... have a high risk of having babies with Tay-Sachs or Canavan's disease. African-Americans, who may risk ... yours to make. Images Genetic counseling and prenatal diagnosis References Simpson JL, Holzgreve W, Driscoll DA. Genetic ...
Exceptional Parent, 1987
Information is presented on a number of tests used in genetic counseling (e.g., genetic evaluation, chromosome evaluation, consideration of multifactorial conditions, prenatal testing, and chorionic villus sampling) which help parents with one disabled child make family planning decisions. (CB)
Arnos, Kathleen S.
This article addresses epidemiologic and demographic characteristics of hereditary hearing loss and genetic evaluation and counseling. It discusses who should have genetic counseling, the genetic counseling process, and effects of genetics technology on the genetic counseling process. A case study of a 2-year-old with severe sensorineural hearing…
... Safe Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's in ... how can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...
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
Eddy, James M.; St. Pierre, Richard
Historically genetic counseling programs have not included strong educational components or sound educational foundations. This paper deals with some of the drawbacks of current genetic counseling programs and the implications for education in the genetic counseling process. The author adopts a broad definition of genetic counseling which…
Than, Nandor Gabor; Papp, Zoltan
Genetics has made great progress in the past decades, and prenatal diagnosis, predictive genetic testing, and genetic counseling have drawn the limelight of public attention. Because the subject of genetic counseling is of crucial consequence for both the short and long term, its ethical aspects are paramount. The question is whether mankind is mature enough to use this extraordinary knowledge in the right way for the benefit of the society. In the center of ethical questions is the comprehensiveness of information provided to the couples or patients and counseling them about results and making informed educated decisions. In addition, it is crucial how sensitive personal information is treated and whether and how it should be made public. Copyright © 2017. Published by Elsevier Ltd.
Carpenter, Pat; And Others
Presented are two papers from a panel discussion on prenatal diagnosis and genetic counseling with families. D. Blackston (director of the Developmental Evaluation Clinic, Decatur, Georgia) points out that a concise family history, pregnancy and birth data, developmental history, careful physical examination, and appropriate laboratory studies are…
A graduate program at Sarah Lawrence College is designed to bridge the gap between the medical community with its advanced knowledge of genetics and couples facing hereditary diseases or handicaps. The aim is to train these middle-level professionals to counsel couples. (LBH)
... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Jan 19,2018 ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...
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.
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
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.
... it if you Have a personal or family history of a genetic condition or birth defect Are pregnant or planning to be pregnant ... GO MEDICAL ENCYCLOPEDIA Genetic counseling Related Health Topics Birth Defects Family History Genetic Disorders Genetic Testing Prenatal Testing National Institutes ...
Making Sense of Your Genes a Guide to Genetic Counseling 1 A Guide to Genetic Counseling Contents What is genetic counseling? 1 Why might I ... methods contained in the material therein. Understanding Your Genes What is genetic counseling? The goal of genetic ...
Bodenhorn, Nancy; Lawson, Gerard
Special issue of the "Journal of Health Psychology" (Vol. 7, No. 2, 2002) was reviewed. Articles covered a variety of qualitative studies conducted using an interpretive phenomenological analysis method to examine the interviews with people who had received genetic testing and counseling. Implications for the broader counseling field…
Hockey, Athel; Bain, Jill
An approach combining social worker and geneticist expertise in adoption is outlined in the study involving 180 families. Genetic counseling has shown to be an essential safeguard to the preservation of the adoptive family unit. (Author/SW)
Fraser, George R.
The problem of counseling is dealt with mainly in the context of severe hearing impairment, since moderate forms are often due to illness or other nongenetic factors and do not constitute a grave handicap. (DLS)
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.
