been effective in treating families of children with learning disabilities. Family counseling has been effective in many settings, but has not been explored as a school counselor intervention. This research is a qualitative study exploring school counselorsâ experiences and perceptions while providing family counseling to families of children with learning disabilities. This counseling included a minimum...
Brøndum-Nielsen, Karen; Jensen, Hanne; Timshel, Susanne
Advances in genetics have made genetic testing in patients with inherited eye disease increasingly accessible, and the initiation of clinical intervention trials makes it increasingly clinically relevant. Based on a multidisciplinary collaboration between ophthalmologists and clinical geneticists......, the extensive register of families with monogenic inherited eye diseases at the National Eye Clinic of the Kennedy Center in Denmark provides a valuable asset waiting to be exploited in the global effort to reduce blindness caused by genetic defects....
Clift, Kristin; Guthrie, Kimberly; Klee, Eric W; Boczek, Nicole; Cousin, Margot; Blackburn, Patrick; Atwal, Paldeep
Here we present a case of an asymptomatic 53-year-old woman who sought genetic testing for Familial Creutzfeldt-Jakob Disease (fCJD) after learning that her mother had fCJD. The patient's mother had a sudden onset of memory problems and rapidly deteriorating mental faculties in her late 70s, which led to difficulties ambulating, progressive non-fluent aphasia, dysphagia and death within ∼1 y of symptom onset. The cause of death was reported as "rapid onset dementia." The patient's family, unhappy with the vague diagnosis, researched prion disorders online and aggressively pursued causation and submitted frozen brain tissue from the mother to the National Prion Disease Surveillance Center, where testing revealed a previously described 5-octapeptide repeat insertion (5-OPRI) in the prion protein gene (PRNP) that is known to cause fCJD. The family had additional questions about the implications of this result and thus independently sought out genetic counseling. While rare, fCJD is likely underdiagnosed due to clinical heterogeneity, rapid onset, early non-specific symptomatology, and overlap in the differential diagnosis of Alzheimer disease and Lewy body dementias. When fCJD is identified, a multidisciplinary approach to return of results that includes the affected patient's provider, genetics professionals, and mental health professionals is key to the care of the family. We present an example case which discusses the psychosocial issues encountered and the role of genetic counseling in presymptomatic testing for incurable neurodegenerative conditions. Ordering physicians should be aware of the basic issues surrounding presymptomatic genetic testing and identify local genetic counseling resources for their patients.
Diness, Birgitte Rode; Overbeck, Gritt; Duelund, T.
Background and aim: The ability to measure patient outcomes from genetic counselling is a prerequisite for evidencebased development of practice. The Genetic Counselling Outcome Scale (GCOS-24) is a recently developed patient reported outcome measure. The aim of this project was to develop a Danish...... perception of genetic counseling and genetic conditions and led to adjustments of the original translation, leading to development of a tool better-suited to the target population. We would recommend the described approach when attempting translation of patient reported outcome measures...
Hooker, Gillian W.; Babu, D; Myers, MF; Zierhut, H; McAllister, M
As the demand for evidence to support the value of genetic counseling increases, it is critical that reporting of genetic counseling interventions in research and other types of studies (e.g. process improvement or service evaluation studies) adopt greater rigor. As in other areas of healthcare, the appraisal, synthesis, and translation of research findings into genetic counseling practice are likely to be improved if clear specifications of genetic counseling interventions are reported when ...
Rantala, Johanna; Platten, Ulla; Lindgren, Gunilla; Nilsson, Bo; Arver, Brita; Lindblom, Annika; Brandberg, Yvonne
Counselees are more aware of genetics and seek information, reassurance, screening and genetic testing. Risk counseling is a key component of genetic counseling process helping patients to achieve a realistic view for their own personal risk and therefore adapt to the medical, psychological and familial implications of disease and to encourage the patient to make informed choices 12.The aim of this study was to conceptualize risk perception and anxiety about cancer in individuals attending to genetic counseling. The questionnaire study measured risk perception and anxiety about cancer at three time points: before and one week after initial genetic counseling and one year after completed genetic investigations. Eligibility criteria were designed to include only index patients without a previous genetic consultation in the family. A total of 215 individuals were included. Data was collected during three years period. Before genetic counseling all of the unaffected participants subjectively estimated their risk as higher than their objective risk. Participants with a similar risk as the population overestimated their risk most. All risk groups estimated the risk for children's/siblings to be lower than their own. The benefits of preventive surveillance program were well understood among unaffected participants.The difference in subjective risk perception before and directly after genetic counseling was statistically significantly lower in all risk groups. Difference in risk perception for children as well as for population was also statistically significant. Experienced anxiety about developing cancer in the unaffected subjects was lower after genetic counseling compared to baseline in all groups. Anxiety about cancer had clear correlation to perceived risk of cancer before and one year after genetic investigations.The affected participants overestimated their children's risk as well as risk for anyone in population. Difference in risk perception for children
Full Text Available Abstract Background Counselees are more aware of genetics and seek information, reassurance, screening and genetic testing. Risk counseling is a key component of genetic counseling process helping patients to achieve a realistic view for their own personal risk and therefore adapt to the medical, psychological and familial implications of disease and to encourage the patient to make informed choices 12. The aim of this study was to conceptualize risk perception and anxiety about cancer in individuals attending to genetic counseling. Methods The questionnaire study measured risk perception and anxiety about cancer at three time points: before and one week after initial genetic counseling and one year after completed genetic investigations. Eligibility criteria were designed to include only index patients without a previous genetic consultation in the family. A total of 215 individuals were included. Data was collected during three years period. Results Before genetic counseling all of the unaffected participants subjectively estimated their risk as higher than their objective risk. Participants with a similar risk as the population overestimated their risk most. All risk groups estimated the risk for children's/siblings to be lower than their own. The benefits of preventive surveillance program were well understood among unaffected participants. The difference in subjective risk perception before and directly after genetic counseling was statistically significantly lower in all risk groups. Difference in risk perception for children as well as for population was also statistically significant. Experienced anxiety about developing cancer in the unaffected subjects was lower after genetic counseling compared to baseline in all groups. Anxiety about cancer had clear correlation to perceived risk of cancer before and one year after genetic investigations. The affected participants overestimated their children's risk as well as risk for anyone in
Garg, Rahul; Vogelgesang, Joseph; Kelly, Kimberly
Despite the importance of altruism in an individual’s participation in genetic counseling and testing, little research has explored the change in altruistic motivations to test over time. This study analyzed altruistic motivations to test and change in altruistic motivations after genetic counseling and testing among individuals (N=120) at elevated risk for BRCA1/2 mutations. The perceived benefits of genetic testing were assessed and utilized in a mixed-methods, repeated measures design at three time points: pre-counseling, counseling and post-genetic testing, along with transcripts of genetic counseling sessions. Qualitative analysis using an immersion/crystallization method resulted in six common perceived benefits of testing: cancer prevention, awareness, family’s survival, relief from anxiety, for science, and future planning. Perceived benefits were then coded into three categories according to Hamilton’s kin selection theory: altruistic motivation, personal motivation, and motivation for mutual benefit. At pre-counseling, those with a personal cancer history (p=0.003) and those with one or more children (p=.013), were significantly more likely to cite altruistic motivations to test. Altruistic motivations significantly increased post-counseling (p=0.01) but declined post-testing (paltruistic and personal motivations. The possibility of a positive test result might have led those with personal history of cancer to have altruistic motivations for testing. Genetic counseling may have increased altruistic motivations to help family and may be a prime opportunity to discuss other forms of altruism. PMID:26578231
Mikkelsen, Ellen M; Sunde, Lone; Johansen, Christoffer
. CONCLUSION: This population-based study of women with a family history of breast or ovarian cancer indicates that genetic counseling can help them both to reduce their perceived risk and to achieve a more realistic view of their risk of developing breast cancer. Udgivelsesdato: 2007-null......BACKGROUND: We aimed to explore the impact of genetic counseling on perceived personal lifetime risk of breast cancer, the accuracy of risk perception, and possible predictors of inaccurate risk perception 1 year following counseling. METHODS: We conducted a population-based prospective follow......-up study of 213 women who received genetic counseling for hereditary breast and ovarian cancer, 319 women who underwent mammography (Reference Group I), and a random sample of 1070 women from the general population (Reference Group II). RESULTS: Women who received genetic counseling decreased...
van der Giessen, J A M; van Riel, E; Velthuizen, M E; van Dulmen, A M; Ausems, M G E M
Participation rates in cancer genetic counseling differ among populations, as patients with a lower educational background and migrant patients seem to have poorer access to it. We conducted a study to determine the present-day educational level and migrant status of counselees referred to cancer genetic counseling. We assessed personal characteristics and demographics of 731 newly referred counselees. Descriptive statistics were used to describe these characteristics. The results show that about 40% of the counselees had a high educational level and 89% were Dutch natives. Compared to the Dutch population, we found a significant difference in educational level (p = counseling and as a result of that, suboptimal care for vulnerable groups. Limited health literacy is likely to pose a particular challenge to cancer genetic counseling for counselees with a lower education or a migrant background. Our study points to considerable scope for improvement in referring vulnerable groups of patients for cancer genetic counseling.
Jenkins, Sian; Arribas-Ayllon, Michael
Genetic counselling is not routinely offered for psychiatric disorders in the United Kingdom through NHS regional clinical genetics departments. However, recent genomic advances, confirming a genetic contribution to mental illness, are anticipated to increase demand for psychiatric genetic counselling. This is the first study of its kind to employ qualitative methods of research to explore accounts of psychiatric health professionals regarding the prospects for genetic counselling services within clinical psychiatry in the UK. Data were collected from 32 questionnaire participants, and 9 subsequent interviewees. Data analysis revealed that although participants had not encountered patients explicitly demanding psychiatric genetic counselling, psychiatric health professionals believe that such a service would be useful and desirable. Genomic advances may have significant implications for genetic counselling in clinical psychiatry even if these discoveries do not lead to genetic testing. Psychiatric health professionals describe clinical genetics as a skilled profession capable of combining complex risk communication with much needed psychosocial support. However, participants noted barriers to the implementation of psychiatric genetic counselling services including, but not limited to, the complexities of uncertainty in psychiatric diagnoses, patient engagement and ethical concerns regarding limited capacity.
Allen, Jill Fonda; Stoll, Katie; Bernhardt, Barbara A
Genetic carrier screening, prenatal screening for aneuploidy and prenatal diagnostic testing have expanded dramatically over the past two decades. Driven in part by powerful market forces, new complex testing modalities have become available after limited clinical research. The responsibility for offering these tests lies primarily on the obstetrical care provider, and has become more burdensome as the number of testing options expands. Genetic testing in pregnancy is optional, and decisions about undergoing tests, as well as follow-up testing, should be informed and based on individual patients’ values and needs. Careful pre- and post-test counseling is central to supporting informed decision-making. This article explores three areas of technical expansion in genetic testing: expanded carrier screening, non-invasive prenatal screening for fetal aneuploidies using cell-free DNA, and diagnostic testing using fetal chromosomal microarray testing, and provides insights aimed at enabling the obstetrical practitioner to better support patients considering these tests. PMID:26718445
Patterson, Annette; Satz, Martha
This essay examines the possible systematic bias against the disabled in the structure and practice of genetic counseling. Finding that the profession's "nondirective" imperative remains problematic, the authors recommend that methodology developed by feminist standpoint epistemology be used to incorporate the perspective of disabled individuals in genetic counselors' education and practice, thereby reforming society's view of the disabled and preventing possible negative effects of genetic counseling on the self-concept and material circumstance of disabled individuals.
Genetics Health Professionals' Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools.
Paneque, M; Mendes, Á; Guimarães, L; Sequeiros, J; Skirton, H
Quality assessment of genetic counseling practice for improving healthcare is a challenge for genetic services worldwide; however, there is scarce literature regarding quality issues in genetic counseling in the context of presymptomatic testing for late-onset neurological diseases (Paneque et al. 2012) The aims of this qualitative study were to: (1) explore the views of professionals' who provide genetic counseling services for presymptomatic testing for late-onset neurological diseases regarding relevant quality indicators for counseling practice; and (2) examine current assessment of such counseling practice for Portuguese genetic services. Quality indicators are a means of measuring either the process or outcomes of patient services, with the aim of evaluating and improving quality of care (Mainz 2003). In this study, we defined quality indicators as measurable outcomes of the counseling process that may reflect good professional practice and desirable end-term effects. We undertook interviews with 18 genetic health professionals (85 % of all genetic counseling professionals involved) from the major genetic services in Portugal. Results indicate that professionals valued some core components of genetic counseling, including providing information and decision-making support, informing the consultand about the genetic counseling protocol, as well as exploring motivations, expectations for test results, consequent anticipated life changes, psychosocial adjustment, and personal and familial experience with the disease. Professionals were not, however, able to clearly elucidate quality indicators for effective practice and some reported they had not reflected on that topic before. Professionals also reported specific challenges in their practice, such as ambiguity of the health/illness status and affirming consultands' autonomy. Results of the study have revealed a lack of knowledge about quality indicators and tools to assess counseling practice. A credible set of
Fournier, Danielle M; Bazzell, Angela F; Dains, Joyce E
Genetic counseling is vital in helping people at high risk for hereditary breast and ovarian cancer (HBOC) make informed decisions to undergo BRCA testing. Many people, particularly those in rural locations, lack access to these services. This review examines evidence to determine if remotely delivered genetic counseling via telephone or telemedicine is an effective alternative to in-person counseling for people who are at high risk for HBOC. . A literature review was completed by searching PubMed, SCOPUS, and CINAHL® databases. . 151 articles were identified from the search, and 7 were included in the review. . Patients' BRCA knowledge acquisition, cancer-specific distress, anxiety, depression, and satisfaction with mode of counseling delivery were equivalent between in-person and remotely delivered counseling groups. Genetic testing rates were significantly higher in participants receiving in-person counseling. Remotely delivered genetic counseling was more convenient and less expensive. Mixed outcomes existed regarding counselor-patient communication. . The demand for genetic counseling will grow as advances in cancer genomics reveal genes that may contribute to cancer predisposition. Innovative delivery models are necessary to ensure that all people have access to care.
Reed, Amy R
This article analyzes narrative illustrations in genetic counseling textbooks as a way of understanding professional habitus--the dispositions that motivate professional behavior. In particular, this analysis shows that there are significant differences in how the textbooks' expository and narrative portions represent Down syndrome, genetic counseling practice, and patient behaviors. While the narrative portions of the text position the genetic counseling profession as working in service to the values of genetic medicine, the expository portions represent genetic counselors as neutral parties. Ultimately, this article argues that this ambiguity is harmful to the production of a professional habitus that is consistent with espoused professional values concerning respect for persons with disabilities and the promotion of psychosocial counseling.
Costain, Gregory; Bassett, Anne S
Schizophrenia is a complex neuropsychiatric disease with documented clinical and genetic heterogeneity, and evidence for neurodevelopmental origins. Driven by new genetic technologies and advances in molecular medicine, there has recently been concrete progress in understanding some of the specific genetic causes of this serious psychiatric illness. In particular, several large rare structural variants have been convincingly associated with schizophrenia, in targeted studies over two decades with respect to 22q11.2 microdeletions, and more recently in large-scale, genome-wide case-control studies. These advances promise to help many families afflicted with this disease. In this review, we critically appraise recent developments in the field of schizophrenia genetics through the lens of immediate clinical applicability. Much work remains in translating the recent surge of genetic research discoveries into the clinic. The epidemiology and basic genetic parameters (such as penetrance and expression) of most genomic disorders associated with schizophrenia are not yet well characterized. To date, 22q11.2 deletion syndrome is the only established genetic subtype of schizophrenia of proven clinical relevance. We use this well-established association as a model to chart the pathway for translating emerging genetic discoveries into clinical practice. We also propose new directions for research involving general genetic risk prediction and counseling in schizophrenia.
Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V.; van Langen, Irene M.
In recent years, online counselling has been introduced in clinical genetics to increase patients' access to care and to reduce time and cost for both patients and professionals. Most telegenetics reports so far evaluated online oncogenetic counselling at remote health centres in regions with large
Yin, H Shonna; Gupta, Ruchi S; Tomopoulos, Suzy; Mendelsohn, Alan L; Egan, Maureen; van Schaick, Linda; Wolf, Michael S; Sanchez, Dayana C; Warren, Christopher; Encalada, Karen; Dreyer, Benard P
The use of written asthma action plans (WAAPs) has been associated with reduced asthma-related morbidity, but there are concerns about their complexity. We developed a health literacy-informed, pictogram- and photograph-based WAAP and examined whether providers who used it, with no training, would have better asthma counseling quality compared with those who used a standard plan. Physicians at 2 academic centers randomized to use a low-literacy or standard action plan (American Academy of Allergy, Asthma and Immunology) to counsel the hypothetical parent of child with moderate persistent asthma (regimen: Flovent 110 μg 2 puffs twice daily, Singulair 5 mg daily, Albuterol 2 puffs every 4 hours as needed). Two blinded raters independently reviewed counseling transcriptions. medication instructions presented with times of day (eg, morning and night vs number of times per day) and inhaler color; spacer use recommended; need for everyday medications, even when sick, addressed; and explicit symptoms used. 119 providers were randomly assigned (61 low literacy, 58 standard). Providers who used the low-literacy plan were more likely to use times of day (eg, Flovent morning and night, 96.7% vs 51.7%, P counseling time was similar (3.9 [2.5] vs 3.8 [2.6] minutes, P = .8). Use of a low-literacy WAAP improves the quality of asthma counseling by helping providers target key issues by using recommended clear communication principles. Copyright © 2016 by the American Academy of Pediatrics.
Devido, Jessica A; Doswell, Willa M; Braxter, Betty J; Spatz, Diane L; Dorman, Janice S; Terry, Martha Ann; Charron-Prochownik, Denise
To explore the role and experiences of the parish nurse in providing diabetes education and preconception counseling to women with diabetes. Mixed-methods concurrent embedded design. Focus groups of community-based parish nurses accessed from a regional database (Pennsylvania, Florida, Ohio, New York, Arizona, and Minnesota). Forty-eight parish nurses recruited from the Parish Nurse and Health Ministry Program database in Western Pennsylvania. The primary method was focus groups using face-to-face, teleconference, and videoconferencing formats. A secondary method used a quantitative descriptive design with three self-report measures (demographic, preconception counseling self-efficacy, and preconception counseling knowledge). Qualitative content analysis techniques were conducted and combined with descriptive analysis. Forty-eight parish nurses participated in 1 of 11 focus groups. Eight qualitative themes emerged: Awareness, Experience, Formal Training, Usefulness, Willingness, Confidence, "Wise Women," and Preconception Counseling Tool for Patients. Participants provided recommendations for training and resources to increase their knowledge and skills. Parish nurses' knowledge scores were low (mean = 66%, range = 40%-100%) with only moderate levels of self-efficacy (mean = 99, range = 27-164). Self-efficacy had a significantly positive association with knowledge (r = .29, p = .05). Quantitative results were consistent with participants' qualitative statements. Parish nurses were unaware of preconception counseling and lacked knowledge and teaching self-efficacy as it related to preconception counseling and diabetes education. Understanding parish nurses' experiences with women with diabetes and identifying their needs to provide education and preconception counseling will help tailor training interventions that could affect maternal and fetal outcomes. Copyright © 2017 AWHONN, the Association of Women’s Health, Obstetric and Neonatal Nurses. Published
Katki Hormuzd A
Full Text Available Abstract Background Mendelian models for predicting who may carry an inherited deleterious mutation of known disease genes based on family history are used in a variety of clinical and research activities. People presenting for genetic counseling are increasingly reporting risk-reducing medical interventions in their family histories because, recently, a slew of prophylactic interventions have become available for certain diseases. For example, oophorectomy reduces risk of breast and ovarian cancers, and is now increasingly being offered to women with family histories of breast and ovarian cancer. Mendelian models should account for medical interventions because interventions modify mutation penetrances and thus affect the carrier probability estimate. Methods We extend Mendelian models to account for medical interventions by accounting for post-intervention disease history through an extra factor that can be estimated from published studies of the effects of interventions. We apply our methods to incorporate oophorectomy into the BRCAPRO model, which predicts a woman's risk of carrying mutations in BRCA1 and BRCA2 based on her family history of breast and ovarian cancer. This new BRCAPRO is available for clinical use. Results We show that accounting for interventions undergone by family members can seriously affect the mutation carrier probability estimate, especially if the family member has lived many years post-intervention. We show that interventions have more impact on the carrier probability as the benefits of intervention differ more between carriers and non-carriers. Conclusion These findings imply that carrier probability estimates that do not account for medical interventions may be seriously misleading and could affect a clinician's recommendation about offering genetic testing. The BayesMendel software, which allows one to implement any Mendelian carrier probability model, has been extended to allow medical interventions, so future
Full Text Available Abstract Background Counselling human immunodeficiency virus (HIV positive mothers on safer infant and young child feeding (IYCF options is an important component of programmes to prevent mother to child transmission of HIV, but the quality of counselling is often inadequate. The aim of this study was to determine the effect the World Health Organization HIV and infant feeding cards on the quality of counselling provided to HIV positive mothers by health workers about safer infant feeding options. Method This was a un-blinded cluster-randomized controlled field trial in which 36 primary health facilities in Kafue and Lusaka districts in Zambia were randomized to intervention (IYCF counselling with counselling cards or non- intervention arm (IYCF counselling without counselling cards. Counselling sessions with 10 HIV positive women attending each facility were observed and exit interviews were conducted by research assistants. Results Totals of 180 women in the intervention group and 180 women in the control group were attended to by health care providers and interviewed upon exiting the health facility. The health care providers in the intervention facilities more often discussed the advantages of disclosing their HIV status to a household member (RR = 1.46, 95% CI [1.11, 1.92]; used visual aids in explaining the risk of HIV transmission through breast milk (RR = 4.65, 95% CI [2.28, 9.46]; and discussed the advantages and disadvantages of infant feeding options for HIV positive mothers (all p values Conclusion The addition of counselling cards to the IYCF counselling session for HIV positive mothers were a valuable aid to counselling and significantly improved the quality of the counselling session.
Expert-reviewed information summary in which cancer risk perception, risk communication, and risk counseling are discussed. The summary also contains information about recording and analyzing a family history of cancer and factors to consider when offering genetic testing.
Kessels, K.; Eisinger, J.D.; Letteboer, T.G.; Offerhaus, G.J.; Siersema, P.D.; Moons, L.M.
OBJECTIVES: To investigate whether sending a family history questionnaire to patients prior to undergoing colonoscopy results in an increased availability of family history and better genetic counseling. METHODS: A questionnaire was mailed to patients before they underwent outpatient colonoscopy at
Kessels, Koen; Eisinger, Joey D; Letteboer, Tom G|info:eu-repo/dai/nl/304815837; Offerhaus, G Johan A; Siersema, Peter D|info:eu-repo/dai/nl/110603826; Moons, Leon M G
OBJECTIVES: To investigate whether sending a family history questionnaire to patients prior to undergoing colonoscopy results in an increased availability of family history and better genetic counseling. METHODS: A questionnaire was mailed to patients before they underwent outpatient colonoscopy at
Tang, Longmei; Wu, Shangchun; Li, Jiong
/doctor' [1.99 (1.01,3.92), 2.32 (1.22,4.40) and 2.34 (1.06,5.17), respectively]. Conclusions: The majority of providers could provide PAFP counselling to women undergone an abortion, but some of them had insufficient time to make it available. Education, knowledge about fertility and reproductive health...
Bassett, Anne S.
Background: Myths and concerns about the extent and meaning of genetic risk in schizophrenia may contribute to significant stigma and burden for families. Genetic counseling has long been proposed to be a potentially informative and therapeutic intervention for schizophrenia. Surprisingly, however, available data are limited. We evaluated a contemporary genetic counseling protocol for use in a community mental health-care setting by non–genetics professionals. Methods: We used a pre-post study design with longitudinal follow-up to assess the impact of genetic counseling on family members of individuals with schizophrenia, where molecular testing had revealed no known clinically relevant genetic risk variant. We assessed the outcome using multiple measures, including standard items and scales used to evaluate genetic counseling for other complex diseases. Results: Of the 122 family members approached, 78 (63.9%) actively expressed an interest in the study. Participants (n = 52) on average overestimated the risk of familial recurrence at baseline, and demonstrated a significant improvement in this estimate postintervention (P test results or professional genetics services. The findings support the integration of contemporary genetic counseling for families into the general management of schizophrenia in the community. PMID:23104866
Burchill, Luke; Greenway, Steven; Silversides, Candice K; Mital, Seema
New discoveries using high-resolution methods for detecting genetic aberrations indicate that the genetic contribution to congenital heart disease has been significantly underestimated in the past. DNA diagnostics have become more accessible and genetic test results are increasingly being used to guide clinical management. Adult congenital heart disease specialists seeking to counsel adults with congenital heart disease about the genetic aspects of their condition face the challenge of keeping abreast of new genetic techniques and discoveries. The emphasis of this review is on the genetic basis of structural cardiovascular defects. A framework for identifying adult congenital heart disease patients most likely to benefit from genetic testing is suggested, along with a summary of current techniques for genetic testing. The clinical and ethical challenges associated with genetic counseling are highlighted. Finally, emerging technologies and future directions in genetics and adult congenital heart disease are discussed.
Gallagher, Lauren; McCuaig, Jeanna; Benoit, Lacey; Davies, Christine
Social Media is a powerful and emerging method of communication that is becoming increasingly popular in genetic counseling and other health care communities. Despite its multiple benefits, the Social Media revolution has been met with some resistance in the healthcare setting. Herein, we will describe the potential benefits of Social Media for the genetic counseling profession specifically and explore ways in which any risks can be mitigated and barriers overcome to ensure responsible Social Media use by the profession.
Crook, Ashley; Williams, Kelly; Adams, Lorel; Blair, Ian; Rowe, Dominic B
Once a gene mutation that is causal of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) is identified in a family, relatives may decide to undergo predictive genetic testing to determine whether they are at risk of developing disease. Recent advances in gene discovery have led to a pressing need to better understand the implications of predictive genetic testing. Here we review the uptake of genetic counselling, predictive and reproductive testing, and the factors that impact the decision to undergo testing, for consideration in clinical practice. The literature suggests that the factors impacting the decision to undergo testing are complex due to the nature of these diseases, absence of available preventative medical treatment and variable age of onset in mutation carriers. Gaining further insight into the decision-making process and the impact of testing is critical as we seek to develop best-practice guidelines for predictive testing for familial ALS and FTD.
Lutsiv, Olha; Bracken, Keyna; Pullenayegum, Eleanor; Sword, Wendy; Taylor, Valerie H; McDonald, Sarah D
To determine the self-reported counselling practices of health care providers with regard to prenatal weight gain and the risks of inappropriate gain. We conducted a cross-sectional survey using a self-administered questionnaire at obstetrician, midwifery, and family medicine clinics in Hamilton, Ontario. Health care providers were eligible to participate if they provided prenatal care and could read English sufficiently well to complete the survey. Forty-two health care providers completed the survey; of these, 95% reported counselling women to gain a specific amount of weight, and 81% reported that they recommended values that were in accordance with the 2009 Institute of Medicine/Health Canada guidelines. The risks of excess and inadequate gain were reported as being discussed with their patients by 87% and 76% of health care providers, respectively. In this first study to the best of our knowledge of gestational weight gain counselling since the publication of the 2009 guidelines, most health care providers reported discussing weight gain and the risks of inappropriate gain, which is incongruent with previously published information on their patients' reports of counselling.
Hooker, Gillian W; Babu, D; Myers, M F; Zierhut, H; McAllister, M
As the demand for evidence to support the value of genetic counseling increases, it is critical that reporting of genetic counseling interventions in research and other types of studies (e.g. process improvement or service evaluation studies) adopt greater rigor. As in other areas of healthcare, the appraisal, synthesis, and translation of research findings into genetic counseling practice are likely to be improved if clear specifications of genetic counseling interventions are reported when studies involving genetic counseling are published. To help improve reporting practices, the National Society of Genetic Counselors (NSGC) convened a task force in 2015 to develop consensus standards for the reporting of genetic counseling interventions. Following review by the NSGC Board of Directors, the NSGC Practice Guidelines Committee and the editorial board of the Journal of Genetic Counseling, 23 items across 8 domains were proposed as standards for the reporting of genetic counseling interventions in the published literature (GCIRS: Genetic Counseling Intervention Reporting Standards). The authors recommend adoption of these standards by authors and journals when reporting studies involving genetic counseling interventions.
Hornberger, Laurie L
The American Academy of Pediatrics policy statement "Options Counseling for the Pregnant Adolescent Patient" recommends the basic content of the pediatrician's counseling for an adolescent facing a new diagnosis of pregnancy. However, options counseling is just one aspect of what may be one of the more challenging scenarios in the pediatric office. Pediatricians must remain alert to the possibility of pregnancy among their adolescent female patients. When discovering symptoms suggestive of pregnancy, pediatricians must obtain a relevant history, perform diagnostic testing and properly interpret the results, and understand the significance of the results from the patient perspective and reveal them to the patient in a sensitive manner. If the patient is indeed pregnant, the pediatrician, in addition to providing comprehensive options counseling, may need to help recruit adult support for the patient and should offer continued assistance to the adolescent and her family after the office visit. All pediatricians should be aware of the legal aspects of adolescent reproductive care and the resources for pregnant adolescents in their communities. This clinical report presents a more comprehensive view of the evaluation and management of pregnancy in the adolescent patient and a context for options counseling. Copyright © 2017 by the American Academy of Pediatrics.
Parental imprinting and the type of the genetic alteration play a determinant role in the phenotype expression of GNAS locus associated to pseudohypoparathyroidism (PHP). GNAS locus gives rise to several different messenger RNA transcripts that are derived from the paternal allele, the maternal allele, or both and can be either coding or non-coding. As a consequence, GNAS mutations lead to a wide spectrum of phenotypes. An alteration in the coding sequence of the gene leads to a haplo-insufficiency and a dysmorphic phenotype (Albright's syndrome or AHO). AHO is a clinical syndrome defined by specific physical features including short stature, obesity, round-shaped face, subcutaneous ossifications, brachymetarcapy (mainly of the 4th and 5th ray). If the alteration is on the maternal allele, there is a hormonal resistance to the PTH at the kidney level and to the TSH at the thyroid level. The phenotype is known as pseudohypoparathyroidism type 1a (PHP1a). If the alteration is on the paternal allele, there are few clinical signs with no hormonal resistance and the phenotype is known as pseudopseudo hypoparathyroidism (pseudo-PPHP). Heterozygous GNAS mutations on the paternal GNAS allele were associated with intra uterin growth retardation (IUGR). Moreover, birth weights were lower with paternal GNAS mutations affecting exon 2-13 than with exon 1/intron 1 mutations suggesting a role for loss of function XLαs. Progressive osseous heteroplasia (POH) is a rare disease of ectopic bone formation, characterized by cutaneous and subcutaneous ossifications progressing towards deep connective and muscular tissues. POH is caused by a heterozygous GNAS inactivating mutation and has been associated with paternal inheritance. However, genotype/phenotype correlations suggest that there is no direct correlation between the ossifying process and parental origin, as there is high variability in heterotopic ossification. Clinical heterogeneity makes genetic counseling a very delicate
Kading, Cherri L; Wilder, Rebecca S; Vann, William F; Curran, Alice E
Obesity is a major public health issue in the United States. Dental hygienists influence their patients' oral health by providing dietary and behavioral recommendations that encourage good oral health practices. However, it is not known if they are ready to provide behavioral counseling strategies for weight loss. This study investigates whether dental hygienists in North Carolina are confident to counsel patients who are at-risk for obesity. A questionnaire was used to survey 246 dental hygienists attending a continuing education (CE) course. It investigated self-reported confidence in providing obesity counseling, educational preparation, outcome expectations and self-efficacy. The primary outcome was confidence in providing weight loss counseling. Mantel Haenszel statistics were used to compare group of interest. Of the dental hygienists surveyed, 43% perceived an increase of overweight patients in their practices. Nearly all (95%) felt that dental hygienists have a role in helping patients improve nutrition. Over half (65%) expressed confidence in discussing obesity-related health risks. On average, the confidence in getting patients to follow weight loss advice was significantly different (p=0.02) for those with a 2 year degree and those with a 4 year degree. The findings indicate that many North Carolina dental hygienists are willing to discuss obesity with patients.
Manirankunda, Lazare; Loos, Jasna; Debackaere, Pieterjan; Nostlinger, Christiana
This study identified physicians' HIV testing practices and their barriers toward implementing provider-initiated HIV testing and counseling (PITC) for Sub-Saharan African migrants (SAM) in Flanders, Belgium. In-depth interviews were conducted on a purposive sample of 20 physicians (ten GPs and ten internists). GPs performed mainly…
Background. Early initiation of antiretroviral therapy reduces transmission of HIV and prolongs life. Expansion of HIV testing is therefore pivotal in overcoming the HIV pandemic. Provider-initiated counselling and testing (PICT) at first clinical contact is one way of increasing the number of individuals tested. Our impression is ...
Adam Hudson Buchanan
Full Text Available Demand for cancer genetic counseling has grown rapidly in recent years as germline genomic information has become increasingly incorporated into cancer care and the field has entered the public consciousness through high-profile celebrity publications. Increased demand and existing variability in the availability of trained cancer genetics clinicians place a priority on developing and evaluating alternate service delivery models for genetic counseling. This mini-review summarizes the state of science regarding service delivery models such as telephone counseling, telegenetics and group counseling. Research on comparative effectiveness of these models in traditional individual, in-person genetic counseling has been promising for improving access to care in a manner acceptable to patients. Yet, it has not fully evaluated the short- and long-term patient- and system-level outcomes that will help answer the question of whether these models achieve the same beneficial psychosocial and behavioral outcomes as traditional cancer genetic counseling. We propose a research agenda focused on comparative effectiveness of available service delivery models and how to match models to patients and practice settings. Only through this rigorous research can clinicians and systems find the optimal balance of clinical quality, ready and secure access to care, and financial sustainability. Such research will be integral to achieving the promise of genomic medicine in oncology.
Fischer, Dena J; Koerber, Anne
Diabetes mellitus is a major public health concern for the U.S. population because of its high prevalence and long-term health implications. The purpose of this study was to apply the Theory of Planned Behavior (TPB) to assess dental faculty member and student willingness to provide diabetes education and counseling to patients in a dental school. A survey was administered to dental students (n=101 respondents) and faculty members (n=39 respondents), and summary scores for seven diabetic educational activities and TPB constructs were calculated and analyzed. Participants were most willing to refer a patient to a physician for treatment and provide basic information about diabetes and oral health, and they were least willing to provide basic information about diabetic medications. Importance, self-efficacy, and barriers constructs predicted willingness to perform diabetic educational or counseling activities. Our findings suggest that, when developing innovative approaches to expand diabetic education and counseling in our dental education environment, programs should demonstrate how diabetic counseling can improve patients' health and should include diabetic management skills-building in the curriculum.
Schuler-Faccini, Lavínia; Osorio, Claudio Maria; Romariz, Flavia; Paneque, Milena; Sequeiros, Jorge; Jardim, Laura Bannach
Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST) can be used to identify persons at risk of developing the disease. Genetic counseling provides patients with information about the disease, genetic risks, PST, and the decision-making process. In this study, we present the protocol used in PST for MJD and the relevant observations from two centers: Brazil (Porto Alegre) and Portugal (Porto). We provide a case report that illustrates the significant ethical and psychological issues related to PST in late-onset neurological disorders. In both centers, counseling and PST are performed by a multidisciplinary team, and genetic testing is conducted at the same institutions. From 1999 to 2012, 343 individuals sought PST in Porto Alegre; 263 (77%) of these individuals were from families with MJD. In Porto, 1,530 individuals sought PST between 1996 and 2013, but only 66 (4%) individuals were from families with MJD. In Brazil, approximately 50% of the people seeking PST eventually took the test and received their results, whereas 77% took the test in Portugal. In this case report, we highlight several issues that might be raised by the consultand and how the team can extract significant information. Literature about PST testing for MJD and other SCAs is scarce, and we hope this report will encourage similar studies and enable the implementation of PST protocols in other populations, mainly in Latin America.
Full Text Available Machado-Joseph disease (MJD is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST can be used to identify persons at risk of developing the disease. Genetic counseling provides patients with information about the disease, genetic risks, PST, and the decision-making process. In this study, we present the protocol used in PST for MJD and the relevant observations from two centers: Brazil (Porto Alegre and Portugal (Porto. We provide a case report that illustrates the significant ethical and psychological issues related to PST in late-onset neurological disorders. In both centers, counseling and PST are performed by a multidisciplinary team, and genetic testing is conducted at the same institutions. From 1999 to 2012, 343 individuals sought PST in Porto Alegre; 263 (77% of these individuals were from families with MJD. In Porto, 1,530 individuals sought PST between 1996 and 2013, but only 66 (4% individuals were from families with MJD. In Brazil, approximately 50% of the people seeking PST eventually took the test and received their results, whereas 77% took the test in Portugal. In this case report, we highlight several issues that might be raised by the consultand and how the team can extract significant information. Literature about PST testing for MJD and other SCAs is scarce, and we hope this report will encourage similar studies and enable the implementation of PST protocols in other populations, mainly in Latin America.
Petrin, Christine; Kahan, Scott; Turner, Monique; Gallagher, Christine; Dietz, William H
Relatively few patients receive obesity counselling consistent with the USPSTF guidelines, and many health care professionals (HCPs) are biased in their attitudes towards obesity management. A national sample of family physicians, internists, OB/GYN physicians, and nurse practitioners (NPs) completed a web-based survey of beliefs, practice, and knowledge regarding obesity management. A majority of HCPs believe that it is both the patient's and the provider's responsibility to ensure that the patient is counselled about obesity. Obesity (77%), obesity-related diseases (79%), or obesity-related risk factors (71%) prompt HCPs to offer obesity counselling; 59% of HCPs wait for the patient to broach the subject of their weight. Increased blood pressure (89%) and heart disease risks (90%) are the most common themes in counselling. Across all HCPs except NPs "exercise" is discussed more frequently than "physical activity" (85% vs 81%), "diet" more frequently than "eating habits" (77% vs 75%), and "obesity" more frequently than "unhealthy weight" (60% vs 45%). NPs are more likely to discuss physical activity, eating habits, and unhealthy weight instead. To improve counselling for obesity, HCPs reported needing more time (70%), training in obesity management (53%), improved reimbursement (53%), and better tools to help patients recognise obesity risks (50%). Obesity-related diseases, risk factors, or obesity alone predict obesity counselling amongst HCPs. Better training in weight management and tools to help patients recognise risks appear to be key elements in helping patients compare the risks of what they may consider invasive therapy against the risks of continued obesity. Copyright © 2016 Asia Oceania Association for the Study of Obesity. Published by Elsevier Ltd. All rights reserved.
Eijzenga, Willem; Aaronson, Neil K; Kluijt, Irma; Sidharta, Grace N; Hahn, Daniela Ee; Ausems, Margreet Gem; Bleiker, Eveline Ma
distress, specific psychosocial problems, satisfaction with care received, and experience using the PAHC questionnaire. This study will provide empirical evidence regarding the efficacy of a relatively brief psychosocial screening questionnaire in terms of facilitating personalized communication, increasing counselors' awareness, and optimizing management of psychosocial problems in the cancer genetic counseling setting. This study is registered at the Netherlands Trial Register (NTR3205) and ClinicalTrials.gov (NCT01562431).
Giesler, JürgenM; Weis, Joachim; Schreib, Melanie; Eichhorn, Svenja; Kuhnt, Susanne; Faust, Tanja; Mehnert, Anja; Ernst, Jochen
Psychosocial cancer counseling centers represent an increasingly important part of comprehensive psychosocial cancer care. Research on the services provided by those centers is sparse, however, as is research on person-, disease-, and treatment-related characteristics of their clients. Therefore, the present study analyzes the services provided by 26 psychosocial cancer counseling centers temporarily being funded by the German Cancer Aid as well as selected characteristics of their clients. Analyses are based on data collected during 2011 by means of a documentation system specifically designed for the purposes of psychosocial cancer counseling. Testing focuses on whether cancer patients and cancer patients' relatives differ with respect to various characteristics and the services used. The results show that psychosocial and benefit counseling represent a major part of counseling services, followed by giving information and employing relaxation techniques. Clients seek counseling primarily in early phases of disease and treatment. Women with breast cancer are over-represented among clients. Analyses also reveal significant differences between cancer patients and patients' relatives. Psychotherapeutic interventions and grief-counseling are more frequent in counseling relatives, whereas benefit counseling is more frequent in working with patients. The results emphasize the relevance of outpatient psychosocial cancer counseling. They may also help support initiatives aiming at establishing psychosocial cancer counseling targeted to the needs of each individual client. © Georg Thieme Verlag KG Stuttgart · New York.
Jungbluth, Chelsy; Macfarlane, Ian M; Veach, Patricia McCarthy; Leroy, Bonnie S
Stress is an inevitable part of daily life. Studies of graduate student stress exist, but none include genetic counseling students. The present mixed-methods study investigated 225 genetic counseling students' stress and anxiety levels using the State-Trait Anxiety Inventory (STAI; Spielberger et al. 1983), frequency and intensity of stressors associated with their graduate experience, positive and challenging aspects of their experience, and their stress management advice for prospective students. Principal axis factor analysis yielded five conceptual factors underlying the stressors: Professional Uncertainty, Personal Life Events, Interpersonal Demands, Academic Demands, and Isolating Circumstances. Exploratory model fitting using regression yielded four significant predictors accounting for 19% of the variance in state anxiety: (1) trait anxiety, (2) the Interpersonal Demands factor, (3) the Isolating Circumstances factor, and (4) the interaction between the Professional Uncertainty factor and advanced student status. Content analysis of open-ended responses identified several themes. For instance, most students enjoyed what they were learning, interactions with colleagues, and affirmation of their career choice, while certain academic and professional challenges were particularly stressful (e.g., workload, time constraints, clinical rotations). Additional findings, program implications, and research recommendations are provided.
Darst, B F; Madlensky, L; Schork, N J; Topol, E J; Bloss, C S
To describe consumers' perceptions of genetic counseling services in the context of direct-to-consumer personal genomic testing is the purpose of this research. Utilizing data from the Scripps Genomic Health Initiative, we assessed direct-to-consumer genomic test consumers' utilization and perceptions of genetic counseling services. At long-term follow-up, approximately 14 months post-testing, participants were asked to respond to several items gauging their interactions, if any, with a Navigenics genetic counselor, and their perceptions of those interactions. Out of 1325 individuals who completed long-term follow-up, 187 (14.1%) indicated that they had spoken with a genetic counselor. The most commonly given reason for not utilizing the counseling service was a lack of need due to the perception of already understanding one's results (55.6%). The most common reasons for utilizing the service included wanting to take advantage of a free service (43.9%) and wanting more information on risk calculations (42.2%). Among those who utilized the service, a large fraction reported that counseling improved their understanding of their results (54.5%) and genetics in general (43.9%). A relatively small proportion of participants utilized genetic counseling after direct-to-consumer personal genomic testing. Among those individuals who did utilize the service, however, a large fraction perceived it to be informative, and thus presumably beneficial. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Clarke, Alison; Middleton, Anna; Cowley, Lorraine; Guilbert, Penny; Macleod, Rhona; Clarke, Angus; Tran, Van
The Association of Genetic Nurses and Counsellors (AGNC) is the professional organisation which represents genetic counsellors and genetic nurses in the United Kingdom (UK) and Eire. The AGNC recognises that genetic counselling supervision is instrumental to the practice, training and registration of genetic counsellors in the UK. The AGNC formed a Supervision Working Group, whose terms of reference were to collate information on supervision and create a list of 'best practice' recommendations for its genetic counsellor members. This report delivers the findings from the Supervision Working Group and has been peer reviewed by the AGNC membership in the UK and Eire and ratified by the AGNC Committee. It offers a working definition of genetic counselling supervision, gives an overview of some of the literature on supervision and concludes with practice recommendations.
Black Issues in Higher Education, 2005
Black women with a family history of breast cancer are much less likely than Whites to get genetic counseling, in part because of the mistaken notion that the genetic form of the illness is a White woman's disease, researchers say. While breast cancer generally is more common among White women, some data suggest both races have similar rates of…
Laegsgaard, Mett Marri; Mors, Ole
as a guide in this field, but the optimal utilization of genetic testing has also been recognized to depend on knowledge of the potential consumers' attitudes. To provide knowledge to inform the public debate on mental illness and genetics, and the future conducting of psychiatric genetic testing...... contradictions mirroring the bioethical dilemmas recognized in the field and variations in attitudes between groups with different levels of knowledge of genetics, different kinds of experience with mental illness, and different motives and preconceptions regarding psychiatric genetics. The contradictions...... and differences in attitudes among possible future users and providers of psychiatric genetic testing and counseling indicate ambivalence, insecurity, and perceived lack of knowledge in relation to psychiatric genetics. These results should inform further research and the future integration of psychiatric...