Stanislaw, Christine; Reyes, Eliana; Hussain, Sumaira; Cooley, Anne; Fernandez, Maria Catalina; Dauphin, Danielle D.; Michon, Sara-Claude; Andersen, Peter M.; Wuu, Joanne
Remarkable advances in our understanding of the genetic contributions to amyotrophic lateral sclerosis (ALS) have sparked discussion and debate about whether clinical genetic testing should routinely be offered to patients with ALS. A related, but distinct, question is whether presymptomatic genetic testing should be offered to family members who may be at risk for developing ALS. Existing guidelines for presymptomatic counseling and testing are mostly based on small number of individuals, clinical judgment, and experience from other neurodegenerative disorders. Over the course of the last 8 years, we have provided testing and 317 genetic counseling sessions (including predecision, pretest, posttest, and ad hoc counseling) to 161 first-degree family members participating in the Pre-Symptomatic Familial ALS Study (Pre-fALS), as well as testing and 75 posttest counseling sessions to 63 individuals with familial ALS. Based on this experience, and the real-world challenges we have had to overcome in the process, we recommend an updated set of guidelines for providing presymptomatic genetic counseling and testing to people at high genetic risk for developing ALS. These recommendations are especially timely and relevant given the growing interest in studying presymptomatic ALS. PMID:27194384
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 ...
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: https://www.ias.ac.in/article/fulltext/jbsc/040/02/0217-0220. Keywords. Genetic ...
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…
The value of genetic counseling for prospective parents with visual impairments is discussed. Work in genetic counseling is reviewed and the types of monitoring services available are explored. The development of genetics, and the kinds of genetic disorders, as well as the importance of genetic counseling, are described. (PHR)
The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…
Hodgkinson, Kathleen A; Murphy, Jillian; O’Neill, Sheri; Brzustowicz, Linda; Bassett, Anne S
Objective To review the role of genetic counselling for individuals with psychiatric illnesses. Method Using schizophrenia as an example and including updated information about a genetic subtype (22q deletion syndrome), we discuss the value of the genetic counselling process in psychiatry, with support from the literature and our clinical experience. Results Genetic counselling, the process through which knowledge about the genetics of illnesses is shared, provides information on the inheritance of illnesses and their recurrence risks; addresses the concerns of patients, their families, and their health care providers; and supports patients and their families dealing with these illnesses. For comprehensive medical management, this service should be available to all individuals with schizophrenia and their families. Conclusions New findings in the genetics of psychiatric illness may have important clinical implications for patients and their families. PMID:11280080
P.G. Frets; F. Verhage
textabstractThe main aims of the studies described in this thesis were to monitor the transfer of information during genetic counseling and to investigate the adequacy of the existing strategies for supporting counselees in their decision-making process, and if necessary, to devise new strategies.
Michie, Susan; McDonald, Valerie; Marteau, Theresa M.
A questionnaire was sent to counselors (N=32) to categorize the key points given in genetic counseling; to assess the amount and type of information recalled; and to examine the relationships between counselees' knowledge, satisfaction with information received, the meeting of expectations, concern, and anxiety. Results emphasize the importance of…
... Medical Options Talking to Family Family Stories Diseases Genetic Counseling for Hereditary Breast and Ovarian Cancer Recommend on ... inherited mutation, your doctor may refer you for genetic counseling. Understanding and dealing with a strong family health ...
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
Inglis, Angela; Morris, Emily; Austin, Jehannine
Psychiatric disorders like schizophrenia, bipolar disorder, depression, anxiety, and obsessive-compulsive disorder are common disorders with complex aetiology. They can exact a heavy toll on the individual with the condition and can have significant impact on family members too. Accordingly, psychiatric disorders can arise as a concern in the prenatal context - couples may be interested in learning about the chance for their child to develop the illness that manifests in the family and may be interested in discussing options for prenatal testing. However, the complex nature of these conditions can present challenges for clinicians who seek to help families with these issues. We established the world's first specialist genetic counselling service of its kind in Vancouver, Canada, in 2012, and to date, have provided counselling for ~500 families and have demonstrated increases in patients' empowerment and self efficacy after genetic counselling. We draw on our accumulated clinical experience to outline the process by which we approach prenatal genetic counselling for psychiatric disorders to assist other clinicians in providing thoughtful, comprehensive support to couples seeking out this service. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.
Murphy, Robert X; Adkinson, Joshua M; Namey, Tara; Eid, Sherrine; Bleznak, Aaron
Risk assessment evaluation and breast cancer (BRCA) testing can occur in situations where a woman considers herself to be at increased risk for developing breast cancer or her physicians, either during routine evaluation or after diagnosis of unilateral breast cancer, consider her to be at risk for harboring a genetic predisposition to breast malignancy. This study examined the impact of risk assessment counseling on trends in breast surgery and cost of care. A retrospective chart review was performed from January 1, 1999 to December 31, 2008 for women older than 18 years who underwent breast surgery for malignancy or prophylaxis, had at least 1-year follow-up, and underwent genetic counseling. From the total number of women treated at our institution who underwent unilateral or bilateral mastectomy, we identified 102 women who underwent genetic counseling and selected 199 patients who did not undergo counseling to create a 4:1 retrospective case-control study. Patients who underwent BRCA gene testing and/or counseling were compared with patients who did not (controls). The study was powered at 70%, and alpha was set at 0.05. Counseled patients were >9 times more likely to undergo bilateral mastectomies (odds ratio = 9.18). They were younger (46.4 vs. 61.8) and incurred higher total costs ($10,810 vs. $7,266) (P breasts), 78 (92%) breasts were reconstructed, whereas 113 (49%) of 230 breasts were reconstructed in the control group. There was a statistically significant association between counseling with BRCA testing and decision to undergo bilateral as opposed to unilateral mastectomies. Younger women were also more likely to choose bilateral mastectomies whether or not they underwent counseling. Furthermore, a greater proportion of counseled women who underwent reconstruction opted to have bilateral implants. At our institution, younger women tend to choose costlier options.
of cancer prevention. However, genetic testing raises a lot of ethical issues as it is only ethical and useful if combined with counseling and implementation of risk .... Type of diet. Yes. 496 (52.6). No. 447 (47.4). Exposure to radiation. Yes. 636 (67.4). No. 307 (32.6). Superstitious beliefs. Yes. 109 (11.6). No. 834 (88.4).
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 ...
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 ...
van Zuuren, F. J.; van Schie, E. C. M.; van Baaren, N. K.
Clients seek genetic counseling to become informed, make better decisions, and to be reassured. Genetic knowledge, however, involves uncertainty. Genetic information conveyed in 30 counseling sessions was studied for its predictability, controllability and novelty (unexpected findings). The interrelationship of unpredictability, uncontrollability,…
Krausz, Csilla; Chianese, Chiara
Genetic disorders can be identified in about 15% of cases of male infertility. With the widespread application of assisted reproductive technology, infertile patients are now given the possibility of having their biological children; however, a genetic risk exists for assisted reproductive technology-born offspring, implying the necessity for future parents to be appropriately informed about potential consequences. In this review, we provide current recommendations on clinical genetic testing and genetic counselling. New insights are presented concerning Klinefelter syndrome, X and Y chromosome-linked deletions, monogenic diseases and pharmacogenetics. As for Klinefelter patients, novel preventive measures to preserve fertility have been proposed although they are not yet applicable in the routine setting. Y-chromosome deletions have both diagnostic and prognostic values and their testing is advised to be performed according to the new European Academy of Andrology/European Molecular Genetics Quality Network guidelines. Among monogenic diseases, major advances have been obtained in the identification of novel genes of hypogonadotrophic hypogonadism. Pharmacogenetic approaches of hormonal treatment in infertile men with normal values of follicle-stimulating hormone (FSH) are promising and based on FSHR and FSHB polymorphisms. X chromosome-linked deletions are relevant for impaired spermatogenesis. In about 40% of male infertility, the cause is unknown and novel genetic factors are expected to be discovered in the near future.