Sabbadini, Marta; Naldi, Mariana; Packman, Wendy; Youngblom, Janey; Weil, Jon
International students face social, psychological and academic challenges upon moving to a foreign country to pursue higher education. Clinical disciplines such as genetic counseling present additional challenges adapting to an unfamiliar health care system and different interactions and expectations with patients and colleagues. This study used semi-structured interviews to identify challenges that international genetic counseling students face during training in the United States. Eight international genetic counseling alumni who graduated from U.S.-accredited programs were interviewed. Participants stated that the U.S. academic system was unfamiliar-class participation and paper-writing required the greatest adjustment. There was a need for help in understanding social norms in academic settings. Clinically, they were unfamiliar with the dynamics and communication style of U.S. families. Non-native English speakers experienced greater difficulty in all areas. Most participants reported that they were uncomfortable asking for help in transitioning to life, study and work. Participants identified mentorship programs for international students as potentially useful in clarifying expectations in academic and clinical settings. These results may assist international students preparing to study genetic counseling in the U.S. and may help genetic counseling training programs identify the academic and clinical challenges faced by international students.
Full Text Available Background: Non-communicable diseases and associated risk factors (smoking, alcohol abuse, physical inactivity and unhealthy diet are a major contributor to primary care morbidity and the burden of disease. The need for healthcare-provider training in evidence-based lifestyle interventions has been acknowledged by the National Department of Health. However, local studies suggest that counselling on lifestyle modification from healthcare providers is inadequate and this may, in part, be attributable to a lack of training.Aim: This study aimed to assess the current training courses for primary healthcare providers in the Western Cape.Setting: Stellenbosch University and University of Cape Town.Methods: Qualitative interviews were conducted with six key informants (trainers of primary care nurses and registrars in family medicine and two focus groups (nine nurses and eight doctors from both Stellenbosch University and the University of Cape Town.Results: Trainers lack confidence in the effectiveness of behaviour change counselling and in current approaches to training. Current training is limited by time constraints and is not integrated throughout the curriculum – there is a focus on theory rather than modelling and practice, as well as a lack of both formative and summative assessment. Implementation of training is limited by a lack of patient education materials, poor continuity of care and record keeping, conflicting lifestyle messages and an unsupportive organisational culture.Conclusion: Revising the approach to current training is necessary in order to improve primary care providers’ behaviour change counselling skills. Primary care facilities need to create a more conducive environment that is supportive of behaviour change counselling.
Mash, Bob; Everett-Murphy, Katherine
Abstract Background Non-communicable diseases and associated risk factors (smoking, alcohol abuse, physical inactivity and unhealthy diet) are a major contributor to primary care morbidity and the burden of disease. The need for healthcare-provider training in evidence-based lifestyle interventions has been acknowledged by the National Department of Health. However, local studies suggest that counselling on lifestyle modification from healthcare providers is inadequate and this may, in part, be attributable to a lack of training. Aim This study aimed to assess the current training courses for primary healthcare providers in the Western Cape. Setting Stellenbosch University and University of Cape Town. Methods Qualitative interviews were conducted with six key informants (trainers of primary care nurses and registrars in family medicine) and two focus groups (nine nurses and eight doctors) from both Stellenbosch University and the University of Cape Town. Results Trainers lack confidence in the effectiveness of behaviour change counselling and in current approaches to training. Current training is limited by time constraints and is not integrated throughout the curriculum – there is a focus on theory rather than modelling and practice, as well as a lack of both formative and summative assessment. Implementation of training is limited by a lack of patient education materials, poor continuity of care and record keeping, conflicting lifestyle messages and an unsupportive organisational culture. Conclusion Revising the approach to current training is necessary in order to improve primary care providers’ behaviour change counselling skills. Primary care facilities need to create a more conducive environment that is supportive of behaviour change counselling. PMID:26245589
Full Text Available Aim. The aim of this study was to elucidate midwives experiences in providing care and counselling to women with FGM related problems. Setting. The study was conducted at a maternity clinic in Hargeisa, Somaliland. Method. A qualitative, inductive study were performed with eight midwives living in Somaliland. The interviews had semi-structured questions. Content analysis was used for the analysis. Findings. The main findings of the present study were how midwives are challenged by culture and religion when providing FGM counselling. The most prominent challenge is the perception that FGM is an important part of the culture and from this point of view the midwives work is apprehended as interfering and subverting the Somali culture. Having personal experience of FGM emerged as a benefit when counselling women. Conclusion. There is a contradiction between the professional actions of performing FGM despite a personal belief against FGM. Midwives as a professional group could be important agents of change and further research is needed about the midwives role in this process.
Full Text Available Abstract Background Tobacco use adversely affects oral health. Clinical guidelines recommend that dental providers promote tobacco abstinence and provide patients who use tobacco with brief tobacco use cessation counselling. Research shows that these guidelines are seldom implemented, however. To improve guideline adherence and to develop effective interventions, it is essential to understand provider behaviour and challenges to implementation. This study aimed to develop a theoretically informed measure for assessing among dental providers implementation difficulties related to tobacco use prevention and cessation (TUPAC counselling guidelines, to evaluate those difficulties among a sample of dental providers, and to investigate a possible underlying structure of applied theoretical domains. Methods A 35-item questionnaire was developed based on key theoretical domains relevant to the implementation behaviours of healthcare providers. Specific items were drawn mostly from the literature on TUPAC counselling studies of healthcare providers. The data were collected from dentists (n = 73 and dental hygienists (n = 22 in 36 dental clinics in Finland using a web-based survey. Of 95 providers, 73 participated (76.8%. We used Cronbach's alpha to ascertain the internal consistency of the questionnaire. Mean domain scores were calculated to assess different aspects of implementation difficulties and exploratory factor analysis to assess the theoretical domain structure. The authors agreed on the labels assigned to the factors on the basis of their component domains and the broader behavioural and theoretical literature. Results Internal consistency values for theoretical domains varied from 0.50 ('emotion' to 0.71 ('environmental context and resources'. The domain environmental context and resources had the lowest mean score (21.3%; 95% confidence interval [CI], 17.2 to 25.4 and was identified as a potential implementation difficulty. The domain emotion
Cunningham, Mitchell; Morreale, Mary; Trepanier, Angela
Genetic counselors (GCs) are trained to identify and attend to distress; however, GCs may have patients with distress better managed by mental health professionals (MHPs). To understand the GCs' role in mental health care, we explored patient cues prompting GCs to refer to MHPs and where GCs thought their expertise in managing patient distress ended. We recruited GCs who have referred a patient for mental health services within the last year to participate in an interview study. A twelve-question interview guide explored GC demographics, reasons for referrals to MHPs, the obstacles to referrals, and perceived differences in counseling competencies between GCs and MHPs. Twenty-eight semi-structured interviews were conducted, recorded, and transcribed verbatim. Transcripts were analyzed using an inductive approach, consisting of reading a subset of transcripts and assigning codes to meaningful segments of text. Common reasons for referral included the GC's perception of the patient having limited social support, or when the patient indicated significant anxiety related to their at-risk status or recent diagnosis. GCs felt they referred when they were limited by time and training to provide adequate psychosocial services. The participants in this study acknowledged that their scope of practice is limited to short-term, client-centered counseling. Our findings are a first step in helping increase GCs' awareness of factors that contribute to the referral process to MHPs.
Yang, Seungwon; Kim, Dasohm; Choi, Hye Joung; Chang, Min Jung
Medication counseling is a critical component of pharmaceutical care to promote the safe and effective use of medications and to maximize therapeutic outcomes. The assessment of patients' and pharmacists' satisfaction with medication counseling services could be one of the vital parameters for predicting the quality of pharmacy services. No study has measured and compared both patients' and pharmacists' satisfaction with medication counseling. The objectives of this study were to describe and compare patients' and pharmacists' levels of satisfaction with medication counseling services offered by community pharmacists in South Korea. This was a descriptive, cross-sectional survey. The online survey was distributed to patients and community pharmacists using a structured questionnaire. The questionnaires consisted of 4 main areas: (1) responders' characteristics (2) current state of medication counseling methods provided by community pharmacies (3) overall satisfaction with medication counseling (4) demand for the development of medication counseling standards. A comparison between patients and pharmacists was made using either a chi-square test or a Fisher's exact test. Between June 13, 2014 and July 15, 2014, a total of 252 patients and 620 pharmacists completed the survey. It was found that 47.3% of pharmacists and 34.0% of patients were satisfied with the current medication counseling service. Pharmacists showed a higher degree of satisfaction with the medication counseling service compared to patients (p <0.05). A major reason for patients not being satisfied with the medication counseling from community pharmacists was the insufficient time spent on counseling (51.2%). The pharmacists' perception of a major barrier to providing appropriate medication counseling for patients was the lack of time (24.3%). Moreover, a substantial number of patients (88%) and pharmacists (73%) supported the development of medication counseling standards to improve community
Hens, Kristien; Peeters, Hilde; Dierickx, Kris
The search for genes that can explain the development of autism is ongoing. At the same time, genetic counselling and genetic testing can be offered to families with a child diagnosed with autism. However, given the complexity of autism, both with respect to its aetiology as well as with respect to its heterogeneity, such genetic counselling and testing raises specific ethical questions regarding the aim and scope. In order to map these questions and opinions we interviewed 15 Belgian autism professionals. We found that they believed that genetic counselling and genetic testing have certain benefits for families confronted with an autism diagnosis, but also that direct benefit to the child is limited to those cases where a genetic finding offers a certain prognosis and intervention plan. In cases where autism is the result of a syndrome or a known genetic variant that is associated with other health problems, detection can also enable prevention of these health issues. Benefits of genetic testing, such as relief of guilt and reproductive choice, are primarily benefits to the parents, although indirectly they may affect the wellbeing of the person diagnosed. These benefits are associated with ethical questions. Copyright © 2016 Elsevier Masson SAS. All rights reserved.
Goldman, Jill S.; Hahn, Susan E.; Catania, Jennifer Williamson; LaRusse-Eckert, Susan; Butson, Melissa Barber; Rumbaugh, Malia; Strecker, Michelle N.; Roberts, J. Scott; Burke, Wylie; Mayeux, Richard; Bird, Thomas
Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased life expectancy and the aging baby boomer generation. The average lifetime risk of developing Alzheimer disease is 10–12%. This risk at least doubles with the presence of a first-degree relative with the disorder. Despite its limited utility, patients express concern over their risk and, in some instances, request testing. Furthermore, research has demonstrated that testing individuals for apoli-poprotein E can be valuable and safe in certain contexts. However, because of the complicated genetic nature of the disorder, few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients. Given the increased awareness in family history thanks to family history campaigns, the increasing incidence of Alzheimer disease, and the availability of direct to consumer testing, patient requests for information is increasing. This practice guideline provides clinicians with a framework for assessing their patients’ genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD. PMID:21577118
Goldman, Jill S; Hahn, Susan E; Catania, Jennifer Williamson; LaRusse-Eckert, Susan; Butson, Melissa Barber; Rumbaugh, Malia; Strecker, Michelle N; Roberts, J Scott; Burke, Wylie; Mayeux, Richard; Bird, Thomas
Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased life expectancy and the aging baby boomer generation. The average lifetime risk of developing Alzheimer disease is 10-12%. This risk at least doubles with the presence of a first-degree relative with the disorder. Despite its limited utility, patients express concern over their risk and, in some instances, request testing. Furthermore, research has demonstrated that testing individuals for apolipoprotein E can be valuable and safe in certain contexts. However, because of the complicated genetic nature of the disorder, few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients. Given the increased awareness in family history thanks to family history campaigns, the increasing incidence of Alzheimer disease, and the availability of direct to consumer testing, patient requests for information is increasing. This practice guideline provides clinicians with a framework for assessing their patients' genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD.
Akers, Aletha Y.; Davis, Esa M.; Foster, Lovie J. Jackson; Morrison, Penelope; Sucato, Gina; Miller, Elizabeth; Lee, MinJae
Objectives Little is known about prevention-focused counseling health providers deliver to parents of adolescents. This study compared parental report of discussions with their adolescents’ providers about a range of adolescent prevention topics. Methods Between June and November 2009, a questionnaire was provided to parents accompanying adolescents aged 11-18 on outpatient clinic visits. Parents indicated, anonymouslym which of 22 prevention topics they remembered discussing with their adolescent's provider. Hierarchical logistic regression models were used to identify correlates of parental recall. Results Among the 358 participants, 83% reported discussing at least one prevention topic. More parents reported discussing general prevention topics than mental health or high-risk topics (e.g. sex). Adolescent gender, visit type, having a usual source of care, and parental beliefs about their adolescents’ risk behaviors correlated with parental report of discussions about high-risk and mental health topics. Conclusion Most parents recalled discussing one or more topics with their adolescent's health provider. However, parental report of discussions about topics linked to significant adolescent morbidity was low. Practice implications Strategies to improve the frequency, timeliness and appropriateness of counseling services delivered to parents about adolescent preventive health are needed. Strategies that utilize decision support tools or patient education tools may be warranted. PMID:24238626
Dec 17, 2007 ... anemia, cystic fibrosis, phenylketonuria and hemophilia. Sickle cell disease is a common genetic condition that affects hemoglobin – inheritance of ..... that is commonly recommended for pregnant women is ultrasound scanning which cannot reveal or detect genetic disorder such as sickle cell anemia.
Leter, E. M.; Boonstra, A. B.; Postma, F. B.; Gille, J. J. P.; Meijers-Heijboer, E. J.; Vonk Noordegraaf, A.
We report three cases which highlight the complex considerations surrounding genetic counselling for pulmonary arterial hypertension (PAH). The first counselee developed PAH symptoms shortly after his daughter's death from PAH and was diagnosed with a delay of 1 year. An early diagnosis of familial
Christiaans, Imke; Van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A. M.; Smets, Ellen M. A.
Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with sudden cardiac death. Predictive genetic counseling and testing are performed using adapted Huntington guidelines, that is, psychosocial care and time for reflection are not obligatory and the test result can be
Douthit, Kathryn Z.
Research in psychiatric genetics shows that many mental disorders commonly seen by counselors are associated with the presence of specific genes. Although findings in gene research call for some changes in the way counselors approach intervention, in most cases, the importance of the counseling profession's core commitments is underscored. This…
Conclusion: Prenatal sonographic identification of dilated bowel loops in association with polyhydramnios suggests congenital diarrhea and a differential diagnosis of microvillus inclusion disease in addition to congenital chloride diarrhea and congenital sodium diarrhea. Molecular analysis of the MYO5B gene is helpful in genetic counseling and prenatal diagnosis of recurrent microvillus inclusion disease in subsequent pregnancies.
Bylund, Carma L; Fisher, Carla L; Brashers, Dale; Edgerson, Shawna; Glogowski, Emily A; Boyar, Sherry R; Kemel, Yelena; Spencer, Sara; Kissane, David
Uncertainty is central to the experience of genetic decision making and counseling about cancer risk. Women seeking genetic counseling about their breast cancer risk may experience a great deal of uncertainty about issues related to their daughters. We used a theory of Communication and Uncertainty Management to guide analysis of sources of uncertainty about daughters that emerged during 16 video-recorded and transcribed conversations between mothers at risk for a BRCA 1/2 mutation and their genetic healthcare practitioners. An interpretive design and constant comparative method revealed three dominant patterns or themes representing sources of uncertainty mothers have relating to their daughters: disease risk, future cancer screening, and communication of related information to daughters. Both practitioners and mothers discussed these aspects of uncertainty. The findings identify the significant role uncertainty and familial concerns play in mothers' genetic testing decision making process. To assist genetic practitioners, we highlight daughter-related concerns that mothers are uncertain about and which are vital to their genetic counseling needs.
Chu, Hsiu-Ching; Chow, Philip C
The death of a spouse is both a major loss and a tremendous life stressor for the partner left behind. Such has been shown to be particularly hard on the elderly. This article describes a nurse's experience caring for an elderly patient suffering from major depression resulting from the death of his wife. While providing nursing care to the client, the author, employing holistic nursing assessment, identified a reciprocal influence between his depressive symptoms and grief reaction. In applying the Inventory of Complicated Grief to ascertain grief reaction intensity to help the client discern between major depressive symptoms and grief reaction, the author found that the client (1) could not accept the loss of his wife, (2) had difficulty adjusting to life after his wife's death, and (3) faced a tense and distant relationship with his son. Such resulted in suicidal ideation and planning and feelings of loneliness, helplessness, hopelessness and incapability, which triggered major depression and a complicated grief reaction. Therefore, the author applied grief counseling to help the client accept the loss of his spouse, communicate his grief, overcome the difficult adjustment to life after his spouse's death, bid farewell to his wife, and establish new relationships. Such counseling gradually helped the client accept the inevitability of death and his wife's passing. To help the client establish new relationships under existing circumstances of negligible external support systems, the author encouraged the client to establish a new relationship with himself and integrate the old-age stage of life cycle naturally into his daily routine. Based on this care experience, we recommend psychiatric nurses assess cautiously the loss experience and grief reaction in elderly widowers under their care in order to provide timely grief counseling intervention to help the client pass quickly through the grieving phase and free him or her from the haze of depression.
Lynch, H T; Snyder, C; Stacey, M; Olson, B; Peterson, S K; Buxbaum, S; Shaw, T; Lynch, P M
When a cancer predisposing germline mutation is detected in an index case, the presence of the underlying syndrome is confirmed and the potential for predictive testing of at-risk relatives is established. However, the reporting of a positive family history does not routinely lead to communication of information about risk to close, much less distant relatives. This review summarizes information technology utilized to address penetration or 'reach' of knowledge of risk within extended families, including the use of telephone and video counseling to reach distant patients, and anticipate novel internet-based processes for communication between investigators and relatives. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Clark, Leslie H; Ko, Emily M; Kernodle, Amber; Harris, Ariel; Moore, Dominic T; Gehrig, Paola A; Bae-Jump, Victoria
To determine patients' perceptions of provider-based counseling and behavior changes made by endometrial cancer survivors. Endometrial cancer survivors (diagnosed from 2011 to 2012) from a single institution were surveyed. Exclusion criteria included persistent or recurrent disease or those actively undergoing treatment. Information collected included demographics, weight assessments, health behaviors, and physician counseling. Statistical analysis was performed using descriptive statistics, Fisher exact test, McNemar test, and the κ statistic as a measure of agreement. Of 233 surveys sent, 46% were returned. Median body mass index was 29.8 kg/m (range, 17.1-64.8 kg/m). Comparing primary care providers with gynecologic oncologists (GOs), 47% (n = 46) versus 25% (n = 23) provided dietary counseling and 62% (n = 60) versus 37% (n = 34) provided physical activity counseling (Fisher exact test, P = 0.001 and P endometrial cancer and obesity. Fifty-two percent of responders attempted weight loss after their diagnosis. Fifty-nine percent of responders reported making changes in their diet. Fifty-six percent of patients made dietary changes within 3 months of diagnosis. Forty-eight percent of responders increased physical activity, with 62% implementing changes within 3 to 6 months of their diagnosis. The responders most likely to attempt weight loss were those who received counseling by a provider. All patients reporting attempted weight loss after their cancer diagnosis report being counseled by either a primary care provider or a GO to lose weight. Weight loss counseling was significantly associated with attempting weight loss (P endometrial cancer survivors report counseling by their GO to lose weight. One half of endometrial cancer survivors reported attempted weight loss. All patients reporting weight loss counseling from their oncologist reported attempted weight loss. Most behavioral change occurred 3 to 6 months after a cancer diagnosis. Obesity in endometrial
and testing (CICT); and (ii) PICT. In CICT, also referred to as voluntary counselling and testing (VCT), individuals actively seek. HIV testing and counselling at a facility that offers these services, as well as pre-test information. The process is voluntary and the. 'three Cs' (informed consent, counselling and confidentiality) are.
... certain other cancers or cancer in both breasts, ancestry, and family health history of breast, ovarian, and ... mutations, so genetic testing will not help most women with a family health history of breast and ...
Full Text Available The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood. An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR.
Skirton, Heather; Barnoy, Sivia; Ingvoldstad, Charlotta; van Kessel, Ingrid; Patch, Christine; O'Connor, Anita; Serra-Juhe, Clara; Stayner, Barbara; Voelckel, Marie-Antoinette
Genetic counsellors have been working in some European countries for at least 30 years. Although there are great disparities between the numbers, education, practice and acceptance of these professionals across Europe, it is evident that genetic counsellors and genetic nurses in Europe are working autonomously within teams to deliver patient care. The aim of this study was to use the Delphi research method to develop a core curriculum to guide the educational preparation of these professionals in Europe. The Delphi method enables the researcher to utilise the views and opinions of a group of recognised experts in the field of study; this study consisted of four phases. Phases 1 and 4 consisted of expert workshops, whereas data were collected in phases 2 and 3 (n=35) via online surveys. All participants in the study were considered experts in the field of genetic counselling. The topics considered essential for genetic counsellor training have been organised under the following headings: (1) counselling; (2) psychological issues; (3) medical genetics; (4) human genetics; (5) ethics, law and sociology; (6) professional practice; and (7) education and research. Each topic includes the knowledge, skills and attitudes required to enable genetic counsellors to develop competence. In addition, it was considered by the experts that clinical practice should comprise 50% of the educational programme. The core Master programme curriculum will enable current courses to be assessed and inform the design of future educational programmes for European genetic counsellors.
Whitaker, Kara M; Wilcox, Sara; Liu, Jihong; Blair, Steven N; Pate, Russell R
This study investigated patient and provider perceptions of weight gain, physical activity, and nutrition counseling during prenatal care visits. Individual qualitative interviews were conducted with 30 pregnant women between 20 and 30 weeks gestation (15 African American, 15 White) and 11 prenatal care providers (5 attending physicians, 5 residents, 1 nurse practitioner) in 2014. The majority of patients and providers reported receiving or giving advice on weight gain (87% and 100%, respectively), physical activity (87% and 91%), and nutrition (100% and 91%) during a prenatal visit. Discussion of counseling content was largely consistent between patients and providers. However, counseling was limited and not fully consistent with current weight gain, physical activity, or dietary guidelines during pregnancy. Most patients viewed provider advice positively, but some wanted more detailed information. Providers discussed many barriers to lifestyle counseling, including lack of time, inadequate training, concern about the sensitivity of the topic, lower education or income level of the patient, cultural differences, and lack of patient interest. Providers discussed weight gain, physical activity, and nutrition during prenatal care visits and patients accurately recalled this advice. However, counseling was limited and not fully consistent with guidelines. Future studies are needed to develop and evaluate the efficacy of interventions to help providers overcome perceived barriers and more effectively counsel women on weight and healthy lifestyles during pregnancy. Copyright © 2016 Jacobs Institute of Women's Health. Published by Elsevier Inc. All rights reserved.
Skovholt, Thomas M.
Presents interview with Thomas Bouchard, a leading researcher of identical twins reared apart. Describes major themes in the Minnesota twin research. Claims, although genetic influence is central, Bouchard pleas for the impact of environmental factors in optimal human development. Includes Bouchard's surprising experiences, current focus, and…
Tang, Longmei; Wu, Shangchun; Li, Jiong; Wang, Kun; Xu, Jialin; Temmerman, Marleen; Zhang, Wei-Hong
To assess the practice of post-abortion family planning (PAFP) counselling among Chinese abortion service providers, and identify the influencing factors. A cross-sectional questionnaire survey was conducted between July and September 2013 among abortion services providers in 30 provinces in China. Univariate and multivariable logistic regression analyses were used to identify the factors that influenced PAFP counselling. 94% of the 579 service providers responded to the questionnaire in the survey. The median age was 39 years (range 20-72), and 95% were females. 92% providers showed a positive attitude and had promoted the PAFP counselling services; however, only 57% spent more than 10 min for it. The overall knowledge on PAFP was limited to the participants. After adjusting for potential confounding factors: providers from the middle region (compared with 'east region', ORadj = 3.33, 95% CI: 2.12-5.21) conducted more PAFP counseling; providers with more knowledge (ORadj = 2.08, 95% CI: 1.38-3.15) provided more counseling; and compared with 'middle school and below', providers with higher education gave more counseling [ORadj(95% CI)] for 'college', 'university' and 'master/doctor' [1.99 (1.01,3.92), 2.32 (1.22,4.40) and 2.34 (1.06,5.17), respectively]. The majority of providers could provide PAFP counselling to women undergone an abortion, but some of them had insufficient time to make it available. Education, knowledge about fertility and reproductive health and residence region were the main factors influencing the practice. Training of health providers and integrating family planning as a part of abortion services are essential to provide adequate PAFP to abortion seekers, thereby reducing the risk of unintended pregnancy.
Vadaparampil, S T; Scherr, C L; Cragun, D; Malo, T L; Pal, T
Genetic counseling and testing for hereditary breast and ovarian cancer now includes practitioners from multiple healthcare professions, specialties, and settings. This study examined whether non-genetics professionals (NGPs) perform guideline-based patient intake and informed consent before genetic testing. NGPs offering BRCA testing services in Florida (n = 386) were surveyed about clinical practices. Among 81 respondents (response rate = 22%), approximately half reported: sometimes scheduling a separate session for pre-test counseling lasting 11-30 min prior to testing, discussing familial implications of testing, benefits and limitations of risk management options, and discussing the potential psychological impact and insurance-related issues. Few constructed a three-generation pedigree, discussed alternative hereditary cancer syndromes, or the meaning of a variant result. This lack of adherence to guideline-based practice may result in direct harm to patients and their family members. NGPs who are unable to deliver guideline adherent cancer genetics services should focus on identification and referral of at-risk patients to in person or telephone services provided by genetics professionals. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Doreen Marie Agnese
Full Text Available As surgeons who care for patients with breast cancer, the possibility of a cancer diagnosis being related to a hereditary predisposition is always a consideration. Not only are we as surgeons always trying to identify these patients and families, but also we are often asked about a potential hereditary component by the patients and their family members. It is therefore critical that we accurately assess patients to determine who may benefit from genetic testing. Importantly, the potential benefit for identifying a hereditary breast cancer extends beyond the patient to other family members and the risk may not be only for the development of breast cancers, but for other cancers as well. As a surgeon with additional training in clinical cancer genetics, I have perhaps a unique perspective on the issue and feel that a review of some of the more practical considerations is important.
Augustine, Jill M; Taylor, Ann M; Pelger, Martin; Schiefer, Danielle; Warholak, Terri L
Tobacco use is the nation's leading cause of preventable illness and death, causing a significant burden on the health care system. Many cessation pharmacotherapy treatment options are available to help smokers quit, including nicotine replacement therapies (NRTs) and prescription medications. Research indicates that pharmacists are able to provide a positive benefit to smokers who want to quit through pharmacologic and nonpharmacologic interventions. The aim of the present work was to examine the quit rates among participants who received smoking cessation pharmacotherapy and pharmacist-provided telephone-based quit counseling services. Retrospective database review of enrolled participants. Telephone-based pharmacotherapy and medication counseling services offered from a medication management center. State employees who voluntarily contacted a medication management center for smoking cessation services after receiving promotional flyers. Long-term quit rates at 7 and 13 months were determined by means of patient self-report in response to questioning. Smoking cessation was considered to be a success if the patient reported not smoking for the past 30 days. A total of 238 participants were included in the review. Thirty-nine participants completed the program after the first treatment, 12 participants after the second treatment, and 4 participants after the third treatment. Two patients completed the program more than once. Eighty-five participants (36%) reported results at 7-month follow-up; of these, 43 (51%) were smoking free. A total of 44 participants (18%) reported results at 13-month follow-up; of these, 24 participants (55%) reported being smoking free. There were no significant differences in the percentages of smoking-free participants at 7 or 13 months, regardless of their first treatment (P = 0.06 and 0.345, respectively). Successful quit rates were higher than previously demonstrated with other telephone-based smoking cessation programs. Therefore
Koeller, Diane R; Uhlmann, Wendy R; Carere, Deanna Alexis; Green, Robert C; Roberts, J Scott
Direct-to-consumer personal genomic testing (DTC-PGT) results lead some individuals to seek genetic counseling (GC), but little is known about these consumers and why they seek GC services. We analyzed survey data pre- and post-PGT from 1026 23andMe and Pathway Genomics customers. Participants were mostly white (91%), female (60%), and of high socioeconomic status (80% college educated, 43% household income of ≥$100,000). After receiving PGT results, 43 participants (4%) made or planned to schedule an appointment with a genetic counselor; 390 (38%) would have used in-person GC had it been available. Compared to non-seekers, GC seekers were younger (mean age of 38 vs 46 years), more frequently had children <18 (26% vs 16%), and were more likely to report previous GC (37% vs 7%) and genetic testing (30% vs 15%). In logistic regression analysis, seeking GC was associated with previous GC use (OR = 6.5, CI = 3.1-13.8), feeling motivated to pursue DTC-PGT for health reasons (OR = 4.3, CI = 1.8-10.1), fair or poor self-reported health (OR = 3.1, CI = 1.1-8.3), and self-reported uncertainty about the results (OR = 1.8, CI = 1.1-2.7). These findings can help GC providers anticipate who might seek GC services and plan for clinical discussions of DTC-PGT results.
Fortea, J; Lladó, A; Clarimón, J; Lleó, A; Oliva, R; Peri, J; Pintor, L; Yagüe, J; Blesa, R; Molinuevo, J L; Sánchez-Valle, R
We describe the 5 year experience of a genetic counselling program for familial dementias (the PICOGEN program). The neurologist selected the candidates for genetic testing in the screening visit based on family history and phenotype (Alzheimer disease-AD, frontotemporal lobar degeneration-FTLD, or prion disease). Asymptomatic subjects who decided to know their genetic status were evaluated within a structured protocol by the psychiatrist and psychologist prior to entering the program and followed up afterwards. A total of 87 patients from 72 families were candidates for the genetic study, 20 of the 72 families had a family history of autosomal dominant early-onset dementia (ADEOD). A pathogenic mutation was found in 22 patients (8 PSEN1, 1 PSEN2, 1 APP, 4 MAPT, 8 PRNP), 5 of which had not been previously described. All positive cases, except for 1 PSEN1 (12.5%) and 4 PRNP (50%) showed ADEOD. In 3 ADEOD cases (15%) no pathogenic mutation was found. After individual genetic counselling, 24/54 asymptomatic subjects at risk decided to have the pre-symptomatic study, of whom 10 (42%) were carriers of the pathogenic mutation. In the follow up, no major psychiatric complication was observed. In our series, family history of ADEOD was a sensitive criterion for the detection of pathogenic mutations in AD and FTLD but not in prion diseases. No genetic anomalies were detected in 15% of the ADEOD cases using conventional diagnostic procedures, and 43% of pre-symptomatic subjects at risk who received individual genetic counselling decided to have the study. The pre-symptomatic diagnosis proved to be safe under these conditions. Copyright © 2009 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.
Jane N Mutanga
Full Text Available BACKGROUND: Provider-initiated testing and counselling (PITC is a priority strategy for increasing access for HIV-exposed children to prevention measures, and infected children to treatment and care interventions. This article examines efforts to scale-up paediatric PITC at a second-level hospital located in Zambia's Southern Province, and serving a catchment area of 1.2 million people. METHODS AND PRINCIPAL FINDINGS: Our retrospective case study examined best practices and enabling factors for rapid institutionalization of PITC in Livingstone General Hospital. Methods included clinical observations, key informant interviews with programme management, and a desk review of hospital management information systems (HMIS uptake data following the introduction of PITC. After PITC roll-out, the hospital experienced considerably higher testing uptake. In a 36-month period following PITC institutionalization, of total inpatient children eligible for PITC (n = 5074, 98.5% of children were counselled, and 98.2% were tested. Of children tested (n = 4983, 15.5% were determined HIV-infected; 77.6% of these results were determined by DNA polymerase chain reaction (PCR testing in children under the age of 18 months. Of children identified as HIV-infected in the hospital's inpatient and outpatient departments (n = 1342, 99.3% were enrolled in HIV care, including initiation on co-trimoxazole prophylaxis. A number of good operational practices and enabling factors in the Livingstone General Hospital experience can inform rapid PITC institutionalization for inpatient and outpatient children. These include the placement of full-time nurse counsellors at key areas of paediatric intake, who interface with patients immediately and conduct testing and counselling. They are reinforced through task-shifting to peer counsellors in the wards. Nurse counsellor capacity to draw specimen for DNA PCR for children under 18 months has significantly enhanced early
Conclusion: Prenatal sonographic identification of endocardial cushion defects in association with shortening of the long bones should alert clinicians to the possibility of EvC syndrome and prompt a careful search of hexadactyly of the hands. Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects.
Cragun, Deborah; Zierhut, Heather
Conceptual frameworks bring together existing theories and models in order to identify, consolidate, and fill in gaps between theory, practice, and evidence. Given the vast number of possible outcomes that could be studied in genetic counseling, a framework for organizing outcomes and postulating relationships between communication services and genetic counseling outcomes was sought. Through an iterative approach involving literature review, thematic analysis, and consolidation, outcomes and processes were categorized to create and define components of a conceptual framework. The final product, "Framework for Outcomes of Clinical commUnication Services" (FOCUS) contains the following domains: communication strategy; communication process measures; patient care experience, patient changes, patient health; and family changes. A website was created to allow easier access and ongoing modifications to the framework. In addition, a step-by-step guide and two examples were created to show flexibility in how the framework can be used. FOCUS may help in conceptualizing, organizing and summarizing outcomes research related to risk communication and counseling in genetic service delivery as well as other healthcare settings.
Full Text Available There are an estimated 45 million carriers of β-thalassemia trait and about 12,000-15,000 infants with β-thalassemia major are born every year in India. The consanguinity rates are higher in India, and thalassemia major constitutes a significant burden on the health care system. In present study, β-thalassemia mutations were characterized in 300 thalassemia cases from 2007 to 2010 using ARMS-PCR and DNA sequencing. The five most common mutations accounted 79.3% of the studied chromosomes that includes IVS1-5(G>C, Cod 41-42(-TCTT, Cod8-9(+G, Cod16(-C and 619bp del. Though IVS1-5(G>C is most common mutation when all the communities were included, the percentage prevalence were calculated on sub caste basis and found that IVS1-5(G>C percentage prevalence varied from 25 to 60 in Aroras & Khatris and Thakur respectively. Interestingly Cod41-42(-TCTT mutation which is the second commonest among the mutations reported was totally absent in Kayasthas and Muslim community. These findings have implications for providing molecular diagnosis, genetic counseling and prenatal diagnosis to high risk couples of β-thalassemia.
Kumar, Ravindra; Singh, Kritanjali; Panigrahi, Inusha; Agarwal, Sarita
There are an estimated 45 million carriers of β-thalassemia trait and about 12,000-15,000 infants with β-thalassemia major are born every year in India. Thalassemia major constitutes a significant burden on the health care system. The burden of thalassemia major can be decreased by premarital screening and prenatal diagnosis. The success of prenatal diagnosis requires proper knowledge of spectrum of β-thalassemia mutations. In present study, β-thalassemia mutations were characterized in 300 thalassemia cases from 2007 to 2010 using ARMS-PCR and DNA sequencing. The five most common mutations accounted 78.9% of the studied chromosomes that includes IVS1-5(G>C), Cod 41-42(-TCTT), Cod8-9(+G), Cod16(-C) and 619bp del. Though IVS1-5(G>C) is most common mutation in all the communities, the percentage prevalence were calculated on sub caste basis and found that IVS1-5(G>C) percentage prevalence varied from 25 to 60 in Aroras & Khatris and Thakur respectively. Interestingly Cod41-42(-TCTT) mutation which is the second commonest among the mutations reported was totally absent in Kayasthas and Muslim community. These findings have implications for providing molecular diagnosis, genetic counseling and prenatal diagnosis to high risk couples of β-thalassemia.
McInerney, Joseph D.; Greendale, Karen; Peay, Holly L.
We developed this program for primary care providers (PCPs) and public health professionals (PHPs) who are interested in increasing their understanding of the genetics of common chronic diseases and of the implications of genetics and genomics for their fields. The program differs from virtually all previous educational efforts in genetics for health professionals in that it focuses on the genetics of common chronic disease and on the broad principles that emerge when one views disease from the perspectives of variation and individuality, which are at the heart of thinking genetically. The CD-ROM introduces users to content that will improve their understanding of topics such as: • A framework for genetics and common disease; • Basic information on genetics, genomics, genetic medicine, and public health genetics, all in the context of common chronic disease; • The status of research on genetic contributions to specific common diseases, including a review of research methods; • Genetic/environmental interaction as the new “central dogma” of public health genetics; • The importance of taking and analyzing a family history; • The likely impact of potential gene discovery and genetic testing on genetic counseling and risk assessment and on the practices of PCPs and PHPs; • Stratification of populations into low-, moderate-, and high-risk categories; • The potential role of PCPs and PHPs in identifying high-risk individuals and families, in providing limited genetics services, and in referring to clinical genetics specialists; the potential for standard referral algorithms; • Implications of genetic insights for diagnosis and treatment; • Ethical, legal, and social issues that arise from genetic testing for common chronic diseases; and • Specific prevention strategies based on understanding of genetics and genetic/ environmental interactions. The interactive content – developed by experts in genetics, primary care, and public health – is
Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V.; van Tintelen, J. Peter; van Langen, Irene M.
The introduction of next-generation sequencing in everyday clinical genetics practise is increasing the number of genetic disorders that can be confirmed at DNA-level, and consequently increases the possibilities for cascade screening. This leads to a greater need for genetic counselling, whereas
Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V.; van Tintelen, J. Peter; van Langen, Irene M.
The introduction of next-generation sequencing in everyday clinical genetics practise is increasing the number of genetic disorders that can be confirmed at DNA-level, and consequently increases the possibilities for cascade screening. This leads to a greater need for genetic counselling, whereas
Shen, Joseph J; Carmichael, Jason; Vásquez Santos, Leoncio
An important aspect of genetic counseling is the recognition of and adaptation to the socio-cultural uniqueness of the different populations that a genetics clinic serves. The Central Valley of California is home to a large population from Mexico, with a significant proportion of indigenous ancestry originating from the state of Oaxaca. We report on our experience with two families of this community-one extended family with an early lethal inborn error of metabolism and the other with a chronic disfiguring form of ichthyosis. We identified multiple important factors that needed to be considered, including the matching of language dialects, adaptation to different social interaction conventions, acknowledgement of traditional medicine beliefs, and effective transmission of genetic terms and concepts, all of which should be incorporated into the interactions with these families when aiming to provide comprehensive genetic counseling.
Strauss, Bernard S
The response of groups to pressing medical problems cannot be predicted on theoretical grounds. An example is the program for the control of beta-thalassemia in Iran, a country with a tradition of inbreeding and a conservative religious culture, and in which thalassemia is common. Thalassemia is largely treatable, but the treatment is lifelong and onerous and creates a serious economic burden for the individual family and for the national health budget. The genetics are simple, and inexpensive screening tests are available to identify carriers. An Iranian program requiring mandatory premarital screening was started in 1997, and between 1998 and 2005 the laws of the country were modified to permit abortion of affected fetuses. The story of this effort indicates how a country with a social system very different from that of the United States responded to a medical problem with significant ethical overtones. The Iranian experience supports the optimistic view that societies can react to pressing problems with pragmatic rather than theoretical solutions.
Genetic nurse counsellors can be an acceptable and cost-effective alternative to clinical geneticists for breast cancer risk genetic counselling. Evidence from two parallel randomised controlled equivalence trials
Torrance, N; Mollison, J; Wordsworth, S; Gray, J; Miedzybrodzka, Z; Haites, N; Grant, A; Campbell, M; Watson, M S; Clarke, A; Wilson, B
This study compared genetic nurse counsellors with standard services for breast cancer genetic risk counselling services in two regional genetics centres, in Grampian region, North East Scotland and in Cardiff, Wales. Women referred for genetic counselling were randomised to an initial genetic counselling appointment with either a genetic nurse counsellor (intervention) or a clinical geneticist (current service, control). Participants completed postal questionnaires before, immediately after ...
Roter, Debra L; Erby, Lori; Larson, Susan; Ellington, Lee
To assess the relationship between the oral literacy demand of genetic counseling sessions and the ability of low literate subjects to learn genetics-related information. Ninety-six simulated genetic counseling sessions were videotaped and shown to 312 subjects recruited to imagine themselves as the session's client. Study measures included oral literacy demand, operationalized as: (1) use of key genetics terms; (2) informational context; (3) general language complexity; and (4) structural characteristics of dialogue interactivity. The study outcome was learning of genetics-related information. Subjects with restricted literacy (below 8th grade level) learned more when viewing sessions with greater dialogue interactivity and more personally contextualized information. Subjects with adequate literacy skills, however, tended to learn less in low literacy demand sessions. The oral literacy demand of medical dialogue represents a learning obstacle to low literate subjects. However, this may not be the case for those with greater literacy skills who can understand the complex language and process the dense informational load of high demand sessions. In order to meet the educational needs of all patients, clinicians must attend to both the informativeness and the oral literacy demand of their communication.
Breen, Lauren J; O'Connor, Moira; Hewitt, Lauren Y; Lobb, Elizabeth A
Health professionals are vulnerable to occupational stress and tend to report high levels of secondary trauma and burnout; this is especially so for those working in "high-death" contexts such as cancer support and palliative care. In this study, 38 health professionals (psychologists, social workers, pastoral carers/chaplains, nurses, group facilitators, and a medical practitioner) who provide grief support and counseling in cancer and palliative care each participated in a semistructured interview. Qualitatively, a grounded theory analysis revealed four themes: (a) the role of health professionals in supporting people who are experiencing grief and loss issues in the context of cancer, (b) ways of working with patients with cancer and their families, (c) the unique qualities of cancer-related loss and grief experiences, and (d) the emotional demands of the work and associated self-care. The provision of psychological services in the context of cancer is colored by the specter of cancer, an unseen yet real phenomenon that contributes to secondary trauma and burnout. The participants' reported secondary trauma has serious repercussions for their well-being and may compromise the care they provide. The findings have implications for the retention and well-being of personnel who provide psychosocial care in cancer and the quality and delivery of services for people with cancer and their families. PsycINFO Database Record (c) 2014 APA, all rights reserved.
Laude, G.; Bruening, L. [Robert-Koch-Inst., Berlin (Germany). Medizinische Diagnostik-Umweltmedizin
An outline is given of genetic counselling provided to 46 radiation-exposed persons during the period from 1978 to 1994. The radiation exposure had, in most cases, been due to radiation-therapeutic measures (n=22). To a low extent, counselling was carried out because of fear of genetic consequences of the Chernobyl reactor accident (n=11), preceding radiation exposure from X-ray (n=9) and nuclear diagnosis (n=1) as well as occupation radiation exposure (n=3). During counselling, information was given on the genetic risk to be expected, taking into consideration the risk factor that is valid at present and the malformation doubling dose. After performance of radiation therapy, an avoidance of conception for 2 years has been recommended. After termination of this period, in the case of an urgent wish of having children, pregnancy was not discouraged if no further risk factors existed. (orig.) [Deutsch] Es wird eine Uebersicht ueber die im Zeitraum von 1978 bis 1994 durchgefuehrten genetischen Beratungen bei 46 strahlenexponierten Personen gegeben. Die Strahlenexpositionen waren ueberwiegend infolge strahlentherapeutischer Massnahmen (n=22) entstanden. In geringerem Umfang wurden Beratungen wegen befuerchteter genetischer Auswirkungen des Reaktorunfalles von Tschernobyl (n=11), wegen vorangegangener roentgen-(n=9) und nukleardiagnostischer (n=1) sowie beruflicher Strahlenexposition (n=3) durchgefuehrt. Bei der Beratung wurde unter Beruecksichtigung des z.Z. gueltigen Risikofaktors und der Missbildungsverdopplungsdosis eine Aufklaerung ueber das zu erwartende genetische Risiko gegeben. Nach Durchfuehrung einer Strahlentherapie wurde eine generative Karenz von 2 Jahren empfohlen. Nach Ablauf dieser Frist wurde bei dringendem Kinderwunsch nicht von einer Schwangerschaft abgeraten, sofern nicht weitere Risikofaktoren vorlagen. (orig.)