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.
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.
Burgess, Kelly R; Carmany, Erin P; Trepanier, Angela M
Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors' perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8%) of the 88 tasks studied. The tasks identified as most different in TGC were: "establishing rapport through verbal and nonverbal interactions" (60.2%; 50/83 respondents identified the task as different), "recognizing factors affecting the counseling interaction" (47.8%; 32/67), "assessing client/family emotions, support, etc." (40.1%; 27/66) and "educating clients about basic genetic concepts" (35.6%; 26/73). A slight majority (53.8%; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.
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.
Stenehjem, David D; Au, Trang; Sainski, Amy M; Bauer, Hillevi; Brown, Krystal; Lancaster, Johnathan; Stevens, Vanessa; Brixner, Diana I
Genetic counseling by a Genetic Counselor (GC) is a requirement prior to genetic testing for cancer susceptibility genes (GC-mandate policy) for some insurers. This study evaluated the impact of this policy from the patient perspective. Surveys were sent to individuals for whom their insurer ordered genetic testing for the cancer susceptibility genes BCRA1 and BRCA2 over a 1 year time period that spanned the introduction of a GC-mandate policy. Responses were assessed by time period (before/after policy introduction) and genetic test completion. The surveys were completed by 1247/4950 (25.7%) eligible individuals. After policy introduction, there was no change in the proportion of respondents who completed genetic testing (p = 0.13) or had a mutation (p = 0.55). Overall decisional conflict (uncertainty or feeling uninformed) around genetic testing did not change after policy introduction (p = 0.16), but was significantly higher among respondents who did not complete genetic testing (p test results (p tested after policy introduction or who did not complete genetic testing (p testing. A GC-mandate policy did not improve decisional conflict or increase the number of deleterious mutations identified and low-income respondents were less likely to complete testing. On the contrary, insurance requirements and time constraints may be preventing individuals at risk from receiving appropriate testing.
This article focuses on how occupational roles and working relationships have changed over time for individuals involved in genetic counselling in Canada. It begins with a review of the stages of consensus that were reached about a role for geneticists and genetic counselling in clinical settings and, second, the formation of medical genetics as a service specialism. Interviews conducted by the author and survey data collected by the Canadian Association of Genetic Counsellors/L'Association Canadienne des Conseillers en Génétique are then used to examine role divarication in genetic counselling and the boundary realignment in inter-professional relations among physician and non-physician genetic counsellors. This leads, in a final step, to a summary of what the research shows about the changing face of genetic counselling in Canada and directions for future investigation.
Brown, Shelby; Puumala, Susan; Leonhard, Jennifer; Bell, Megan; Flanagan, Jason; Dean, Lori Williamson; Stein, Quinn
While traditional components of genetic counseling sessions are well recognized, less is known about insurance and financial discussions. This study sought to examine "genesurance counseling" which we defined as: that portion of a genetic counseling session, whether intentional or non-intentional, that is devoted to the topic of costs and insurance/third party coverage (particularly for genetic testing). Our objective was to assess genetic counselors' practices and perspective related to genesurance counseling. A survey link was sent by e-mail to members of the National Society of Genetic Counselors (approximately 3100 NSGC members). A total of 571 genetic counselors participated in the survey of which 550 identified as clinical genetic counselors. Survey data were used to investigate differences between specialties, impact on patient rapport, changes in practice dynamics, and devotion of clinic time. Overwhelmingly, 99% of participants acknowledged conducting genesurance counseling, 87% believed it to be part of their job description, and 85% viewed it as an important aspect of genetic counseling. On average, respondents estimated they devoted 10% of their session, or 6 min, to genesurance counseling. Of the surveyed participants, 95% reported genesurance counseling as having some form of influence in a patient's decision regarding genetic testing, and 74% stated that genesurance counseling concerns change the practice and dynamic of their clinic. "Genesurance counseling" is not a topic which has been studied to date. Our study highlights the changes in genetic counselors' roles and responsibilities regarding insurance and financial counseling.