Understanding awareness and perceptions of genetic counseling (GC) is important in identifying and overcoming potential barriers to GC services. However, there are relatively few empirical data regarding these factors among US-based populations. To address this, we attended various community events for the general public, disability community, and new parents and recruited participants for a survey-based study comprising demographic questions, closed-ended knowledge-based and awareness questions, and open text sections. We applied descriptive statistics to responses about demographics, awareness of GC, purposes of GC, and perceptions of GC practice. In total, 320 individuals participated, including 69 from the general public, 209 from the disability community, and 42 from the new parent community. Slightly more than half of respondents (n =173, 54%) had heard of GC. Risk assessment and counseling were among the most frequently cited activities attributed to genetic counselors; a few felt that GC was related to eugenics. Respondents thought that GC aims to prevent genetic disorders (n=82, 74%), helps people find their ethnic origins and understand their ancestry (n=176, 55%), advises people whether to have children (n=140, 44%), and helps couples have children with desirable characteristics (n=126, 39%). Our data showed the majority of participants preferred to watch a medical thriller involving genetic counseling, followed by documentary series; comedy was rated the lowest. These data revealed gaps in awareness of GC and misperceptions about its purpose and can be useful in devising targeted interventions by developing entertainment-based education to improve public knowledge of genetic health and the roles of GCs.
Farmer Jennifer M
age of 37 years 21. Currently, there are no treatments or cures for FRDA. Little is known about the specific psychological or psychosocial effects of the condition. FRDA is an autosomal recessive condition. The typical molecular basis of Friedreich ataxia is the expansion of a GAA trinucleotide repeat in both copies of the FXN gene 22. Age of onset usually occurs in late childhood or early adolescence. However, the availability of genetic testing has identified affected individuals with an adult form of the condition. This late-onset form is thought to represent approximately 10-15% of the total FRDA population 23. Health care providers of individuals with progressive, neurodegenerative disorders can help facilitate their patients' progression through transitional events. Data suggest that improvements should be made in the care of these individuals. Shaw et al. 24 found that individualized care that helps to prepare patients for transition is beneficial. Beisecker et al. 25 found that patients desire not only physical care from their providers, but also emotional and psychosocial support. Genetic counselors have an important opportunity to help patients with neuromuscular disorders progress through transitional events, as several of these conditions have a genetic etiology. Genetic counselors in pediatric and adult settings often develop long-term relationships with patients, due to follow-up care. This extended relationship is becoming increasingly common as genetic counselors move into various medical sub-specialties, such as neurology, ophthalmology, oncology and cardiology. The role of the genetic counselor in addressing the psychosocial needs of patients has been advocated, but rarely framed in the context of developmental events 26. Data suggest that patients may not expect a genetic counselor to address psychosocial needs 27. In a survey of genetic counseling patients, Wertz 28 found a majority of respondents understood genetic conditions to have a moderate to
Pieterse, A.; Dulmen, S. van; Ausems, M.; Schoemaker, A.; Beemer, F.; Bensing, J.
Counselees' motives for seeking genetic counseling for hereditary cancer have already been investigated, however not using instruments based on counselees' perspective. In addition, expectations regarding the process of counseling have scarcely been assessed. This article describes the construction
Poeterse, A; Van Dulmen, S; Ausems, M; Beemer, F; Bensing, J
Counselees' motives for seeking genetic counseling for hereditary cancer have already been investigated, however not using instruments based on counselees' perspective. In addition, expectations regarding the process of counseling have scarcely been assessed. This article describes the construction
Girard, Amy Webb; Olude, Oluwafunke
Nutrition education and counselling (NEC) is a commonly applied strategy to improve maternal nutrition during pregnancy. However, with the exception special populations and specific diets, the effect of NEC on maternal, neonatal and child health outcomes has not been systematically reviewed. Using a modified Child Health Epidemiology Reference Group method we systematically reviewed the literature and identified and abstracted 37 articles. We conducted meta-analyses for the effect of NEC on maternal, neonatal and infant health outcomes including gestational weight gain, maternal anaemia, birthweight, low birthweight and preterm delivery. NEC significantly improved gestational weight gain by 0.45 kg, reduced the risk of anaemia in late pregnancy by 30%, increased birthweight by 105 g and lowered the risk of preterm delivery by 19%. The effect of NEC on risk of low birthweight was not significant. The effect of NEC was greater when provided with nutrition support, for example, food or micronutrient supplements or nutrition safety nets. The overall quality of the body of evidence was deemed low for all outcomes due to high heterogeneity, poor study designs and other biases. Additional well-designed research that is grounded in appropriate theories of behaviour change is needed to improve confidence in the effect of NEC. Further, cost-effectiveness research is needed to clarify the added benefit and sustainability of providing NEC with nutritional support and/or safety nets, especially in areas where food insecurity and gender bias may limit women's capacity to adhere to NEC messages. © 2012 Blackwell Publishing Ltd.
Roter, Debra L; Erby, Lori H; Larson, Susan; Ellington, Lee
Health literacy deficits affect half the American patient population and are linked to poor health, ineffective disease management and high rates of hospitalization. Restricted literacy has also been linked with less satisfying medical visits and communication difficulties, particularly in terms of the interpersonal and informational aspects of care. Despite growing attention to these issues by researchers and policy makers, few studies have attempted to conceptualize and assess those aspects of dialogue that challenge persons with low literacy skills, i.e., the oral literacy demand within medical encounters. The current study uses videotapes and transcripts of 152 prenatal and cancer pretest genetic counseling sessions recorded with simulated clients to develop a conceptual framework to explore oral literacy demand and its consequences for medical interaction and related outcomes. Ninety-six prenatal and 81 cancer genetic counselors-broadly representative of the US National Society of Genetic Counselors-participated in the study. Key elements of the conceptual framework used to define oral literacy demand include: (1) use of unfamiliar technical terms; (2) general language complexity, reflected in the application of Microsoft Word grammar summary statistics to session transcripts; and, (3) structural characteristics of dialogue, including pacing, density, and interactivity. Genetic counselor outcomes include self-ratings of session satisfaction, informativeness, and development of rapport. The simulated clients rated their satisfaction with session communication, the counselor's effective use of nonverbal skills, and the counselor's affective demeanor during the session. Sessions with greater overall technical term use were longer and used more complex language reflected in readability indices and multi-syllabic vocabulary (measures averaging pspeaking turns and low interactivity (p<.05). The higher the use of technical terms, and the more dense and less
Pepper, Jessica K; McRee, Annie-Laurie; Gilkey, Melissa B
Electronic cigarettes (e-cigarettes) are battery-powered nicotine delivery systems that may serve as a "gateway" to tobacco use by adolescents. Use of e-cigarettes by U.S. adolescents rose from 3% in 2011 to 7% in 2012. We sought to describe healthcare providers' awareness of e-cigarettes and to assess their comfort with and attitudes toward discussing e-cigarettes with adolescent patients and their parents. A statewide sample (n = 561) of Minnesota healthcare providers (46% family medicine physicians, 20% pediatricians, and 34% nurse practitioners) who treat adolescents completed an online survey in April 2013. Nearly all providers (92%) were aware of e-cigarettes, and 11% reported having treated an adolescent patient who had used them. The most frequently cited sources of information about e-cigarettes were patients, news stories, and advertisements, rather than professional sources. Providers expressed considerable concern that e-cigarettes could be a gateway to tobacco use but had moderately low levels of knowledge about and comfort discussing e-cigarettes with adolescent patients and their parents. Compared with pediatricians and nurse practitioners, family medicine physicians reported knowing more about e-cigarettes and being more comfortable discussing them with patients (both p adolescents may need to incorporate screening and counseling about e-cigarettes into routine preventive services, particularly if the prevalence of use continues to increase in this population. Education about e-cigarettes could help providers deliver comprehensive preventive services to adolescents at risk of tobacco use. Copyright © 2014 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.
Reif, Carrie; Much, Kari
The social networking use of university and college counseling center (UCCC) mental health providers has not been widely researched. Most of the 20 providers surveyed in this preliminary study reported engaging in social networking despite identifying pros and cons to its use. Participants' reported use of social media may indicate that social…
Full Text Available Introduction. Women diagnosed with breast cancer at a young age are more likely to carry a cancer predisposing genetic mutation. Per the current NCCN recommendations, women diagnosed under age 50 should be referred to cancer genetic counseling for further risk evaluation. This study seeks to assess patient-reported barriers and facilitators to receiving genetic counseling and risk assessment among a community-based population of young breast cancer survivors (YBCS. Methods. Through the Michigan Cancer Surveillance Program, a state-based cancer registry, 488 women diagnosed with breast cancer before age 50 in 2006-2007 were identified. They received a mail survey regarding family history and facilitators and barriers to receiving genetic counseling and risk assessment. Results. Responses were received from 289 women (59.2%. One hundred twenty-two (42.2% reported having received cancer genetic counseling. The most frequent reason identified for receiving services was to benefit their family's future. The top reasons for not attending were “no one recommended it” and “medical insurance coverage issues.” Discussion. This study is the first published report using a state cancer registry to determine facilitators and barriers to receiving genetic counseling and risk assessment among YBCS. These findings demonstrate the need for additional awareness and education about appropriate indications for genetic services.
Garg, Rahul; Vogelgesang, Joseph; Kelly, Kimberly
Despite the importance of altruism in an individual's participation in genetic counseling and testing, little research has explored the change in altruistic motivations to test over time. This study analyzed altruistic motivations to test and change in altruistic motivations after genetic counseling and testing among individuals (N = 120) at elevated risk for BRCA1/2 mutations. The perceived benefits of genetic testing were assessed and utilized in a mixed-methods, repeated measures design at three time points: pre-counseling, counseling and post-genetic testing, along with transcripts of genetic counseling sessions. Qualitative analysis using an immersion/crystallization method resulted in six common perceived benefits of testing: cancer prevention, awareness, family's survival, relief from anxiety, for science, and future planning. Perceived benefits were then coded into three categories according to Hamilton's kin selection theory: altruistic motivation, personal motivation, and motivation for mutual benefit. At pre-counseling, those with a personal cancer history (p = 0.003) and those with one or more children (p = 0.013), were significantly more likely to cite altruistic motivations to test. Altruistic motivations significantly increased post-counseling (p = 0.01) but declined post-testing (p altruistic and personal motivations. The possibility of a positive test result might have led those with personal history of cancer to have altruistic motivations for testing. Genetic counseling may have increased altruistic motivations to help family and may be a prime opportunity to discuss other forms of altruism.
Hippman, Catriona; Lohn, Zoe; Ringrose, Andrea; Inglis, Angela; Cheek, Joanna; Austin, Jehannine C
No genetic tests are currently clinically available for serious mental illnesses such as schizophrenia and bipolar disorder. Rather, the full spectrum of genetic variants that confer susceptibility remain unknown, and estimates of probability of condition recurrence typically have the form of ranges rather than single absolute numbers. Genetic counselors have been shown to feel that the information that can be provided for patients with serious mental illness could be more confusing than helpful. However, how those with serious mental illness perceive this uncertainty remains unknown. So, to investigate this, individuals with serious mental illness participated in a psychiatric genetic counseling (GC) session and responded to a single open ended question about their reactions towards the uncertainty that they encountered in their GC session immediately and one month post-counseling (from which themes were identified), and completed the Genetic Counseling Satisfaction Scale immediately post-session (descriptive statistics applied). While some of the 37 participants were disappointed with the uncertainty, twice as many were unconcerned. Overall, responses from immediately and one month after GC were very similar; participants were very satisfied with, and found value in GC despite uncertainty, and four approaches to coping with uncertainty emerged. Ultimately, these findings offer insight into providing GC for those with serious mental illness, and potentially could be applied to other areas of GC where uncertainty lies, with downstream impact on GC practice and future research.
Hippman, Catriona; Lohn, Zoe; Ringrose, Andrea; Inglis, Angela; Cheek, Joanna; Austin, Jehannine C
No genetic tests are currently clinically available for serious mental illnesses such as schizophrenia and bipolar disorder. Rather, the full spectrum of genetic variants that confer susceptibility remain unknown, and estimates of probability of condition recurrence typically have the form of ranges rather than single absolute numbers. Genetic counselors have been shown to feel that the information that can be provided for patients with serious mental illness could be more confusing than helpful. However, how those with serious mental illness perceive this uncertainty remains unknown. So, to investigate this, individuals with serious mental illness participated in a psychiatric genetic counseling (GC) session and responded to a single open ended question about their reactions towards the uncertainty that they encountered in their GC session immediately and one month post-counseling (from which themes were identified), and completed the Genetic Counseling Satisfaction Scale immediately post-session (descriptive statistics applied). While some of the 37 participants were disappointed with the uncertainty, twice as many were unconcerned. Overall, responses from immediately and one month after GC were very similar; participants were very satisfied with, and found value in GC despite uncertainty, and four approaches to coping with uncertainty emerged. Ultimately, these findings offer insight into providing GC for those with serious mental illness, and potentially could be applied to other areas of GC where uncertainty lies, with downstream impact on GC practice and future research. PMID:23604904
Trottier, R.W.; Hodgin, F.C.; Imara, M.; Phoenix, D.; Lybrook, S. (Morehouse Coll., Atlanta, GA (United States). School of Medicine); Crandall, L.A.; Moseley, R.E.; Armotrading, D. (Florida Univ., Gainesville, FL (United States). Coll. of Medicine)
Genetic medical services provided by the Georgia Division of Public Health in two northern and two central districts are compared to services provided in a district in which a tertiary care facility is located. Genetics outreach public health nurses play key roles in Georgia's system of Children's Health Services Genetics Program, including significant roles as counselors and information sources on special needs social services and support organizations. Unique features of individual health districts, (e.g., the changing face of some rural communities in ethnocultural diversity and socioeconomic character), present new challenges to current and future genetics services delivery. Preparedness as to educational needs of both health professionals and the lay population is of foremost concern in light of the ever expanding knowledge and technology in medical genetics. Perspectives on genetics and an overview of services offered by a local private sector counselor are included for comparison to state supported services. The nature of the interactions which transpire between private and public genetic services resources in Georgia will be described. A special focus of this research includes issues associated with sickle cell disease newborn screening service delivery process in Georgia, with particular attention paid to patient follow-up and transition to primary care. Of particular interest to this focus is the problem of loss to follow-up in the current system. Critical factors in education and counseling of sickle cell patients and the expectations of expanding roles of primary care physicians are discussed. The Florida approach to the delivery of genetic services contrasts to the Georgia model by placing more emphasis on a consultant-specialist team approach.
Full Text Available HIV counseling and testing (HCT is a critical gateway to treatment, care, and support services. For pregnant women, it is to access prevention of mother-to-child-transmission (PMTCT services. However, not much has been done to appraise this service from the perspective of the recipients in Nigeria. This study documents the appraisal of the HCT services received at the antenatal care (ANC services in three government hospitals in Ibadan, Nigeria, from the perspectives of pregnant women. Data were collected using focus group discussion guide among purposively selected 40 (21 primigravida and 19 multigravida pregnant women. Observation and inventory checklists were used to collect data on procedures and basic requirements of HCT. Content analysis was used to analyze the data. Participants were neither counseled nor given opportunity to voluntarily participate in HCT services as it was made compulsory before accessing ANC. Test results were reportedly handed over directly to participants without post-test counseling. Observation of HCT procedure showed that guidelines for counseling were not strictly adhered to. Inventory of facilities, staff, and materials revealed inadequate staffing, lack of a dedicated counseling room, and inadequate antiretroviral drugs and test kits. The HCT services as provided for pregnant women are fraught with procedural inadequacies. Training and supervision of health care workers as well as provision of resources are needed to address the situation.
Hodgson, Jan; Metcalfe, Sylvia; Gaff, Clara; Donath, Susan; Delatycki, Martin B; Winship, Ingrid; Skene, Loane; Aitken, MaryAnne; Halliday, Jane
When an inherited genetic condition is diagnosed in an individual it has implications for other family members. Privacy legislation and ethical considerations can restrict health professionals from communicating directly with other family members, and so it is frequently the responsibility of the first person in a family to receive the diagnosis (the proband) to share this news. Communication of genetic information is challenging and many at-risk family members remain unaware of important information that may be relevant to their or their children's health. We conducted a randomised controlled trial in six public hospitals to assess whether a specifically designed telephone counselling intervention improved family communication about a new genetic diagnosis. Ninety-five probands/parents of probands were recruited from genetics clinics and randomised to the intervention or control group. The primary outcome measure was the difference between the proportion of at-risk relatives who contacted genetics services for information and/or genetic testing. Audit of the family genetic file after 18 months revealed that 25.6% of intervention group relatives compared with 20.9% of control group relatives made contact with genetic services (adjusted odds ratio (OR) 1.30, 95% confidence interval 0.70-2.42, P=0.40). Although no major difference was detected overall between the intervention and control groups, there was more contact in the intervention group where the genetic condition conferred a high risk to offspring (adjusted OR 24.0, 95% confidence interval 3.4-168.5, P=0.001). The increasing sophistication and scope of genetic testing makes it imperative for health professionals to consider additional ways of supporting families in communicating genetic information.
Harper, Cynthia C; Henderson, Jillian T; Schalet, Amy; Becker, Davida; Stratton, Laura; Raine, Tina R
Abstinence-only education has had little demonstrable impact on teenagers' sexual behaviors, despite significant policy and funding efforts. Given the struggle over resources to improve teenagers' reproductive health outcomes, the views of clinicians serving teenagers at high risk for unintended pregnancy and STDs merit particular attention. In 2005, a qualitative study with 31 clinicians serving low-income, at-risk patients was conducted. A semistructured interview guide was used to ask clinicians about adolescent pregnancy, HIV and STD prevention counseling, and when they include abstinence. Thematic content analysis was used to examine the content of the counseling and the techniques used in different situations. Providers reported offering comprehensive counseling, presenting abstinence as a choice for teenagers, along with information about contraceptives and condoms. Several providers mentioned that with young, sexually inexperienced teenagers, they discuss delaying sexual activity and suggest other ways to be affectionate, while giving information on condoms. Providers explained how they assess whether teenagers feel ready to be sexually active and try to impart skills for healthy relationships. Some described abstinence as giving teenagers a way to opt out of unwanted sexual activity. Many support abstinence if that is the patient's desire, but routinely dispense condoms and contraceptives. Overall, providers did not give abstinence counseling as a rigid categorical concept in their preventive practices, but as a health tool to give agency to teenagers within a harm reduction framework. Their approach may be informative for adolescent policies and programs in the future.
Bott, Sarah; Neuman, Melissa; Helleringer, Stephane; Desclaux, Alice; Asmar, Khalil El; Obermeyer, Carla Makhlouf
The rapid scale-up of human immunodeficiency virus (HIV) testing, counselling and treatment throughout sub-Saharan Africa has raised questions about how to protect patients' rights to consent, confidentiality, counselling and care in resource-constrained settings. The Multi-country African Testing and Counselling for HIV (MATCH) study investigated client and provider experiences with different modes of testing in sub-Saharan Africa. One component of that study was a survey of 275 HIV service providers in Burkina Faso, Kenya and Uganda that gathered quantifiable indicators and qualitative descriptions using a standardized instrument. This article presents provider perspectives on the challenges of obtaining consent, protecting confidentiality, providing counselling and helping clients manage disclosure. It also explores health workers' fear of infection within the workplace and their reports on discrimination against HIV clients within health facilities. HIV care providers in Burkina Faso, Kenya and Uganda experienced substantial rewards from their work, including satisfaction from saving lives and gaining professional skills. They also faced serious resource constraints, including staff shortages, high workloads, lack of supplies and inadequate infrastructure, and they expressed concerns about accidental exposure. Health workers described heavy emotional demands from observing clients suffer emotional, social and health consequences of being diagnosed with HIV, and also from difficult ethical dilemmas related to clients who do not disclose their HIV status to those around them, including partners. These findings suggest that providers of HIV testing and counselling need more resources and support, including better protections against HIV exposure in the workplace. The findings also suggest that health facilities could improve care by increasing attention to consent, privacy and confidentiality and that health policy makers and ethicists need to address some
Diness, Birgitte Rode; Overbeck, Gritt; Hjortshøj, Tina Duelund
and validated with clinical genetics patients in the British NHS. This study reports the translation and adaptation of the GCOS-24 for use in Denmark. GCOS-24 was translated and back translated, supervised by an expert committee. Feedback on the first version was collected from genetic counseling patients...
Viprakasit, Vip; Tanphaichitr, Voravarn S
Two unrelated individuals previously diagnosed as hemoglobin (Hb) EE were found to be, in fact, Hb EE with Hb H disease. This globin genotype normally results as Hb EF Bart disease. This unusual genotype-phenotype interaction highlights the need for molecular analysis in affected individuals with Hb E disorders before appropriate genetic counseling and genetic risk estimation in offspring can be given.
Riel, E. van; Hubers, A.J.; Witkamp, A.J.; Dulmen, S. van; Ausems, M.G.E.M.
Objective: The referral process for genetic counselling in breast cancer patients may be compromised by patient-related factors, like patient’s age, referral initiative or cancer history. This study aimed to characterize this referral process in daily clinical practice. Methods: During genetic
El-Hazmi, Mohsen A F
Scientific advances and technical developments in the field of laboratory diagnosis and their practical applications have raised ethical issues linked to religion, beliefs, lifestyle and traditions prevailing in different communities. Some of these are pertinent to genetic screening at various stages of life, prenatal diagnosis and the right of the genetically affected fetus to live--all aspects relevant to inbreeding marriages. Of relevance are medical and ethical principles based on professional responsibility. These ideological and social aspects encounter the challenges of science and its applications in the health field, which are linked, directly or indirectly, to scientific achievements and applications related to human genetics. Analysis of the human genome and identification of its sequence, and chemical components, and theories arising from connection of human genome components in health and disease conditions, have led to global requirements to outline legal aspects and ethical principles in relation to diagnosis, prevention and health care. This paper presents basic aspects of disseminating genetic information, guiding the individual, the couple, or the concerned family through genetically induced ill health and methods of control and prevention. The paper discusses the elements and manner and presents details of the application of genetic counseling in Islamic communities in light of scientific, religious, social and legal aspects in the Islamic arena.
Mendes, Álvaro; Paneque, Milena; Sousa, Liliana; Clarke, Angus; Sequeiros, Jorge
Supporting consultands to communicate risk information with their relatives is key to obtaining the full benefits of genetic health care. To understand how health-care professionals address this issue in clinical practice and what interventions are used specifically to assist consultands in their communication of genetic information to appropriate relatives, we conducted a systematic review. Four electronic databases and four subject-specific journals were searched for papers published, in English, between January 1997 and May 2014. Of 2926 papers identified initially, 14 papers met the inclusion criteria for the review and were heterogeneous in design, setting and methods. Thematic data analysis has shown that dissemination of information within families is actively encouraged and supported by professionals. Three overarching themes emerged: (1) direct contact from genetic services: sending letters to relatives of mutation carriers; (2) professionals' encouragement of initially reluctant consultands to share relevant information with at-risk relatives and (3) assisting consultands in communicating genetic information to their at-risk relatives, which included as subthemes (i) psychoeducational guidance and (ii) written information aids. Findings suggest that professionals' practice and interventions are predicated on the need to proactively encourage family communication. We discuss this in the context of what guidance of consultands by professionals might be appropriate, as best practices to facilitate family communication, and of the limits to non-directiveness in genetic counselling.
Taegtmeyer, Miriam; Davies, Alun; Mwangome, Mary; van der Elst, Elisabeth M.; Graham, Susan M.; Price, Matt A.; Sanders, Eduard J.
The role of men who have sex with men (MSM) in the African HIV epidemic is gaining recognition yet capacity to address the HIV prevention needs of this group is limited. HIV testing and counselling is not only a critical entry point for biomedical HIV prevention interventions, such as pre-exposure prophylaxis, rectal microbicides and early treatment initiation, but is also an opportunity for focused risk reduction counselling that can support individuals living in difficult circumstances. For prevention efforts to succeed, however, MSM need to access services and they will only do so if these are non-judgmental, informative, focused on their needs, and of clear benefit. This study aimed to understand Kenyan providers' attitudes towards and experiences with counselling MSM in a research clinic targeting this group for HIV prevention. We used in-depth interviews to explore values, attitudes and cognitive and social constructs of 13 counsellors and 3 clinicians providing services to MSM at this clinic. Service providers felt that despite their growing experience, more targeted training would have been helpful to improve their effectiveness in MSM-specific risk reduction counselling. They wanted greater familiarity with MSM in Kenya to better understand the root causes of MSM risk-taking (e.g., poverty, sex work, substance abuse, misconceptions about transmission, stigma, and sexual desire) and felt frustrated at the perceived intractability of some of their clients' issues. In addition, they identified training needs on how to question men about specific risk behaviours, improved strategies for negotiating risk reduction with counselling clients, and improved support supervision from senior counsellors. This paper describes the themes arising from these interviews and makes practical recommendations on training and support supervision systems for nascent MSM HIV prevention programmes in Africa. PMID:23762241
Full Text Available The role of men who have sex with men (MSM in the African HIV epidemic is gaining recognition yet capacity to address the HIV prevention needs of this group is limited. HIV testing and counselling is not only a critical entry point for biomedical HIV prevention interventions, such as pre-exposure prophylaxis, rectal microbicides and early treatment initiation, but is also an opportunity for focused risk reduction counselling that can support individuals living in difficult circumstances. For prevention efforts to succeed, however, MSM need to access services and they will only do so if these are non-judgmental, informative, focused on their needs, and of clear benefit. This study aimed to understand Kenyan providers' attitudes towards and experiences with counselling MSM in a research clinic targeting this group for HIV prevention. We used in-depth interviews to explore values, attitudes and cognitive and social constructs of 13 counsellors and 3 clinicians providing services to MSM at this clinic. Service providers felt that despite their growing experience, more targeted training would have been helpful to improve their effectiveness in MSM-specific risk reduction counselling. They wanted greater familiarity with MSM in Kenya to better understand the root causes of MSM risk-taking (e.g., poverty, sex work, substance abuse, misconceptions about transmission, stigma, and sexual desire and felt frustrated at the perceived intractability of some of their clients' issues. In addition, they identified training needs on how to question men about specific risk behaviours, improved strategies for negotiating risk reduction with counselling clients, and improved support supervision from senior counsellors. This paper describes the themes arising from these interviews and makes practical recommendations on training and support supervision systems for nascent MSM HIV prevention programmes in Africa.
Quader, Zerleen S; Cogswell, Mary E; Fang, Jing; Coleman King, Sallyann M; Merritt, Robert K
High blood pressure is a major risk factor for cardiovascular disease. The 2013 ACC/AHA Lifestyle Management Guideline recommends counseling pre-hypertensive and hypertensive patients to reduce sodium intake. Population sodium reduction efforts have been introduced in recent years, and dietary guidelines continued to emphasize sodium reduction in 2010 and 2015. The objective of this analysis was to determine changes in primary health care providers' sodium-reduction attitudes and counseling between 2010 and 2015. Primary care internists, family/general practitioners, and nurse practitioners answered questions about sodium-related attitudes and counseling behaviors in DocStyles, a repeated cross-sectional web-based survey in the United States. Differences in responses between years were examined. In 2015, the majority (78%) of participants (n = 1,251) agreed that most of their patients should reduce sodium intake, and reported advising hypertensive (85%), and chronic kidney disease patients (71%), but not diabetic patients (48%) and African-American patients (43%) to consume less salt. Since 2010, the proportion of participants agreeing their patients should reduce sodium intake decreased while the proportion advising patients with these characteristics to consume less salt increased and the prevalence of specific types of advice declined. Changes in behaviors between surveys remained significant after adjusting for provider and practice characteristics. More providers are advising patients to consume less salt in 2015 compared to 2010; however, fewer agree their patients should reduce intake and counseling is not universally applied across patient groups at risk for hypertension. Further efforts and educational resources may be required to enable patient counseling about sodium reduction strategies.
Perry, Cassandra L; Henry, Martha J
Genetic counselors and other health professionals may encounter adoption during any counseling session. They must be skilled in using appropriate language and understand how to approach and discuss this topic with clients. A thorough knowledge of adoption as an option for clients facing a prenatal or postnatal diagnosis is necessary when presenting individuals with non-biased information needed for informed decision-making. However, three preliminary studies have demonstrated an absence of graduate education and lack of a professional knowledge base regarding this option (Mates 2008; Oksala 2007; Perry 2003). We discuss the impact of medical professionals' preconceptions on client decision-making, increasing early identification of fetal anomalies, deficiency of adoption knowledge and resources, and the resulting need for genetic counselors and other health professionals to develop their skills in discussing adoption with clients.
This article analyses the specific rights of patients with rare diseases from a dual perspective. On the one hand, they concern a new generation of patients' rights that arise once the consolidation of basic rights has occurred, fundamentally after the application of Law 41/2002 (on Regulating Patient Autonomy and Rights and Obligations in the Field of Health Documentation and Information) and its development by the autonomous communities. On the other hand, the fundamental question raises a serious issue related to these patients, which involves the principles of equality, equity, non-discrimination and solidarity. This is aimed at promoting legislative measures to protect patients' equality of access to health and social services, with the ultimate aim of improving their quality of life. The author has given special relevance in his study to the treatment of rare diseases that are genetic in origin, and to the importance of adequate genetic counseling.
Critchley, Christine; Nicol, Dianne; Otlowski, Margaret; Chalmers, Don
The success of personalised medicine depends upon the public's embracing genetic tests. Tests that claim to predict an individual's future health can now be accessed via online companies outside of conventional health regulations. This research assessed the extent to which the public embrace direct-to-consumer (DTC) genetic tests relative to those obtained by a conventional medical practitioner (MP). It also examined the reasons for differences across providers using a randomised experimental telephone survey of 1000 Australians. Results suggest that people were significantly less likely to approve of, and order a DTC genetic test administered by a company compared to a MP because they were less trusting of companies' being able to protect their privacy and provide them with access to genetic expertise and counselling. Markets for DTC genetic tests provided by companies would therefore significantly increase if trust in privacy protection and access to expertise are enhanced through regulation. © The Author(s) 2014.
Fisher, Carla L; Roccotagliata, Thomas; Rising, Camella J; Kissane, David W; Glogowski, Emily A; Bylund, Carma L
Families who face genetic disease risk must learn how to grapple with complicated uncertainties about their health and future on a long-term basis. Women who undergo BRCA 1/2 genetic testing describe uncertainty related to personal risk as well as their loved ones', particularly daughters', risk. The genetic counseling setting is a prime opportunity for practitioners to help mothers manage uncertainty in the moment but also once they leave a session. Uncertainty Management Theory (UMT) helps to illuminate the various types of uncertainty women encounter and the important role of communication in uncertainty management. Informed by UMT, we conducted a thematic analysis of 16 genetic counseling sessions between practitioners and mothers at risk for, or carriers of, a BRCA1/2 mutation. Five themes emerged that represent communication strategies used to manage uncertainty: 1) addresses myths, misunderstandings, or misconceptions; 2) introduces uncertainty related to science; 3) encourages information seeking or sharing about family medical history; 4) reaffirms or validates previous behavior or decisions; and 5) minimizes the probability of personal risk or family members' risk. Findings illustrate the critical role of genetic counseling for families in managing emotionally challenging risk-related uncertainty. The analysis may prove beneficial to not only genetic counseling practice but generations of families at high risk for cancer who must learn strategic approaches to managing a complex web of uncertainty that can challenge them for a lifetime.
Zhong, Adrina; Darren, Benedict; Dimaras, Helen
There has been little focus in the literature on how to build genetic testing and counseling services in low- and middle-income countries in a responsible, ethical, and culturally appropriate manner. It is unclear to what extent this area is being explored and what form further research should take. The proposed knowledge synthesis aims to fill this gap in knowledge and mine the existing data to determine the breadth of work in this area and identify ethical, social, and cultural issues that have emerged. An integrated knowledge translation approach will be undertaken by engaging knowledge users throughout the review to ensure relevance to their practice. Electronic databases encompassing various disciplines, such as healthcare, social sciences, and public health, will be searched. Studies that address clinical genetic testing and/or counseling and ethical, social, and/or cultural issues of these genetic services, and are performed in low- and middle-income countries as defined by World Bank will be considered for inclusion. Two independent reviewers will be involved in a two-stage literature screening process, data extraction, and quality appraisal. Studies included in the review will be analyzed by thematic analysis. A narrative synthesis guided by the social ecological model will be used to summarize findings. This systematic review will provide a foundation of evidence regarding ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries. Using the social ecological model as a conceptual framework will facilitate the understanding of broader influences of the sociocultural context on an individual's experience with clinical genetic testing and counseling, thereby informing interdisciplinary sectors in future recommendations for practice and policy. PROSPERO CRD42016042894.
Watanabe, Motoko; Matsuo, Mari; Ogawa, Masaki; Uchiyama, Toshitaka; Shimizu, Satoru; Iwasaki, Naoko; Yamauchi, Akemi; Urano, Mari; Numabe, Hironao; Saito, Kayoko
The recent advent of noninvasive prenatal testing (NIPT) has had a significant impact in the field of prenatal testing. Although reports on pregnant women who used NIPT have accumulated, little is known about the experiences of their male partners. In this study, we assessed the experiences of couples who were expecting a child and undergoing NIPT, with a focus on both the pregnant women and their partners. Questionnaires were administered to 282 participants focusing on their specific experiences at three time points: after pre-test counseling (first visit), when undergoing NIPT (second visit), and when results were received (third visit). Responses were analyzed to assess the differences between pregnant women and their partners. We found that more partners selected "family" as their first information source about NIPT and "my partner" as the first person to request NIPT than did pregnant women (35.6 vs. 5.9 %; p NIPT than their partners (89.1 vs. 54.6 %; p NIPT decision-making process. Differences between pregnant women and their partners should be seriously considered when providing genetic counseling.
Kuwata, Shigeki; Taniguchi, Shin-ichi; Kato, Atsuko; Inoue, Kazuoki; Yamamoto, Naoya; Ohkura, Tsuyoshi; Teramoto, Kei; Shigemasa, Chiaki; Kondoh, Hiroshi
This study presented a newly developed online groupware system, Metaboli-Net, to yield counseling guidance on diet and exercise to patients with metabolic syndrome. A distinctive feature adopted in the system to maintain the retention rate of patients was the social network service (SNS) that enables the patients to share their dietary and relevant health information with other participants in the same group on the network. A pilot study was conducted to prove the effectiveness of the system in improving the patient's lifestyle and dietary health awareness. SNS also contributed to the participant's adherence to intervention programs.
Nonverbal communication and conversational contribution in breast cancer genetic counseling: Are counselors' nonverbal communication and conversational contribution associated with counselees' satisfaction, needs fulfillment and state anxiety in breast cancer genetic counseling?
Dijkstra, H.; Albada, A.; Cronauer, C. Klockner; Ausems, M.G.; Dulmen, S. van
OBJECTIVE: The current study aimed to examine how counselors' nonverbal communication (i.e. nonverbal encouragements and counselee-directed eye gaze) and conversational contribution (i.e. verbal dominance and interactivity) during the final visit within breast cancer genetic counseling relate to
Nonverbal communication and conversational contribution in breast cancer genetic counseling: are counselors' nonverbal communication and conversational contribution associated with counselees' satisfaction, needs fulfillment and state anxiety in breast cancer genetic counseling?
Dijkstra, H.; Albada, A.; Klöckner Cronauer, C.; Ausems, M.G.E.M.; Dulmen, S. van
Objective: The current study aimed to examine how counselors’ nonverbal communication (i.e. nonverbal encouragements and counselee-directed eye gaze) and conversational contribution (i.e. verbal dominance and interactivity) during the ﬁnal visit within breast cancer genetic counseling relate to
Chopra, Ishveen; Kelly, Kimberly M
Genetic counseling and testing for familial cancer is a unique context for the communication of risk information in the family. This study utilized a theoretical framework based on the family systems perspective to understand intrafamilial cancer risk communication patterns in the Ashkenazi Jewish population. Individuals (n = 120) at an elevated risk for BRCA1/2 mutations were included. Change in communication patterns over time was assessed using McNemar tests. Associations with communication patterns were assessed with multivariable logistic regression. Overall, the proportion of participants encouraged by others significantly (p risk perception were more likely to be encouraged by others for genetic testing. Participant's intent to encourage family members for genetic testing from before counseling to after receipt of genetic test results decreased by 16.7%. Participants who had no personal history of cancer and had informative test results for a BRCA1/2 mutation were more likely to encourage other family members for genetic testing. In addition, qualitative findings suggested that closeness among family members, concern for family, especially future generations, and cognizance about cancer risk facilitate information sharing and encouragement for genetic testing. Our findings indicate that intrafamilial cancer risk communication varies with the structure of family relationships and that genetic counseling can play an important role in improving intrafamilial cancer risk communication.
Tatiana Dela-Sávia Ferreira
Full Text Available Objective: To identify genetic counseling programs that do not encourage therapeutic abortion for individuals with hemoglobin disorders and/or for their relatives. Method: Systematic literature review of articles published from 2001 to 2012 that are located in the PubMed, LILACS, SciELO and SCOPUS databases using keywords in Portuguese, English and Spanish and that met the inclusion and exclusion criteria described on a standardized form. Results: A total of 409 articles were located, but only eight (1.9% were selected for analysis. Conclusion: Although seldom mentioned in the literature, educational/preventive programs targeting hemoglobinopathies are feasible and allow the affected individuals to acquire knowledge on the consequences of this condition and their odds of transmitting it.
De Pina-Neto João M.
Full Text Available The impact of genetic counseling (GC was evaluated in families, who were interviewed at least two and half years and at most seven years after GC at the Genetics Service of the University Hospital, Faculty of Medicine of Ribeirão Preto, University of São Paulo (HC, FMRP, USP. The 113 families interviewed in this study were asked 48 questions and all children born after GC were studied clinically. We evaluated the families for spontaneous motivation for GC and understanding of GC information, their reproductive decisions, changes in the family after GC and the health status of new children. The majority of families seen at the Hospital das Clínicas de Ribeirão Preto were not spontaneously motivated to undergo GC. They had a low level of understanding about the information they received during GC. Generally families were using contraceptive methods (even when at low genetic risk with a consequent low rate of pregnancies and children born after GC. These families also had a very low rate of child adoption and divorces when compared to other studies.
Blue, Gillian M; Kasparian, Nadine A; Sholler, Gary F; Kirk, Edwin P; Winlaw, David S
One of the key questions asked by parents of children with congenital heart disease (CHD) is 'why' and 'how did this happen?'. Receiving more information in response to these questions is therefore important to parents. This study sought to assess the efficacy of individualised genetic counselling sessions in improving knowledge of causation and psychosocial functioning in parents of children with CHD. Parents of children undergoing surgery for CHD were offered individualised genetic counselling during their child's hospital admission. Assessments occurred at three time-points (immediately pre-, immediately post-, and two months post-session) using questionnaires comprising a purpose-designed knowledge measure, as well as validated psychological measures. Of the 94 participants approached, 57 attended the genetic counselling session (participation rate=60.6%). Knowledge scores for the participants who completed all three questionnaires improved significantly from pre- (x¯=7.38/16, SD=3.53) to post-session (x¯=13.33/16, SD=2.82) (pstress decreased. Overall satisfaction was high, with 96.4% of participants indicating they would recommend this service to other parents of children with CHD. Individualised genetic counselling sessions were highly beneficial to parents of children with CHD in regards to improving knowledge about the causes of CHD and enhancing psychosocial functioning, and should be considered as part of 'best care' practices. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.
Sie, A.S.; Zelst-Stams, W.A.G. van; Spruijt, L.; Mensenkamp, A.R.; Ligtenberg, M.J.L.; Brunner, H.G.; Prins, J.B.; Hoogerbrugge, N.
Currently, most breast cancer (BC) patients receive face-to-face genetic counseling (DNA-intake) prior to BRCA-mutation testing, with generic information regarding hereditary BC and BRCA-mutation testing. This prospective study evaluated a novel format: replacing the intake consultation with
Hagen, van M.A.E.; Janss, L.L.G.; Broeck, van den J.; Knol, B.W.
Our group developed a genetic-counselling program for boxer-dog breeders in The Netherlands, using data for cryptorchidism (uni- and/or bilateral), epilepsy, knee-problems (including ligament rupture, fractured or ruptured meniscus, severe osteo-arthrosis of the knee, or a combination of these
Vliet, L.M. van; Helpser, C.W.; Velthuizen, M.E.; Dulmen, A.M. van; Zweemer, R.P.; Witteveen, P.O.; Butter, E.S.F.A.; Luijt, R.B. van der; Gent-Wagemakers, M.P.L. van; Beijaert, R.P.H.; Wit, N.J. de; Ausems, M.G.E.M.
Background: According to recent guidelines, genetic counselling and DNA testing is recommended to all women with ovarian cancer to optimally customize follow-up for them and their kin. Since previous guidelines did not advise referral for most of these women, the majority of ovarian cancer survivors
Patel, Shilpa N.; Marks, Gary; Gardner, Lytt; Golin, Carol E.; Shinde, Sanjyot; O'Daniels, Christine; Wilson, Tracey E.; Quinlivan, E. Byrd; Banderas, Julie W.
Objective: The aim of this study was to examine whether brief training of human immunodeficiency virus (HIV) medical providers increased the frequency with which they routinely delivered prevention counselling to patients, and whether patient characteristics were associated with receipt of that counselling. Design: Longitudinal. Setting: Seven HIV…
Liebling, H; Davidson, L; Akello, G F; Ochola, G
Previous research in northern Uganda found high levels of trauma-related difficulties amongst the conflict-affected population. There is international evidence that psychological therapy can reduce depression, as one of the psychological effects of trauma, but very limited literature regarding the experiences of trauma counselling in Sub-Saharan Africa. The current British Academy and Leverhulme-funded research investigated the experiences of service users and providers of trauma services in Kitgum and Gulu, northern Uganda. It also examined their implications for mental health policy and legislation. A decision was made to utilise qualitative methodology to highlight the in-depth experiences of participants. The researcher's carried out interviews with 10 women and 10 men survivors attending trauma services in Kitgum and Gulu. The researchers also interviewed 15 key informants in Kitgum, Gulu and Kampala including trauma counselling service providers, ministers, cultural leaders and mental health professionals. The authors report the findings of the research based on thematic analysis of the interviews. Themes included the experiences of survivors, bearing witness and instilling hope, constraints to service provision, stigma and abuse, holistic approach, service providers doing their best, specialist populations, limited understanding, training and skills development, gaps in service provision and mental health policy and legislation. The interviews resulted in a clear indication that counselling and medication was valued by service users, and that service providers felt the treatments that were provided improved depression, and increased empowerment and engagement in social activities. However, the authors argue that there was a limit to the benefits that could be achieved without using the holistic approach that the survivors requested. Thus, in cases of trauma arising from conflict, there is a clear need for the state to ensure reparation and/or justice for the
Full Text Available Zachary M Ferraro,1 Kaitlin S Boehm,1 Laura M Gaudet,2,3 Kristi B Adamo1,4,5 1Healthy Active Living and Obesity Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; 2Horizon Health Network, Saint John, New Brunswick, Canada; 3Department of Obstetrics and Gynaecology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada; 4School of Human Kinetics, Faculty of Health Sciences, 5Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada Introduction: There is discord between the recall of maternity care providers and patients when it comes to discussion of gestational weight gain (GWG and obesity management. Few women report being advised on GWG, physical activity (PA, and nutrition, yet the majority of health care providers report discussing these topics with patients. We evaluated whether various Canadian maternal health care providers can identify appropriate GWG targets for patients with obesity and determine if providers report counseling on GWG, physical activity, and nutrition. Methods: A valid and reliable e-survey was created using SurveyMonkey software and distributed by the Society of Obstetricians and Gynaecologists of Canada listserve. A total of 174 health care providers finished the survey. Respondents self-identified as general practitioners, obstetricians, maternal-fetal medicine specialists, midwives, or registered nurses. Results: GWG recommendations between disciplines for all body mass index categories were similar and fell within Health Canada/Institute of Medicine (IOM guidelines. Of those who answered this question, 110/160 (68.8% were able to correctly identify the maximum IOM GWG recommended for patients with obesity, yet midwives tended to recommend 0.5–1 kg more GWG (P = 0.05. PA counseling during pregnancy differed between disciplines (P < 0.01, as did nutrition counseling during pregnancy (P < 0.05. Conclusion: In
Chen, Chih-Ping; Su, Yi-Ning; Hsu, Chin-Yuan; Chern, Schu-Rern; Tsai, Fuu-Jen; Wu, Pei-Chen; Chen, Po-Tsang; Wang, Wayseen
To present the perinatal findings and molecular genetic analysis of two siblings with Ellis-van Creveld (EvC) syndrome. A 33-year-old woman, gravida 3, para 1, was referred for genetic counseling at 18 gestational weeks because of recurrent fetal skeletal dysplasia. Two years previously, she had delivered a 1,316-g dead male baby at 28 gestational weeks with a karyotype of 46,XY, postaxial polydactyly of the hands, thoracic narrowness, endocardial cushion defects, transposition of the great arteries, shortening of the long bones, malposition of the toes, and hypoplastic nails. During this pregnancy, prenatal ultrasound at 18 gestational weeks revealed shortening of the long bones (equivalent to 15 weeks), postaxial polydactyly of both hands, thoracic narrowness, and endocardial cushion defects. The pregnancy was subsequently terminated, and a 236-g female fetus was delivered with a karyotype of 46,XX, postaxial polydactyly of the hands, thoracic dysplasia, endocardial cushion defects, shortening of the long bones, and malposition of the toes and hypoplastic nails. The phenotype of each of the two siblings was consistent with EVC syndrome. Molecular analysis of the EVC and EVC2 genes revealed heterozygous mutations in the EVC2 gene. A heterozygous deletion mutation of a 26-bp deletion of c.871-2_894del26 encompassing the junction between intron 7 and exon 8 of the EVC2 gene was found in the mother and two siblings, and a heterozygous nonsense mutation of c.1195C >T, p.R399X in exon 10 of the EVC2 gene was found in the father and two siblings. Prenatal sonographic identification of endocardial cushion defects in association with shortening of the long bones should alert clinicians to the possibility of EvC syndrome and prompt a careful search of hexadactyly of the hands. Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects
Cook, Lola; Schulze, Jeanine
There are multiple autosomal recessive disorders in which carriers may be at risk for other diseases. This observation calls into question the previous understanding that carriers of autosomal recessive disorders escape clinical consequences. We also know that childhood genetic conditions may have adult disease counterparts (Zimran et al., The Israel Medical Association Journal: IMAJ, 16(11), 723-724, 2014). Individuals who have Gaucher disease and carriers of the disorder are at increased risk for a seemingly unrelated and complex neurological condition, Parkinson disease. Parkinson disease is, in part, caused by the same mutations in the GBA gene that lead to Gaucher disease, and the two conditions are thought to have shared pathophysiology. Briefly reviewed are how these two diseases historically became linked, where their paths cross, potential problems and considerations in disclosure of the link, and current guidelines and research in this area. Genetic counseling experience with a large Parkinson disease cohort is used as a starting point to question the state of clinical and nonclinical practice in disclosing this unusual connection We conclude that more research and discussion are needed to inform practice regarding the crossroads of Gaucher and Parkinson disease.
Gu, Lidan; McCarthy Veach, Patricia; Eubanks, Sonja; LeRoy, Bonnie S; Callanan, Nancy
Boundary issues and multiple relationships potentially affect all supervision interactions. Boundary crossings are departures from the strictest professional role and may or may not benefit supervisees. Boundary violations are outside common practice and may place supervisees at significant risk. Multiple relationships occur when supervisors concurrently or consecutively hold two or more roles with supervisees. Studies in other fields indicate supervisors and supervisees may be uncertain about professional conduct regarding these issues. In this study, genetic counselor supervisors (n = 126), non-supervisors (n = 72), and genetic counseling students (n = 129) completed an anonymous survey investigating four major questions: 1) Are various boundary issues and multiple relationships perceived as differentially appropriate? 2) Do supervisor, non-supervisor, and student perceptions differ? 3) What challenging situations have respondents experienced? and 4) What management strategies did they use? There was general agreement among groups in their appropriateness ratings of 56 hypothetical supervisor behaviors, although supervisor ratings tended to reflect stricter boundaries regarding the appropriateness of interactions than student ratings. A majority rated unavoidable boundary crossings and supervisor multiple relationships involving an academic relationship as most appropriate, and romantic/sexual multiple relationships and/or boundary violations as least appropriate. Analysis of respondents' actual challenging situations revealed many involved boundary violations, placed students at risk of harm, and often resulted in student compliance.
Watts, R; Horne, D; Sandells, J; Petrie, M
This paper examines the need for a systematic way of detecting individuals likely to encounter moderate to severe psychological sequelae after being injured in a motor vehicle accident. It presents the findings of assessments of consecutive adult admissions during a six-month period to the Accident and Emergency Department of Royal Melbourne Hospital, a major acute hospital in Melbourne, within two days of being injured in a motor vehicle accident. Seventy of the 250 subjects surveyed completed the General Health Questionnaire 12 and the Impact of Event Scale questionnaire, with 77 per cent found likely to have had a psychiatric disorder. Seventy-four per cent had at least moderate levels of intrusion or avoidance phenomena. Forty-four per cent had severe levels of one or the other. Prevalence of these psychological sequelae was greater than that found in several recent studies on the effects of motor vehicle accidents. A small number (11-15 per cent) sought or received professional counselling within the first three months. This group did not differ, according to levels of intrusion, avoidance, or scores on the GHQ 12, to subjects who did not seek or receive such assistance. Results identify the necessity of investigating and implementing methods of detecting and treating the many who apparently sustain significant psychological sequelae following injury in a motor vehicle accident.
Seven, Memnun; Eroglu, Kafiye; Akyüz, Aygül; Ingvoldstad, Charlotta
The latest advances in genetics/genomics have significantly impacted prenatal screening and diagnostic tests. This cross-sectional descriptive study was conducted in inpatient and outpatient obstetric clinics in 24 hospitals in Turkey to determine knowledge of genetics related to prenatal care and the educational needs of perinatal nurses. A total of 116 nurses working in these clinics agreed to participate. The results included the level of knowledge among nurses was not affected by sociodemographic factors. Also, there is a lack of knowledge and interest in genetics among prenatal nurses and in clinical practice to provide education and counseling related to genetics in prenatal settings as a part of prenatal care. © 2017 John Wiley & Sons Australia, Ltd.
Palmer, Christina G S; Boudreault, Patrick; Baldwin, Erin E; Sinsheimer, Janet S
.... Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed...
Pope, Diana S; Deluca, Andrea N; Kali, Paula; Hausler, Harry; Sheard, Carol; Hoosain, Ebrahim; Chaudhary, Mohammad A; Celentano, David D; Chaisson, Richard E
To determine whether implementation of provider-initiated human immunodeficiency virus (HIV) counseling would increase the proportion of tuberculosis (TB) patients who received HIV counseling and testing. Cluster-randomized trial with clinic as the unit of randomization. Twenty, medium-sized primary care TB clinics in the Nelson Mandela Metropolitan Municipality, Port Elizabeth, Eastern Cape Province, South Africa. A total of 754 adults (18 years and older) newly registered as TB patients in the 20 study clinics. Implementation of provider-initiated HIV counseling and testing. Percentage of TB patients HIV counseled and tested. SECONDARY: Percentage of patients with HIV test positive, and percentage of those who received cotrimoxazole and who were referred for HIV care. : A total of 754 adults newly registered as TB patients were enrolled. In clinics randomly assigned to implement provider-initiated HIV counseling and testing, 20.7% (73/352) patients were counseled versus 7.7% (31/402) in the control clinics (P = 0.011), and 20.2% (n = 71) versus 6.5% (n = 26) underwent HIV testing (P = 0.009). Of those patients counseled, 97% in the intervention clinics accepted testing versus 79% in control clinics (P = 0.12). The proportion of patients identified as HIV infected in intervention clinics was 8.5% versus 2.5% in control clinics (P = 0.044). Fewer than 40% of patients with a positive HIV test were prescribed cotrimoxazole or referred for HIV care in either study arm. Provider-initiated HIV counseling significantly increased the proportion of adult TB patients who received HIV counseling and testing, but the magnitude of the effect was small. Additional interventions to optimize HIV testing for TB patients urgently need to be evaluated.
Pope, Diana S.; DeLuca, Andrea N.; Kali, Paula; Hausler, Harry; Sheard, Carol; Hoosain, Ebrahim; Chaudhary, Mohammed A.; Celentano, David D.; Chaisson, Richard E.
Objective To determine whether implementation of provider-initiated HIV counseling would increase the proportion of tuberculosis patients that received HIV counseling and testing. Design Cluster-randomized trial with clinic as unit of randomization Setting Twenty, medium-sized primary care TB clinics in the Nelson Mandela Metropolitan Municipality, Port Elizabeth, Eastern Cape Province, South Africa Subjects A total of 754 adults (≥ 18 years) newly registered as tuberculosis patients the twenty study clinics Intervention Implementation of provider-initiated HIV counseling and testing. Main outcome measures Percentage of TB patients HIV counseled and tested. Secondary Percentage of patients HIV test positive and percentage of those that received cotrimoxazole and who were referred for HIV care. Results A total of 754 adults newly registered as tuberculosis patients were enrolled. In clinics randomly assigned to implement provider-initiated HIV counseling and testing, 20.7% (73/352) patients were counseled versus 7.7% (31/402) in the control clinics (p = 0.011), and 20.2 % (n = 71) versus 6.5% (n = 26) underwent HIV testing (p = 0.009). Of those patients counseled, 97% in the intervention clinics accepted testing versus 79% in control clinics (p =0.12). The proportion of patients identified as HIV-infected in intervention clinics was 8.5% versus 2.5% in control clinics (p=0.044). Fewer than 40% of patients with a positive HIV test were prescribed cotrimoxazole or referred for HIV care in either study arm. Conclusions Provider-initiated HIV counseling significantly increased the proportion of adult TB patients that received HIV counseling and testing, but the magnitude of the effect was small. Additional interventions to optimize HIV testing for TB patients urgently need to be evaluated. PMID:18520677
Cazaly, Emma; Charlesworth, Jac; Dickinson, Joanne L; Holloway, Adele F
The field of epigenetics and our understanding of the mechanisms that regulate the establishment, maintenance and heritability of epigenetic patterns continue to grow at a remarkable rate. This information is providing increased understanding of the role of epigenetic changes in disease, insight into the underlying causes of these epigenetic changes and revealing new avenues for therapeutic intervention. Epigenetic modifiers are increasingly being pursued as therapeutic targets in a range of diseases, with a number of agents targeting epigenetic modifications already proving effective in diseases such as cancer. Although it is well established that DNA mutations and aberrant expression of epigenetic modifiers play a key role in disease, attention is now turning to the interplay between genetic and epigenetic factors in complex disease etiology. The role of genetic variability in determining epigenetic profiles, which can then be modified by environmental and stochastic factors, is becoming more apparent. Understanding the interplay between genetic and epigenetic factors is likely to aid in identifying individuals most likely to benefit from epigenetic therapies. This goal is coming closer to realization because of continual advances in laboratory and statistical tools enabling improvements in the integration of genomic, epigenomic and phenotypic data.
Full Text Available Abstract Background The purpose of this study was to identify mutations associated with bilateral retinoblastoma in a quadruplet conceived by in vitro fertilization, and to trace the parental origin of mutations in the four quadruplets and their father. Methods Mutational screening was carried out by sequencing. Genotyping was carried out for determining quadruplet zygosity. Results The proband was a carrier of a novel RB1 constitutive mutation (g.2056C>G which was not detected in her father or her unaffected sisters, and of two other mutations (g.39606 C>T and g.174351T>A also present in two monozygotic sisters. The novel mutation probably occurred de novo while the others were of likely maternal origin. The novel mutation, affecting the Kozak consensus at the 5'UTR of RB1 and g.174351T>A were likely associated to retinoblastoma in the proband. Conclusion Molecular diagnosis of retinoblastoma requires genotypic data of the family for determining hereditary transmission. In the case of children generated by IVF with oocytes from an anonymous donor which had been stored in a cell repository, this might not be successfully accomplished, making precise diagnosis impracticable for genetic counseling.
López-Hernández, L B; Gómez-Díaz, B; Escobar-Cedillo, R E; Gama-Moreno, O; Camacho-Molina, A; Soto-Valdés, D M; Anaya-Segura, M A; Luna-Padrón, E; Zúñiga-Guzmán, C; Lopez-Hernández, J A; Vázquez-Cárdenas, N A; Sánchez-Chapul, L; Rangel-Villalobos, H; Canto, P; López-Cardona, M G; García, S; Méndez-Covarrubias, G; Coral-Vázquez, R M
Multidisciplinary management of Duchenne Muscular Dystrophy (DMD) has achieved outstanding results in developed nations. We aimed to describe the status of diagnosis and management of DMD in a developing country through the experience of non-profit organizations. A Multistate, multiple-source, population-based survey was performed from medical records of 432 patients. Data were retrospectively collected, reviewed and curated by health specialists; including clinical features, age at first symptoms, age at diagnosis, disease progression and management, family history, education, age and cause of death. There is a delay in noticing first symptoms and it did not diminish over the past 20 years. Less than 30% of patients obtained definite diagnosis and most of them are in physiotherapy programs but not under steroid treatment. In our study, family history does not anticipate recognition of symptoms compared to sporadic cases (p = 0.05). Approximately 93.33% of our patients attended to education programs. Mean age at death was 18.94 +/- 6.73 years and the most frequent cause was pneumonia. Delayed diagnosis of DMD in Mexico is mainly caused by the late detection of first symptoms. There is no difference in early detection of symptoms between familiar and sporadic cases. Lifespan of patients in our cohort is reduced compared to developed countries. The late diagnosis and low percentage of definite cases may affect patient management and genetic counseling and could also preclude participation of patients into novel clinical trials.
Grant, Richard W; Meigs, James B; Florez, Jose C; Park, Elyse R; Green, Robert C; Waxler, Jessica L; Delahanty, Linda M; O'Brien, Kelsey E
The efficacy of diabetes genetic risk testing to motivate behavior change for diabetes prevention is currently unknown. This paper presents key issues in the design and implementation of one of the first randomized trials (The Genetic Counseling/Lifestyle Change (GC/LC) Study for Diabetes Prevention) to test whether knowledge of diabetes genetic risk can motivate patients to adopt healthier behaviors. Because individuals may react differently to receiving 'higher' vs 'lower' genetic risk results, we designed a 3-arm parallel group study to separately test the hypotheses that: (1) patients receiving 'higher' diabetes genetic risk results will increase healthy behaviors compared to untested controls, and (2) patients receiving 'lower' diabetes genetic risk results will decrease healthy behaviors compared to untested controls. In this paper we describe several challenges to implementing this study, including: (1) the application of a novel diabetes risk score derived from genetic epidemiology studies to a clinical population, (2) the use of the principle of Mendelian randomization to efficiently exclude 'average' diabetes genetic risk patients from the intervention, and (3) the development of a diabetes genetic risk counseling intervention that maintained the ethical need to motivate behavior change in both 'higher' and 'lower' diabetes genetic risk result recipients. Diabetes genetic risk scores were developed by aggregating the results of 36 diabetes-associated single nucleotide polymorphisms. Relative risk for type 2 diabetes was calculated using Framingham Offspring Study outcomes, grouped by quartiles into 'higher', 'average' (middle two quartiles) and 'lower' genetic risk. From these relative risks, revised absolute risks were estimated using the overall absolute risk for the study group. For study efficiency, we excluded all patients receiving 'average' diabetes risk results from the subsequent intervention. This post-randomization allocation strategy was
Allsbrook, Katlin; Atzinger, Carrie; He, Hua; Engelhard, Chalee; Yager, Geoffrey; Wusik, Katie
Many genetic counselors provide supervision to students during their career. Previous studies have shown genetic counselors, in general, are at increased risk for developing compassion fatigue. The purpose of this study was to determine if there was a difference in compassion fatigue and burnout levels in genetic counselors who currently supervise compared to genetic counselors who do not. Genetic counselors who currently practice in a clinical setting (N = 391) completed an online survey containing demographic questions, the Professional Quality of Life Scale, the State-Trait Anxiety Inventory, and questions specific to the genetic counselor's experiences with supervision. Overall, when controlling for trait-anxiety, the supervision role by itself was not independently associated with the risk for compassion fatigue and burnout among genetic counselors. Within supervisors, however, there were several factors which were associated with this risk. Those with less supervision experience reported more secondary traumatic stress. Those supervisors reporting less confidence had decreased compassion satisfaction. Those with less experience or less confidence in their supervision role were most likely to be at increased risk for developing compassion fatigue. Training in supervision and support for dealing with compassion fatigue and burnout may be beneficial to supervisors with less experience.
Evans, Catrin; Nalubega, Sylivia; McLuskey, John; Darlington, Nicola; Croston, Michelle; Bath-Hextall, Fiona
Global progress towards HIV prevention and care is contingent upon increasing the number of those aware of their status through HIV testing. Provider-initiated HIV testing and counseling is recommended globally as a strategy to enhance uptake of HIV testing and is primarily conducted by nurses and midwives. Research shows that provider-initiated HIV testing and counseling implementation is sub-optimal. The reasons for this are unclear. The review aimed to explore nurses' and midwives' views and experiences of the provision and management of provider-initiated HIV testing and counseling. All cadres of nurses and midwives were considered, including those who undertake routine HIV testing as part of a diverse role and those who are specifically trained as HIV counselors. Types of phenomenon of interest: The review sought to understand the views and experiences of the provision and management of provider-initiated HIV testing and counseling (including perceptions, opinions, beliefs, practices and strategies related to HIV testing and its implementation in practice). The review included only provider-initiated HIV testing and counseling. It excluded all other models of HIV testing. The review included all countries and all healthcare settings. Types of studies: This review considered all forms of qualitative study design and methodology. Qualitative elements of a mixed method study were included if they were presented separately within the publication. A three-step search strategy was utilized. Eight databases were searched for papers published from 1996 to October 2014, followed by hand searching of reference lists. Only studies published in the English language were considered. Methodological quality was assessed using the Qualitative Assessment and Review Instrument developed by the Joanna Briggs Institute. Qualitative findings were extracted using the Joanna Briggs Institute Qualitative Assessment and Review Instrument. Qualitative research findings were pooled
Tuthill, Emily L; Chan, Jessica; Butler, Lisa M
Exclusive breastfeeding (EBF) has been identified as the optimal nutrition and critical behavior in attaining human immunodeficiency virus (HIV)-free infant survival in resource-limited settings. Health-care providers (HCPs) in clinic- and community-settings throughout sub-Saharan Africa (sSA) provide infant-feeding counseling. However, rates of EBF at 6 months of age are suboptimal. HCPs are uniquely positioned to educate HIV-positive mothers and provide support by addressing known barriers to EBF. However, limited evidence exists on the experiences faced by HCPs in providing counseling on infant feeding to HIV-positive women. Our objective is to describe experiences faced by HCPs when delivering infant-feeding counseling in the context of HIV in program settings in sSA. We searched a range of electronic databases, including PubMed, CINAHL, and PsycINFO from January 1990 to February 2013, in addition to hand-searching, cross-reference searching, and personal communications. The search was limited to publications in English. Empirical studies of HCP experiences providing infant-feeding counseling in the prevention of mother-to-child transmission (PMTCT) of HIV programs in sSA were selected. We identified 10 peer-reviewed articles reporting HCP challenges in infant-feeding counseling that met inclusion criteria. Articles included qualitative, cross-sectional and mixed-method studies, and cumulatively reported 31 challenges faced by HCPs. Among the challenges identified, the most commonly reported were personal beliefs held by the HCPs toward infant feeding in the context of HIV, contradictory messages, staff workload, directive counseling styles, and a lack of practical strategies to offer mothers, often leading to improvised counseling approaches. Counseling strategies need to be developed that are relevant, meaningful, and responsive to the needs of both HCPs and mothers.
Houeijeh, Ali; Andrieux, Joris; Saugier-Veber, Pascale; David, Albert; Goldenberg, Alice; Bonneau, Dominique; Fouassier, Marc; Journel, Hubert; Martinovic, Jelana; Escande, Fabienne; Devisme, Louise; Bisiaux, Sophie; Chaffiotte, Caroline; Baux, Mathilde; Kerckaert, Jean-Pierre; Holder-Espinasse, Muriel; Manouvrier-Hanu, Sylvie
Thrombocytopenia-absent radius Syndrome (TAR) is a rare congenital malformation syndrome of complicated transmission. 1q21.1 deletion is necessary but not sufficient for its expression. We report the result of a French multicentric clinical study, and we emphasized on the role of the associated 1q21.1 deletion in the diagnosis and the genetic counselling of our patients. We gathered information on 14 patients presenting with TAR syndrome and referred for genetic counselling in six different university hospitals (8 foetuses, 1 child and 5 adults). Clinical or pathology details, as well as skeletal X-rays were analyzed. Genetic studies were performed by Array-CGH, and Quantitative Multiplex PCR. We demonstrated the very variable phenotypes of TAR syndrome. Female:male ratio was ∼2:1. All patients presented with bilateral radial aplasia/hypoplasia with preserved thumbs. Phocomelia and lower limb anomalies were present in 28% of the cases. We reported the first case of cystic hygroma on affected foetus. 1q21.1 deletions ranging from 330 to 1100 kb were identified in all affected patients. Most of them were inherited from one healthy parent (80%). The identification of a 1q21.1 deletion allowed confirmation of TAR syndrome diagnosis, particularly in foetuses and in atypical phenotypes. Additionally, it allowed accurate genetic counselling, especially when it occurred de novo. These findings allowed discussing the diagnostic criteria and management towards TAR syndrome. Copyright © 2011 Elsevier Masson SAS. All rights reserved.
Charron, Philippe; Arad, Michael; Arbustini, Eloisa; Basso, Cristina; Bilinska, Zofia; Elliott, Perry; Helio, Tiina; Keren, Ane; McKenna, William J; Monserrat, Lorenzo; Pankuweit, Sabine; Perrot, Aneas; Rapezzi, Claudio; Ristic, Arsen; Seggewiss, Hubert; van Langen, Irene; Tavazzi, Luigi
.... The aims of this position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases are to review the general issues related to genetic counselling, family...
Swailes, Alexa L; Lehman, Erik B; Perry, Amanda N; McCall-Hosenfeld, Jennifer S
Intimate partner violence (IPV) affects women worldwide, and is addressable in the health care setting not only via screening, but also through provider-based counseling and referral to legal or social services, as appropriate. We conducted a study in Pennsylvania (USA) examining factors associated with receipt of IPV screening and women's perceptions of counseling discussions as a strategic response. We found that women with past-year IPV were more likely to receive screening (aOR: 2.0, 95%CI: 1.2,3.5) and to consider counseling discussions to be a strategic response to IPV exposure (aOR: 2.7, 95%CI: 1.008,7.2) than women with a more distant history of IPV. Scholars and clinicians may learn that, especially for women with a recent history of IPV, screening may provide a conduit to meaningful counseling discussions and referrals that women view as a helpful strategy in responding to IPV.
Full Text Available There is a substantial burden of HIV infection among older children in sub-Saharan Africa, the majority of whom are diagnosed after presentation with advanced disease. We investigated the provision and uptake of provider-initiated HIV testing and counselling (PITC among children in primary health care facilities, and explored health care worker (HCW perspectives on providing HIV testing to children.Children aged 6 to 15 y attending six primary care clinics in Harare, Zimbabwe, were offered PITC, with guardian consent and child assent. The reasons why testing did not occur in eligible children were recorded, and factors associated with HCWs offering and children/guardians refusing HIV testing were investigated using multivariable logistic regression. Semi-structured interviews were conducted with clinic nurses and counsellors to explore these factors. Among 2,831 eligible children, 2,151 (76% were offered PITC, of whom 1,534 (54.2% consented to HIV testing. The main reasons HCWs gave for not offering PITC were the perceived unsuitability of the accompanying guardian to provide consent for HIV testing on behalf of the child and lack of availability of staff or HIV testing kits. Children who were asymptomatic, older, or attending with a male or a younger guardian had significantly lower odds of being offered HIV testing. Male guardians were less likely to consent to their child being tested. 82 (5.3% children tested HIV-positive, with 95% linking to care. Of the 940 guardians who tested with the child, 186 (19.8% were HIV-positive.The HIV prevalence among children tested was high, highlighting the need for PITC. For PITC to be successfully implemented, clear legislation about consent and guardianship needs to be developed, and structural issues addressed. HCWs require training on counselling children and guardians, particularly male guardians, who are less likely to engage with health care services. Increased awareness of the risk of HIV infection
van der Kwaak, Anke; Ferris, Kristina; van Kats, Jetty; Dieleman, Marjolein
OBJECTIVE: Adequately assessing quality of care poses enormous challenges. While conducting fieldwork, we were struck by the need for a framework that encapsulates provider-client encounters. Little evidence exists concerning the most effective training, and management of health staff engaged in
van der Kwaak, Anke; Ferris, Kristina; van Kats, Jetty; Dieleman, Marjolein
Adequately assessing quality of care poses enormous challenges. While conducting fieldwork, we were struck by the need for a framework that encapsulates provider-client encounters. Little evidence exists concerning the most effective training, and management of health staff engaged in sexuality, reproductive health and HIV related health services. This paper proposes a framework for analysing these encounters. This paper is based on five studies. Mixed method studies were carried out in Uganda and Kenya. Two additional studies looked into the effect of HIV on health worker performance in Uganda and Zambia. As a result of the findings, a desk review looked into factors affecting provider-client encounters in order to improve the responsiveness of programs. Positive encounters between provider and client are built on trust and respect, consist of communication, practice and process, and are influenced by space, place and context. Combining these facets allows for a better understanding of their interactions. A holistic perspective in which the breadth of dynamics and processes are described should be used when assessing the quality of provider-client encounters. Within training, management and human resource planning, these dynamics need to be utilized to realize the best possible care. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.
Ibrahim, Nahla Khamis; Bashawri, Jamel; Al Bar, Hussein; Al Ahmadi, Jawaher; Al Bar, Adnan; Qadi, Mahdi; Milaat, Waleed; Feda, Hashim
Premarital care (PMC) is a worldwide activity that aims to diagnose and treat unrecognized disorders and reduce the transmission of diseases to couples and children. To assess the knowledge and attitude of individuals attending governmental outpatient clinics regarding the Premarital Screening and Genetic Counseling (PMSGC) programs, to identify predictors of high knowledge scores and to determine the satisfaction and recommendations of clients of the program. A cross-sectional study was conducted from January to April 2009. Individuals who attended three governmental hospital outpatient clinics on the day of the interview and agreed to participate in the study were recruited. The three hospitals were the two hospitals in Jeddah that offer the PMSGC programs and the King Abdulaziz University Hospital. Ethical considerations were followed and data were collected through an interview questionnaire that had been constructed for the study. The questionnaire asked for personal and socio-demographic data and for responses, on a 5-point Likert scale, to 30 knowledge items and 14 attitude statements. Individuals who participated in the PMSGC program were asked questions regarding the services and activities of the program to ascertain their satisfaction with the program and their recommendations for program improvement. The statistical analysis was performed using SPSS version 16 (SPSS Inc., Chicago, IL). The sample included 655 participants, of whom 38.8% completed the PMSGC program. The participants' knowledge about the program was generally low. Education was the first predictor of a high knowledge score; individuals having ≥ university degree obtained a higher score (aOR=2.73; 95% CI: 1.77-4.20). The second predictor was the nationality of the participants, with Saudis gaining a higher score (aOR=2.04; 95% CI: 1.002-4.16). The third predictor was monthly income. Regarding attitudes, the vast majority of participants (96.0%) strongly agreed on the importance of the
Guidelines in the Huntington disease genetic counseling community have set a standard for the process of at-risk counseling, recommending the involvement of a multidisciplinary team, which includes a psychiatrist or psychologist. Though most studies have been largely reassuring regarding the psychologic consequences of predictive testing, there are individuals presenting to testing who really want something else other than the test results, who are being pressured by others to obtain results, or who remain deeply ambivalent about testing. Particularly concerning are those testing candidates who are highly anxious or depressed at the time of presentation. Balancing the ethical principles of autonomy with beneficence and nonmaleficence requires careful exploration of the motivations behind testing to ensure that all are fully informed of alternatives, and opportunities for further support are offered when needed. This chapter illustrates 13 areas of focus and inquiry in the psychiatric interview and gives some case examples to illustrate an approach to the psychiatric assessment and counseling of highly anxious individuals seeking genetic testing. Copyright © 2017 Elsevier B.V. All rights reserved.
Sale, Elizabeth; Hendricks, Michelle; Weil, Virginia; Miller, Collin; Perkins, Scott; McCudden, Suzanne
This paper evaluates the effectiveness of the Counseling on Access to Lethal Means (CALM) suicide prevention program. CALM trains mental health providers how to counsel suicidal individuals and those who support them on mean restriction during times of crisis. Pre/post/3-month follow-up assessments measured knowledge of lethal means, confidence and comfort in discussing means restriction (self-efficacy), and future intentions to counsel clients on means restriction. Change in the number of clients receiving lethal means counseling was also assessed. All constructs increased significantly at posttest. Confidence and counseling intentions were sustained at follow-up and significantly more clients received means counseling in the 3 months following the CALM training. Knowledge and comfort levels decreased at follow-up but not to pre-training levels. CALM is effective at increasing mental health professionals' comfort, knowledge, and frequency of talking about means restriction with clients. an effective means restriction training program. A template to assess clients for suicidality and lethal means access and booster sessions are recommended to further sustain effects.
Roura, Maria; Watson-Jones, Deborah; Kahawita, Tanya M; Ferguson, Laura; Ross, David A
The routine offer of an HIV test during patient-provider encounters is gaining momentum within HIV treatment and prevention programmes. This review examined the operational implementation of provider-initiated testing and counselling (PITC) programmes in sub-Saharan Africa. PUBMED, EMBASE, Global Health, COCHRANE Library and JSTOR databases were searched systematically for articles published in English between January 2000 and November 2010. Grey literature was explored through the websites of international and nongovernmental organizations. Eligibility of studies was based on predetermined criteria applied during independent screening by two researchers. We retained 44 studies out of 5088 references screened. PITC polices have been effective at identifying large numbers of previously undiagnosed individuals. However, the translation of policy guidance into practice has had mixed results, and in several studies of routine programmes the proportion of patients offered an HIV test was disappointingly low. There were wide variations in the rates of acceptance of the test and poor linkage of those testing positive to follow-up assessments and antiretroviral treatment. The challenges encountered encompass a range of areas from logistics, to data systems, human resources and management, reflecting some of the weaknesses of health systems in the region. The widespread adoption of PITC provides an unprecedented opportunity for identifying HIV-positive individuals who are already in contact with health services and should be accompanied by measures aimed at strengthening health systems and fostering the normalization of HIV at community level. The resources and effort needed to do this successfully should not be underestimated.
Trottier, R.W.; Hodgin, F.C.; Imara, M.; Phoenix, D.; Lybrook, S. [Morehouse Coll., Atlanta, GA (United States). School of Medicine; Crandall, L.A.; Moseley, R.E.; Armotrading, D. [Florida Univ., Gainesville, FL (United States). Coll. of Medicine
Genetic medical services provided by the Georgia Division of Public Health in two northern and two central districts are compared to services provided in a district in which a tertiary care facility is located. Genetics outreach public health nurses play key roles in Georgia`s system of Children`s Health Services Genetics Program, including significant roles as counselors and information sources on special needs social services and support organizations. Unique features of individual health districts, (e.g., the changing face of some rural communities in ethnocultural diversity and socioeconomic character), present new challenges to current and future genetics services delivery. Preparedness as to educational needs of both health professionals and the lay population is of foremost concern in light of the ever expanding knowledge and technology in medical genetics. Perspectives on genetics and an overview of services offered by a local private sector counselor are included for comparison to state supported services. The nature of the interactions which transpire between private and public genetic services resources in Georgia will be described. A special focus of this research includes issues associated with sickle cell disease newborn screening service delivery process in Georgia, with particular attention paid to patient follow-up and transition to primary care. Of particular interest to this focus is the problem of loss to follow-up in the current system. Critical factors in education and counseling of sickle cell patients and the expectations of expanding roles of primary care physicians are discussed. The Florida approach to the delivery of genetic services contrasts to the Georgia model by placing more emphasis on a consultant-specialist team approach.
Burkhardt, H; Trojan, C
Expertise in geriatrics in the field of ambulatory and hospital-based treatment does not have access to comparable medical specialist structures, such as those in internal medicine and neurology; therefore, it is recommended that geriatric diagnostics by general practitioners can be supported by networking with hospital-based geriatric centers for geriatric counseling. The attitudes and experiences of both faculties in Germany are, however, not well known. Representative samples of general practitioners and hospital-based faculty departments for internal medicine in two regions of Germany (Baden-Württemberg and Hessen) were identified using a systematic selection method. All departments of geriatrics in these regions were also contacted. Participants were asked to give their attitudes and experiences regarding geriatric counseling using a questionnaire. Responses to the questionnaire were received from 48 general practices (14.9%), 42 internal medicine departments (38.5%) and 25 hospital-based geriatric centers (34.7%). Of the general practices 79.2% reported performing geriatric assessments but only 31.3% had access to geriatric counseling. Of the faculties of internal medicine 71.4% reported providing geriatric counseling of which 16.7% also provided counseling on an outpatient basis. With respect to the spectrum of actual reasons for geriatric counseling, initiation of rehabilitative measures was the main reason in both geriatric and internal medicine departments. There were differences in the estimation of suitable rating topics for geriatric counseling. Geriatric departments more frequently indicated preventive aspects compared to general internal medicine (80% vs 47.6%) and general practices (56.3%). With respect to the domain level, general practitioners rated these in the order of cognition (72.9%), social situation (70.8%), emotion (50%), locomotion (50%) and incontinence (27.1%). Noteworthy was that they also rated much lower compared to hospital
Hu, Yu-An; Cui, Yingxia; Fan, Xiaobo; Wu, Qiuyue; Li, Weiwei; Wang, Weiping
Angelman syndrome (AS) is a neurodevelopmental disorder. AS patients concomitant with sSMC are rather rare events. It will provide more useful and proper information for genetic counseling to identify the sSMC origin. A 27-year-old woman was referred for genetic counseling and prenatal diagnosis at 26 weeks of gestation due to her elder daughter, diagnosed as Angelman syndrome (AS) with an interstitial deletion in one of the chromosomes 15, carrying a small supernumerary marker chromosome (sSMC). The G-banding results of the woman and her current fetus both were 47,XX,+mar. In this paper, fluorescence in situ hybridization (FISH) results showed that there was no deletion of chromosome 15 in the woman and fetus. We demonstrated that the proband's sSMC was maternally inherited and was an inv dup(22)(q11.1) , and that the deletion in 15q11.2-q13.1 was de novo. Taking into account above results and normal phenotypes of the proband's mother, in this case we suggest that the sSMC don't increase the recurrence risk of AS. After prenatal diagnosis, the woman chose to continue the pregnancy, and finally gave birth to a normal female infant.
Schoonveld, K Cheri; Veach, Patricia McCarthy; LeRoy, Bonnie S
Increasingly, the genetic counseling profession is recognizing the need for greater ethnic and gender diversity. Recruitment and retention efforts may be enhanced by better understanding of the experience of individuals considered to be underrepresented in the profession. In this qualitative study, 8 genetic counseling students and 7 practicing genetic counselors who were ethnic minority and/or male participated in semi-structured telephone interviews regarding how they were introduced to the field, perceived career supports and barriers, their experiences within training programs and the field, and suggestions for increasing diversity. Introduction to the field tended to be late and accidental. There were several career supports (e.g., field combines science and helping others) and barriers (e.g., lack of information about the field). Participant experiences, although primarily positive, included instances of passive, unintentional discrimination; and there were internal and external pressures to be diversity experts and positive representatives of their group. Participants reported positively impacting colleagues' cultural competency and offering a different presence within clinical settings. Suggestions for increasing diversity and research recommendations are given.
Tanuma, Kazunori; Watanabe, Fumiyuki; Maeda, Hatsuyo; Shiina, Miki; Hara, Kazuo; Kamei, Miwako
To enable community pharmacists to provide empathic patient counseling, we developed and validated a training program based on cognitive reframing, which is one of the cognitive behavioral therapies. We divided 24 community pharmacists into two groups, providing training to the intervention group. The duration of the training program was two hours per session, with a total of eight hours. We conducted a survey of the intervention group to evaluate their training experience. In addition, we performed two role-play scenarios on patient counseling using simulated patients, evaluating the patient counseling alliance scores and the degrees of the psychological distance between the patients and pharmacists. The degree of satisfaction correlated with four training items, including "explanation by comics". When pharmacists felt that the cognitive behavioral therapy approach was successful, no significant differences were found in the patient counseling alliance grades. However, the psychological distance between the patients and pharmacists was smaller. We were able to infer that a cognitive behavioral therapy approach could decrease the psychological distance between patients and pharmacists, thereby enabling empathic patient counseling.
Sie, A.S.; Spruijt, L.; Zelst-Stams, W.A. van; Mensenkamp, A.R.; Ligtenberg, M.J.L.; Brunner, H.G.; Prins, J.B.; Hoogerbrugge-van der Linden, N.
BACKGROUND: Current practice for patients with breast cancer referred for genetic counseling, includes face-to-face consultations with a genetic counselor prior to and following DNA-testing. This is based on guidelines regarding Huntington's disease in anticipation of high psychosocial impact of
Yu, Hongyao; Frank, Christoph; Sundquist, Jan; Hemminki, Akseli; Hemminki, Kari
It has been proposed that cancer is more common in some families than in others, but the hypothesis lacks population level support. We use a novel approach by studying any cancers in large three-generation families and thus are able to find risks even though penetrance is low. Individuals in the nation-wide Swedish Family-Cancer Database were organised in three generations and the relative risk (RR) of cancer was calculated to the persons in the third generation by the numbers of patients with cancer in generations 1, 2 and 3. The RRs for any cancer in generation 3 increased by the numbers of affected relatives, reaching 1.61 when at least seven relatives were diagnosed. The median patient had two affected relatives, and 7.0% had five or more affected relatives with an RR of 1.46, which translated to an absolute risk of 21.5% compared with 14.7% in population by age 65 years. For prostate cancer, the RR was 2.85 with four or more affected family members with any cancer, and it increased to 14.42 with four or more concordant cancers in family members. RRs for prostate cancer were approximately equal (2.70 vs 2.85) if a man had one relative with prostate cancer or four or more relatives diagnosed with any cancer. A strong family history of cancer, regardless of tumour type, increases cancer risk of family members and calls for mechanistic explanations. Our data provide tools for counselling of patients with cancer with both low and high familiar risks. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.
Genetic nurse counsellors can be an acceptable and cost-effective alternative to clinical geneticists for breast cancer risk genetic counselling. Evidence from two parallel randomised controlled equivalence trials.
Torrance, N; Mollison, J; Wordsworth, S; Gray, J; Miedzybrodzka, Z; Haites, N; Grant, A; Campbell, M; Watson, M S; Clarke, A; Wilson, B
This study compared genetic nurse counsellors with standard services for breast cancer genetic risk counselling services in two regional genetics centres, in Grampian region, North East Scotland and in Cardiff, Wales. Women referred for genetic counselling were randomised to an initial genetic counselling appointment with either a genetic nurse counsellor (intervention) or a clinical geneticist (current service, control). Participants completed postal questionnaires before, immediately after the counselling episode and 6 months later to assess anxiety, general health status, perceived risk and satisfaction. A parallel economic evaluation explored factors influencing cost-effectiveness. The two concurrent randomised controlled equivalence trials were conducted and analysed separately. In the Grampian trial, 289 patients (193 intervention, 96 control) and in the Wales trial 297 patients (197 intervention and 100 control) returned a baseline questionnaire and attended their appointment. Analysis suggested at least likely equivalence in anxiety (the primary outcome) between the two arms of the trials. The cost per counselling episode was 11.54 UK pounds less for nurse-based care in the Grampian trial and 12.50 UK pounds more for nurse-based care in Cardiff. The costs were sensitive to the grade of doctor (notionally) replaced and the extent of consultant supervision required by the nurse. In conclusion, care based on genetic nurse counsellors was not significantly different from conventional cancer genetic services in both trial locations.
Full Text Available Retinoblastoma (RB is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. Early diagnosis and identification of carriers of heritable RB1 mutations can improve disease outcome and management. In this study, mutational analysis was conducted on fifty-nine matched tumor and peripheral blood samples from 18 bilateral and 41 unilateral unrelated RB cases by a combinatorial approach of Multiplex Ligation-dependent Probe Amplification (MLPA assay, deletion screening, direct sequencing, copy number gene dosage analysis and methylation assays. Screening of both blood and tumor samples yielded a mutation detection rate of 94.9% (56/59 while only 42.4% (25/59 of mutations were detected if blood samples alone were analyzed. Biallelic mutations were observed in 43/59 (72.9% of tumors screened. There were 3 cases (5.1% in which no mutations could be detected and germline mutations were detected in 19.5% (8/41 of unilateral cases. A total of 61 point mutations were identified, of which 10 were novel. There was a high incidence of previously reported recurrent mutations, occurring at 38.98% (23/59 of all cases. Of interest were three cases of mosaic RB1 mutations detected in the blood from patients with unilateral retinoblastoma. Additionally, two germline mutations previously reported to be associated with low-penetrance phenotypes: missense-c.1981C>T and splice variant-c.607+1G>T, were observed in a bilateral and a unilateral proband, respectively. These findings have implications for genetic counselling and risk prediction for the affected families. This is the first published report on the spectrum of mutations in RB patients from Singapore and shows that further improved mutation screening strategies are required in order to provide a definitive molecular diagnosis for every case of RB. Our findings also underscore the importance of genetic testing in supporting individualized disease management plans for patients and
Tomar, Swati; Sethi, Raman; Sundar, Gangadhara; Quah, Thuan Chong; Quah, Boon Long; Lai, Poh San
Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. Early diagnosis and identification of carriers of heritable RB1 mutations can improve disease outcome and management. In this study, mutational analysis was conducted on fifty-nine matched tumor and peripheral blood samples from 18 bilateral and 41 unilateral unrelated RB cases by a combinatorial approach of Multiplex Ligation-dependent Probe Amplification (MLPA) assay, deletion screening, direct sequencing, copy number gene dosage analysis and methylation assays. Screening of both blood and tumor samples yielded a mutation detection rate of 94.9% (56/59) while only 42.4% (25/59) of mutations were detected if blood samples alone were analyzed. Biallelic mutations were observed in 43/59 (72.9%) of tumors screened. There were 3 cases (5.1%) in which no mutations could be detected and germline mutations were detected in 19.5% (8/41) of unilateral cases. A total of 61 point mutations were identified, of which 10 were novel. There was a high incidence of previously reported recurrent mutations, occurring at 38.98% (23/59) of all cases. Of interest were three cases of mosaic RB1 mutations detected in the blood from patients with unilateral retinoblastoma. Additionally, two germline mutations previously reported to be associated with low-penetrance phenotypes: missense-c.1981C>T and splice variant-c.607+1G>T, were observed in a bilateral and a unilateral proband, respectively. These findings have implications for genetic counselling and risk prediction for the affected families. This is the first published report on the spectrum of mutations in RB patients from Singapore and shows that further improved mutation screening strategies are required in order to provide a definitive molecular diagnosis for every case of RB. Our findings also underscore the importance of genetic testing in supporting individualized disease management plans for patients and asymptomatic
Kayigamba, Felix R.; van Santen, Daniëla; Bakker, Mirjam I.; Lammers, Judith; Mugisha, Veronicah; Bagiruwigize, Emmanuel; de Naeyer, Ludwig; Asiimwe, Anita; Schim van der Loeff, Maarten F.
Provider-initiated HIV testing and counselling (PITC) is promoted as a means to increase HIV case finding. We assessed the effectiveness of PITC to increase HIV testing rate and HIV case finding among outpatients in Rwandan health facilities (HF). PITC was introduced in six HFs in 2009-2010. HIV
Antonio Sérgio Ramalho
Full Text Available O aconselhamento genético é um componente importante da conduta médica na doença falciforme, apresentando relevantes implicações médicas, psicológicas, sociais, éticas e jurídicas. No presente trabalho são apresentadas as considerações sobre esse processo, elaboradas pelo Serviço de Aconselhamento Genético em Hemoglobinopatias da Unicamp, mediante solicitação do Programa Nacional de Atenção Integral às Pessoas com Doença Falciforme e outras Hemoglobinopatias do Ministério da Saúde.Genetic counseling is a major component of medical conduct in sickle cell disease with relevant medical, psychological, social, ethical and judicial implications. In the current work considerations of this process elaborated by the Genetic Counseling Service on Hemoglobinopathies of Unicamp at the request of the National Program of Comprehensive Care to Sufferers of Sickle Cell Disease and other Hemoglobinopathies, of the Brazilian Ministry of Health, are presentedl.