Barr, Jennieffer A; Tsai, Lily P; Welch, Anthony; Faradz, Sultana M H; Lane-Krebs, Katrina; Howie, Virginia; Hillman, Wendy
To examine current practice of genetic counselling by nurses. Recent debate argues that genetic counselling is a specialist advanced practice role, whilst others argue it is the role of all nurses. Current evidence is required to determine if genetic counselling could be included in all nurses' scope of practice. Integrative literature review. A search of electronic databases (CINHAL, Medline, PubMed, Scopus), and reference lists published between January 2012 and March 2017, was undertaken. Studies were critically appraised for methodological quality using the Critical Appraisal Skills Programme. Data from each study were extracted and categorized according to their primary findings. The inclusion criteria were met in 10 studies. Main findings were identified: role of genetic counselling, current knowledge, need for further education, and client satisfaction with nurse genetic counsellors. This paper concludes that some nurses do engage in genetic counselling, but how they engage is not consistent, nor is there consensus about what should be the scope of practice. Further investigation into credentialing, role recognition support and education for nurse genetic counselling are strongly recommended. As nurses are widely available, nurses can make a significant contribution to supporting those affected by genetic problems. © 2018 John Wiley & Sons Australia, Ltd.
Provides a protocol for counseling families with an autistic member concerning the risk of having an autistic child. Reports data regarding empirical recurrence risks and identifies the key elements that influence recurrence risks for individual couples. Counseling expertise in both diagnosis and treatment of autism and in the genetics of complex…
Yuka Mizusawa, MD
This article discusses indications for genetic testing of patients with inherited arrhythmias. Further, it describes the benefits and challenges that we face in the era of next generation sequencing. Finally, it briefly discusses genetic counseling, in which a multidisciplinary approach is required due to the increased complexity of the genetic information related to inherited arrhythmias.
Biological Sciences Curriculum Study Journal, 1980
Described is the BSCS Center for Education and Medical Genetics project, designed to examine the treatment of ethical issues in the genetic counseling process and to develop and evaluate a model instructional program from increasing the ability of genetic counselors to recognize and deal with ethical problems. (Author/DS)
Pollak, Shulamis Juni
One hundred and thirty-six Orthodox Jews responded to questions about their family background, disability attitudes, and their participation in genetic counseling and testing. Findings showed that only birth order and the presence of a disabled family member correlated with increased chances of an individual going for genetic counseling/testing. Results are discussed in the context of the contemporary sociology of Orthodox Judaism, with a particular focus on better understanding the experience of having a disabled family member.
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
Morris, Megan; Glass, Merlyn; Wessels, Tina-Marié; Kromberg, Jennifer G R
Genetic counselling is offered in diverse settings, and patient reactions vary due to differences in personal, family and community beliefs, local healthcare settings, as well as cultural background. Together, these factors influence how individuals experience genetic counselling. This study aimed to describe and document the experiences of thirteen mothers, with children with Down syndrome, oculocutaneous albinism or haemophilia B, who had received genetic counselling at state hospitals in Johannesburg, South Africa. A qualitative research design drawing on principles of Interpretative Phenomenological Analysis was used. Four voice-recorded focus groups were conducted and the resulting data were analysed using thematic content analysis. Five themes were identified in the data: thrown into the unknown; a worthwhile experience; a break in communication; telling the family and the community; and spreading the word. It was seen that genetic counselling cannot be viewed as a singular experience, but rather as one which is influenced by mothers' lived experiences and their interactions with other healthcare services, family and community members. The results from this study showed that genetic services and conditions were poorly understood, that the experience of genetic counselling varied amongst mothers, and on-going patient support is needed particularly when addressing family and community members. Further research is needed to assess what information is valuable to individuals during genetic counselling and how to deliver this information in a contextually appropriate manner. Greater awareness of genetic conditions is also required amongst communities and healthcare professionals. Valuable insight was gained from this study which can be used to improve local training programmes and genetic counselling services in Johannesburg, and in South Africa.