Jensen, Lars Henrik; Dysager, Lars; Lindebjerg, Jan
Lynch syndrome is associated with deficiency of the mismatch repair genes MLH1, MSH2, MSH6 or PMS2. However, most MLH1 deficient tumours are sporadic in origin, and they can be identified if harbouring a BRAF V600E mutation or hypermethylation of the MLH1 gene promoter. The aim of this study was ...... with hereditary cancer. It is feasible to perform a molecular screening to select patients for genetic counselling.......Lynch syndrome is associated with deficiency of the mismatch repair genes MLH1, MSH2, MSH6 or PMS2. However, most MLH1 deficient tumours are sporadic in origin, and they can be identified if harbouring a BRAF V600E mutation or hypermethylation of the MLH1 gene promoter. The aim of this study...... was to validate our previously suggested clinically applicable strategy based on molecular characteristics for identifying which patients to refer for genetic counselling. The strategy was validated in an unselected cohort of 287 colorectal cancer patients. All tumours were tested for MLH1, PMS2, MSH2 and MSH6...
Catania, Chiara; Feroce, Irene; Barile, Monica; Goldhirsch, Aron; De Pas, Tommaso; de Braud, Filippo; Boselli, Sabrina; Adamoli, Laura; Radice, Davide; Rossi, Alessandra; Spitaleri, Gianluca; Noberasco, Cristina; Bonanni, Bernardo
Subjects referred to genetic counselling for cancer may have heightened perceptions of illness and death, even though they are healthy and this may cause anxiety and reluctance to follow through with consultation. We investigated such perceptions before and after counselling and genetic testing for cancer in a cohort of Italian women. We sought to understand the situation of the women referred by designing questionnaires administered to women at high risk of breast and/or ovarian cancer (those who had had a pathogenic mutation identified in a family member via diagnostic testing). We also assessed women after the diagnosis of breast cancers, but free of disease, to help determine risks in their families. The first questionnaires were administered before initial counselling, and the second were completed within 20 days after the counselling. When a genetic test was proposed, the individual was asked to fill in a third questionnaire; the final questionnaire was administered after the person had received the results of the genetic test. We evaluated 204 subjects. Before counselling, 89 % of the subjects were worried about their risk of disease, 52 % felt "different" because of their personal and family history, and 39 % declared that their life choices were influenced by their fear of cancer. After counselling, 82 % of the subjects felt more relived about their pre-existing fears and stated that this process of being seen in a clinic with genetic expertise had clarified the meaning of disease risk for them, and for 50 %, this experience had positively influenced their life choices. Thirty percentage of the subjects had a positive test; all of them felt safer in being cared for by specifically trained staff. Fifty percentage had a less informative test (e.g. "wild-type" gene found); 84 % of them were not worried by the uncertainty, and overall, 96 % considered counselling to be very useful. Candidates for genetic counselling frequently had heightened their perception
Tuberculosis (TB) is the second most common cause of death from infectious disease in the world after human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS). Immunosuppressed HIV-infected persons are highly susceptible to TB disease, and countries in sub-Saharan Africa have the highest TB incidence rates, primarily because of the HIV epidemic. In Zambia, the TB rate increased during 1984-2005 from approximately 100 cases per 100,000 population to 580 cases per 100,000 population. Much of this increase has been attributed to the high rate of coinfection with HIV; currently, an estimated 50%-70% of TB patients are infected with HIV (N. Kapata, Ministry of Health, Zambia, personal communication, 2008). In 2007, the World Health Organization (WHO) recommended that countries with high coinfection rates develop TB/HIV collaborative activities, including routine provider-initiated HIV testing and counseling (PITC) of TB patients in TB clinical settings, using an "opt-out" approach. This report summarizes results from a PITC pilot study conducted by the Zambian Ministry of Health, with assistance from the CDC Global AIDS Program Zambia, during September 2004-December 2006 with TB patients at three clinics in the Livingstone District in the Southern Province of Zambia. The results indicated that, among 4,148 persons who had TB diagnosed, 2,072 (50%) were tested for HIV; of these, 1,497 (72%) tested positive. These findings demonstrate the practicality and acceptance of PITC and HIV rapid testing and support the need to expand this program to TB clinical settings in Zambia and other countries with high rates of TB and HIV.
Jorde, L.B.; Carey, J.C.; White, R.L.
This book on the subject of medical genetics is a textbook aimed at a very broad audience: principally, medical students, nursing students, graduate, and undergraduate students. The book is actually a primer of general genetics as applied to humans and provides a well-balanced introduction to the scientific and clinical basis of human genetics. The twelve chapters include: Introduction, Basic Cell Biology, Genetic Variation, Autosomal Dominant and Recessive Inheritance, Sex-linked and Mitochondrial Inheritance, Clinical Cytogenetics, Gene Mapping, Immunogenetics, Cancer Genetics, Multifactorial Inheritance and Common Disease, Genetic Screening, Genetic Diagnosis and Gene Therapy, and Clinical Genetics and Genetic Counseling.
Puig, Susana; Potrony, Miriam; Cuellar, Francisco; Puig-Butille, Joan Anton; Carrera, Cristina; Aguilera, Paula; Nagore, Eduardo; Garcia-Casado, Zaida; Requena, Celia; Kumar, Rajiv; Landman, Gilles; Costa Soares de Sá, Bianca; Gargantini Rezze, Gisele; Facure, Luciana; de Avila, Alexandre Leon Ribeiro; Achatz, Maria Isabel; Carraro, Dirce Maria; Duprat Neto, João Pedreira; Grazziotin, Thais C; Bonamigo, Renan R; Rey, Maria Carolina W; Balestrini, Claudia; Morales, Enrique; Molgo, Montserrat; Bakos, Renato Marchiori; Ashton-Prolla, Patricia; Giugliani, Roberto; Larre Borges, Alejandra; Barquet, Virginia; Pérez, Javiera; Martínez, Miguel; Cabo, Horacio; Cohen Sabban, Emilia; Latorre, Clara; Carlos-Ortega, Blanca; Salas-Alanis, Julio C; Gonzalez, Roger; Olazaran, Zulema; Malvehy, Josep; Badenas, Celia
CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained. Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients. The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.Genet Med 18 7, 727-736.
... age but the respondents had significantly different counselling needs. Therefore, it is recommended that guidance and public health education be put in place to reduce the stigmatisation of sickle cell patients. In addition, wellequipped clinics should be provided to facilitate early treatment. Genetic Counselling should also ...
Skirton, H; Barnoy, S; Ingvoldstad, C.; van Kessel, I; Patch, C; O'connor, A; Serra-Juhe, C; Stayner, B; Voelckel, M-A
Genetic counsellors have been working in some European countries for at least 30 years. Although there are great disparities between the numbers, education, practice and acceptance of these professionals across Europe, it is evident that genetic counsellors and genetic nurses in Europe are working autonomously within teams to deliver patient care. The aim of this study was to use the Delphi research method to develop a core curriculum to guide the educational preparation of these professional...
Tokutomi, Tomoharu; Fukushima, Akimune; Yamamoto, Kayono; Bansho, Yasushi; Hachiya, Tsuyoshi; Shimizu, Atsushi
) Alternatively, family histories are collected using a completed foldable interview paper sheet named "f-sheet", which is identical to the questionnaire in f-treeGC. We developed a questionnaire-based family tree-creation software, named f-treeGC, which is fully compliant with international recommendations for standardized human pedigree nomenclature. The present software simplifies the process of collecting family histories and pedigrees, and has a variety of uses, from genome cohort studies or primary care to genetic counseling.
Ngangue, Patrice; Gagnon, Marie-Pierre; Bedard, Emmanuelle
The Cameroon government has made HIV testing and counselling (HTC) a priority in its HIV/AIDS strategic plan. However, there is a dearth of literature on the perspectives of providers on the quality of HTC services. The aim of this study was to explore challenges in the provision of HTC services and their implications on quality of HTC services in Douala's district hospitals. Two primary data collection methods supported by the Donabedian's model of healthcare were used to explain the challenges in the provision of HTC services and their implications on quality of HTC services. This consisted of semi-structured individual interviews with 6 nurses and 16 lay counsellors and a non-participant observation of the physical environment for HTC by site. The study sites were the prevention and voluntary testing and counselling centre (PVTCC) of the six district hospitals of the city of Douala. The study reveals concerns about confidentiality and privacy during the counselling sessions due to inadequate and limited space. An absence of consent, even verbal, was reported in one PVTCC. There is no specific accredited training curriculum that leads to a formal registration as a PVTCC staff, and some lay counsellors work without training. Lay counsellors carry the burden of HIV counselling, but the majority of them work for many years without remuneration and recognition. Another quality challenge is the high workload in the district hospitals' lab, which leads to long waiting times for HIV test results, thus contributing to failure to return for results. The findings of this study highlighted some issues such as lack of adequate space and equipment for HIV testing and counselling that hinder the quality of HTC services and should challenge the health authorities of Cameroon on the need to reorganize HTC services and create a national HIV quality assurance program.
Van Langen, I.M.; Birnie, E.; Leschot, N.J.; Bonsel, G.J.; Wilde, A.A.M.
Aims Genetic scientific knowledge is growing rapidly but how this affects clinical practice is unclear. We investigated the levels of knowledge, practical skills and clinical genetic practices of Dutch cardiologists. Methods and results A survey was designed to assess cardiologists' experience with
Full Text Available Background and Aim: Regarding the ever-increasing of genetic diseases, counseling for the prevention of these diseases has got overwhelming necessity. Thus, promoting individuals’ awareness of. genetic counseling is required. The current study aimed at determining the effect of an educational program based on Health Belief Model on knowledge, beliefs, and self-efficacy of urbanized women in need of genetic counseling. Materials and Methods: In this randomized field trial study, 80 married women in need of genetic counseling were divided into two equal case and control groups. Data collection means were a researcher-designed questionnaire consisting of demographic data and health belief model queries, which were completed by interview. Educational intervention was done during three 90 minute sessions with one week interval between each one. Finally, the obtained data was fed into SPSS (version 16 applying the statistical tests of Chi-square, repeated ANOVA, independent t-test, Mann-Whitney and Friedman for analysis; and P0.05, but the difference became significant immediately and three months after intervention (P<0.001. There was a significant difference between the knowledge, threat, perceived benefits, barriers and self-efficacy in the two groups three week intervals before and immediately after intervention, before and after the three months, immediately and after three months in the experimental group (P<0.001, but the difference was not significant in the control group. Conclusion: The results showed that educational interventions based on HBM increases women's knowledge, beliefs, and self-efficacy regarding the role of genetic counseling in the prevention of congenital malformations.
Evers, Christina; Fischer, Christine; Dikow, Nicola; Schott, Sarah
The German Consortium for hereditary breast/ovarian cancer (GC-HBOC) aims for nationwide access to professional, individualized yet structured care for families at high risk. The identification of such families remains key for optimal care. Our study evaluates counselees' characteristics, referral practices, expectations and motivations in respect to their first genetic consultation. The impact of the Angelina Jolie Effect (AJE) was prospectively assessed. All counselees could participate through a questionnaire. Groups were built in respect to neoadjuvant chemotherapy (FT) and before/after AJE. The 917 (88.5%) counselees (FT: 8.2%) were on average female (97.3%), with a mean age of 44.6, had children (71.9%), higher education (88%), personal (46.4%) or at least one first-degree relative (74.6%) with BC/OC or known BRCA1/2 mutation (11.8%), were in a relationship (76.1%), and living in a village (40.7%). The AJE is associated with significantly fewer cancelations (p = 0.005), more attendance among men (4.2% vs. 0.8%, p = 0.002), and people with familial BRCA1/2 (14.8% vs. 7.5%, p = 0.003). The majority seek information regarding their cancer risk (83%) or relatives' risk (74.8%), HBOC (69.1%), and surveillance programs for themselves (66.6%) or relatives (60.6%). Enhanced media awareness of genetic cancer motivates patients, including other patient groups. A higher number of participants, including more men, are attending GC due to the AJE. In terms of the rising complexity of genetic testing, the analysis of patients' expectations and initiators for GC suggests that there is an urgent need to develop to participate motivation analysis. The factors revealed as impediments to accessing GC-HBOC guide recommendations to optimize access to genetic counseling. Medical educational programs for primary gynecologists and families at risk might be options to reach more participants.
Samimi, Goli; Bernardini, Marcus Q; Brody, Lawrence C; Caga-Anan, Charlisse F; Campbell, Ian G; Chenevix-Trench, Georgia; Couch, Fergus J; Dean, Michael; de Hullu, Joanne A; Domchek, Susan M; Drapkin, Ronny; Spencer Feigelson, Heather; Friedlander, Michael; Gaudet, Mia M; Harmsen, Marline G; Hurley, Karen; James, Paul A; Kwon, Janice S; Lacbawan, Felicitas; Lheureux, Stephanie; Mai, Phuong L; Mechanic, Leah E; Minasian, Lori M; Myers, Evan R; Robson, Mark E; Ramus, Susan J; Rezende, Lisa F; Shaw, Patricia A; Slavin, Thomas P; Swisher, Elizabeth M; Takenaka, Masataka; Bowtell, David D; Sherman, Mark E
In May 2016, the Division of Cancer Prevention and the Division of Cancer Control and Population Sciences, National Cancer Institute, convened a workshop to discuss a conceptual framework for identifying and genetically testing previously diagnosed but unreferred patients with ovarian cancer and other unrecognized BRCA1 or BRCA2 mutation carriers to improve the detection of families at risk for breast or ovarian cancer. The concept, designated Traceback, was prompted by the recognition that although BRCA1 and BRCA2 mutations are frequent in women with ovarian cancer, many such women have not been tested, especially if their diagnosis predated changes in testing guidelines. The failure to identify mutation carriers among probands represents a lost opportunity to prevent cancer in unsuspecting relatives through risk-reduction intervention in mutation carriers and to provide appropriate reassurances to noncarriers. The Traceback program could provide an important opportunity to reach families from racial, ethnic, and socioeconomic groups who historically have not sought or been offered genetic counseling and testing and thereby contribute to a reduction in health disparities in women with germline BRCA mutations. To achieve an interdisciplinary perspective, the workshop assembled international experts in genetics, medical and gynecologic oncology, clinical psychology, epidemiology, genomics, cost-effectiveness modeling, pathology, bioethics, and patient advocacy to identify factors to consider when undertaking a Traceback program. This report highlights the workshop deliberations with the goal of stimulating research and providing a framework for pilot studies to assess the feasibility and ethical and logistical considerations related to the development of best practices for implementation of Traceback studies.
Effect of routine assessment of specific psychosocial problems on personalized communication, counselors’ awareness, and distress levels in cancer genetic counseling practice: a randomized controlled trial.
Eijzenga, Willem; Aaronson, Neil K; Hahn, Daniela E E; Sidharta, Grace N; van der Kolk, Lizet E; Velthuizen, Mary E; Ausems, Margreet G E M; Bleiker, Eveline M A
This study evaluated the efficacy of a cancer genetics–specific questionnaire in facilitating communication about, awareness of, and management of psychosocial problems, as well as in lowering distress levels. Individuals referred to genetic counseling for cancer at two family cancer clinics in The Netherlands were randomly assigned to an intervention or a control group. All participants completed the psychosocial questionnaire before counseling. In the intervention group, the counselors received the results of this questionnaire before the counseling session. All sessions were audiotaped for content analysis. Primary outcomes were the frequency with which psychosocial problems were discussed, the genetic counselors’ awareness of these problems, and their management. Secondary outcomes included cancer worries and psychological distress, duration and dynamics of the counseling, and satisfaction. The frequency with which psychosocial problems were discussed with 246 participating counselees was significantly higher in the intervention group (n = 127) than in the control group (n =119; P = .004), as was the counselors’ awareness of psychosocial problems regarding hereditary predisposition (P problems in the intervention group (P problems by questionnaire facilitates genetic counselors’ recognition and discussion of their clients’ psychosocial problems and reduces clients’ distress levels.
Evans, Catrin; Ndirangu, Eunice
In 2007 WHO/UNAIDS issued new HIV testing guidelines recommending 'provider-initiated HIV testing and counselling' (PITC). In contrast to existing 'voluntary counselling and testing' guidelines (whereby individuals self refer for testing), the PITC guidance recommends that, in countries with generalised epidemics, all patients are routinely offered an HIV test during clinical encounters. In sub-Saharan Africa, PITC aims to dramatically increase HIV testing rates so that PITC becomes a vehicle to increase access to HIV prevention and care. Nurses in this region work on the frontlines of HIV testing but have been neglected in related policy development. To provide an overview of the PITC policy guidance and to critically consider its implications for the nursing profession in sub-Saharan Africa. Policy documents and published and unpublished research were identified from organisational websites, electronic databases and conference proceedings. PITC has generated widespread debate about whether it is the right approach in a context of HIV-related stigma and lack of human/material resources. Key concerns are whether/how informed consent, privacy and confidentiality will be upheld in overstretched health care settings, and whether appropriate post-test counselling, treatment and support can be provided. Limited available evidence suggests that health systems factors and organisational/professional culture may create obstacles to effective PITC implementation. Specific findings are that: PITC greatly increases nurses' workload and work-related stress. Nurses are generally positive about PITC, but express the need for more training and managerial support. Health system constraints (lack of staff, lack of space) mean that nurses do not always have time to provide adequate counselling. A hierarchical and didactic nursing culture affects counselling quality and the boundaries between voluntary informed consent and coercion can become rather blurred. Nurses are particularly
Buchanan, Amanda; Sachs, Amy; Toler, Tomi; Tsipis, Judith
Non-invasive prenatal testing (NIPT) for select fetal trisomies became clinically available in 2011. When it was introduced, there were no recommendations from the major governing bodies in prenatal genetics regarding its incorporation. We sought to determine how genetic counselors have incorporated NIPT into clinical practice and how NIPT has changed the informed consent process. We distributed an anonymous, online survey to National Society of Genetic Counselors (NSGC) members in October 2012. There were 181 respondents who indicated they incorporated NIPT into their practice with the majority (94.1%) offering it to patients with high risk pregnancies. Of the respondents, 45.1% indicated that there should be a separate informed consent form for NIPT. Respondents indicated that a discussion about NIPT with a patient should highlight that it is a screening test, the detection rate is superior to that of maternal serum screening, it screens for specific conditions, and a positive NIPT result should be confirmed with a diagnostic test. Following data collection, the American Congress of Obstetricians and Gynecologists, the American College of Medical Genetics, and NSGC released practice guidelines surrounding NIPT. Our results demonstrate that most genetic counselors have been offering NIPT consistent with these guidelines. © 2014 John Wiley & Sons, Ltd.
Full Text Available A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9(p24. Chromosomal microarray analysis (CMA is utilized in prenatal diagnoses. A single nucleotide polymorphism microarray revealed a male fetus with balanced chromosomal translocations on 9p and balanced chromosomal rearrangements, but another chromosomal abnormality was detected. The fetus had microduplication. The child was born as a phenotypically normal male. CMA is a simple and informative procedure for prenatal genetic diagnosis. CMA is the detection of chromosomal variants of unknown clinical significance; therefore, genetic counseling is important during prenatal genetic testing.
Cunningham, Wayne; Cookson, Tim
In January 2006 the Medical Protection Society (MPS) and Medical Assurance Society (MAS) commenced a jointly funded counselling service for stressed doctors in New Zealand. Stressed and impaired doctors may impact negatively on patient care. This study aims to investigate the service's utilisation, acceptability, and utility, and to consider whether the service may improve the delivery of health services. Psychologist or psychiatrist providers of the service between January 2006 and July 2008 were asked to anonymously complete a questionnaire about the service. They forwarded a questionnaire to their Dr-clients requesting demographic and other data, and ideas as to how the service might be improved. 28 out of 41 providers submitted data on 39 out of 55 Dr-clients. 25 of the Dr-clients returned completed questionnaires. Most Dr-clients requiring 3 or fewer sessions suffered from work-related stress; those needing 10 or more sessions had diagnoses including depression, bipolar disease, prior sexual abuse, and personality disorders. Dr-clients valued confidentiality, choice, and independence of the provider, and funding of the service. They believed the service contributed to them remaining in or returning to work. Providers identified stress in both the work and home environment, noting that these overlapped. Respondents identified the need for greater publicity about the service. The MPS/MAS-funded counselling service is effective and well received, but there is insufficient awareness of its availability. Stress may result in impaired performance which can impact negatively on patient care, and the provision of counselling for stressed doctors can potentially improve the delivery of health services in New Zealand.
Full Text Available Abstract Background Primary hyperoxaluria type I (PH1 is a rare genetic disorder characterized by allelic and clinical heterogeneity. Four mutations (G170R, 33_34insC, I244T and F152I account for more than 50% of PH1 alleles and form the basis for diagnostic genetic screening for PH1. We aimed to analyze the prevalence of these specific mutations causing PH1, and to provide an accurate tool for diagnosis of presymptomatic patients as well as for prenatal diagnosis in the affected families. Methods Polymerase chain reaction/Restriction Fragment Length Polymorphism, were used to detect the four mutations in the AGXT gene in DNA samples from 57 patients belonging to 40 families. Results Two mutations causing PH1 were detected in 24 patients (42.1%, with a predominance of the I244T mutation (68% of patients and 33_34insC (in the remaining 32%. In 92% of cases, mutated alleles were in homozygous state. The presented clinical features were similar for the two mutations. The age of onset was heterogeneous with a higher frequency of the pediatric age. In 58.3% of cases, the presentation corresponded to advanced renal disease which occurred early ( Conclusion Limited mutation analysis can provide a useful first line investigation for PH1. I244T and 33_34insC presented 28.2% of identified mutations causing disease in our cohort. This identification could provide an accurate tool for prenatal diagnosis in the affected families, for genetic counselling and for detection of presymptomatic individuals.
Burton-Chase, Allison M.; Hovick, Shelly R.; Peterson, Susan K.; Marani, Salma K.; Vernon, Sally W.; Amos, Christopher I.; Frazier, Marsha L.; Lynch, Patrick M.; Gritz, Ellen R.
Purpose This study examined colonoscopy adherence and attitudes towards colorectal cancer (CRC) screening in individuals who underwent Lynch syndrome genetic counseling and testing. Methods We evaluated changes in colonoscopy adherence and CRC screening attitudes in 78 cancer-unaffected relatives of Lynch syndrome mutation carriers before pre-test genetic counseling (baseline) and at 6 and 12 months post-disclosure of test results (52 mutation-negative, 26 mutation-positive). Results While both groups were similar at baseline, at 12 months post-disclosure, a greater number of mutation-positive individuals had had a colonoscopy compared with mutation-negative individuals. From baseline to 12 months post-disclosure, the mutation-positive group demonstrated an increase in mean scores on measures of colonoscopy commitment, self-efficacy, and perceived benefits of CRC screening, and a decrease in mean scores for perceived barriers to CRC screening. Mean scores on colonoscopy commitment decreased from baseline to 6 months in the mutation-negative group. Conclusion Adherence to risk-appropriate guidelines for CRC surveillance improved after genetic counseling and testing for Lynch syndrome. Mutation-positive individuals reported increasingly positive attitudes toward CRC screening after receiving genetic test results, potentially reinforcing longer term colonoscopy adherence. PMID:23414081
... seeing a genetic counselor? Q. What is a genetic counselor? A. Genetic counselors are healthcare professionals with ... and serve as patient advocates. Q. What is genetic counseling? A. Genetic counseling is the process of ...
Joó, József Gábor; Csaba, Ákos; Szigeti, Zsanett; Rigó, János
Cases of spina bifida alone and in association with ventriculomegaly represent important but different malformations according to clinical characteristics. In our study, we analyzed the data on pregancies terminated because of isolated cases (n=307) and ventriculomegaly-associated cases (n=372) of spina bifida. In spina bifida cases in association with hydrocephalus, positive obstetric history was found approximately 1.5 times more frequently than in the isolated ones. The incidence of positive genetic history was nearly two-fold in the latter cases. In isolated cases of spina bifida, associated malformations were more common than in cases of spina bifida and ventriculomegaly together. The most frequent associated malformations were those of the urogenital system (in cases of spina bifida: 11.1%; in cases of SB+V: 9.14%). The risk of recurrence of SB+V is significantly higher than that of isolated SB (8.9% vs. 2.1%). It can be concluded that positive genetic history is more common in cases of isolated spina bifida. Malformations out of the nervous system are more commonly observed in cases of isolated spina bifida. During the prenatal diagnostics of spina bifida, sonography must focus on malformations of the urogenital system. Copyright © 2013 Elsevier GmbH. All rights reserved.
Joury, E; Alghadban, M; Elias, K; Bedi, R
To investigate the impact of an integrated oral health promotion intervention, within the Syrian national immunisation programme, which provided free preventive dental health products, without health workers' counselling, on one-year-old infants' tooth-brushing and bottle-feeding termination practices. a randomised controlled parallel-group trial. A maternal and child health centre in Sweida city, Syria. 92 mothers of one-year-old infants, attending an infant vaccination clinic, were allocated into three groups: Test, Control One and Control Two. The Test group received an oral health promotion package including an infant oral health pamphlet, a baby toothbrush, fluoride toothpaste (1,000 mg/L) and a trainer cup, without health workers' counselling. Control One received only the pamphlet, whilst Control Two received no intervention. after one month, the presence of old plaque on infants' primary teeth was checked, to assess tooth-brushing behaviour. Also, a mothers' self-completed questionnaire was administered to assess bottle-feeding use. The response rate was 100% and the attrition rate was zero. There were differences in tooth-brushing and bottle-feeding termination practices between the three groups (P⟩0.001). Infants in the Test group were less likely to have old plaque and more likely to stop bottle-feeding than their counterparts in the two control groups. There were no differences in the abovementioned outcomes between the two control groups. Providing free preventive dental health products, without health worker's counselling, in an integrated oral health promotion intervention, was an effective measure to promote infants' tooth-brushing and bottle-feeding termination practices. These findings should be supported by long-term follow up studies.
Full Text Available The German Consortium for hereditary breast/ovarian cancer (GC-HBOC aims for nationwide access to professional, individualized yet structured care for families at high risk. The identification of such families remains key for optimal care. Our study evaluates counselees' characteristics, referral practices, expectations and motivations in respect to their first genetic consultation. The impact of the Angelina Jolie Effect (AJE was prospectively assessed.All counselees could participate through a questionnaire. Groups were built in respect to neoadjuvant chemotherapy (FT and before/after AJE.The 917 (88.5% counselees (FT: 8.2% were on average female (97.3%, with a mean age of 44.6, had children (71.9%, higher education (88%, personal (46.4% or at least one first-degree relative (74.6% with BC/OC or known BRCA1/2 mutation (11.8%, were in a relationship (76.1%, and living in a village (40.7%. The AJE is associated with significantly fewer cancelations (p = 0.005, more attendance among men (4.2% vs. 0.8%, p = 0.002, and people with familial BRCA1/2 (14.8% vs. 7.5%, p = 0.003. The majority seek information regarding their cancer risk (83% or relatives' risk (74.8%, HBOC (69.1%, and surveillance programs for themselves (66.6% or relatives (60.6%.Enhanced media awareness of genetic cancer motivates patients, including other patient groups. A higher number of participants, including more men, are attending GC due to the AJE. In terms of the rising complexity of genetic testing, the analysis of patients' expectations and initiators for GC suggests that there is an urgent need to develop to participate motivation analysis. The factors revealed as impediments to accessing GC-HBOC guide recommendations to optimize access to genetic counseling. Medical educational programs for primary gynecologists and families at risk might be options to reach more participants.
Gillham, Anne; Greyling, Brenda; Wessels, Tina-Marie; Mbele, Bongi; Schwyzer, Rosemarie; Krause, Amanda; Mahlangu, Johnny
In excess of 200 people with hemophilia (PWH) and their families have received genetic counseling (GC) at the Hemophilia Comprehensive Care Centre at Charlotte Maxeke Johannesburg Academic Hospital. However, very few of their at-risk female relatives have attended GC to discuss their reproductive risks and options, or their potential bleeding risks. Limited research has been conducted internationally on factors influencing uptake of GC and testing amongst female relatives of PWH. This prospective study aimed to explore the factors that influence the uptake of GC and testing by female relatives of PWH. An open-ended semi-structured interview schedule was developed. Participants included female relatives of PWH who at least had a family member who had received GC. Seventeen participants were interviewed; 7 who had GC previously and 10 who had not. All participants who had previously received GC found the service helpful and were mothers referred because their sons had hemophilia. Of those who had not had GC, possible deterrents included: being unaware of GC service, focus in clinic on PWH and not potential carriers, misunderstood risks related to hemophilia and carrier status, fear of finding out carrier status, and non-disclosure in families. Most participants were unaware of potential bleeding risks for carriers. The information will be used to provide a better service to female relatives of PWH with a goal being to set up a dedicated hemophilia carrier clinic.
Full Text Available Genetic interactions help map biological processes and their functional relationships. A genetic interaction is defined as a deviation from the expected phenotype when combining multiple genetic mutations. In Saccharomyces cerevisiae, most genetic interactions are measured under a single phenotype - growth rate in standard laboratory conditions. Recently genetic interactions have been collected under different phenotypic readouts and experimental conditions. How different are these networks and what can we learn from their differences? We conducted a systematic analysis of quantitative genetic interaction networks in yeast performed under different experimental conditions. We find that networks obtained using different phenotypic readouts, in different conditions and from different laboratories overlap less than expected and provide significant unique information. To exploit this information, we develop a novel method to combine individual genetic interaction data sets and show that the resulting network improves gene function prediction performance, demonstrating that individual networks provide complementary information. Our results support the notion that using diverse phenotypic readouts and experimental conditions will substantially increase the amount of gene function information produced by genetic interaction screens.
Full Text Available Human immunodeficiency virus (HIV is a powerful risk factor for the development of tuberculosis. This study assessed the acceptance and associated factors that can affect provider initiated HIV testing and counseling (PITC among tuberculosis patients at the East Wollega administrative zone, Oromia regional state, western Ethiopia, from January to August, 2010. A single population proportion formula is used to calculate the total sample size of 406 and the cluster sampling technique was used to select 13 health centers that provide PITC services. The sample size was proportionally allocated to each health center. The study participants were selected using a simple random sampling technique using the lottery method. Structured questionnaire was used for collection of sociodemographic data. From the total of study subjects, 399 (98.2% TB patients were initiated for HIV test and 369 (92.5% patients accepted the initiation. Of those, 353 (95.5% patients had taken HIV test and received their results. According to the reviewed documents, the prevalence of HIV among tuberculosis (TB patients in the study area was 137 (33.7%. The logistic regression result showed the PITC was significantly associated with their knowledge about HIV (AOR = 3.22, 95% CI: 1.3–7.97, self-perceived risk (AOR = 2.93, 95% CI: 1.12–7.66, educational status (AOR = 3.51, 95% CI: 1.13–10.91, and knowledge on transmission of HIV/AIDS (AOR = 7.56, 95% CI: 1.14–40.35 which were significantly associated with the acceptance of PITC among TB patients. Therefore, this study’s results showed, the prevalence of HIV among TB patient was high; to enhance the acceptance of PITC among TB patients, health extension workers must provide health education during home-to-home visiting. TB treatment supervisors also provide counseling intensively for all forms of TB patients during their first clinical encounter.
Kobayashi, Yoko; Boudreault, Patrick; Hill, Karin; Sinsheimer, Janet S; Palmer, Christina G S
Recruiting deaf and hard-of-hearing participants, particularly sign language-users, for genetics health service research is challenging due to communication barriers, mistrust toward genetics, and researchers' unfamiliarity with deaf people. Feelings of social exclusion and lack of social cohesion between researchers and the Deaf community are factors to consider. Social marketing is effective for recruiting hard-to-reach populations because it fosters social inclusion and cohesion by focusing on the targeted audience's needs. For the deaf population this includes recognizing their cultural and linguistic diversity, their geography, and their systems for information exchange. Here we use concepts and language from social marketing to evaluate our effectiveness to engage a U.S. deaf population in a prospective, longitudinal genetic counseling and testing study. The study design was interpreted in terms of a social marketing mix of Product, Price, Place, and Promotion. Price addressed linguistic diversity by including a variety of communication technologies and certified interpreters to facilitate communication; Place addressed geography by including community-based participation locations; Promotion addressed information exchange by using multiple recruitment strategies. Regression analyses examined the study design's effectiveness in recruiting a culturally and linguistically diverse sample. 271 individuals were enrolled, with 66.1% American Sign Language (ASL)-users, 19.9% ASL + English-users, 12.6% English-users. Language was significantly associated with communication technology, participation location, and recruitment. Videophone and interpreters were more likely to be used for communication between ASL-users and researchers while voice telephone and no interpreters were preferred by English-users (Price). ASL-users were more likely to participate in community-based locations while English-users preferred medically-based locations (Place). English-users were
Background Recruiting deaf and hard-of-hearing participants, particularly sign language-users, for genetics health service research is challenging due to communication barriers, mistrust toward genetics, and researchers’ unfamiliarity with deaf people. Feelings of social exclusion and lack of social cohesion between researchers and the Deaf community are factors to consider. Social marketing is effective for recruiting hard-to-reach populations because it fosters social inclusion and cohesion by focusing on the targeted audience’s needs. For the deaf population this includes recognizing their cultural and linguistic diversity, their geography, and their systems for information exchange. Here we use concepts and language from social marketing to evaluate our effectiveness to engage a U.S. deaf population in a prospective, longitudinal genetic counseling and testing study. Methods The study design was interpreted in terms of a social marketing mix of Product, Price, Place, and Promotion. Price addressed linguistic diversity by including a variety of communication technologies and certified interpreters to facilitate communication; Place addressed geography by including community-based participation locations; Promotion addressed information exchange by using multiple recruitment strategies. Regression analyses examined the study design’s effectiveness in recruiting a culturally and linguistically diverse sample. Results 271 individuals were enrolled, with 66.1% American Sign Language (ASL)-users, 19.9% ASL + English-users, 12.6% English-users. Language was significantly associated with communication technology, participation location, and recruitment. Videophone and interpreters were more likely to be used for communication between ASL-users and researchers while voice telephone and no interpreters were preferred by English-users (Price). ASL-users were more likely to participate in community-based locations while English-users preferred medically
Bellacosa, A.; Genuardi, M.; Anti, M.; Viel, A.; Ponz de Leon, M. [Universita di Modena (Italy)
Lynch syndrome, or hereditary nonpolyposis colon cancer (HNPCC), is an autosomal dominant disease accounting for approximately 1-5% of all colorectal cancer cases. Due to the lack of pathognomonic morphological or biomolecular markers, HNPCC has traditionally posed unique problems to clinicians and geneticists alike, both in terms of diagnosis and clinical management. Recently, novel insight into the pathogenesis of this syndrome has been provided by the identification of its molecular basis. In HNPCC families, germline mutations in any of four genes encoding proteins of a specialized DNA repair system, the mismatch repair, predispose to cancer development. Mutations in mismatch repair genes lead to an overall increase of the mutation rate and are associated with a phenotype of length instability of microsatellite loci. The present report summarizes the clinicopathological aspects of HNPCC and reviews the most recent molecular and biochemical findings. 115 refs., 2 figs., 3 tabs.
The need to counsel patients with genetic ophthalmological problems is stressed in the article. Assessment of autosomal dominance or autosomal recessitivity in an individual is explained and sex-linked heredity is traced. Practical examples of genetic abnormalities, such as pigmentary retinopathy and chorodineremia, are discussed. (PHR)
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Required counseling. 21.... Chapter 35 Counseling § 21.3102 Required counseling. (a) Child. The VA counseling psychologist will provide counseling and assist in preparing the educational plan only if the eligible child or his or her...
Full Text Available Sami Abdurahman,1 Berhanu Seyoum,2 Lemessa Oljira,2 Fitsum Weldegebreal2 1Harari Regional Health Bureau, 2Haramaya University, College of Health and Medical Sciences, Harar, Ethiopia Purpose: To improve the slow uptake of HIV counseling and testing, the World Health Organization (WHO and the Joint United Nations Programme on HIV/AIDS (UNAIDS have developed draft guidelines on provider-initiated testing and counseling (PITC. Both in low- and high-income countries, mainly from outpatient clinics and tuberculosis settings, indicates that the direct offer of HIV testing by health providers can result in significant improvements in test uptake. In Ethiopia, there were limited numbers of studies conducted regarding PITC in outpatient clinics. Therefore, in this study, we have assessed the factors affecting the acceptance of PITC among outpatient clients in selected health facilities in Harar, Harari Region State, Ethiopia. Materials and methods: Institutional-based, cross-sectional quantitative and qualitative studies were conducted from February 12–30, 2011 in selected health facilities in Harar town, Harari Region State, Ethiopia. The study participants were recruited from the selected health facilities of Harar using a systematic random sampling technique. The collected data were double entered into a data entry file using Epi Info version 3.5.1. The data were transferred to SPSS software version 16 and analyzed according to the different variables. Results: A total of 362 (70.6% clients accepted PITC, and only 39.4% of clients had heard of PITC in the outpatient department service. Age, occupation, marital status, anyone who wanted to check their HIV status, and the importance of PITC were the variables that showed significant associations with the acceptance of PITC upon bivariate and multivariate analyses. The main reasons given for not accepting the tests were self-trust, not being at risk for HIV, not being ready, needing to consult their
... degrees and experience in the areas of both medical genetics and counseling. Genetic counselors work as members of ... and worried. Genetic counselors have advanced training in medical genetics and counseling to interpret tests, and guide and ...
Stockton, Rex; Guneri, Oya Yerin
This article provides a brief history of counseling and addresses the current issues and future trends of counseling in Turkey. Special emphasis is placed on the factors that impede the development of school counseling as a discipline.
Diaz, Vanessa A; Mainous, Arch G; Gavin, Jennifer K; Player, Marty S; Wright, Robert U
This study evaluates the impact of an interactive, tablet-based lifestyle behavior questionnaire prior to a patient's primary care visit on counseling for health behaviors and patient-provider relationships. Using a quasi-experimental design at 2 federally qualified health centers, adults aged 18 to 35 years were asked to complete a tablet-based assessment about nutrition, physical activity, weight, smoking status, and alcohol use to identify unhealthy behaviors and their desire to discuss them with their provider. In the intervention group, participants were more likely to trust their providers (83% vs 71%, P = .0427) and feel that their provider cared about their health (80% vs 68%, P = .0468). Overweight/obese individuals were more likely to discuss weight loss with their doctor (59% vs 33%, P = .0088). Integrating information technology into primary care to encourage providers to discuss lifestyle issues and promote a positive patient-provider relationship may help improve the health promotion in primary care practices. © The Author(s) 2015.
Hanley, Terry; Ersahin, Zehra; Sefi, Aaron; Hebron, Judith
Online counselling is increasingly being used as an alternative to face-to-face student counselling. Using an exploratory mixed methods design, this project investigated the practice by examining the types of therapeutic goals that 11- to 25-year-olds identify online in routine practice. These goals were then compared to goals identified in…
Kaste, S C; Qi, A; Smith, K; Surprise, H; Lovorn, E; Boyett, J; Ferry, R J; Relling, M V; Shurtleff, S A; Pui, C H; Carbone, L; Hudson, M M; Ness, K K
We sought to improve lumbar spine bone mineral density (LS-BMD) in long-term survivors of childhood acute lymphoblastic leukemia (ALL) using calcium and cholecalciferol supplementation. This double-blind, placebo-controlled trial randomized 275 participants (median age, 17 [9-36.1] years) with age- and gender-specific LS-BMD Z-scores <0 to receive nutritional counseling with supplementation of 1,000 mg/day calcium and 800 International Unit cholecalciferol or placebo for 2 years. The primary outcome was change in LS-BMD assessed by quantitative computerized tomography (QCT) at 24 months. Linear regression models were employed to identify the baseline risk factors for low LS-BMD and to compare LS-BMD outcomes. Pre-randomization LS-BMD below the mean was associated with male gender (P = 0.0024), White race (P = 0.0003), lower body mass index (P < 0.0001), and cumulative glucocorticoid doses of ≥ 5,000 mg (P = 0.0012). One hundred eighty-eight (68%) participants completed the study; 77% adhered to the intervention. Mean LS-BMD change did not differ between survivors randomized to supplements (0.33 ± 0.57) or placebo (0.28 ± 0.56). Participants aged 9-13 years and those 22-35 years had the greatest mean increases in LS-BMD (0.50 ± 0.66 and 0.37 ± 0.23, respectively). Vitamin D insufficiency (serum 25[OH]D <30 ng/ml) found in 296 (75%), was not associated with LS-BMD outcomes (P = 0.78). Cholecalciferol and calcium supplementation provides no added benefit to nutritional counseling for improving LS-BMD among adolescent and young adult survivors of ALL (93% of whom had LS-BMD Z-scores above the mean at study entry). © 2014 Wiley Periodicals, Inc.
Diehl, Scott R; Kuo, Fengshen; Hart, Thomas C
It has been proposed that the PST and PerioPredict genetic tests that are based on polymorphisms in interleukin 1 (IL-1) genes identify a subset of patients who experience fewer tooth extractions if provided with 2 annual preventive visits. Economic analyses indicate rationing preventive care to only "high-risk" genotypes, smokers, patients with diabetes, or combinations of these risk factors would reduce the cost of dental care by $4.8 billion annually in the United States. Data presented in the study that claimed clinical utility for the PST and PerioPredict tests were obtained for reanalysis using logistic regression to assess whether the PST genetic test, smoking, diabetes, or number of preventive visits were risk factors for tooth extraction during a span of 16 years. Consistency of risk classification by the PST (version 1) and PerioPredict (version 2) genetic tests was evaluated in different ethnic groups from the 1000 Genomes database. Multivariate analyses revealed association of tooth extraction with diabetes (P preventive visits (P = .004), but no support for the PST genetic test (P = .96) nor indication that the benefit of 2 preventive visits was affected by this genetic test (P = .58). Classification of risk was highly inconsistent between the PST (version 1) and PerioPredict (version 2) genetic tests. Two annual preventive visits were supported as beneficial for all patients, and there was no evidence that the IL-1 PST genetic test has any effect on tooth extraction risk or influences the benefits of 2 annual preventive visits. Neither IL-1 PST nor PerioPredict genetic tests are useful for rationing preventive dental care. Further research is needed to identify genetic biomarkers with robust clinical validity and clinical utility to effectively personalize the practice of dentistry. Copyright © 2015 American Dental Association. Published by Elsevier Inc. All rights reserved.
Courbil, R; Fabrigli, P; Garraud, O
In this article, we present transfusion counseling; its organization, actors, their formations and we deal with factual positions. Transfusion counseling needs better identification, tending to a homogeneous organization between every bloodbank centre.
Balmaña, Judith; Nomdedéu, Josep; Díez, Orland; Sabaté, Josep Maria; Balil, Anna; Pericay, Carles; López López, Juan José; Brunet, Joan; Baiget, Montse; Alonso, Carmen
Li-Fraumeni syndrome is a dominantly inherited disorder characterized by early-onset breast cancer, soft-tissue sarcomas and osteosarcomas, acute leukemia, adrenocortical neoplasms and central nervous system tumors. Germline mutations in gene TP53 are identified in a percentage of affected families. Eight families with aggregation of childhood sarcomas, brain tumors, breast cancers in pre-menopausal women, and renal tumors were screened for TP53 germ-line mutations. SSCP and posterior direct sequencing were performed for genetic analysis. We also report a previously undescribed family with the Li-Fraumeni syndrome carrying a germline mutation. Seven families fulfilled so-called Li-Fraumeni like criteria and one fulfilled classical criteria. A new germ-line mutation in codon 238 at exon 7 of the gene TP53 was identified in the family fulfilling classical criteria. This mutation has not been previously reported. The clinical heterogeneity as well as the molecular complexity and consequences of mutation analysis and genetic counseling make it necessary to develop protocols in this area. A multidisciplinary approach is needed; this approach should be coordinated by a Familial Cancer Genetic Counseling Unit.
Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result
Vos, Joel; Gomez-Garcia, Encarna; Oosterwijk, Jan C.; Menko, Fred H.; Stoel, Reinoud D.; van Asperen, Christi J.; Stiggelbout, Anne M.; Tibben, Aad; JANSEN, AM
Background: It has been hypothesized that the Outcomes of DNA testing (O) are better predicted and/or mediated by the counselees' Perception P) than by the actually communicated genetic Information (I). In this study, we aimed at quantifying the effect that perception has in genetic counseling for
Hohenshil, Thomas H.; Amundson, Norman E.
This article begins with a rationale for including international articles in the "Journal of Counseling & Development." Then, 2 general categories of international articles are described. First are articles that provide a general overview of counseling in a particular country. The 2nd category is more general and might involve international…
Mohebbi, Parvin; Malekpour, Padide; Kamalifard, Mahin; Atri, Shirin Barzanje; Safaeiyan, Abdolrasoul; Alizadeh, Kamyab
Premarital counseling equips couples with information about all aspects of sexuality and the related health issues. This study was aimed to assess the quality of premarital counseling services in health care centers in Tabriz. A cross-sectional study was conducted on 236 randomly selected women from premarital counseling centers in Tabriz was carried out and a self-structured instrument including items on demographic characteristics, the quality of counseling condition and providers, family planning, genetic and thalassemia counseling and sexual health was used for data gathering. The results showed that the viewpoint of clients about relationship with health care provider and condition of consultation was suitable in 75.8% and 85.2% of women, respectively. It was found that in 72.5%, 38.1% and 49.6% of clients the counseling areas were in moderate level respectively for counseling about importance of family planning, genetic counseling and thalassemia. It was indicated that 58.5% of participants expressed the sexual health aspect of the premarital classes as poor or completely poor. Our study results can provide suitable information for health policy providers to improve the quality of premarital counseling classes. In order to develop a relatively stable behavior in young couples, it is recommended that the quality of the classes would be overemphasized.
Mohebbi, Parvin; Malekpour, Padide; Kamalifard, Mahin; Atri, Shirin Barzanje; Safaeiyan, Abdolrasoul; Alizadeh, Kamyab
Background: Premarital counseling equips couples with information about all aspects of sexuality and the related health issues. This study was aimed to assess the quality of premarital counseling services in health care centers in Tabriz. Methods: A cross-sectional study was conducted on 236 randomly selected women from premarital counseling centers in Tabriz was carried out and a self-structured instrument including items on demographic characteristics, the quality of counseling condition and providers, family planning, genetic and thalassemia counseling and sexual health was used for data gathering. Results: The results showed that the viewpoint of clients about relationship with health care provider and condition of consultation was suitable in 75.8% and 85.2% of women, respectively. It was found that in 72.5%, 38.1% and 49.6% of clients the counseling areas were in moderate level respectively for counseling about importance of family planning, genetic counseling and thalassemia. It was indicated that 58.5% of participants expressed the sexual health aspect of the premarital classes as poor or completely poor. Conclusions: Our study results can provide suitable information for health policy providers to improve the quality of premarital counseling classes. In order to develop a relatively stable behavior in young couples, it is recommended that the quality of the classes would be overemphasized. PMID:24829723
Patenaude, Andrea Farkas; Schneider, Katherine A
The defining difference between genetic and traditional medicine is that genetic findings have implications not just for the patient, but also for their relatives. Discussion of a test result between parent and child is both a transformative and a translational moment in the life of a family. Parents report wanting help in talking to their children. The challenge for genetic counselors and other providers is to be able to recognize which issues are at the core of parental distress and be able to offer recommendations to empower and support parents. The complexity of potential genetic findings, including variants of uncertain significance (VUS) and incidental findings have vastly increased, requiring considerable explanation and leaving less time for discussion of emotional issues. While the nature of the testing (single gene to multigene panel and genomic testing) is dramatically changing, the nature of parent concerns remains remarkably constant. Families differ in many respects, so no "recipe" suffices to answer parents' questions about how this important task should be approached in each family. Successful consultation to parents requires true counseling, matching parents' fears and questions with information, exploration and advice specific to their concerns, their circumstances and strengths.
... Collection: Certificate of Housing Counseling: Homeownership and Certificate of Housing Counseling: Home... Counseling: Homeownership and Certificate of Housing Counseling: Home Retention. OMB Approval Number: 2502... Information and Proposed Use: Counseling certificates will provide proof to lenders and other interested...
Full Text Available : Cleft lip and/or palate are the most frequent facial congenital malformations and represent a dramatic situation at birth, which involves important functional, aesthetic, psychological and social impairment that motivates the necessity of a thorough genetic study in the view of genetic counselling. We have studied the families of 100 children with clefts born during the years 1985-1996 in Suceava county and selected from the evidences of the Children Hospital Suceava. The recurrence risk was determined in accordance with the rules of calculation for multifactorial inheritance; it varied between 2 – 5% for the majority of cases (77% which corresponds to a small risk degree; only in 23% of cases the risk varied between 6 – 15% which corresponds to a medium risk degree
Ahmed, Saeed; Schwarz, Monica; Flick, Robert J; Rees, Chris A; Harawa, Mwelura; Simon, Katie; Robison, Jeff A; Kazembe, Peter N; Kim, Maria H
To assess implementation of provider-initiated testing and counselling (PITC) for HIV in Malawi. A review of PITC practices within 118 departments in 12 Ministry of Health (MoH) facilities across Malawi was conducted. Information on PITC practices was collected via a health facility survey. Data describing patient visits and HIV tests were abstracted from routinely collected programme data. Reported PITC practices were highly variable. Most providers practiced symptom-based PITC. Antenatal clinics and maternity wards reported widespread use of routine opt-out PITC. In 2014, there was approximately 1 HIV test for every 15 clinic visits. HIV status was ascertained in 94.3% (5293/5615) of patients at tuberculosis clinics, 92.6% (30,675/33,142) of patients at antenatal clinics and 49.4% (6871/13,914) of patients at sexually transmitted infection clinics. Reported challenges to delivering PITC included test kit shortages (71/71 providers), insufficient physical space (58/71) and inadequate number of HIV counsellors (32/71) while providers from inpatient units cited the inability to test on weekends. Various models of PITC currently exist at MoH facilities in Malawi. Only antenatal and maternity clinics demonstrated high rates of routine opt-out PITC. The low ratio of facility visits to HIV tests suggests missed opportunities for HIV testing. However, the high proportion of patients at TB and antenatal clinics with known HIV status suggests that routine PITC is feasible. These results underscore the need to develop clear, standardised PITC policy and protocols, and to address obstacles of limited health commodities, infrastructure and human resources. © 2016 The Authors. Tropical Medicine & International Health Published by John Wiley & Sons Ltd.
Marokakis, Sarah; Kasparian, Nadine A; Kennedy, Sean E
Prenatal diagnosis of fetal anomalies may arouse fear, anxiety and distress in parents, and counselling may assist parents to cope with the diagnosis. This systematic review aimed to (1) synthesise the evidence on the impact of non-genetic, prenatal counselling after fetal diagnosis of a congenital anomaly on parental knowledge and psychological adjustment and (2) identify parents' preferences for the timing and format of counselling. Five electronic databases were systematically searched to identify studies assessing prenatal counselling provided to parents after prenatal diagnosis of one or more structural congenital anomalies. Data were extracted using predefined data forms, according to the preferred reporting items for systematic reviews and meta-analyses guidelines, and synthesised. Twenty four articles were included for review; most articles reported results of retrospective surveys and the quality of included studies was variable. Only three studies assessed parental anxiety, and each reported a significant decrease in anxiety following prenatal counselling. Parents expressed a preference for counselling on all aspects of their baby's anomaly as soon as possible after prenatal diagnosis, and desired written, visual and web-based information resources, and support group contacts. Although prenatal counselling reduced parental anxiety, further research is needed to adequately assess the impact of prenatal counselling on other psychological outcomes. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.
Ana Cristina Lindsay
Full Text Available Latina women in the United States (U.S. are disproportionately affected by obesity and are more likely to begin pregnancy overweight and gain excessive weight during pregnancy. The prenatal care period represents a window of opportunity for women to access the healthcare system and receive preventive services, education, nutritional support, and other social services to improve pregnancy outcomes. Excessive gestational weight gain (GWG has numerous negative short- and long-term consequences for both the mother and newborn. We explored nulliparous Latina women’s perceptions about their experiences communicating with their primary healthcare provider about GWG and physical activity (PA to identify possible intervention targets using in-depth, semi-structured interviews. Bilingual, trained research staff conducted 23 interviews with first-time pregnant Latinas between 22 and 36 weeks of gestation. Interviews were transcribed verbatim and analyzed using content analysis. Salient text passages were extracted, shortened, coded, and grouped into categories. Women, including those who self-identified as being overweight or obese prior to pregnancy, reported receiving limited or no advice from their healthcare providers about GWG or PA. Additionally, analysis revealed that although participants value information received from the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC program counselors, they would like to receive more information from their primary healthcare providers about adequate GWG. Furthermore, study findings indicate that some participants received conflicting information regarding PA during pregnancy. Study findings suggest the need for increased integration of communication and counseling about GWG and PA into prenatal care services to promote healthy weight gain and PA among low-income Latina women.
Cínthia Tavares Leal Guimarães
Full Text Available O aconselhamento genético tem a finalidade de nortear as pessoas sobre a tomada de decisões a respeito da procriação, ajudando-as a entender como a hereditariedade pode colaborar para a ocorrência ou risco de recorrência de doenças genéticas, como é o caso da anemia falciforme. Esta anemia é a doença hereditária de maior prevalência no Brasil, com complicações clínicas que podem prejudicar o desenvolvimento, a qualidade de vida e levar à morte. O presente artigo tem o intuito de elucidar a importância do aconselhamento genético para os portadores de anemia ou traço falciforme, visando salientar as principais características dessa doença, suas complicações e como é feito o diagnóstico e a captação desses doentes. O estudo realizado foi embasado no método bibliográfico, buscando estudos que dissertam sobre esse tipo de anemia e aconselhamento genético, correlacionando-os com as diretrizes e dados do Ministério da Saúde. A partir dos dados encontrados, infere-se a importância do aconselhamento genético para os indivíduos que apresentam a forma heterozigota da anemia falciforme - o traço falcêmico - e destaca-se a necessidade de implantação de programas de diagnóstico precoce e de orientação tanto genética quanto social e psicológica para as pessoas que possuem a doença ou o traço falciforme.The genetic counseling has the purpose of guiding people through a conscientious and balanced decision making process regarding procreation, helping them to understand how the hereditary succession can contribute for the occurrence or risk of recurrence of genetic illnesses, as it is the case of the sickle cell anemia. This type of anemia is the most prevalence hereditary illness in Brazil and has clinical complications that can harm the development, the quality of life and lead to death. The present article has the objective to clarify the importance of the genetic counseling for the anemia carriers or falciform
Derkach, Andriy; Zhang, Haoyu; Chatterjee, Nilanjan
Genome-wide association studies are now shifting focus from analysis of common to rare variants. As power for association testing for individual rare variants may often be low, various aggregate level association tests have been proposed to detect genetic loci. Typically, power calculations for such tests require specification of large number of parameters, including effect sizes and allele frequencies of individual variants, making them difficult to use in practice. We propose to approximate power to varying degree of accuracy using a smaller number of key parameters, including the total genetic variance explained by multiple variants within a locus. We perform extensive simulation studies to assess the accuracy of the proposed approximations in realistic settings. Using these simplified power calculations, we develop an analytic framework to obtain bounds on genetic architecture of an underlying trait given results from a genome-wide association studies with rare variants. Finally, we provide insights into the required quality of annotation/functional information for identification of likely causal variants to make meaningful improvement in power. A shiny application that allows a variety of Power Analysis of GEnetic AssociatioN Tests (PAGEANT), in R is made publicly available at https://andrewhaoyu.shinyapps.io/PAGEANT/. firstname.lastname@example.org. Supplementary data are available at Bioinformatics online.
... 28 Judicial Administration 2 2010-07-01 2010-07-01 false Drug counseling. 550.43 Section 550.43... Drug Services (Urine Surveillance and Counseling for Sentenced Inmates in Contract CTCs) § 550.43 Drug counseling. (a) Drug counseling shall be provided to sentenced inmates in contract community treatment...
... 24 Housing and Urban Development 2 2010-04-01 2010-04-01 false Counseling services. 214.300... HOUSING COUNSELING PROGRAM Program Administration § 214.300 Counseling services. (a) Basic requirements. (1) Agencies must provide counseling to current and potential homeowners and tenants to assist them...
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.6100... Recipients Counseling § 21.6100 Counseling. General. A veteran requesting or being furnished assistance under this temporary program shall be provided professional counseling services by the Vocational...
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.100... Counseling § 21.100 Counseling. (a) General. A veteran requesting or being furnished assistance under Chapter 31 shall be provided professional counseling services by Vocational Rehabilitation and Employment (VR...
Parker, Donna R; Eltinge, Sarah; Rafferty, Caitlin; Eaton, Charles B; Clarke, Jennifer G; Goldman, Roberta E
Smoking cessation is the primary goal for managing patients with chronic obstructive pulmonary disease (COPD) who smoke. However, previous studies have demonstrated poor cessation rates. The "lung age" concept (an estimate of the age at which the FEV(1) would be considered normal) was developed to present spirometry data in an understandable format and to serve as a tool to encourage smokers to quit. Primary care physicians' (PCPs) views of using lung age to help COPD patients to quit smoking were assessed. Post-intervention interviews were conducted with PCPs in the U.S. who participated in the randomized clinical trial, "Translating the GOLD COPD Guidelines into Primary Care Practice." 29 physicians completed the interview. Themes identified during interviews included: general usefulness of lung age for smoking cessation counseling, ease of understanding the concept, impact on patients' thoughts of quitting smoking, and comparison to FEV(1). Most providers found lung age easy to communicate. Moreover, some found the tool to be less judgmental for smoking cessation and others remarked on the merits of having a simple, tangible number to discuss with their patients. However, some expressed doubt over the long-term benefits of lung age and several others thought that there might be a potential backfire for healthy smokers if their lung age was ≤ to their chronological age. This study suggests that lung age was well received by the majority of PCPs and appears feasible to use with COPD patients who smoke. However, further investigation in needed to explore COPD patients' perspectives of obtaining their lung age to help motivate them to quit in randomized clinical trials.
van der Harst, Pim; Verweij, Niek
Rationale: Coronary artery disease (CAD) is a complex phenotype driven by genetic and environmental factors. Ninety-seven genetic risk loci have been identified to date, but the identification of additional susceptibility loci might be important to enhance our understanding of the genetic
Christina Evers; Christine Fischer; Nicola Dikow; Sarah Schott
.... The identification of such families remains key for optimal care. Our study evaluates counselees’ characteristics, referral practices, expectations and motivations in respect to their first genetic consultation...
Full Text Available Although the introduction of genome-wide association studies (GWAS have greatly increased the number of genes associated with common diseases, only a small proportion of the predicted genetic contribution has so far been elucidated. Studying the cumulative variation of polymorphisms in multiple genes acting in functional pathways may provide a complementary approach to the more common single SNP association approach in understanding genetic determinants of common disease. We developed a novel pathway-based method to assess the combined contribution of multiple genetic variants acting within canonical biological pathways and applied it to data from 14,000 UK individuals with 7 common diseases. We tested inflammatory pathways for association with Crohn's disease (CD, rheumatoid arthritis (RA and type 1 diabetes (T1D with 4 non-inflammatory diseases as controls. Using a variable selection algorithm, we identified variants responsible for the pathway association and evaluated their use for disease prediction using a 10 fold cross-validation framework in order to calculate out-of-sample area under the Receiver Operating Curve (AUC. The generalisability of these predictive models was tested on an independent birth cohort from Northern Finland. Multiple canonical inflammatory pathways showed highly significant associations (p 10(-3-10(-20 with CD, T1D and RA. Variable selection identified on average a set of 205 SNPs (149 genes for T1D, 350 SNPs (189 genes for RA and 493 SNPs (277 genes for CD. The pattern of polymorphisms at these SNPS were found to be highly predictive of T1D (91% AUC and RA (85% AUC, and weakly predictive of CD (60% AUC. The predictive ability of the T1D model (without any parameter refitting had good predictive ability (79% AUC in the Finnish cohort. Our analysis suggests that genetic contribution to common inflammatory diseases operates through multiple genes interacting in functional pathways.
Full Text Available Children living with HIV who are not diagnosed in infancy often remain undiagnosed until they present with advanced disease. Provider-initiated testing and counselling (PITC in health facilities is recommended for high-HIV-prevalence settings, but it is unclear whether this approach is sufficient to achieve universal coverage of HIV testing. We aimed to investigate the change in community burden of undiagnosed HIV infection among older children and adolescents following implementation of PITC in Harare, Zimbabwe.Over the course of 2 years (January 2013-January 2015, 7 primary health clinics (PHCs in southwestern Harare implemented optimised, opt-out PITC for all attendees aged 6-15 years. In February 2015-December 2015, we conducted a representative cross-sectional survey of 8-17-year-olds living in the 7 communities served by the study PHCs, who would have had 2 years of exposure to PITC. Knowledge of HIV status was ascertained through a caregiver questionnaire, and anonymised HIV testing was carried out using oral mucosal transudate (OMT tests. After 1 participant taking antiretroviral therapy was observed to have a false negative OMT result, from July 2015 urine samples were obtained from all participants providing OMTs and tested for antiretroviral drugs to confirm HIV status. Children who tested positive through PITC were identified from among survey participants using gender, birthdate, and location. Of 7,146 children in 4,251 eligible households, 5,486 (76.8% children in 3,397 households agreed to participate in the survey, and 141 were HIV positive. HIV prevalence was 2.6% (95% CI 2.2%-3.1%, and over a third of participants with HIV were undiagnosed (37.7%; 95% CI 29.8%-46.2%. Similarly, among the subsample of 2,643 (48.2% participants with a urine test result, 34.7% of those living with HIV were undiagnosed (95% CI 23.5%-47.9%. Based on extrapolation from the survey sample to the community, we estimated that PITC over 2 years identified
Davis Trisha N
Full Text Available Abstract Background Inteins are proteins that catalyze their own removal from within larger precursor proteins. In the process they splice the flanking protein sequences, termed the N-and C-terminal exteins. Large inteins frequently have a homing endonuclease that is involved in maintaining the intein in the host. Splicing and nuclease activity are independent and distinct domains in the folded structure. We show here that other biochemical activities can be incorporated into an intein in place of the endonuclease without affecting splicing and that these activities can provide genetic selection for the intein. We have coupled such a genetically marked intein with GFP as the N-terminal extein to create a cassette to introduce GFP within the interior of a targeted protein. Results The Pch PRP8 mini-intein of Penicillium chrysogenum was modified to include: 1 aminoglycoside phosphotransferase; 2 imidazoleglycerol-phosphate dehydratase, His5 from S. pombe ; 3 hygromycin B phosphotransferase; and 4 the transcriptional activator LexA-VP16. The proteins were inserted at the site of the lost endonuclease. When expressed in E. coli, all of the modified inteins spliced at high efficiency. Splicing efficiency was also greater than 96% when expressed from a plasmid in S. cerevisiae. In addition the inteins conferred either G418 or hygromycin resistance, or histidine or leucine prototropy, depending on the inserted marker and the yeast genetic background. DNA encoding the marked inteins coupled to GFP as the N-terminal extein was PCR amplified with ends homologous to an internal site in the yeast calmodulin gene CMD1. The DNA was transformed into yeast and integrants obtained by direct selection for the intein's marker. The His5-marked intein yielded a fully functional calmodulin that was tagged with GFP within its central linker. Conclusions Inteins continue to show their flexibility as tools in molecular biology. The Pch PRP8 intein can successfully
Challen, K.; Harris, H.; Kristoffersson, U.; Nippert, I.; Schmidtke, J.; Kate, L.P. ten; Benjamin, C.; Anionwu, E.; Plass, A.M.; Julian-Reynier, C.; Harris, R.
It is increasingly recognised that genetics will have to be integrated into all parts of primary health care. Previous research has demonstrated that involvement and confidence in genetics varies amongst primary care providers. We aimed to analyse perceptions of primary care providers regarding
Challen, K.; Harris, H.; Kristoffersson, U.; Nippert, I.; Schmidtke, J.; ten Kate, L.P.; Benjamin, C.; Anionwu, E.; Plass, A.M.C.; Julian-Reynier, C.; Harris, R
It is increasingly recognised that genetics will have to be integrated into all parts of primary health care. Previous research has demonstrated that involvement and confidence in genetics varies amongst primary care providers. We aimed to analyse perceptions of primary care providers regarding
... to improve a troubled relationship. You can use marriage counseling to help with many specific issues, including: Communication problems Sexual difficulties Conflicts about child rearing or blended families Substance abuse Anger Infidelity ...
Non-directional counseling of patients is introduced experientially in a 5-day residential course at the College of Ripon and New York St. John in England. Groups of 3 work on real problems presented by a doctor, with some sessions videotaped for later analysis. Over the past 5 years, 200 doctors, primarily trainees, have participated in the course. The doctors ranged in age from 25-60 years, and participated for a variety of reasons. Increasing frustration with traditional medicine, doubts about career or specialty choice, and doubts about their ability to help others were among the reasons cited for participation. The course is emotionally intense for both students and tutors, but a feeling of camaraderie develops, particularly between the trio members. Although the course was not intended to provide psychotherapy for doctors, the exploration of a patient's problem can lead to a process of self-discovery. Tutors felt keenly the inability to offer proper personal counseling for some of the participants, which highlighted the current lack of organized counseling services for doctors. The rate of suicide, drug abuse, and marital problems in the medical profession is indicative of the need for such counseling. But, because of self and public perceptions about the omnipotence of doctors, it is questionable that doctors would avail themselves of counseling services. This course might provide a realistic option, in that its overt aim is teaching a skill while covertly offering a limited amount of personal counseling.
Full Text Available Abstract Background Most agronomic plant traits result from complex molecular networks involving multiple genes and from environmental factors. One such trait is the enzymatic discoloration of fruit and tuber tissues initiated by mechanical impact (bruising. Tuber susceptibility to bruising is a complex trait of the cultivated potato (Solanum tuberosum that is crucial for crop quality. As phenotypic evaluation of bruising is cumbersome, the application of diagnostic molecular markers would empower the selection of low bruising potato varieties. The genetic factors and molecular networks underlying enzymatic tissue discoloration are sparsely known. Hitherto there is no association study dealing with tuber bruising and diagnostic markers for enzymatic discoloration are rare. Results The natural genetic diversity for bruising susceptibility was evaluated in elite middle European potato germplasm in order to elucidate its molecular basis. Association genetics using a candidate gene approach identified allelic variants in genes that function in tuber bruising and enzymatic browning. Two hundred and five tetraploid potato varieties and breeding clones related by descent were evaluated for two years in six environments for tuber bruising susceptibility, specific gravity, yield, shape and plant maturity. Correlations were found between different traits. In total 362 polymorphic DNA fragments, derived from 33 candidate genes and 29 SSR loci, were scored in the population and tested for association with the traits using a mixed model approach, which takes into account population structure and kinship. Twenty one highly significant (p Conclusions The observed trait correlations and associated marker fragments provide new insight in the molecular basis of bruising susceptibility and its natural variation. The markers diagnostic for increased or decreased bruising susceptibility will facilitate the combination of superior alleles in breeding programs. In
Kenen, Regina; Ardern-Jones, Audrey; Lynch, Elly; Eeles, Rosalind
AIM To understand more fully how health care professionals deal with the uncertainty intrinsic in counselling and treating women from hereditary breast/ovarian cancer(HBOC) families who receive inconclusive BRCA1/2 genetic test results (genetic tests which do not find a mutation to account for the family history). METHODS We conducted a small, qualitative, exploratory study using open -ended semi structured interviews of 12 geneticists, genetic counsellor/nurses, oncologists, gynaecologists and breast surgeons at a major UK cancer centre. We asked questions about; how these professionals dealt with the large amount of uncertainty raised by an inconclusive result, communicated the uncertainty involved and their feelings about presenting medical management options based on information fraught with uncertainty, the role of the media, differences in perspectives by specialty and personal feelings about the uncertainty. RESULTS Based on themes generated by the data, we proposed the concept “Ownership of Uncertainty” (sole, shared, diffused, normalised, transferred) to explain how the professionals in this study dealt with this high degree of uncertainty. A shared ownership of uncertainty was the dominant model during the presentation of information given by the professionals as part of their consultation with their patients. However, the final decision for management was left primarily to the woman seeking advice; even though several of the professionals reported feeling uneasy about this. CONCLUSION The concept “Ownership of Uncertainty helps advance the understanding of how health care professionals deal with the uncertainty intrinsic to an inconclusive BRCA1/2 genetic test result within the current social context. PMID:21254913
Kenen, Regina; Ardern-Jones, Audrey; Lynch, Elly; Eeles, Rosalind
The aim of this study was to understand more fully how healthcare professionals deal with the uncertainty intrinsic in counseling and treating women from hereditary breast/ovarian cancer families who receive inconclusive BRCA1/2 genetic test results (genetic tests that do not find a mutation to account for the family history). We conducted a small, qualitative, exploratory study using open-ended semistructured interviews of 12 geneticists, genetic counselor/nurses, oncologists, gynecologists, and breast surgeons at a major UK cancer center. We asked questions about how these professionals dealt with the large amount of uncertainty raised by an inconclusive result, how they communicated the uncertainty involved, their feelings about presenting medical management options based on information fraught with uncertainty, the role of the media, differences in perspectives by specialty, and personal feelings about the uncertainty. Based on themes generated by the data, we proposed the concept "ownership of uncertainty" (sole, shared, diffused, normalized, transferred) to explain how the professionals in this study dealt with this high degree of uncertainty. A shared ownership of uncertainty was the dominant model during the presentation of information given by the professionals as part of their consultation with their patients. However, the final decision for management was left primarily to the woman seeking advice, even though several of the professionals reported feeling uneasy about this. The concept "ownership of uncertainty" helps advance the understanding of how the healthcare professionals deal with the uncertainty intrinsic to an inconclusive BRCA1/2 genetic test result within the current social context.
Full Text Available Water chestnut beetle (Galerucella birmanica Jacoby is a pest of the water chestnut (Trapa natans L.. To analyze the phylogeny and biogeography of the beetle and provide evidence for the origin of T. natans in China, we conducted this by using three mitochondrial genes (COI, COII and Cytb and nuclear ITS2 ribosomal DNA of G. birmanica. As for mtDNA genes, the beetle could be subdivided into three groups: northeastern China (NEC, central-northern-southern China (CC-NC-SC and southwestern China (SWC based on SAMOVA, phylogenetic analyses and haplotype networks. But for ITS2, no obvious lineages were obtained but individuals which were from NEC region clustered into one clade, which might be due to sequence conservation of ITS2. Significant genetic variation was observed among the three groups with infrequent gene flow between groups, which may have been restricted due to natural barriers and events in the Late Pleistocene. Based on our analyses of genetic variation in the CC-NC-SC geographical region, the star-like haplotype networks, approximate Bayesian computation, niche modelling and phylogeographic variation of the beetle, we concluded that the beetle population has been lasting in the lower, central reaches of the Yangtze River Basin with its host plant, water chestnut, which is consistent with archaeological records. Moreover, we speculate that the CC-NC-SC population of G. birmanica may have undergone a period of expansion coincident with domestication of the water chestnut approximately 113,900-126,500 years ago.
Wang, Dan; Hu, Yibo; Ma, Tianxiao; Nie, Yonggang; Xie, Yan; Wei, Fuwen
Understanding population size and genetic diversity is critical for effective conservation of endangered species. The Amur tiger (Panthera tigris altaica) is the largest felid and a flagship species for wildlife conservation. Due to habitat loss and human activities, available habitat and population size are continuously shrinking. However, little is known about the true population size and genetic diversity of wild tiger populations in China. In this study, we collected 55 fecal samples and 1 hair sample to investigate the population size and genetic diversity of wild Amur tigers in Hunchun National Nature Reserve, Jilin Province, China. From the samples, we determined that 23 fecal samples and 1 hair sample were from 7 Amur tigers: 2 males, 4 females and 1 individual of unknown sex. Interestingly, 2 fecal samples that were presumed to be from tigers were from Amur leopards, highlighting the significant advantages of noninvasive genetics over traditional methods in studying rare and elusive animals. Analyses from this sample suggested that the genetic diversity of wild Amur tigers is much lower than that of Bengal tigers, consistent with previous findings. Furthermore, the genetic diversity of this Hunchun population in China was lower than that of the adjoining subpopulation in southwest Primorye Russia, likely due to sampling bias. Considering the small population size and relatively low genetic diversity, it is urgent to protect this endangered local subpopulation in China. © 2015 International Society of Zoological Sciences, Institute of Zoology/Chinese Academy of Sciences and John Wiley & Sons Australia, Ltd.
Challen, K.; Harris, H.J.; Julian-Reynier, C.; ten Kate, L.P.; Kristoffersson, U.; Nippert, I.; Schmidtke, J.; Benjamin, C.; Harris, R
Purpose: Advances in and diffusion of genetic technology mean that nongeneticist health professionals have an increasing need to develop and maintain genetic competencies. This has been recognized by patient support groups and the European Commission. As the first phase of the GenEd (Genetic
Challen, K.; Harris, H.J.; Julian-Reynier, C.; Kate, L.P. ten; Kristoffersson, U.; Nippert, I.; Schmidtke, J.; Benjamin, C.; Harris, R
PURPOSE: Advances in and diffusion of genetic technology mean that nongeneticist health professionals have an increasing need to develop and maintain genetic competencies. This has been recognized by patient support groups and the European Commission. As the first phase of the GenEd (Genetic
Colihueque, Nelson; Araneda, Cristian
Appearance traits in fish, those external body characteristics that influence consumer acceptance at point of sale, have come to the forefront of commercial fish farming, as culture profitability is closely linked to management of these traits. Appearance traits comprise mainly body shape and skin pigmentation. Analysis of the genetic basis of these traits in different fish reveals significant genetic variation within populations, indicating potential for their genetic improvement. Work into ascertaining the minor or major genes underlying appearance traits for commercial fish is emerging, with substantial progress in model fish in terms of identifying genes that control body shape and skin colors. In this review, we describe research progress to date, especially with regard to commercial fish, and discuss genomic findings in model fish in order to better address the genetic basis of the traits. Given that appearance traits are important in commercial fish, the genomic information related to this issue promises to accelerate the selection process in coming years. PMID:25140172
Full Text Available Appearance traits in fish, those external body characteristics that influence consumer acceptance at point of sale, have come to the forefront of commercial fish farming, as culture profitability is closely linked to management of these traits. Appearance traits comprise mainly body shape and skin pigmentation. Analysis of the genetic basis of these traits in different fish reveals significant genetic variation within populations, indicating potential for their genetic improvement. Work into ascertaining the minor or major genes underlying appearance traits for commercial fish is emerging, with substantial progress in model fish in terms of identifying genes that control body shape and skin colors. In this review, we describe research progress to date, especially with regard to commercial fish, and discuss genomic findings in model fish in order to better address the genetic basis of the traits. Given that appearance traits are important in commercial fish, the genomic information related to this issue promises to accelerate the selection process in coming years.
... 15 Commerce and Foreign Trade 1 2010-01-01 2010-01-01 false Availability for counseling. 0.735-38... AND CONDUCT Administration § 0.735-38 Availability for counseling. (a) The General Counsel of the... part; and (3) Coordinate the counseling services provided under this part and assure that counseling...
Balkin, Richard S.; Richey Gosnell, Katelyn M.; Holmgren, Andrew; Osborne, Jason W.
Nonlinear effects are both underreported and underrepresented in counseling research. We provide a rationale for evaluating nonlinear effects and steps to evaluate nonlinear relationships in counseling research. Two heuristic examples are provided along with discussion of the results and advantages to evaluating nonlinear effects.
Full Text Available Teresa J Bryan,1,2 Carlos A Estrada,1,2 Analia Castiglioni,3 Erin D Snyder1,2 1University of Alabama at Birmingham, Birmingham, AL, USA; 2Birmingham Veterans Administration Medical Center, Birmingham, AL, USA; 3University of Central Florida College of Medicine, Orlando, FL, USA Background: Mammography screening for women under the age of 50 is controversial. Groups such as the US Preventive Services Task Force recommend counseling women 40–49 years of age about mammography risks and benefits in order to incorporate the individual patient's values in decisions regarding screening. We assessed the impact of a brief educational intervention on the knowledge and attitudes of clinicians regarding breast cancer screening. Methods: The educational intervention included a review of the risks and benefits of screening, individual risk assessment, and counseling methods. Sessions were led by a physician expert in breast cancer screening. Participants were physicians and nurses in 13 US Department of Veterans Affairs primary care clinics in Alabama. Outcomes were as follows: 1 knowledge assessment of mammogram screening recommendations; 2 counseling practices on the risks and benefits of screening; and 3 comfort level with counseling about screening. Outcomes were assessed by survey before and after the intervention. Results: After the intervention, significant changes in attitudes about breast cancer screening were seen. There was a decrease in the percentage of participants who reported that they would screen all women ages 40–49 years (82% before the intervention, 9% afterward. There was an increase in the percentage of participants who reported that they would wait until the patient was 50 years old before beginning to screen (12% before the intervention, 38% afterward. More participants (5% before, 53% after; P<0.001 said that they would discuss the patient's preferences. Attitudes favoring discussion of screening benefits increased, though not
Pieterse, A.H.; Dulmen, A.M. van; Beemer, F.A.; Ausems, M.G.E.M.; Bensing, J.
Objectives: To assess the influence of a 1-day individual video-feedback training for cancer genetic counselors on the interaction during initial visits. Feedback was intended to help counselors make counselees’ needs more explicit and increase counselors’ sensitivity to these. Methods: In total
Full Text Available Abstract Background We examine the uptake of HIV Testing and Counselling (HTC and linkage into care over one year of providing HTC through community and health facility testing modalities among people living in Kibera informal urban settlement in Nairobi Kenya. Methods We analyzed program data on health facility-based HIV testing and counselling and community- based testing and counselling approaches for the period starting October 2013 to September 2014. Univariate and bivariate analysis methods were used to compare the two approaches with regard to uptake of HTC and subsequent linkage to care. The exact Confidence Intervals (CI to the proportions were approximated using simple normal approximation to binomial distribution method. Results Majority of the 18,591 clients were tested through health facility-based testing approaches 72.5 % (n = 13485 vs those tested through community-based testing comprised 27.5 % (n = 5106. More clients tested at health facilities were reached through Provider Initiated Testing and Counselling PITC 81.7 % (n = 11015 while 18.3 % were reached through Voluntary Counselling and Testing (VCT/Client Initiated Testing and Counselling (CITC services. All clients who tested positive during health facility-based testing were successfully linked to care either at the project sites or sites of client choice while not all who tested positive during community based testing were linked to care. The HIV prevalence among all those who were tested for HIV in the program was 5.2 % (n = 52, 95 % CI: 3.9 %–6.8 %. Key study limitation included use of aggregate data to report uptake of HTC through the two testing approaches and not being able to estimate the population in the catchment area likely to test for HIV. Conclusion Health facility-based HTC approach achieved more clients tested for HIV, and this method also resulted in identifying greater numbers of people who were HIV positive in Kibera slum within
Magill, Damian J; Kucher, Phillip A; Krylov, Victor N; Pleteneva, Elena A; Quinn, John P; Kulakov, Leonid A
The Red Queen hypothesis posits that antagonistic co-evolution between interacting species results in recurrent natural selection via constant cycles of adaptation and counter-adaptation. Interactions such as these are at their most profound in host-parasite systems, with bacteria and their viruses providing the most intense of battlefields. Studies of bacteriophage evolution thus provide unparalleled insight into the remarkable elasticity of living entities. Here, we report a novel phenomenon underpinning the evolutionary trajectory of a group of dsDNA bacteriophages known as the phiKMVviruses. Employing deep next generation sequencing (NGS) analysis of nucleotide polymorphisms we discovered that this group of viruses generates enhanced intraspecies heterogeneity in their genomes. Our results show the localisation of variants to genes implicated in adsorption processes, as well as variation of the frequency and distribution of SNPs within and between members of the phiKMVviruses. We link error-prone DNA polymerase activity to the generation of variants. Critically, we show trans-activity of this phenomenon (the ability of a phiKMVvirus to dramatically increase genetic variability of a co-infecting phage), highlighting the potential of phages exhibiting such capabilities to influence the evolutionary path of other viruses on a global scale.
Mikat-Stevens, Natalie A; Larson, Ingrid A; Tarini, Beth A
We aimed to systematically review the literature to identify primary-care providers' perceived barriers against provision of genetics services. We systematically searched PubMed and ERIC using key and Boolean term combinations for articles published from 2001 to 2012 that met inclusion/exclusion criteria. Specific barriers were identified and aggregated into categories based on topic similarity. These categories were then grouped into themes. Of the 4,174 citations identified by the search, 38 publications met inclusion criteria. There were 311 unique barriers that were classified into 38 categories across 4 themes: knowledge and skills; ethical, legal, and social implications; health-care systems; and scientific evidence. Barriers most frequently mentioned by primary-care providers included a lack of knowledge about genetics and genetic risk assessment, concern for patient anxiety, a lack of access to genetics, and a lack of time. Although studies reported that primary-care providers perceive genetics as being important, barriers to the integration of genetics medicine into routine patient care were identified. The promotion of practical guidelines, point-of-care risk assessment tools, tailored educational tools, and other systems-level strategies will assist primary-care providers in providing genetics services for their patients.
Marilena C. D. V. Corrêa
Full Text Available A medicalização é um fenômeno social difuso nas sociedades ocidentais que se expressa segundo um diferencial de gênero. A gravidez é um momento fortemente medicalizado, no qual as mulheres se vêem cercadas de uma rede de vigilância de seu corpo, sendo responsabilizadas não só pela própria saúde, mas também pela produção de um feto saudável. O controle dos riscos no pré-natal é proposto, entretanto, em um contexto no qual as possibilidades diagnósticas são amplamente majoritárias comparativamente às possibilidades terapêuticas. Essa defasagem é agravada pelo fato de, no Brasil, o abortamento ser ilegal. Este artigo é fruto de pesquisa empírica realizada em um ambulatório público de genética pré-natal, que constou de: observação das práticas de atendimento, revisão de prontuários e realização de entrevistas com profissionais de saúde. Discutem-se o contexto fortemente medicalizado do aconselhamento genético no Brasil e a percepção dos médicos sobre suas práticas neste contexto. É discutido também o possível impacto sobre a tomada de decisão das mulheres atendidas em relação a riscos, técnicas, exames e seus desdobramentos.Medicalization is a highly visible and widespread social phenomenon in Western societies which is expressed differently according to gender. Pregnancy is heavily medicalized, and a surveillance network surrounds pregnant women, holding them accountable for both their own health and the production of a healthy fetus. Prenatal risk control is proposed in a context where diagnostic and therapeutic possibilities overlap. This problem is aggravated by the fact that abortion is illegal in Brazil. The current article is the result of research in a genetic counseling unit that consisted of: observation of consultations, review of patient files, and interviews with health professionals. The highly medicalized context of genetic counseling is discussed, as well as physicians' perception of
Full Text Available The association of specific genetic disturbances with the development of hereditary cancer helps us to understand the risk of suffering from it, the possibility of an earlier diagnosis, and the treatment and prevention of this disease. Familial adenomatous polyposis (FAP is a pre-neoplastic syndrome characterized by the presence of hundreds of adenomatous polyps in the colon, which develop into a carcinoma. FAP can be diagnosed using sequencing techniques to detect mutations in the germinal line of the APC (adenomatous polyposis coli gene. The genetic diagnostic approach in families with FAP, previously followed up in the Gastrointestinal Clinic, has both advantages and disadvantages, and places us nearer the disease and patient. Disclosing the results of this genetic test entails relevant problems in clinical practice, which affect the health field and raise legal and ethical issues, along with the familial, occupational, and social implications that knowing the genetic status can have on the patient. Genetic analysis is rare in normal clinical practice, which involves errors in the interpretation of the results obtained, and during the process of genetic counselling. Specialized multidisciplinary units are necessary for the management of patients with FAP undergoing analysis and appropriate genetic counselling, thus providing an individualized service. The creation of FAP registers and protocols for this healthcare process should optimize the management of these patients and their families.La asociación de determinadas alteraciones genéticas con la aparición de cáncer hereditario, nos permite conocer el riesgo de padecerlo, posibilitando el diagnóstico precoz, el tratamiento y la prevención de la enfermedad. La poliposis adenomatosa familiar (PAF es un síndrome preneoplásico que se caracteriza por la presencia de cientos de pólipos adenomatosos en colon, que evolucionarán hacia carcinoma. La PAF puede ser diagnosticada mediante t
Pryor, Robert G. L.
Theory in career development counselling provides a map that counsellors can use to understand and structure the career counselling process. It also provides a means to communicate this understanding and structuring to their clients as part of the counselling intervention. The chaos theory of careers draws attention to the complexity,…
Rose, E; Schreiber-Agus, N; Bajaj, K; Klugman, S; Goldwaser, T
The Jewish community has traditionally taken ownership of its health, and has taken great strides to raise awareness about genetic issues that affect the community, such as Tay-Sachs disease and Hereditary Breast and Ovarian Cancer syndrome. Thanks in part to these heightened awareness efforts, many Orthodox Jewish individuals are now using genetics services as they begin to plan their families. Due to unique cultural and religious beliefs and perceptions, the Orthodox Jewish patients who seek genetic counseling face many barriers to a successful counseling session, and often seek the guidance of programs such as the Program for Jewish Genetic Health (PJGH). In this article, we present clinical vignettes from the PJGH's clinical affiliate, the Reproductive Genetics practice at the Montefiore Medical Center. These cases highlight unique features of contemporary premarital counseling and screening within the Orthodox Jewish Community, including concerns surrounding stigma, disclosure, "marriageability," the use of reproductive technologies, and the desire to include a third party in decision making. Our vignettes demonstrate the importance of culturally-sensitive counseling. We provide strategies and points to consider when addressing the challenges of pre- and post-test counseling as it relates to genetic testing in this population.
Full Text Available Multicutural is a term used to describe one's view of the variety of life in the world, or cultural policy emphasizing their acceptance of diversity, and a wide range of cultures (multicultural that exist in society regarding values, system, culture, customs and politics that they profess. The effectiveness of counseling depends on many factors the most important is the relation to each other, and mutual understanding between counselor and client. Cultural differences that exist in this country requires the counselor needs to understand the different cultures that exist. Importance of multicultural for counselors as a form of consciousness that the counselor and client have cultural differences. Multicultural counseling a counseling relationship with the concept that there is a counselor with a client who has a cultural background, values and different lifestyles. Building a good relationship when the counseling process takes place so that the counselor can understand the culture of its clients one of the key attitudes that exist within konsleor is empathy. Counselors who have empathy will be able to understand the way the world through the perspective of the client.
Knowdell, Richard L.; And Others
This monographs discusses outplacement counseling (the process of helping a terminated employee secure new employment) in business and industry and in higher education. The first section, outplacement in business and industry, describes the emergence of outplacement services and discusses benefits and problems associated with the service. The…
Papalia, Anthony S.; Dai, Sheila
Rapid changes in technology and the economy have led to major staff reductions in the workplace, and have increased the need to assist displaced employees with outplacement counseling that is responsive, cost-effective, humane, and on-going. College counselors have the basic skills to effectively expand their role in this field in ways that…
Leong, Frederick T. L.
The current article provides an overview to the cultural accommodation model (CAM) of counseling (Leong & Lee, 2006) that may help guide employment counselors' work. The integrative multidimensional model of cross-cultural counseling (Leong, 1996), a precursor to the CAM, is also reviewed.
Piercy, Fred P.