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.
Genetic testing, which reveals germline mutations, is extremely important for HBOC patients and their families. The evolution of this field has created a need for accurate cancer genetic counseling and risk assessment. Prevention and early therapy are possible in HBOC. If a patient has BRCA1 or BRCA2 mutations, the at-risk relatives should receive the information through genetic counseling. Genetic counseling provides not only information but also psychological and social support so that the patient or subject can autonomously decide. Clinical practice for the treatment of HBOC needs a multidisciplinary network that includes clinical geneticists, breast cancer surgeons, and ovarian cancer surgeons. Thus, the Japan Society of Human Genetics, Japan Breast Cancer Society, and Japan Society of Obstetrics and Gynecology established a new corporation named Japanese Organization of HBOC(JOHBOC)for a HBOC comprehensive medical care system.
Eijzenga, W.; Bleiker, E.M.A.; Hahn, D.E.E.; van der Kolk, L.E.; Sidharta, G.N.; Aaronson, N.K.
Only a minority of individuals who undergo cancer genetic counseling experience heightened levels of psychological distress, but many more experience a range of cancer genetic-specific psychosocial problems. The aim of this study was to estimate the prevalence of such psychosocial problems, and to
Goodenberger, McKinsey L; Thomas, Brittany C; Wain, Karen E
The number of available genetic testing options and the nuances associated with these options continue to expand. In addition, the scope of genetic testing has broadened to areas and specialties beyond Medical Genetics. In response to these changes, diagnostic laboratories have employed genetic counselors to help navigate the increasing complexity of genetic testing, given their expertise and training in human genetics. However a largely unrecognized aspect of this role involves the use of counseling skills. Counseling skills are used by laboratory genetic counselors in a variety of situations to convey information and facilitate understanding among clinicians and medical staff. This helps to reduce test ordering errors, promote optimal test utilization, and ensure best patient care practices. The specific counseling skills used by laboratory counselors will be explored using three fictional case vignettes, followed by a discussion of the applicability of these skills in other contexts. Exploration of the unique ways in which laboratory genetic counselors apply their counseling skills can be useful for professional development and instructive for graduate training programs.
Boughman, Joann A.; Shaver, Kathleen A.
An understanding of the genetic concepts applicable to individual cases of deafness, as well as an appreciation of the complex nature of determinaton of recurrence risks in families, will facilitate the referral of individuals and families for genetic evaluation and counseling. (Author)
Schlichte, John E.
Intended for use by the public as well as by medical professionals and related service agencies, the booklet presents genetic counseling as a means of providing information to deal with genetic disorders in general and mongolism (Down's syndrome) in particular. Characteristics of mongolism and possible emotional effects on the family of a…
... Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic Careers National DNA Day Online Education Kit Online Genetics Education Resources Smithsonian NHGRI Genome Exhibition Talking Glossary: English Talking Glossary: Español Issues Coverage & Reimbursement of Genetic ...
Eijzenga, W; Bleiker, E M A; Hahn, D E E; Van der Kolk, L E; Sidharta, G N; Aaronson, N K
Only a minority of individuals who undergo cancer genetic counseling experience heightened levels of psychological distress, but many more experience a range of cancer genetic-specific psychosocial problems. The aim of this study was to estimate the prevalence of such psychosocial problems, and to identify possible demographic and clinical variables associated significantly with them. Consenting individuals scheduled to undergo cancer genetic counseling completed the Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire, the Hospital Anxiety and Depression Scale (HADS) and the Distress Thermometer (DT) prior to or immediately following their counseling session. More than half of the 137 participants reported problems on three or more domains of the PAHC, most often in the domains 'living with cancer' (84%), 'family issues' (46%), 'hereditary predisposition' (45%), and 'child-related issues' (42%). Correlations between the PAHC, the HADS and the DT were low. Previous contact with a psychosocial worker, and having a personal history of cancer were associated significantly with HADS scores, but explained little variance (9%). No background variables were associated significantly with the DT. Previous contact with a psychosocial worker, and having children were significantly associated with several PAHC domains, again explaining only a small percentage of the variance (2-14%). The majority of counselees experience specific cancer genetic counseling-related psychosocial problems. Only a few background variables are associated significantly with distress or psychosocial problems. Thus we recommend using the PAHC or a similar problem-oriented questionnaire routinely in cancer genetic counseling to identify individuals with such problems.