The helping professions must aid parents in understanding their children and in providing parents with methods to improve family relationships. Adlerian counseling is presented as one potentially useful method of reaching this goal. The basic principles and democratic philosophy of Adlerian counseling are outlined, and emphasis is placed on the…
Thomason, Timothy C.; Qiong, Xiao
This article provides a brief overview of the development of psychological thinking in China and social influences on the practice of school counseling today. Common problems of students are described, including anxiety due to pressure to perform well on exams, loneliness and social discomfort, and video game addiction. Counseling approaches used…
Potrony, Miriam; Puig-Butillé, Joan Anton; Aguilera, Paula; Badenas, Celia; Carrera, Cristina; Malvehy, Josep; Puig, Susana
BACKGROUND CDKN2A is the major high-risk susceptibility gene for melanoma. OBJECTIVE To evaluate the effect of CDKN2A mutations in high-risk Spanish melanoma patients and the association with clinical and family history features. METHODS A cross-sectional study design was used to analyze the CDKN2A impact in 702 Spanish patients with a high-risk of developing melanoma. RESULTS The CDKN2A mutation prevalence was 8.5% in sporadic multiple primary melanoma patients and 14.1% in familial melanoma. Number of cases in the family, number of primary melanomas and age of onset were associated with the presence of CDKN2A mutation. Having a CDKN2A mutation in the family increased the prevalence of other cancers (PR=2.99, p=0.012), pancreatic (PR=2.97, p=0.006), lung (PR=3.04, pMelanoma-prone families with mutations in CDKN2A have an increased prevalence of a broad spectrum of cancers including lung, pancreatic and breast cancer. This information should be included in genetic counseling and cancer prevention programs for CDKN2A mutation carriers. PMID:25064638
Full Text Available Noonan syndrome (NS is an autosomal dominant disorder, characterized by variable expressivity of clinical features such as: postnatal growth reduction, congenital heart disease, characteristic facial dysmorphisms and development delay. In ~75% of all NS cases, germline mutations involving RAS-MAPK signaling pathway genes (PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF, SHOC2, MEK1, CBL are causative. We reported a case of 13-year-old girl [born at 36w by CS (BW 3250 g (~95°, BL 48 cm (~75°] referred for genetic counseling due to growth retardation, facial dysmorphisms, development delay and learning disability. After birth she presented frequent vomiting, with failure to thrive and at 5 months of age underwent surgery for intestinal malrotation. Because of short stature, Growth Hormone (GH therapy have been introduced at age of 3yrs up to 11yrs. Negative molecular testing for PTPN11 and SOS1 genes, normal female karyotype and aCGH analysis were observed. Objective examination: H 138 cm, (A; p.Val14Ile has been identified. Even though KRAS mutations are usually associated with NS severe phenotype with cardiac involvement (hypertrophic cardiomyopathy, this finding is not present in our patient.
Full Text Available The purpose of writing this article is to describe the subject of study and reason as well as research-based counseling service management. Counseling services based on research carried out to improve the quality of learning through counseling. The discussion of this article are (1 the background of the counseling service based research, (2 understanding the tasks and activities of counseling teacher or counselor, (3 reason for the existence of counseling in education, (4 the differences and similarities counseling services with research PTK-BK, (5 the motivations and goals of research-based counseling services, and (6 management of research-based counseling services. Among the benefits of this article is to (1 raise awareness counseling teacher or counselor about the importance of developing a counseling service that is integrated with the research, (2 develop a research culture for counseling teacher/ counselor, (3 encourage educational institutions both school/ madrasah/ pesantren for developing research-based counseling services, (4 encourage universities that provide education academic and professional counseling to develop research activities and community service through mentoring research-based counseling services. Keywords: counseling services, research, quality of learning, PTK-BK.
Eigen, Manfred; Lindemann, Bjorn F.; Tietze, Manfred; Winkler-Oswatitsch, Ruthild; Dress, Andreas; von Haeseler, Arndt
The age of the molecular organization of life as expressed in the genetic code can be estimated from experimental data. Comparative sequence analysis of transfer RNA by the method of statistical geometry in sequence space suggests that about one-third of the present transfer RNA sequence divergence was present at the urkingdom level about the time when archaebacteria separated from eubacteria. It is concluded that the genetic code is not older than, but almost as old as our planet. While this result may not be unexpected, it was not clear until now that interpretable data exist that permit inferences about such early stages of life as the establishment of the genetic code.
Full Text Available A method in population genetics (Dutech et al., Am. J. Bot. 92 (2, 252-261, February 2005 is described and discussed as an interesting tool for investigating the effects of fragmentation in forest ecosystems.
Sun, Hao; Zhou, Chi; Huang, Xiaoqin; Lin, Keqin; Shi, Lei; Yu, Liang; Liu, Shuyuan; Chu, Jiayou; Yang, Zhaoqing
Tai people are widely distributed in Thailand, Laos and southwestern China and are a large population of Southeast Asia. Although most anthropologists and historians agree that modern Tai people are from southwestern China and northern Thailand, the place from which they historically migrated remains controversial. Three popular hypotheses have been proposed: northern origin hypothesis, southern origin hypothesis or an indigenous origin. We compared the genetic relationships between the Tai in China and their "siblings" to test different hypotheses by analyzing 10 autosomal microsatellites. The genetic data of 916 samples from 19 populations were analyzed in this survey. The autosomal STR data from 15 of the 19 populations came from our previous study (Lin et al., 2010). 194 samples from four additional populations were genotyped in this study: Han (Yunnan), Dai (Dehong), Dai (Yuxi) and Mongolian. The results of genetic distance comparisons, genetic structure analyses and admixture analyses all indicate that populations from northern origin hypothesis have large genetic distances and are clearly differentiated from the Tai. The simulation-based ABC analysis also indicates this. The posterior probability of the northern origin hypothesis is just 0.04 [95%CI: (0.01-0.06)]. Conversely, genetic relationships were very close between the Tai and populations from southern origin or an indigenous origin hypothesis. Simulation-based ABC analyses were also used to distinguish the southern origin hypothesis from the indigenous origin hypothesis. The results indicate that the posterior probability of the southern origin hypothesis [0.640, 95%CI: (0.524-0.757)] is greater than that of the indigenous origin hypothesis [0.324, 95%CI: (0.211-0.438)]. Therefore, we propose that the genetic evidence does not support the hypothesis of northern origin. Our genetic data indicate that the southern origin hypothesis has higher probability than the other two hypotheses statistically
Full Text Available Tai people are widely distributed in Thailand, Laos and southwestern China and are a large population of Southeast Asia. Although most anthropologists and historians agree that modern Tai people are from southwestern China and northern Thailand, the place from which they historically migrated remains controversial. Three popular hypotheses have been proposed: northern origin hypothesis, southern origin hypothesis or an indigenous origin. We compared the genetic relationships between the Tai in China and their "siblings" to test different hypotheses by analyzing 10 autosomal microsatellites. The genetic data of 916 samples from 19 populations were analyzed in this survey. The autosomal STR data from 15 of the 19 populations came from our previous study (Lin et al., 2010. 194 samples from four additional populations were genotyped in this study: Han (Yunnan, Dai (Dehong, Dai (Yuxi and Mongolian. The results of genetic distance comparisons, genetic structure analyses and admixture analyses all indicate that populations from northern origin hypothesis have large genetic distances and are clearly differentiated from the Tai. The simulation-based ABC analysis also indicates this. The posterior probability of the northern origin hypothesis is just 0.04 [95%CI: (0.01-0.06]. Conversely, genetic relationships were very close between the Tai and populations from southern origin or an indigenous origin hypothesis. Simulation-based ABC analyses were also used to distinguish the southern origin hypothesis from the indigenous origin hypothesis. The results indicate that the posterior probability of the southern origin hypothesis [0.640, 95%CI: (0.524-0.757] is greater than that of the indigenous origin hypothesis [0.324, 95%CI: (0.211-0.438]. Therefore, we propose that the genetic evidence does not support the hypothesis of northern origin. Our genetic data indicate that the southern origin hypothesis has higher probability than the other two hypotheses
Following bachelor's thesis is devoted to methodological aspects of the career counseling. It deals with the terminological discussion of counseling-related concepts and its areas of application in the context of adult education. The thesis is focused on a counseling process, structure, tools and specifics in career counseling. It provides an analysis of wide range of counseling tools from basic counseling techniques to specific digital and complex means. Practical implementation of the tools...
Klemenc-Ketis, Zalika; Peterlin, Borut
Management of patients with genetic problems, including provision of genetic testing, is increasingly becoming a part of primary health care. The aim of this study was to determine the family physicians' (FPs) self-perceived importance of providing genetic test information to their patients. This was an observational cross-sectional postal study in the whole population of Slovenian family physicians (N=950). Its main outcome measure was the perceived importance of providing genetic test information on each of 10 items on a 5-point Likert scale. There were 271 (27.1% response rate) FPs that completed the questionnaire, out of which 205 (75.6%) were women. Mean age of the sample was 45.5 ± 10.6 years. More than 90% of Slovene FPs felt that it was their professional duty to discuss genetic testing issues with their patients. They were particularly prone to discuss clinical implications of positive and negative test results, as well as giving the patients information about the risk of passing a mutation onto children. Most Slovene family physicians feel responsible and willing to offer and discuss genetic testing and implications with their patients. Additional education should be provided to empower them for this task.
... 24 Housing and Urban Development 2 2010-04-01 2010-04-01 false Counseling. 206.41 Section 206.41... CONVERSION MORTGAGE INSURANCE Eligibility; Endorsement Eligible Mortgagors § 206.41 Counseling. (a) List... receive counseling. (b) Information to be provided. A counselor must discuss with the mortgagor: (1) The...
Guo, Yuh-Jen; Wang, Shu-Ching; Combs, Don C.; Lin, Yi-Chun; Johnson, Veronica
Because of the recent introduction of a licensure law, professional counseling has grown rapidly in Taiwan after decades of slow development. The authors provide a historical review of the development of professional counseling in Taiwan and discuss the current status and future trajectory of professional counseling in Taiwan.
Psychological counselling relates to basic humanity and universal values such as the regard for human dignity, healthy socialisation, and emotional health. Counselling individuals who experience emotional or relational problems is a function of the helping and health care professions. Effective counselling should provide ...
Providing effective career counseling to culturally diverse individuals is not the same as helping those from majority cultures. The Career Counseling With Underserved Populations model aids career counselors in supporting underserved populations as they strive to address their important career counseling issues.
Samal, Areejit; Martin, Olivier C.
Analytic and computational methods developed within statistical physics have found applications in numerous disciplines. In this Letter, we use such methods to solve a long-standing problem in statistical genetics. The problem, posed by Haldane and Waddington [Genetics 16, 357 (1931)], concerns so-called recombinant inbred lines (RILs) produced by repeated inbreeding. Haldane and Waddington derived the probabilities of RILs when considering two and three genes but the case of four or more genes has remained elusive. Our solution uses two probabilistic frameworks relatively unknown outside of physics: Glauber's formula and self-consistent equations of the Schwinger-Dyson type. Surprisingly, this combination of statistical formalisms unveils the exact probabilities of RILs for any number of genes. Extensions of the framework may have applications in population genetics and beyond.
EL CONSEJO GENÉTICO DESDE UNA PERSPECTIVA BIOÉTICA PERSONALISTA O ACONSELHAMENTO GENÉTICO A PARTIR DE UMA PERSPECTIVA DA BIOÉTICA PERSONALISTA GENETIC COUNSELING THROUGH A PERSONALIZED BIOETHICS PERSPECTIVE
Alejandra Gajardo Ugás
Full Text Available Las enfermedades de origen genético causan en la actualidad cerca de un 34% de los decesos en los menores de un año. El conocimiento obtenido desde el inicio del Proyecto Genoma Humano ha facilitado herramientas sobre cómo prevenirlas y curarlas. Entre aquéllas se incluye el consejo genético, que debe proporcionar las bases para una decisión informada sobre la gestación de un niño. Estas nuevas tecnologías imponen situaciones éticas cada vez más complejas y cotidianas. ¿Qué hacer con la información que se obtiene? ¿Puede usarse para curar enfermedades genéticas? ¿Cómo promover y cautelar el empleo ético de esta información? En este artículo se presentan las bases del consejo genético y sus implicancias éticas desde una perspectiva personalistaAs enfermidades de origem genética causam na atualidade cerca de 34% de mortes em menos de um ano. O conhecimento obtido desde o início do Projeto Genoma Humano, nos forneceu ferramentas a respeito de como preveni-las e curá-las. Entres outras se inclui o aconselhamento genético, que deve fornecer as bases para uma decisão informada a respeito da gestação de um bebê. Estas novas tecnologias trazem situações éticas cada vez mais complexas e corriqueiras. O que fazer com a informação que se obtêm? Pode-se usar para curar enfermidades genéticas? Como promover e com cuidado e cautela a respeito da utilização ética desta informação. Neste artigo são apresentadas as bases do Aconselhamento Genético e suas implicações éticas a partir de uma perspectiva personalistaDiseases of genetic origin presently cause around 34% of the deaths of minors under a year old. The knowledge obtained since the Human Genome Project begun has provided tools for prevention and cure. Among them genetic counseling is included, which must provide the basis for an informed decision over child gestation. These new technologies imply more and more usual and complex ethical issues. What to do
Yi, Shuhua; Li, Zengjun; Zou, Dehui; An, Gang; Cui, Rui; Zhong, Shizhen; Li, Heng; Xiong, Wenjie; Li, Chenwen; Chen, Weiwei; Liu, Wei; Lv, Rui; Yu, Zhen; Wang, Huijun; Xu, Yan; Zhou, Keshu; Ru, Kun; Wang, Jianxiang; Cheng, Tao; Qiu, Lugui
Chronic lymphocytic leukemia (CLL) is a heterogeneous disease with cytogenetic aberrations that are still considered the gold standard of prognostic factors. However, heterogeneity remains within each cytogenetic group, especially in patients with concomitant cytogenetic aberrations. A panel of DNA probes was used to detect cytogenetic aberrations, including RB1/D13S25 at 13q14, ATM at 11q22, TP53 at 17p13, CEP12 and IGH translocation at 14q32, by fluorescence in situ hybridization. A comprehensive method integrating the number of cytogenetic aberrations and intratumoral genetic heterogeneity was used to analyze the prognosis for patients with concomitant aberrations. Within the conventional favorable or neutral prognostic groups (i.e., with del 13q, trisomy 12, and/or t(14q32)), the coincidence of these three aberrations worsened survival in terms of time to first therapy, progression-free survival, and overall survival. However, within the conventional unfavorable prognostic group (i.e., del 11q or del 17p), patients with a minor unfavorable clone had an unexpected survival advantage compared with patients with a major unfavorable clone. A new cytogenetic prognostic system that integrates the number of cytogenetic aberrations and intratumoral genetic subclones was more precise than the conventional system. The number of cytogenetic aberrations and the size of intratumoral genetic subclones should be comprehensively considered to determine the prognosis for CLL.Genet Med 19 2, 182-191.
Makransky, Guido; Bonde, Mads T; Wulff, Julie S G; Wandall, Jakob; Hood, Michelle; Creed, Peter A; Bache, Iben; Silahtaroglu, Asli; Nørremølle, Anne
Simulation based learning environments are designed to improve the quality of medical education by allowing students to interact with patients, diagnostic laboratory procedures, and patient data in a virtual environment. However, few studies have evaluated whether simulation based learning environments increase students' knowledge, intrinsic motivation, and self-efficacy, and help them generalize from laboratory analyses to clinical practice and health decision-making. An entire class of 300 University of Copenhagen first-year undergraduate students, most with a major in medicine, received a 2-h training session in a simulation based learning environment. The main outcomes were pre- to post- changes in knowledge, intrinsic motivation, and self-efficacy, together with post-intervention evaluation of the effect of the simulation on student understanding of everyday clinical practice were demonstrated. Knowledge (Cohen's d = 0.73), intrinsic motivation (d = 0.24), and self-efficacy (d = 0.46) significantly increased from the pre- to post-test. Low knowledge students showed the greatest increases in knowledge (d = 3.35) and self-efficacy (d = 0.61), but a non-significant increase in intrinsic motivation (d = 0.22). The medium and high knowledge students showed significant increases in knowledge (d = 1.45 and 0.36, respectively), motivation (d = 0.22 and 0.31), and self-efficacy (d = 0.36 and 0.52, respectively). Additionally, 90 % of students reported a greater understanding of medical genetics, 82 % thought that medical genetics was more interesting, 93 % indicated that they were more interested and motivated, and had gained confidence by having experienced working on a case story that resembled the real working situation of a doctor, and 78 % indicated that they would feel more confident counseling a patient after the simulation. The simulation based learning environment increased students' learning, intrinsic motivation, and
This book provides a conceptual understanding of the biology of genes and also gives current events and controversies in the field. Basic transmission genetics, molecular genetics, and population genetics are covered, with additional discussions relating to such topics as agriculture, aging, forensic science, genetic counseling, gene splicing, and recombinant DNA. Low level radiation and its effects, drugs and heredity, IQ, heredity and racial variation, and creationism versus evolution are also described. ''Billboard'' style diagrams visually explain important concepts. Boldfaced key terms are defined within the text and in a comprehensive glossary. Selected readings, discussion questions and problems, and excellent chapter summaries further aid study.
Department of Housing and Urban Development — HUD sponsors housing counseling agencies throughout the country that can provide advice on buying a home, renting, defaults, foreclosures, and credit issues. This...
Full Text Available Abstract Background Metabolic syndrome, a constellation of metabolic risk factors for type 2 diabetes and cardiovascular disease, is one of the fastest growing disease entities in the world. Weight loss is thought to be a key to improving all aspects of metabolic syndrome. Research studies have suggested benefits from diets rich in vegetables and fruits in helping individuals reach and achieve healthy weights. Objective To evaluate the effects of a ready to serve vegetable juice as part of a calorie-appropriate Dietary Approaches to Stop Hypertension (DASH diet in an ethnically diverse population of people with Metabolic Syndrome on weight loss and their ability to meet vegetable intake recommendations, and on their clinical characteristics of metabolic syndrome (waist circumference, triglycerides, HDL, fasting blood glucose and blood pressure. A secondary goal was to examine the impact of the vegetable juice on associated parameters, including leptin, vascular adhesion markers, and markers of the oxidative defense system and of oxidative stress. Methods A prospective 12 week, 3 group (0, 8, or 16 fluid ounces of low sodium vegetable juice parallel arm randomized controlled trial. Participants were requested to limit their calorie intake to 1600 kcals for women and 1800 kcals for men and were educated on the DASH diet. A total of 81 (22 men & 59 women participants with Metabolic Syndrome were enrolled into the study. Dietary nutrient and vegetable intake, weight, height, leptin, metabolic syndrome clinical characteristics and related markers of endothelial and cardiovascular health were measured at baseline, 6-, and 12-weeks. Results There were significant group by time interactions when aggregating both groups consuming vegetable juice (8 or 16 fluid ounces daily. Those consuming juice lost more weight, consumed more Vitamin C, potassium, and dietary vegetables than individuals who were in the group that only received diet counseling (p
Gemzell-Danielsson, Kristina; Cho, SiHyun; Inki, Pirjo; Mansour, Diana; Reid, Robert; Bahamondes, Luis
This study was conducted to determine the personal choices of contraceptive methods among an international sample of contraception health care professionals (HCPs) and to determine if these choices are concordant with their recommendations to women. In an anonymous online survey, 1001 HCPs actively involved in contraceptive counseling [obstetrician/gynecologists (OB/GYNs), general practitioners (GPs) and midwives (only in Sweden)] from 10 countries (Australia, Brazil, Canada, France, Germany, Korea, Mexico, Spain, Sweden and the United Kingdom) were asked about their personal use of contraceptive methods and their recommendations to women in two different clinical scenarios: for spacing between children (Group A) and after completion of the family (Group B). The largest HCP group was OB/GYNs (67.1%), followed by GPs (31.4%) and midwives (1.5%). A total of 42.7% of respondents were male, and 57.3% were female. The majority of respondents were aged 36-45 years (38.9%) or 46-55 years (42.8%), 79.7% had children, and 53.9% were currently using contraception (by themselves or by their partners). Among 540 contraceptive users, the three most common methods were the levonorgestrel-releasing intrauterine system (LNG-IUS; 29.3%), combined oral contraceptives (COCs; 20.0%) and condoms (17.0%). OB/GYNs were more likely to be using the LNG-IUS than GPs (p=.014). Gender did not seem to influence contraceptive preference. Reasons for these choices were largely influenced by family situation and high contraceptive efficacy (for the LNG-IUS) or side effects caused by other methods (for condoms). The top contraceptive recommendation was COCs for Group A and the LNG-IUS for Group B. HCPs currently using COCs and the LNG-IUS were more likely to recommend these methods than other contraceptive methods for Group A and Group B, respectively. The most popular contraceptive method in this sample of HCPs was the LNG-IUS. Choice of contraceptive method was driven by family situation, age
Shenoy, Sonia F; Poston, Walker Sc; Reeves, Rebecca S; Kazaks, Alexandra G; Holt, Roberta R; Keen, Carl L; Chen, Hsin Ju; Haddock, C Keith; Winters, Barbara L; Khoo, Chor San H; Foreyt, John P
Metabolic syndrome, a constellation of metabolic risk factors for type 2 diabetes and cardiovascular disease, is one of the fastest growing disease entities in the world. Weight loss is thought to be a key to improving all aspects of metabolic syndrome. Research studies have suggested benefits from diets rich in vegetables and fruits in helping individuals reach and achieve healthy weights. To evaluate the effects of a ready to serve vegetable juice as part of a calorie-appropriate Dietary Approaches to Stop Hypertension (DASH) diet in an ethnically diverse population of people with Metabolic Syndrome on weight loss and their ability to meet vegetable intake recommendations, and on their clinical characteristics of metabolic syndrome (waist circumference, triglycerides, HDL, fasting blood glucose and blood pressure).A secondary goal was to examine the impact of the vegetable juice on associated parameters, including leptin, vascular adhesion markers, and markers of the oxidative defense system and of oxidative stress. A prospective 12 week, 3 group (0, 8, or 16 fluid ounces of low sodium vegetable juice) parallel arm randomized controlled trial. Participants were requested to limit their calorie intake to 1600 kcals for women and 1800 kcals for men and were educated on the DASH diet. A total of 81 (22 men & 59 women) participants with Metabolic Syndrome were enrolled into the study. Dietary nutrient and vegetable intake, weight, height, leptin, metabolic syndrome clinical characteristics and related markers of endothelial and cardiovascular health were measured at baseline, 6-, and 12-weeks. There were significant group by time interactions when aggregating both groups consuming vegetable juice (8 or 16 fluid ounces daily). Those consuming juice lost more weight, consumed more Vitamin C, potassium, and dietary vegetables than individuals who were in the group that only received diet counseling (p < 0.05). The incorporation of vegetable juice into the daily diet can
Urbany, Claude; Stich, Benjamin; Schmidt, Lysann; Simon, Ludwig; Berding, Hergen; Junghans, Holger; Niehoff, Karl-Heinz; Braun, Alexander; Tacke, Eckhard; Hofferbert, Hans-Rheinhardt; Lübeck, Jens; Strahwald, Josef; Gebhardt, Christiane
Most agronomic plant traits result from complex molecular networks involving multiple genes and from environmental factors. One such trait is the enzymatic discoloration of fruit and tuber tissues initiated by mechanical impact (bruising). Tuber susceptibility to bruising is a complex trait of the cultivated potato (Solanum tuberosum) that is crucial for crop quality. As phenotypic evaluation of bruising is cumbersome, the application of diagnostic molecular markers would empower the selection of low bruising potato varieties. The genetic factors and molecular networks underlying enzymatic tissue discoloration are sparsely known. Hitherto there is no association study dealing with tuber bruising and diagnostic markers for enzymatic discoloration are rare. The natural genetic diversity for bruising susceptibility was evaluated in elite middle European potato germplasm in order to elucidate its molecular basis. Association genetics using a candidate gene approach identified allelic variants in genes that function in tuber bruising and enzymatic browning. Two hundred and five tetraploid potato varieties and breeding clones related by descent were evaluated for two years in six environments for tuber bruising susceptibility, specific gravity, yield, shape and plant maturity. Correlations were found between different traits. In total 362 polymorphic DNA fragments, derived from 33 candidate genes and 29 SSR loci, were scored in the population and tested for association with the traits using a mixed model approach, which takes into account population structure and kinship. Twenty one highly significant (p enzymatic tissue discoloration and tuber bruising. Their validation and characterization will increase the knowledge about the underlying biological processes.
Bektas, Dilek Yelda
In the present study, the current status of international students and counselling services provided at Turkish universities is addressed. Firstly, a brief history of counselling and counselling services in Turkish universities is examined, leading to a consideration of the current status of international students and counselling services.…
Johnson, Teresa R; Rangel, David; Graham, Barney S; Brough, Douglas E; Gall, Jason G
Respiratory syncytial virus (RSV) is a major cause of infectious lower respiratory disease in infants and the elderly. As there is no vaccine for RSV, we developed a genetic vaccine approach that induced protection of the entire respiratory tract from a single parenteral administration. The approach was based on adenovirus vectors derived from newly isolated nonhuman primate viruses with low seroprevalence. We show for the first time that a single intramuscular (IM) injection of the replication-deficient adenovirus vectors expressing the RSV fusion (F0) glycoprotein induced immune responses that protected both the lungs and noses of cotton rats and mice even at low doses and for several months postimmunization. The immune response included high titers of neutralizing antibody that were maintained ≥ 24 weeks and RSV-specific CD8+ and CD4+ T cells. The vectors were as potently immunogenic as a human adenovirus 5 vector in these two key respiratory pathogen animal models. Importantly, there was minimal alveolitis and granulocytic infiltrates in the lung, and type 2 cytokines were not produced after RSV challenge even under conditions of partial protection. Overall, this genetic vaccine is highly effective without potentiating immunopathology, and the results support development of the vaccine candidate for human testing.
Zhang, Ye; Li, Jiawei; Zhao, Yongbin; Wu, Xiyan; Li, Hongjie; Yao, Lu; Zhu, Hong; Zhou, Hui
The West Liao River Valley and the Yellow River Valley are recognized Neolithic farming centers in North China. The population dynamics between these two centers have significantly contributed to the present-day genetic patterns and the agricultural advances of North China. To understand the Neolithic farming expansions between the West Liao River Valley and the Yellow River Valley, we analyzed mitochondrial DNA (mtDNA) and the Y chromosome of 48 individuals from two archeological sites, Jiangjialiang (>3000 BC) and Sanguan (~1500 BC). These two sites are situated between the two farming centers and experienced a subsistence shift from hunting to farming. We did not find a significant difference in the mtDNA, but their genetic variations in the Y chromosome were different. Individuals from the Jiangjialiang belonged to two Y haplogroups, N1 (not N1a or N1c) and N1c. The individuals from the Sanguan are Y haplogroup O3. Two stages of migration are supported. Populations from the West Liao River Valley spread south at about 3000 BC, and a second northward expansion from the Yellow River Valley occurred later (3000-1500 BC).
Yoo, Jin Eun; Moon, Sidney M.
The purpose of this study was to investigate perceptions of the counseling needs of gifted children from the perspective of parents who sought help from a fee-based counseling center for gifted students. The counseling center provided assessment and educational and career guidance, as well as family social/emotional counseling, all of which were…
Ilagan, Guy; Vinson, Mike; Sharp, Julia L.; Havice, Pamela; Ilagan, Jill
Investigators compared counseling outcomes among nonpaid graduate-level trainees and professional staff at a college counseling center. Counseling outcomes for 331 college student participants were measured using the Outcome Questionnaire 45.2 (OQ45.2), employing a pretest--posttest design. The two groups of service providers did not differ…
Béres, Beatrix; Kánainé Sipos, Dóra; Müller, Tamás; Staszny, Ádám; Farkas, Milán; Bakos, Katalin; Urbányi, Béla
Since three bullhead catfish species were introduced to Europe in the late 19th century, they have spread to most European countries. In Hungary, the brown bullhead (Ameiurus nebulosus) was more widespread in the 1970s–1980s, but the black bullhead (Ameiurus melas) has gradually supplanted since their second introduction in 1980. The introgressive hybridization of the two species has been presumed based on morphological examinations, but it has not previously been supported by genetic evidence. In this study, 11 different Hungarian habitats were screened with a new species-specific nuclear genetic, duplex PCR based, marker system to distinguish the introduced catfish species, Ameiurus nebulosus, Ameiurus melas, and Ameiurus natalis, as well as the hybrids of the first two. More than 460 specimens were analyzed using the above markers and additional mitochondrial sequence analyses were also conducted on >25% of the individuals from each habitat sampled. The results showed that only 7.9% of the specimens from two habitats belonged to Ameiurus nebulosus, and 92.1% were classified as Ameiurus melas of all habitats, whereas the presence of Ameiurus natalis was not detected. Two specimens (>0.4%) showed the presence of both nuclear genomes and they were identified as hybrids of Ameiurus melas and Ameiurus nebulosus. An additional two individuals showed contradicting results from the nuclear and mitochondrial assays as a sign of a possible footprint of introgressive hybridization that might have happened two or more generations before. Surprisingly, the level of hybridization was much smaller than expected based on the analyses of the North American continent’s indigenous stock from the hybrid zones. This phenomenon has been observed in several invasive fish species and it is regarded as an added level of complexity in the management of their rapid adaptation. PMID:28265489
The General Counsel`s office provides legal counsel to all levels of WHC management; administers the intellectual property program; coordinates all WHC investigative activity and supports WHC activities to ensure compliance with all applicable federal, state, and local laws, DOE directives, contractual provisions, and other requirements. In so doing, the Office of General Counsel supports the Hanford site mission of transforming the Hanford site into an environmentally attractive and economically sustainable community. This document briefs the FY95 site support plan.
Byrne, J. Stephen; Shufelt, Brett
The present study explored the use of counseling among counselor trainees and the characteristics of consumers and nonconsumers. Approximately 61% of those surveyed (n = 85) reported that they had received counseling, with the majority being mental health counseling trainees. Nonconsumers (n = 54) indicated that they coped with problems in other…
Full Text Available This communication from the National Indian Patient-centered Thyroid Management group provides a useful tool to help in medication counseling during hypothyroidism management. The authors classify and list aspects of thyroxine use which must be discussed with patients on thyroxine supplementation or replacement. Issues related to concomitant food and medications intake, preconception and pregnancy management, as well as sick day care, are also discussed.
Vernon, McCay; Hicks, Wanda
Group counseling for secondary students with Usher's syndrome, a genetic condition resulting in hearing impairment at birth and gradual loss of vision, was intended to provide information and opportunities for expression. Results included practical changes in school environment, increased information about deaf-blindness for the students, and help…
Liu, Tina; Patek, Kyla; Schneider, Kami Wolfe
In an effort to increase the diversity of the membership of the National Society of Genetic Counselors (NSGC), the Membership Committee provided two $500 scholarships to genetic counseling students planning to attend the NSGC AEC meeting in Dallas, Texas in October 2010. Requirements for applicants of both scholarships included enrollment in the fall of 2010, good standing at an accredited genetic counseling training program, and NSGC membership or plans to join in 2011. Students who are from communities underrepresented in the NSGC, including, but not limited to, those of minority cultural/ethnic backgrounds and those with disabilities were eligible to apply for the "Diversity" scholarship. Students from all backgrounds who have an interest in diversity issues were eligible to apply for the "General" scholarship. Applicants wrote essays 1000 words or less answering the following questions: How has your identity as a member of a group underrepresented in the genetic counseling profession affected your pursuit of this career? What do you feel is lacking in genetic counseling to address the issues of underrepresented groups? What strategies do you recommend for addressing these issues and/or increasing diversity? Why do you think diversity is an important issue for the field of genetic counseling? What strategies do you recommend to attract and retain students, especially those from underrepresented populations, into the field of genetic counseling? How do you envision contributing to these strategies? The essays by the award recipients elucidated interesting perspectives and ideas for increasing diversity in the genetic counseling profession.
Full Text Available Linkage maps are widely used to investigate structure, function, and evolution of genomes. In speciation research, maps facilitate the study of the genetic architecture of reproductive isolation by allowing identification of genomic regions underlying reduced fitness of hybrids. Here we present a linkage map for European newts of the Lissotriton vulgaris species complex, constructed using two families of F2 L. montandoni × L. vulgaris hybrids. The map consists of 1146 protein-coding genes on 12 linkage groups, equal to the haploid chromosome number, with a total length of 1484 cM (1.29 cM per marker. It is notably shorter than two other maps available for salamanders, but the differences in map length are consistent with cytogenetic estimates of the number of chiasmata per chromosomal arm. Thus, large salamander genomes do not necessarily translate into long linkage maps, as previously suggested. Consequently, salamanders are an excellent model to study evolutionary consequences of recombination rate variation in taxa with large genomes and a similar number of chromosomes. A complex pattern of transmission ratio distortion (TRD was detected: TRD occurred mostly in one family, in one breeding season, and was clustered in two genomic segments. This is consistent with environment-dependent mortality of individuals carrying L. montandoni alleles in these two segments and suggests a role of TRD blocks in reproductive isolation. The reported linkage map will empower studies on the genomic architecture of divergence and interactions between the genomes of hybridizing newts.
Full Text Available Abstract Background The various steps of mRNP biogenesis (transcription, processing and export are interconnected. It has been shown that the transcription machinery plays a pivotal role in mRNP assembly, since several mRNA export factors are recruited during transcription and physically interact with components of the transcription machinery. Although the shuttling DEAD-box protein Dbp5p is concentrated on the cytoplasmic fibrils of the NPC, previous studies demonstrated that it interacts physically and genetically with factors involved in transcription initiation. Results We investigated the effect of mutations affecting various components of the transcription initiation apparatus on the phenotypes of mRNA export mutant strains. Our results show that growth and mRNA export defects of dbp5 and mex67 mutant strains can be suppressed by mutation of specific transcription initiation components, but suppression was not observed for mutants acting in the very first steps of the pre-initiation complex (PIC formation. Conclusions Our results indicate that mere reduction in the amount of mRNP produced is not sufficient to suppress the defects caused by a defective mRNA export factor. Suppression occurs only with mutants affecting events within a narrow window of the mRNP biogenesis process. We propose that reducing the speed with which transcription converts from initiation and promoter clearance to elongation may have a positive effect on mRNP formation by permitting more effective recruitment of partially-functional mRNP proteins to the nascent mRNP.
Bantjes, Jason; Kagee, Ashraf; Young, Charles
The origin and development of counselling psychology in South Africa has been profoundly influenced by the country's socio-political history and the impact of apartheid. As a result of this, counselling psychologists in the country face a number of challenges and opportunities for the future. In this paper we provide a portrait of counselling psychology in South Africa by describing the current character of the specialty and the context in which South African psychologists work. We critically discuss the challenges that the specialty faces to meet the country's mental health care needs, contest the current Scope of Practice; affirm multiculturalism without essentializing or reifying race and ethnicity, and build an evidence base for community interventions in the country. We also consider how, in the future, counselling psychologists in South Africa may make a more meaningful contribution within public health and the country's health care and education systems.
Bantjes, Jason; Kagee, Ashraf; Young, Charles
The origin and development of counselling psychology in South Africa has been profoundly influenced by the country’s socio-political history and the impact of apartheid. As a result of this, counselling psychologists in the country face a number of challenges and opportunities for the future. In this paper we provide a portrait of counselling psychology in South Africa by describing the current character of the specialty and the context in which South African psychologists work. We critically discuss the challenges that the specialty faces to meet the country’s mental health care needs, contest the current Scope of Practice; affirm multiculturalism without essentializing or reifying race and ethnicity, and build an evidence base for community interventions in the country. We also consider how, in the future, counselling psychologists in South Africa may make a more meaningful contribution within public health and the country’s health care and education systems. PMID:27867261
Sober, Stephanie; Shea, Judy A; Shaber, Allison G; Whittaker, Paul G; Schreiber, Courtney A
The optimal approach for provision and timing of postpartum contraceptive counselling for adolescents has not been established. To reduce repeat pregnancies from current USA levels of nearly 20%, a better understanding is needed of postpartum adolescent females' preferences regarding contraceptive counselling and delivery. Semi-structured interviews with 30 USA postpartum teens (97% Black) explored pregnancy prevention and contraceptive counselling. Transcripts were independently coded by two researchers and inter-rater reliability calculated using Kappa coefficients. With a standard content analysis approach, common themes were identified, coded and summarized. Findings indicated pregnancy prevention was important - two thirds of subjects reported becoming pregnant 'too soon', almost all did not desire another child for at least 6 years and most indicated that pregnancy prevention was either 'very' or 'extremely' important right now. The subjects described doctors and their prenatal clinic as their most accurate sources of contraception information, but stated that doctors and parents were the most helpful sources. All were comfortable discussing contraception with providers and had a desire for shared decision making. While many had received written materials, most preferred in-person contraceptive counselling. Optimally, participants suggested that contraceptive counselling would be provided by a physician, begin antepartum and almost all preferred to leave the hospital with their chosen method of contraception. Pregnancy prevention is important for postpartum adolescents as most desired to delay future childbearing. In-person contraceptive counselling should begin in the antepartum period and include provision of contraception prior to discharge.
... Involved Donate Familial Amyotrophic Lateral Sclerosis (FALS) and Genetic Testing By Deborah Hartzfeld, MS, CGC, Certified Genetic ... guarantee a person will develop symptoms of ALS. Genetic Counseling If there is more than one person ...
Full Text Available This research aims to study and apply inventory management system for Third party logistics provider. Currently, the company uses economic order quantity to control inventory. The analysis of historical demand data shows that the demand is not deterministic. Hence, assumptions of using economic order quantity are violated. In this research, the simulation-based technique is applied to solve for optimal order quantity and reorder point. Since there are numerous items in the considered warehouse, ABC analysis is utilized to select important items to analyze. Then simulation and genetic algorithm are applied to find the optimal solution. Design of experiment with full factorial design is used to determine the best parameter setting of genetic algorithm. The performance measures are the average total inventory cost which composes of average ordering cost, average inventory holding cost and average lost sale cost. The results show that the average total cost for product code G2654, G2581, G0706, G2791 can be reduced by 73.43%, 49.86%, 28.50% and 13.38% respectively. For product code G2654, the average lost sale cost can be reduced by 85.30%. In summary, the solution from simulation and genetic algorithm provides better results than the one from economic order quantity method.
Vinciguerra, Margherita; Passarello, Cristina; Leto, Filippo; Cassarà, Filippo; Cannata, Monica; Maggio, Aurelio; Giambona, Antonino
Nearly 1183 different molecular defects of the globin genes leading to hemoglobin variants have been identified (http://globin.bx.psu.edu) over the past decades. The purpose of this study was to report three cases, never described in the literature, of co-inheritance of three β hemoglobin variants with other alterations in globin genes and to evaluate the clinical significance to conduct an appropriate genetic counseling. We report the molecular study performed in three probands and their families, sampling during the screening program conducted at the Laboratory for Molecular Prenatal Diagnosis of Hemoglobinopathies at Villa Sofia-Cervello Hospital in Palermo, Italy. This work allowed us to describe the co-inheritance of three rare β hemoglobin variants with other alterations in globin genes: the β hemoglobin variant Hb Yaounde [β134(H12)Val>Ala], found for the first time in combination with ααα(anti3.7) arrangement, and the β hemoglobin variants Hb Görwihl [β5(A2)Pro>Ala] and Hb City of Hope [β69(E13)Gly>Ser], found both in association with β(0) -thalassemia. The present work emphasizes the importance of a careful evaluation of the hematological data, especially in cases of atypical hematological parameters, to carry out an adequate and complete molecular study and to formulate an appropriate genetic counseling for couples at risk. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Cancer risk assessment, genetic counseling and genetic testing have experienced advances and changes over the past two decades due to improved technology, legal movements to protect those at an increased risk for cancer due to genetics, as well as advances in detection, prevention and treatment. This brief article will provide a summary of these advances over three eras of cancer genetics: pre-discovery of the more common high impact genes, namely BRCA1/BRCA2 and the mismatch repair genes associated with Lynch syndrome; the time during which the genes were being discovered; and current day.
Manuel M Müller
Full Text Available The contemporary proteinogenic repertoire contains 20 amino acids with diverse functional groups and side chain geometries. Primordial proteins, in contrast, were presumably constructed from a subset of these building blocks. Subsequent expansion of the proteinogenic alphabet would have enhanced their capabilities, fostering the metabolic prowess and organismal fitness of early living systems. While the addition of amino acids bearing innovative functional groups directly enhances the chemical repertoire of proteomes, the inclusion of chemically redundant monomers is difficult to rationalize. Here, we studied how a simplified chorismate mutase evolves upon expanding its amino acid alphabet from nine to potentially 20 letters. Continuous evolution provided an enhanced enzyme variant that has only two point mutations, both of which extend the alphabet and jointly improve protein stability by >4 kcal/mol and catalytic activity tenfold. The same, seemingly innocuous substitutions (Ile→Thr, Leu→Val occurred in several independent evolutionary trajectories. The increase in fitness they confer indicates that building blocks with very similar side chain structures are highly beneficial for fine-tuning protein structure and function.
Piero C. Giordano
Full Text Available The aims of this study are: i to enquire whether informing healthy hemoglobinopathy carriers about their condition is a welcome initiative in The Netherlands; ii to study whether using information letters and thorough explanation is associated with presence or absence of undesired feelings or emotions. We have approached 100 multi-ethnic carriers previously diagnosed in our lab. All subjects had previously received our information letter through their physician who was supposed to have provided an explanation of the letter if required. We have enquired whether the subjects had experienced negative or positive emotions after receiving our diagnosis and explanation and to which degree, if they were sufficiently informed and satisfied and if they would have considered prevention in case of risk. The rate negative versus positive feelings was calculated using a numerical distribution. We have registered negative feelings in a rate that was directly proportional to the lack of information. While the number of registered negative feelings in well-informed carriers was very low it was more present in badly informed. Nevertheless, all participants found carrier information a welcome initiative and over 80% of them declared to be in favor of prenatal diagnosis in case of risk.
Frankel, M. S.
Issues concerning the use of genetic technology are discussed. Some areas discussed include treating genetic disease, prenatal diagnosis and selective abortion, screening for genetic disease, and genetic counseling. Policy issues stemming from these capabilities are considered.
Donald A. Odeleye
Education in the broadest sense is aimed at helping individuals become more productive members of the society. At the heart of the whole pedagogy is Guidance and Counselling, which has been positively correlated with effective learning outcomes. Primarily, School Guidance and Counselling services are geared towards helping students know themselves, the world around them and make optimal decisions for enhanced future for all. This paper presents guidance and counselling services provided in th...
On Friday, May 23, 2003, the Payment Cards Center hosted a workshop led by collections managers from J.P. Morgan Chase and Juniper Bank. The managers provided the credit card issuers' perspective on the consumer credit counseling industry. The day's discussion complemented an earlier workshop at which representatives from local consumer credit counseling services (CCCS) discussed their business model. After describing the ways in which new market entrants have affected the counseling industry...
Full Text Available Abstract Background The HIV prevalence in Malawi is 12% and Kamuzu Central Hospital (KCH, in the capital Lilongwe, is the main provider of adult and paediatric HIV services in the central region. The Lighthouse at KCH offers opt-in HIV testing and counselling (HTC for adults and children. In June 2004, Lighthouse was the first clinic to provide free antiretroviral treatment (ART in the public sector, but few children accessed the services. In response, provider-initiated HIV testing and counselling (PITC and an ART clinic were introduced at the paediatric department at KCH in Quarter 4 (Q4 2004. Methods We analysed prospectively collected, aggregated data of quarterly reports from Q1 2003 to Q4 2006 from HTC centre registers, ART registers and clinic registrations at the ART clinics of both Lighthouse and the paediatric department. By comparing data of both facilities before (Q1 2003 to Q3 2004, and after the introduction of the services at the paediatric department (Q4 2004 to Q4 2006, we assessed the effect of this intervention on the uptake of HIV services for children at KCH. Results Overall, 3971 children were tested for HIV, 2428 HIV-infected children were registered for care and 1218 started ART. Between the two periods, the median (IQR number of children being tested, registered and starting ART per quarter rose from 101 (53-109 to 358 (318-440, 56 (50-82 to 226 (192-234 and 18 (8-23 to 139 (115-150, respectively. The median proportion of tested clients per quarter that were children rose from 3.8% (2.7-4.3 to 9.6% (8.8 to 10.0 (p = 0.0009 and the proportion of ART starters that were children rose from 6.9% (4.9-9.3 to 21.1% (19.2-24.2 (p = 0.0036. The proportion of registered children and adults starting ART each quarter increased similarly, from 26% to 53%, and 20% to 52%, respectively. Conclusions Implementation of PITC and integration of ART services within the paediatric ward are likely to be the main reasons for improved access to
Strader, Michael Brad; Bangle, Rachel; Parker Siburt, Claire J; Varnado, Cornelius L; Soman, Jayashree; Benitez Cardenas, Andres S; Samuel, Premila S; Singleton, Eileen W; Crumbliss, Alvin L; Olson, John S; Alayash, Abdu I
Previous work suggested that hemoglobin (Hb) tetramer formation slows autoxidation and hemin loss and that the naturally occurring mutant, Hb Providence (βK82D) is much more resistant to degradation by H2O2 We have examined systematically the effects of genetic crosslinking of Hb tetramers with and without the Hb Providence mutation on autoxidation, hemin loss, and reactions with H2O2, using native HbA and various wild-type recombinant Hbs as controls. Genetically crosslinked Hb Presbyterian (βN108K) was also examined as an example of a low oxygen affinity tetramer. Our conclusions are: (a) at low concentrations, all the crosslinked tetramers show smaller rates of autoxidation and hemin loss than HbA, which can dissociate into much less stable dimers and (b) the Hb Providence βK82D mutation confers more resistance to degradation by H2O2, by markedly inhibiting oxidation of the β93 cysteine side chain, particularly in crosslinked tetramers and even in the presence of the destabilizing Hb Presbyterian mutation. These results show that crosslinking and the βK82D mutation do enhance the resistance of Hb to oxidative degradation, a critical element in the design of a safe and effective oxygen therapeutic. ©2017 The Author(s).