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...
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.
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 recommendation ...
Regier, Debra S; Ferreira, Carlos R; Hart, Suzanne; Hadley, Donald W; Muenke, Maximilian
Review of genetics in the United States with emphasis on the prenatal, metabolic, genetic counseling, and training aspects of the field. © 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
Zierhut, Heather A; MacFarlane, Ian M; Ahmed, Zahra; Davies, Jill
In 2009, the National Society of Genetic Counselors Service (NSGC) Delivery Model Task Force defined genetic counseling service delivery models including telephone (genetic counseling provided remotely by telephone) and telegenetics (counseling provided remotely using videoconferencing). Little is known about the experience of genetic counselors practicing telemedicine in the USA. We sought to evaluate perceived satisfaction, advantages, disadvantages, and barriers to the practice and implementation of telegenetics by practicing genetic counselors. A 21-question online survey was distributed via the NSGC's member directory. Descriptive statistics and a thematic analysis were used to analyze data. A total of 344 surveys were completed of which 235 (68.3%) respondents had delivered genetic counseling via telemedicine and 109 (36.6%) had not. Overall genetic counseling providers who had provided telegenetics were satisfied or very satisfied with their position (91%) and those who were not performing telegenetics were at least slightly interested in a telehealth position (92%).The most common appealing reasons for working in or wanting to work in telemedicine included an innovative approach to healthcare delivery, aspects of remote positions such as the ability to work from home, and flexibility of hours. Unappealing characteristics of telemedicine included the inability to see nonverbals, limited psychosocial counseling, and limited social interaction with colleague that is associated with remote positions. Barriers to implementation of telegenetics were noted by 53% of respondents with the largest barrier being billing and reimbursement. The results of this work suggest that telegenetics service organizations could consider increasing social interactions, attempting to use the preferred method of care (video) to increase ability to see nonverbals, offering flexible work hours, and allowing time to address psychosocial issues as they arise in consultations.
Collet, Gaëlle; Parodi, Nathalie; Cassinari, Kevin; Neviere, Zoe; Cohen, Fanny; Gasnier, Céline; Brahimi, Afane; Lecoquierre, François; Thery, Jean-Christophe; Tennevet, Isabelle; Lacaze, Elodie; Berthet, Pascaline; Frebourg, Thierry
One of the main challenges in cancer genetics is responding to the exponential demand for genetic counseling, especially in patients with breast and/or ovarian cancer. To address this demand, we have set up a new procedure, based on pre-genetic counseling telephone interviews (PTI) followed by routing of patients: D1, a PTI is scheduled within 14 days; D7-D14, genetic counselors perform a 20 min PTI in order to establish a pre-genetic counseling file, by collecting personal and family medical history via a structured questionnaire and; D10-17, routing: pre-genetic counseling appointment files are analyzed by a cancer geneticist with 3 possible conclusions: (a) priority face-to-face genetic counseling (FTFGC) appointment with a cancer geneticist, if the genetic test results have an immediate therapeutic impact; (b) non-priority FTFGC with a genetic counselor, or (c) no FTFGC required or substitution by a more appropriate index case. In the context of breast and/or ovarian cancer, 1012 patients received PTIs, 39.1% of which did not lead to FTFGC. The mean delay for non-priority FTFGC was maintained at 18 weeks and priority FTFGC appointments were guaranteed within 8 weeks. The required resources for 1012 patients was estimated at 0.12 FTE secretaries, 0.62 FTE genetic counselors and 0.08 FTE cancer geneticists and the procedure was shown to be cost-effective. This new procedure allows the suppression of up to 1/3 of appointments, guarantees priority for appointments with therapeutic impact and optimizes the interaction and breakdown of tasks between genetic counselors and cancer geneticists.