... URBAN DEVELOPMENT Notice of Submission of Proposed Information Collection to OMB; Housing Counseling... provide oversight for agencies approved to participate in the Housing Counseling Program. Specifically... counseling aids tenants and homeowners in ] improving their housing conditions and in meeting the...
Hayat Roshanai, Afsaneh; Lampic, Claudia; Ingvoldstad, Charlotta; Askmalm, Marie Stenmark; Bjorvatn, Chathrine; Rosenquist, Richard; Nordin, Karin
This study explored the informational needs of individuals attending genetic counseling for hereditary cancer, using a free-choice and a forced choice method. Prior to the consultation the informational needs of 334 counselees from Sweden and Norway were assessed by the QUOTE-gene (ca) questionnaire and by a study specific forced choice method, using Q-methodology. Questionnaire responses indicated that counselees' major concerns pertained to the need to be taken seriously, to be provided with sufficient risk estimation and medical/genetic information and to be involved in the decision making process. Furthermore, prior to counseling, counselees noted that the counselors' consideration and skillfulness were also extremely important. Analysis of the Q-sorting results revealed that counselees' needs could be assigned to one of five groups: the "need for facts; caring communication and medical information; information and support in communicating the genetic information to others; practical care and practical/medical information". Particularly noteworthy, counselees with varying backgrounds characteristics prioritized different needs. Cancer genetic counselees probably have different needs due to their medical and demographic background when attending genetic counseling. Addressing counselees' specific concerns more sufficiently and thereby increasing the overall effectiveness of the counseling session requires increased insight into individual needs, by for instance, utilizing screening methods such as QUOTE-gene (ca) prior to the counseling session.
... such as nurses, psychologists, or social workers). Genetic counseling can help people consider the risks, benefits, and limitations of ... other health care professional trained in genetics can help an individual ... counseling may include discussing recommendations for preventive care and ...
... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false Counseling of homebuyers. 904.105... DEVELOPMENT LOW RENT HOUSING HOMEOWNERSHIP OPPORTUNITIES Turnkey III Program Description § 904.105 Counseling of homebuyers. The LHA shall provide counseling and training as provided in subpart C of this part...
Prosek, Elizabeth A.; Holm, Jessica M.; Daly, Cynthia M.
Graduate students experience mental health distress. The authors investigated the benefits of required counseling services at a training clinic for students enrolled in counseling courses. Results indicated that after receiving services, students ("N" = 55) reported decreases in overall problems, depressive symptoms, and anxiety…
Ao, Jingqun; Mu, Yinnan; Xiang, Li-Xin; Fan, DingDing; Feng, MingJi; Zhang, Shicui; Shi, Qiong; Zhu, Lv-Yun; Li, Ting; Ding, Yang; Nie, Li; Li, Qiuhua; Dong, Wei-Ren; Jiang, Liang; Sun, Bing; Zhang, XinHui; Li, Mingyu; Zhang, Hai-Qi; Xie, ShangBo; Zhu, YaBing; Jiang, XuanTing; Wang, Xianhui; Mu, Pengfei; Chen, Wei; Yue, Zhen; Wang, Zhuo; Wang, Jun; Shao, Jian-Zhong; Chen, Xinhua
The large yellow croaker Larimichthys crocea (L. crocea) is one of the most economically important marine fish in China and East Asian countries. It also exhibits peculiar behavioral and physiological characteristics, especially sensitive to various environmental stresses, such as hypoxia and air exposure. These traits may render L. crocea a good model for investigating the response mechanisms to environmental stress. To understand the molecular and genetic mechanisms underlying the adaptation and response of L. crocea to environmental stress, we sequenced and assembled the genome of L. crocea using a bacterial artificial chromosome and whole-genome shotgun hierarchical strategy. The final genome assembly was 679 Mb, with a contig N50 of 63.11 kb and a scaffold N50 of 1.03 Mb, containing 25,401 protein-coding genes. Gene families underlying adaptive behaviours, such as vision-related crystallins, olfactory receptors, and auditory sense-related genes, were significantly expanded in the genome of L. crocea relative to those of other vertebrates. Transcriptome analyses of the hypoxia-exposed L. crocea brain revealed new aspects of neuro-endocrine-immune/metabolism regulatory networks that may help the fish to avoid cerebral inflammatory injury and maintain energy balance under hypoxia. Proteomics data demonstrate that skin mucus of the air-exposed L. crocea had a complex composition, with an unexpectedly high number of proteins (3,209), suggesting its multiple protective mechanisms involved in antioxidant functions, oxygen transport, immune defence, and osmotic and ionic regulation. Our results reveal the molecular and genetic basis of fish adaptation and response to hypoxia and air exposure. The data generated by this study will provide valuable resources for the genetic improvement of stress resistance and yield potential in L. crocea.
Shi, Qiong; Zhu, Lv-Yun; Li, Ting; Ding, Yang; Nie, Li; Li, Qiuhua; Dong, Wei-ren; Jiang, Liang; Sun, Bing; Zhang, XinHui; Li, Mingyu; Zhang, Hai-Qi; Xie, ShangBo; Zhu, YaBing; Jiang, XuanTing; Wang, Xianhui; Mu, Pengfei; Chen, Wei; Yue, Zhen; Wang, Zhuo; Wang, Jun; Shao, Jian-Zhong; Chen, Xinhua
The large yellow croaker Larimichthys crocea (L. crocea) is one of the most economically important marine fish in China and East Asian countries. It also exhibits peculiar behavioral and physiological characteristics, especially sensitive to various environmental stresses, such as hypoxia and air exposure. These traits may render L. crocea a good model for investigating the response mechanisms to environmental stress. To understand the molecular and genetic mechanisms underlying the adaptation and response of L. crocea to environmental stress, we sequenced and assembled the genome of L. crocea using a bacterial artificial chromosome and whole-genome shotgun hierarchical strategy. The final genome assembly was 679 Mb, with a contig N50 of 63.11 kb and a scaffold N50 of 1.03 Mb, containing 25,401 protein-coding genes. Gene families underlying adaptive behaviours, such as vision-related crystallins, olfactory receptors, and auditory sense-related genes, were significantly expanded in the genome of L. crocea relative to those of other vertebrates. Transcriptome analyses of the hypoxia-exposed L. crocea brain revealed new aspects of neuro-endocrine-immune/metabolism regulatory networks that may help the fish to avoid cerebral inflammatory injury and maintain energy balance under hypoxia. Proteomics data demonstrate that skin mucus of the air-exposed L. crocea had a complex composition, with an unexpectedly high number of proteins (3,209), suggesting its multiple protective mechanisms involved in antioxidant functions, oxygen transport, immune defence, and osmotic and ionic regulation. Our results reveal the molecular and genetic basis of fish adaptation and response to hypoxia and air exposure. The data generated by this study will provide valuable resources for the genetic improvement of stress resistance and yield potential in L. crocea. PMID:25835551
Edo Journal of Counselling, the official publication of Edo Chapter of Counselling Association of Nigeria publishes original well researched and well articulated papers/articles on all issues relating to counselling and psychology that use a variety of appropriate approaches to the conduct of theoretical, empirical and ...
Mirabile, Richard J.
Describes outplacement counseling as a process that enables management to deal with the problem of the employee who must be released or the staff that must be reduced. Discusses the process of outplacement counseling, the stages of transition counseling, and techniques to be implemented. (BH)
Vera, George Davy
In the worldwide community it is not well known that counseling and guidance professional practices have a long tradition in Venezuela. Therefore, this contribution's main purpose is to inform the international audience about past and contemporary counseling in Venezuela. Geographic, demographic, and cultural facts about Venezuela are provided.…
Nafziger, Jacinta; DeKruyf, Lorraine
This article introduces narrative counseling concepts and techniques for professional school counselors. The authors provide a case study of narrative school counseling with an elementary student struggling with selective mutism. Examples also demonstrate how a narrative approach could be used at elementary, middle, and high school levels within…
The Legal Counsel assists the Corporate Secretary and General Counsel in advising, and providing support to, Centre management and the Board of Governors ... Advises on governance and administrative structures and regimes for large scale projects, including in-house “corporate projects”, and assists with the eventual ...
Brown, Amanda P.; Marquis, Andre; Guiffrida, Douglas A.
Mindfulness is a relatively new construct in counseling that is rapidly gaining interest as it is applied to people struggling with a myriad of problems. Research has consistently demonstrated that counseling interventions using mindfulness improve well-being and reduce psychopathology. This article provides a detailed definition of mindfulness,…
Hopkins, P E
Notes that pastoral counseling is an ancient ministry which brings rich resources to the contemporary efforts to develop wholistic healing. Provides a historical background summary, a sketch of Judeo-Christian tradition, and clinical examples to illustrate ways in which modern explorations in mind/body wellness can be enhanced by including the pastoral counseling project.
Sun, Chengming; Wang, Benqi; Yan, Lei; Hu, Kaining; Liu, Sheng; Zhou, Yongming; Guan, Chunyun; Zhang, Zhenqian; Li, Jiana; Zhang, Jiefu; Chen, Song; Wen, Jing; Ma, Chaozhi; Tu, Jinxing; Shen, Jinxiong; Fu, Tingdong; Yi, Bin
Plant height is a key morphological trait of rapeseed. In this study, we measured plant height of a rapeseed population across six environments. This population contains 476 inbred lines representing the major Chinese rapeseed genepool and 44 lines from other countries. The 60K Brassica Infinium® SNP array was utilized to genotype the association panel. A genome-wide association study (GWAS) was performed via three methods, including a robust, novel, nonparametric Anderson-Darling (A-D) test. Consequently, 68 loci were identified as significantly associated with plant height (P 0.1), we found plausible candidates orthologous to the documented Arabidopsis genes involved in height regulation. One significant association found by GWAS colocalized with the established height locus BnRGA in rapeseed. Our results provide insights into the genetic basis of plant height in rapeseed and may facilitate marker-based breeding.
Full Text Available Plant height is a key morphological trait of rapeseed. In this study, we measured plant height of a rapeseed population across six environments. This population contains 476 inbred lines representing the major Chinese rapeseed genepool and 44 lines from other countries. The 60K Brassica Infinium® SNP array was utilized to genotype the association panel. A genome-wide association study (GWAS was performed via three methods, including a robust, novel, nonparametric Anderson-Darling (A-D test. Consequently, 68 loci were identified as significantly associated with plant height (P 0.1, we found plausible candidates orthologous to the documented Arabidopsis genes involved in height regulation. One significant association found by GWAS colocalized with the established height locus BnRGA in rapeseed. Our results provide insights into the genetic basis of plant height in rapeseed and may facilitate marker-based breeding.
Prameela Kannan Kutty
Full Text Available The anticancer potential by breastfeeding is not fully tapped in the light of the present knowledge of the subject. Literature indicates that breastmilk has anticancer action but may underestimate its full capacity. The protective spectrum within breastmilk hints on the need for a more comprehensive understanding of it as an anticancer tool. Exclusive breastfeeding could confer protection from carcinogenesis with a greater impact than realised. A literature review was conducted using four electronic databases. Selected areas were extracted after thorough perusal of the articles. The uninitiated would take exclusive breastfeeding seriously if actively counselled as an anticancer tool. Advice on details of the breastfeeding process and holistic information on breastfeeding may endow a greater impact among the skeptics. Counselling the breastfeeding mother on information sometimes not imparted, such as on maternal nutrition, details of the process of breastfeeding, benefits of direct breastfeeding versus milk expression and her psychosocial well being may make a difference in optimising anticancer action that exists in breastmilk. Additionally, its anticancer potential provides a platform to universally improve physical and psychosocial well being of women who breastfeed. Statistics of protection by breastfeeding in some maternal and childhood cancers are evident. “Bio-geno-immuno-nutrition” of breastmilk may shield the mother and infant from carcinogenesis in more ways than appreciated. The molecular basis of mother-to-infant signals and their “energies” need to be researched. Breastfeeding as a modifiable behaviour provides cost effective nutrition with potential for both cancer immunoprophylaxis and immunotherapy.
Crowley, Susan L.; Lichtenberg, James W.; Pollard, Jeffrey W.
Although specialty board certification by the American Board of Professional Psychology (ABPP) has been a valued standard for decades, the vast majority of counseling psychologists do not pursue board certification in the specialty. The present article provides a brief history of board certification in general and some historical information about…
Mobley, A. Keith
A substantial portion of the college student population experiences affective disorders. This case study presents the conceptualization, course of treatment, and outcomes for a male college student presenting for counseling with depression. A review of Adlerian, cognitive-behavioral, and Gestalt techniques is provided. (Contains 1 figure.)
Elaine E Steinke
Full Text Available Patients with cardiovascular disease and their partners expect health care providers to provide sexual counseling to assist them in maintaining sexual quality of life. Evidence suggests however, that there is a gap in integrating evidence into practice and that relatively few cardiac patients receive sexual counseling. This can result in negative psychological, physical, and quality of life outcomes for couples who may needlessly decide sexual activity is too risky and cease all sexual activity. Two scientific statements now exist that provide ample guidance to health care providers in discussing this important topic. Using a team approach that includes physicians, nurses, physical therapists, rehabilitation staff, and others is important to ensure that sexual counseling occurs throughout recovery. In addition, several trials using interventional approaches for sexual counseling provide insight into successful approaches for sexual counseling in practice. This article provides practical strategies and evidence-based approaches for assessment and sexual counseling for all cardiac patients and their partners, and specific counseling for those with ischemic conditions, heart failure, and implanted devices.
This article explores whether or not the gender of parents of children with hearing impairments has a part to play in their preference for sources of counseling. Discussions on sources of counseling and implications for counselors and the counseling field are provided. Out of a population of all parents of identified school ...
Palmer, Geoffrey J.; Palmer, Ransford W.; Payne-Borden, Jacqueline
Counseling maintains a small yet growing presence in Jamaica as a profession. Practitioners are confronted with several societal problems. The authors provide a historical overview of Jamaica and a synopsis of the development of counseling. The emergence of counseling services through the limitations of psychiatry and psychology sets the stage for…
Swank, Jacqueline M.; Tyson, Lawrence
A need exists for training school counseling site supervisors in providing clinical supervision to school counseling practicum and internship students. This article outlines a Web-based training program containing six modules to assist counselor education programs in educating school counseling site supervisors. The authors also address the…
Yin-Fah, Benjamin Chan; Sok-Foon, Yeoh; Migin, Melissa W.
University can be an exciting yet challenging transition for students. Many universities provide counselling services to students who need it during their tertiary studies but many students tend to avoid counselling. This study was conducted to identify the counselling service experience among undergraduate students. The emphasis was on the past…
Lee, Khai Ling; Mustaffa, M. S.; Tan, S. Y.
This study provides a better understanding of using visual arts in counselling adults with depressive disorders. Three in-depth case studies were conducted in the counselling unit of a mental health hospital in Malaysia. Both qualitative and quantitative research methods were applied to explore three adult participants' counselling experiences.…
Too, it was found that teachers' attitudes, training in counselling, availability of time and facilities have a negative impact on the guidance and counselling programme. The Government and the schools' management do not provide the needed infrastructure for guidance and counseling. It was recommended that training of ...
Tompkins, Tawnya Horsley; Belza, Basia; Brown, Marie-Annette
To describe nurse practitioner (NP) practice patterns for exercise counseling for adults. Using a cross-sectional design, participants completed a self-administered questionnaire that ascertained barriers and facilitators encountered when providing exercise counseling. Participants included 398 NPs, who averaged 11 years in practice (SD = 7.9) and worked in a variety of practice areas. In a given week, about half (48%) of the NPs counseled more than 50% of their patients for exercise. The majority of participants (84%) agreed that exercise counseling is as valuable an intervention as prescribed medication. More than half (59%) of the participants exercised regularly. Barriers and facilitators to exercise counseling were predominantly a patient's lack of interest and the length of the patient visit. Specific strategies were identified for older adults and individuals residing in rural areas who may require more tailored exercise counseling. Participants demonstrated strong values about exercise counseling and observed that exercise had clear benefits for their patients. NP respondents offered recommendations focused on safety and adherence that can be used to improve exercise counseling. Exercise is a crucial component of preventative health care. Studies have shown that healthcare provider recommendations can be effective in helping patients increase their exercise and activity.
Objectives. The objective of this study was to investigate the fit between Inuit conceptions of effective helping and Western counselling. Study Design/Methods. The essential components and value foundations of effective Western counselling, including multicultural counselling, were identified from primary and secondary counselling texts. Inuit traditional values and helping practices were identified from the transcripts of interviews with Inuit elders. Interviews with 5 younger Inuit provide...
Kodde, J.; Hofman, N.; Reichert, C.L.A.; Van Langen, I.M.; Wilde, A.A.M.
Background. Inherited heart disease is becoming a substantial part of everyday cardiology practice while genetic counselling still only takes place at university hospitals. In this study we review our seven-year experience with cardiogenetic counselling in a non-university hospital. Methods.
Full Text Available Cyber counseling is divided into various shapes, one form is the use of facebook. Guidance and counseling teacher in schools can implement the cyber counseling assited with facebook to reduce online game addiction the students who are more likely to prefer to communicate by text relationship, and students who do not feel comfortable with counseling services by face to face. Problems of children who are addicted Online Games at school require a relief to effort with Group Counseling assited with facebook services for addressing and alleviating the problems experienced, both personal and social through cyber counseling. The positive impact of service delivery cyber counseling assited with facebook is not out of the role from well counselors as providers to service with the active role of students while finding information on social media like Facebook, so socializing continually needs to be implemented further Keyword : Cyber Counseling, Facebook, Online Game Addiction
Full Text Available Cyber counseling is divided into various shapes, one form is the use of facebook. Guidance and counseling teacher in schools can implement the cyber counseling assited with facebook to reduce online game addiction the students who are more likely to prefer to communicate by text relationship, and students who do not feel comfortable with counseling services by face to face. Problems of children who are addicted Online Games at school require a relief to effort with Group Counseling assited with facebook services for addressing and alleviating the problems experienced, both personal and social through cyber counseling. The positive impact of service delivery cyber counseling assited with facebook is not out of the role from well counselors as providers to service with the active role of students while finding information on social media like Facebook, so socializing continually needs to be implemented furtherKeyword : Cyber Counseling, Facebook, Online Game Addiction
The internet provides a new platform for communication especially used by teenagers and young adults. Professional counselling in this medium offers the chance to reach especially those individuals perhaps not reachable through existing counselling services. With this in mind, the internet portal bke (youth counselling of the Federal conference for Educational Counselling) was inaugurated in October 2000. It offers the following services: Group Chat, Discussion Forum and E-Mail Counselling. The experience made in this project phase indicates that professional counselling in this medium can reach individuals directly, who would otherwise not or only with difficulty be reached by the ordinary counselling services on offer. This is due to the fact that the internet is easily accessible, offers anonymity and therefore presents no noteworthy access barrier to overcome. This seems to apply especially to traumatised teenagers and young adults. Online counselling offers great opportunities exactly in these cases. The special task of a counsellor is to grasp this opportunity whilst at the same time having an awareness of the mediums limitations.
Mølgaard, Dorthe Busk
Counseling is about supporting and challenging students in making decisions, being adaptive, seeing opportunities and acquiring self-knowledge. Literaturesearch of articles about counseling research in nordic teacher education 2008-2013 shows no results. We started a participant-orientated pilotp......Counseling is about supporting and challenging students in making decisions, being adaptive, seeing opportunities and acquiring self-knowledge. Literaturesearch of articles about counseling research in nordic teacher education 2008-2013 shows no results. We started a participant......-orientated pilotproject about counseling in teacher education. The aim was to acquire knowledge about how students perceive counseling. This knowledge could help uncover potential areas of development for counselingpractice. In the pilotproject it is tested if the chosen method is suitable for bigger qualitative study...
Morris, Andrew P; Voight, Benjamin F; Teslovich, Tanya M
To extend understanding of the genetic architecture and molecular basis of type 2 diabetes (T2D), we conducted a meta-analysis of genetic variants on the Metabochip, including 34,840 cases and 114,981 controls, overwhelmingly of European descent. We identified ten previously unreported T2D suscep...
Mabel Domínguez Mena
Full Text Available Se realizó un estudio descriptivo en la Consulta de Desarrollo de la Ginecología del municipio La Lisa, en el período comprendido de enero de 1999 hasta diciembre de 2003. La muestra la conformaron 338 embarazadas portadoras de anemia a hematíes falciformes, a las que se les brindó asesoramiento genético que incluyó la repetición del estudio de electroforesis de hemoglobina y la realización al esposo. Los datos fueron procesados en el cálculo porcentual. Se detectaron 28parejas de riesgo (7,4 %, de las cuales 21 (75, 0 % optaron por el diagnóstico prenatal de hemoglobina fetal. Se encontraron 4 fetos con anemia a hematíes falciformes (19 % y 9 portadores (42,8 %. No se realizaron diagnóstico prenatal 7 pacientes (25 %, de ellas 5 (71,4 % por edad gestacional avanzada y 2 (28, 5 % por negarse a la realización del proceder médico. El asesoramiento genético fue no directivo, respetando las decisiones personales, confiabilidad, explicando la relación riesgo/beneficio, y obteniendo en todos los casos el consentimiento informado para el diagnóstico prenatal.A descriptive study was undertaken at the Office of Genetics Development of La Lisa municipality from January 1999 to December 2003. The sample was composed of 338 pregnant women carriers of sickle cell anemia that received genetical counselling, which included the conduction of hemoglobin electrophoresis in the expectants and their husbands. The data were processed by percentage calculation. 28 risk couples were detected (7.2 %, of which 21 (75 % chose the prenatal diagnosis of fetal hemoglobin. 4 fetoes with sickle cell anemia (19 % and 9 carriers (42.8 % were found. 7 patients did not have prenatal diganosis (25 %, 5 of them (71.4 % due to advanced gestational age and 2 (28.5 % for rejecting to do so. The genetical counselling was not directive. The personal decisions were respected and reliability was guaranteed. The risk/benefit relation was explained and in all cases the
Presents a counseling and human sexuality course model that provides counselors with an information base in human sexuality and assists them in exploring the emotional aspects of sexuality. Human sexuality is a vital aspect of personal development. (Author)
Sheina B. Sim
Full Text Available Genetic sexing strains (GSS used in sterile insect technique (SIT programs are textbook examples of how classical Mendelian genetics can be directly implemented in the management of agricultural insect pests. Although the foundation of traditionally developed GSS are single locus, autosomal recessive traits, their genetic basis are largely unknown. With the advent of modern genomic techniques, the genetic basis of sexing traits in GSS can now be further investigated. This study is the first of its kind to integrate traditional genetic techniques with emerging genomics to characterize a GSS using the tephritid fruit fly pest Bactrocera cucurbitae as a model. These techniques include whole-genome sequencing, the development of a mapping population and linkage map, and quantitative trait analysis. The experiment designed to map the genetic sexing trait in B. cucurbitae, white pupae (wp, also enabled the generation of a chromosome-scale genome assembly by integrating the linkage map with the assembly. Quantitative trait loci analysis revealed SNP loci near position 42 MB on chromosome 3 to be tightly linked to wp. Gene annotation and synteny analysis show a near perfect relationship between chromosomes in B. cucurbitae and Muller elements A–E in Drosophila melanogaster. This chromosome-scale genome assembly is complete, has high contiguity, was generated using a minimal input DNA, and will be used to further characterize the genetic mechanisms underlying wp. Knowledge of the genetic basis of genetic sexing traits can be used to improve SIT in this species and expand it to other economically important Diptera.
The Virginia Tech Thomas E. Cook Counseling Center has been accredited by the International Association of Counseling Services, Inc., an organization of United States, Canadian, and Australian counseling agencies based in Alexandria, Va.
Scheel, Michael J.; Berman, Margit; Friedlander, Myrna L.; Conoley, Collie W.; Duan, Changming; Whiston, Susan C.
Three counseling psychology colleagues (Lichtenberg, 2011; Mallinckrodt, 2011; Murdock, 2011 [all this issue]) provide differing perspectives about the findings from our target article (Scheel et al., 2011) of the decline of published counseling-related research in our major journals. In this rejoinder we respond to each author's viewpoints…
Samimi, G.; Bernardini, M.Q.; Brody, L.C.; Caga-Anan, C.F.; Campbell, I.G.; Chenevix-Trench, G.; Couch, F.J.; Dean, M.; Hullu, J.A. de; Domchek, S.M.; Drapkin, R.; Spencer Feigelson, H.; Friedlander, M.; Gaudet, M.M.; Harmsen, M.G.; Hurley, K.; James, P.A.; Kwon, J.S.; Lacbawan, F.; Lheureux, S.; Mai, P.L.; Mechanic, L.E.; Minasian, L.M.; Myers, E.R.; Robson, M.E.; Ramus, S.J.; Rezende, L.F.; Shaw, P.A.; Slavin, T.P.; Swisher, E.M.; Takenaka, M.; Bowtell, D.D.; Sherman, M.E.
In May 2016, the Division of Cancer Prevention and the Division of Cancer Control and Population Sciences, National Cancer Institute, convened a workshop to discuss a conceptual framework for identifying and genetically testing previously diagnosed but unreferred patients with ovarian cancer and
Charron, Philippe; Arad, Michael; Arbustini, Eloisa; Basso, Cristina; Bilinska, Zofia; Elliott, Perry; Helio, Tiina; Keren, Andre; McKenna, William J.; Monserrat, Lorenzo; Pankuweit, Sabine; Perrot, Andreas; Rapezzi, Claudio; Ristic, Arsen; Seggewiss, Hubert; van Langen, Irene; Tavazzi, Luigi
Advances in molecular genetics present new opportunities and challenges for cardiologists who manage patients and families with cardiomyopathies. The aims of this position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases are to review the general
Rouan, F; Pulkkinen, L; Jonkman, MF; Cserhalmi-Friedman, PB; Christiano, AM; Uitto, J
The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in the type VII collagen gene (COL7A1). In dominant DEB, a characteristic genetic lesion is a glycine substitution mutation within the collagenous domain of the protein. In this study, we have examined the molecular basis of
Full Text Available Objective. Cell-free DNA (cfDNA offers highly accurate noninvasive screening for Down syndrome. Incorporating it into routine care is complicated. We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management. Study Design. Beginning in January 2013, we initiated a new patient care model in which high-risk patients for aneuploidy received genetic counseling at 12 weeks of gestation. Patients were presented with four pathways for aneuploidy risk assessment and diagnosis: (1 cfDNA; (2 integrated screening; (3 direct-to-invasive testing (chorionic villus sampling or amniocentesis; or (4 no first trimester diagnostic testing/screening. Patients underwent follow-up genetic counseling and detailed ultrasound at 18–20 weeks to review first trimester testing and finalize decision for amniocentesis. Results. Counseling and second trimester detailed ultrasound were provided to 163 women. Most selected cfDNA screening (69% over integrated screening (0.6%, direct-to-invasive testing (14.1%, or no screening (16.6%. Amniocentesis rates decreased following implementation of cfDNA screening (19.0% versus 13.0%, P<0.05. Conclusion. When counseled about screening options, women often chose cfDNA over integrated screening. This program is a model for patient-directed, efficient delivery of a newly available high-level technology in a public health setting. Genetic counseling is an integral part of patient education and determination of plan of care.
Knowledge of tuberculosis (TB) and human immunodeficiency virus (HIV) and perception about provider initiated HIV testing and counselling among TB patients attending health facilities in Harar town, Eastern Ethiopia
Background Tuberculosis (TB) and Human Immunodeficiency Virus (HIV) co-infection is one of the major health problems in Ethiopia. The national TB and HIV control guideline in Ethiopia recommends provider initiated HIV testing and counselling (PITC) as a routine care for TB patients. However, the impact of this approach on the treatment seeking of TB patients has not been well studied. In this study, we assessed knowledge of TB and HIV, and perception about PITC among TB patients attending health facilities in Harar town, Eastern Ethiopia. Methods In a health facilities based cross-sectional study, a total of 415 study participants were interviewed about knowledge of TB and HIV as well as the impact of HIV testing on their treatment seeking behavior using a semi-structured questionnaires. Results Multivariable logistic regression analysis showed the association of distance > 10 km from health facility [adjusted odds ratio (AOR)=0.48, 95% CI: 0.24 - 0.97, P=0.042] with low knowledge of TB. Distance > 10 km from health facility (AOR= 0.12, 95% CI: 0.06 -0.23, P .001) was also associated with low knowledge of HIV testing. Delay in treatment seeking was associated with female participants (AOR = 0.11, 95% CI: 0.05-0.25, .001), single marital status (AOR =0.001, 95% CI: 0.00 - 0.01, P.001) and distance > 10 km from health facility (AOR =0.46, 95% CI: 0.28 - 0.75, P=0.002). Most of the study participants (70%) believed that there is no association between TB and HIV/AIDS. On the other hand, two thirds (66.5%) of the participants thought that HIV testing has importance for TB patients. However, the majority (81.6%) of the study participants in the age category less than 21 years believed that fear of PITC could cause delay in treatment seeking. Conclusion The study showed the association of low knowledge of the study participants about TB and HIV testing with distance > 10 km from health facility. Study participants in the age category less than 21 years thought that fear
The Indigenous Counselling and Nicotine (ICAN) QUIT in Pregnancy Pilot Study protocol: a feasibility step-wedge cluster randomised trial to improve health providers' management of smoking during pregnancy.
Bar-Zeev, Yael; Bonevski, Billie; Bovill, Michelle; Gruppetta, Maree; Oldmeadow, Chris; Palazzi, Kerrin; Atkins, Lou; Reath, Jennifer; Gould, Gillian S
Indigenous women have the highest smoking prevalence during pregnancy (47%) in Australia. Health professionals report lack of knowledge, skills and confidence to effectively manage smoking among pregnant women in general. We developed a behaviour change intervention aimed to improve health professionals' management of smoking in Indigenous pregnant women-the Indigenous Counselling And Nicotine (ICAN) QUIT in Pregnancy. This intervention includes webinar training for health professionals, an educational resources package for health professionals and pregnant women, free oral nicotine replacement therapy (NRT) for pregnant women, and audit and feedback on health professionals' performance.The aim of this study is to test the feasibility and acceptability of the ICAN QUIT in Pregnancy intervention to improve health professionals' provision of evidence-based culturally responsive smoking cessation care to Australian Indigenous pregnant smokers. This protocol describes the design of a step-wedge cluster randomised pilot study. Six Aboriginal Medical Services (AMSs) are randomised into three clusters. Clusters receive the intervention staggered by 1 month. Health professionals report on their knowledge and skills pretraining and post-training and at the end of the study. Pregnant women are recruited and followed up for 3 months. The primary outcome is the recruitment rate of pregnant women. Secondary outcomes include feasibility of recruitment and follow-up of participating women, and webinar training of health professionals, measured using a designated log; and measures of effectiveness outcomes, including quit rates and NRT prescription rates. In accordance with the Aboriginal Health and Medical Research Council guidelines, this study has been developed in collaboration with a Stakeholder and Consumer Aboriginal Advisory Panel (SCAAP). The SCAAP provides cultural consultation, advice and direction to ensure that implementation is acceptable and respectful to the
The Indigenous Counselling and Nicotine (ICAN) QUIT in Pregnancy Pilot Study protocol: a feasibility step-wedge cluster randomised trial to improve health providers' management of smoking during pregnancy
Bonevski, Billie; Bovill, Michelle; Gruppetta, Maree; Oldmeadow, Chris; Palazzi, Kerrin; Atkins, Lou; Reath, Jennifer
Introduction Indigenous women have the highest smoking prevalence during pregnancy (47%) in Australia. Health professionals report lack of knowledge, skills and confidence to effectively manage smoking among pregnant women in general. We developed a behaviour change intervention aimed to improve health professionals’ management of smoking in Indigenous pregnant women—the Indigenous Counselling And Nicotine (ICAN) QUIT in Pregnancy. This intervention includes webinar training for health professionals, an educational resources package for health professionals and pregnant women, free oral nicotine replacement therapy (NRT) for pregnant women, and audit and feedback on health professionals' performance. The aim of this study is to test the feasibility and acceptability of the ICAN QUIT in Pregnancy intervention to improve health professionals' provision of evidence-based culturally responsive smoking cessation care to Australian Indigenous pregnant smokers. Methods and analysis This protocol describes the design of a step-wedge cluster randomised pilot study. Six Aboriginal Medical Services (AMSs) are randomised into three clusters. Clusters receive the intervention staggered by 1 month. Health professionals report on their knowledge and skills pretraining and post-training and at the end of the study. Pregnant women are recruited and followed up for 3 months. The primary outcome is the recruitment rate of pregnant women. Secondary outcomes include feasibility of recruitment and follow-up of participating women, and webinar training of health professionals, measured using a designated log; and measures of effectiveness outcomes, including quit rates and NRT prescription rates. Ethics and dissemination In accordance with the Aboriginal Health and Medical Research Council guidelines, this study has been developed in collaboration with a Stakeholder and Consumer Aboriginal Advisory Panel (SCAAP). The SCAAP provides cultural consultation, advice and direction to
Knowledge of tuberculosis (TB) and human immunodeficiency virus (HIV) and perception about provider initiated HIV testing and counselling among TB patients attending health facilities in Harar town, Eastern Ethiopia.
Seyoum, Ayichew; Legesse, Mengistu
Tuberculosis (TB) and Human Immunodeficiency Virus (HIV) co-infection is one of the major health problems in Ethiopia. The national TB and HIV control guideline in Ethiopia recommends provider initiated HIV testing and counselling (PITC) as a routine care for TB patients. However, the impact of this approach on the treatment seeking of TB patients has not been well studied. In this study, we assessed knowledge of TB and HIV, and perception about PITC among TB patients attending health facilities in Harar town, Eastern Ethiopia. In a health facilities based cross-sectional study, a total of 415 study participants were interviewed about knowledge of TB and HIV as well as the impact of HIV testing on their treatment seeking behavior using a semi-structured questionnaires. Multivariable logistic regression analysis showed the association of distance > 10 km from health facility [adjusted odds ratio (AOR)=0.48, 95% CI: 0.24 - 0.97, P=0.042] with low knowledge of TB. Distance > 10 km from health facility (AOR= 0.12, 95% CI: 0.06 -0.23, P 10 km from health facility (AOR =0.46, 95% CI: 0.28 - 0.75, P=0.002). Most of the study participants (70%) believed that there is no association between TB and HIV/AIDS. On the other hand, two thirds (66.5%) of the participants thought that HIV testing has importance for TB patients. However, the majority (81.6%) of the study participants in the age category less than 21 years believed that fear of PITC could cause delay in treatment seeking. The study showed the association of low knowledge of the study participants about TB and HIV testing with distance > 10 km from health facility. Study participants in the age category less than 21 years thought that fear of PITC could cause treatment delay of TB patients. Hence, emphasis should be given to improve knowledge of TB and HIV among residents far away from health facility, and attention also needs to be given to improve the perception of individuals in the age group less than 21 years
Moore, Rebekah A; Matthews, Anne L; Cohen, Leslie
Social media is a common method of communication in people's personal lives and professional settings. Gallagher et al. (2016) recommended, "it is time for genetic counselors to embrace social media as a means of communicating with patients or other healthcare professionals." Full members of the National Society of Genetic Counselors (NSGC) in the USA and Canada and genetics patients in Cleveland, OH, were surveyed to determine interest in using social media for patient-provider interactions. Both cohorts indicated that patient privacy and confidentiality would be a concern; however, survey results indicated patients would be interested in using social media to receive general information about genetic counseling and to learn about genetics services. Genetic counselors indicated privacy issues were not concerning if social media were to be used in this capacity. The majority of genetic counselor participants (88.7%) indicated they would welcome national guidelines for patient-provider social media use. Data from this study demonstrated that sharing what to expect at a genetic counseling appointment, defining genetic counseling, and announcing community outreach events are possible ways genetic counselors could utilize social media to communicate with and educate patients.
Full Text Available Although the Reformation took place some four hundred years ago, one area in which reformation is really needed today is the counselling of people. Since Wilhelm Wundt started the “study of the mind” in 1879, William James and Sigmund Freud followed and secular psychology gradually has developed to take the “front seat”; hence moving Biblical counselling, which has been practised since the times of the New Testament, to the “back burner”. This development had been going on for the greater part of the 20th century, up to the publication of Competent to Counsel by Jay E. Adams in 1970. In the model for counselling suggested by Adams, the principles of the Reformation of the sixteenth century, Soli Deo Gloria, Soli Scriptura, Soli Fidei, Sola Gratia, etc. were again implemented in assisting and counselling people with personal and interpersonal problems. The epistomological and anthropological approach of secular psychology differs radically from that of Biblical principles, thus necessitating a new “reformation” of counselling. Within this new form counselling, inter alia, implies the following: the Word of God has its rightful place, sin has to be taken seriously and the work of the Holy Spirit should be recognised. In this article it is proposed that the “reformation” of counselling was started by scholars with a Biblical Reformational approach and that this method of counselling followed the parameters of the Reformation of the sixteenth century. This “reformation” developed into a new direction in counselling and still continues today with fascinating new frontiers opening up for Biblical counselling.
In the decade after World War II, psychologists, eager to bring the benefits of counseling to larger numbers, convinced hundreds of American colleges and universities to establish counseling centers. Inspired by the educational-vocational counseling center founded by psychologists at the University of Minnesota in 1932, Carl R. Rogers's "client-centered" methods of personal adjustment counseling, and the 400-plus college counseling centers created by the Veterans Administration to provide the educational-vocational counseling benefit promised to returning World War II servicemen under the 1944 GI Bill, these counseling psychologists created a new place to practice where important currents in psychology, higher education, and federal policy converged and where they attempted to integrate educational-vocational counseling with personal adjustment counseling based on techniques from psychotherapy. By the mid-1960s, half of America's colleges and universities had established counseling centers, and more than 90% offered students educational, vocational, and psychological counseling services, a great achievement of the first generation of counseling psychologists.
Bank, Mads; Nissen, Morten
The article articulates experiments with spatial constructions in two Danish social work agencies, basing on (a) a sketchy genealogical reconstruction of conceptualisations and uses of space in social work and counselling, (b) a search for theoretical resources to articulate new spaces, and (c...... spaces are forms of spatialisations which might be taken as prototypical in attempts to develop social work and counselling...
Søndergaard Jakobsen, Nina; Kaufmann, Lisbeth; Hennesser, Yvonne
Using cases and empirical data from a research and development project at a Danish prevention center, this study explores whether and how the use of narrative dietary counseling can strengthen dietitians' relationships and collaboration with clients who are chronically ill. The results of the study...... dietary counseling empowered clients and improved relationship building and collaboration between client and dietitian....
Calgary Univ. (Alberta).
University counseling centers usually follow one of a variety of themes or "models," although not in pure form. Perhaps the oldest is the vocational counseling model, which concentrates on helping students find suitable careers. In the psychotherapy model, most student concerns are seen for their personal content. Another model, student affairs…
Stadler, Holly A.
Responds to Wittman's previous article on counseling and marketing by questioning whether marketing is a justifiable means to a worthwhile end. Examines language of marketing, juxtaposes marketing and counseling metaphors to highlight conflicting philosophies, and concludes that counselors should not abandon philosophical traditions of their…
Woody, Robert Henley
Responds to earlier four articles on integration of counseling psychology and neuropsychology by noting that neuropsychology occurs in settings with high risk of legal complaints. Contends that aspiration to press counseling psychology toward clinical neuropsychology should be filtered through consideration for legal risk. Explores legal…
Jones, Gerald P.
Presents a brief historical context for today's changing popular and professional attitudes. Some current counseling procedures used with adolescent homosexuals are discussed. The legal aspects of counseling gay adolescents conclude the article, followed by an annotated bibliography of suggested reading. (Author)
Hanin Hamjah, Salasiah; Mat Akhir, Noor Shakirah
A religious approach is one of the matters emphasized in counseling today. Many researchers find that there is a need to apply the religious element in counseling because religion is important in a client's life. The purpose of this research is to identify aspects of the Islamic approach applied in counseling clients by counselors at Pusat Kaunseling Majlis Agama Islam Negeri Sembilan (PKMAINS). In addition, this research also analyses the Islamic approach applied in counseling at PKMAINS with reference to al-Quran and al-Sunnah. This is a qualitative research in the form of case study at PKMAINS. The main method used in this research is interview. The research instrument used is interview protocol. The respondents in this study include 9 counselors who serve in one of the counseling centers in Malaysia. This study also uses questionnaire as an additional instrument, distributed to 36 clients who receive counseling service at the center. The findings of the study show that the Islamic approach applied in counseling at PKMAINS may be categorized into three main aspects: aqidah (faith), ibadah (worship/ultimate devotion and love for God) and akhlaq (moral conduct). Findings also show that the counseling in these aspects is in line with Islamic teachings as contained in al-Quran and al-Sunnah.
Distrofia miotônica tipo 1 em pacientes com catarata: diagnóstico molecular para triagem e aconselhamento genético Myotonic dystrophy type 1 in cataract patients: Molecular diagnosis for screening and genetic counseling
María Verónica Muñoz Rojas
Full Text Available OBJETIVOS: Detectar novos pacientes portadores da mutação e pré-mutação da DM1, entre pacientes com catarata e realizar aconselhamento genético. MÉTODOS: Foi estudado o DNA de 60 pacientes, por meio da análise por reação em cadeia de polimerase. Este estudo foi realizado no Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto e os pacientes foram selecionados a partir dos atendimentos realizados no Ambulatório de Catarata do Departamento de Oftalmologia, entre 01/01/1982 a 30/06/1995. Os critérios de seleção foram pacientes com menos de 55 anos, com catarata bilateral, sem fator causal que justificasse a lesão, exceto por diabete melito tipo 2 com ou sem sinais neuromusculares sugestivos de distrofia miotônica. RESULTADOS: Foram encontrados 3 pacientes com a mutação completa, correspondendo a 5% da amostra. Nenhum portador da pré-mutação foi encontrado. A partir dos pacientes diagnosticados, outros familiares afetados foram detectados. CONCLUSÕES: Este estudo enfatiza a importância da triagem de distrofia miotônica tipo 1 (DM1 entre pacientes com catarata, e mostra, também, a importância do aconselhamento genético destes pacientes.PURPOSE: To detect MD1 premutation and full mutation carriers among cataract patients and offer familial genetic counseling. METHODS: We studied the DNA of 60 selected cataract patients through polymerase chain reaction analysis. This study was performed at the "Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto" where selected patients had been examined at the Cataract Outpatient Clinic from 01/01/1982 to 30/06/1995. Selection criteria were age under 55 with no obvious precipitating factor, except diabetes mellitus type 2, with or without neuromuscular signs suggestive of myotonic dystrophy. RESULTS: Three patients were found to have a full mutation corresponding to 5% of the group. Additional affected individuals were found among patients' relatives. No
Alnaqeb, Dhekra; Hamamy, Hanan; Youssef, Amira M; Al-Rubeaan, Khalid
This study aimed to assess knowledge, attitude and practice related to consanguinity among multiethnic health care providers in the Kingdom of Saudi Arabia. Using a cross-sectional study design, a validated, self-administered close-ended questionnaire was randomly distributed to health care providers in different health institutions in the country between 1st August 2012 and 31st July 2013. A total of 1235 health care providers completed the study questionnaire. Of the 892 married participants (72.23% of total), 11.43% were married to a first cousin, and were predominantly Arabs, younger than 40 years and male. Only 17.80% of the patients seen by the health care providers requested consanguinity related counselling. A knowledge barrier was expressed by 27.49% of the participants, and 85.67% indicated their willingness to have more training in basic genetic counselling. A language barrier was expressed as a limiting factor to counselling for consanguinity among non-Arabs. The health care providers had a major dearth of knowledge that was reflected in their attitude and practice towards consanguinity counselling. This finding indicates the need for more undergraduate and postgraduate medical and nursing education and training in the counselling of consanguineous couples. It is recommended that consanguinity counselling is included in the current premarital screening and counselling programmes in the Kingdom.