Besser, Andria G; Mounts, Emily L
The evolution of preimplantation genetic screening (PGS) for aneuploidy to blastocyst biopsy and more sensitive 24-chromosome screening techniques has resulted in a new diagnostic category of PGS results: those classified as mosaic. This diagnosis presents significant challenges for clinicians in developing policies regarding transfer and storage of such embryos, as well as in providing genetic counselling for patients prior to and following PGS. Given the high frequency of mosaic PGS results and the wide range of possible associated outcomes, there is an urgent need to understand how to appropriately counsel patients regarding such embryos. This is the first commentary to thoroughly address pre- and post-test genetic counselling recommendations, as well as considerations regarding prenatal screening and diagnosis. Current data on mosaic PGS results are summarized along with embryo selection considerations and potential outcomes of embryos diagnosed as mosaic. Copyright © 2017 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
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.
Zhang, Yuan-Zhi; Zhong, Nanbert
The emphases and basic procedures of genetic counseling are all different with those in old models. In the psychotherapeutic model, genetic counseling will not only focus on counselees' genetic disorders and birth defects, but also their psychological problems. "Client-centered therapy" termed by Carl Rogers plays an important role in genetic counseling process. The basic procedures of psychotherapeutic model of genetic counseling include 7 steps: initial contact, introduction, agendas, inquiry of family history, presenting information, closing the session and follow-up.
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.
Chiò, Adriano; Battistini, Stefania; Calvo, Andrea; Caponnetto, Claudia; Conforti, Francesca L; Corbo, Massimo; Giannini, Fabio; Mandrioli, Jessica; Mora, Gabriele; Sabatelli, Mario; Ajmone, Clara; Mastro, Enza; Pain, Debora; Mandich, Paola; Penco, Silvana; Restagno, Gabriella; Zollino, Marcella; Surbone, Antonella
The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle genetic counselling and testing both for ALS patients and their relatives. On the basis of existing literature on genetics of ALS and of other late-onset life-threatening disorders, we propose clinical suggestions to enable neurologists to provide optimal clinical and genetic counselling to patients and families. Genetic testing should be offered to ALS patients who have a first-degree or second-degree relative with ALS, FTD or both, and should be discussed with, but not offered to, all other ALS patients, with special emphasis on its major uncertainties. Presently, genetic testing should not be proposed to asymptomatic at-risk subjects, unless they request it or are enrolled in research programmes. Genetic counselling in ALS should take into account the uncertainties about the pathogenicity and penetrance of some genetic mutations; the possible presence of mutations of different genes in the same individual; the poor genotypic/phenotypic correlation in most ALS genes; and the phenotypic pleiotropy of some genes. Though psychological, social and ethical implications of genetic testing are still relatively unexplored in ALS, we recommend multidisciplinary counselling that addresses all relevant issues, including disclosure of tests results to family members and the risk for genetic discrimination.
Cohen, Paul A; Nichols, Cassandra B; Schofield, Lyn; Van Der Werf, Steven; Pachter, Nicholas
The objectives of this work were to determine the proportion of eligible patients with ovarian cancer discussed at a gynecologic oncology tumor board who were referred for counseling and BRCA mutation testing; to compare referral rates before genetics attendance at the tumor board to referral rates after genetics attendance; and to ascertain the proportions of women with germline BRCA mutations. Eligible cases were identified from the minutes of the weekly Western Australian gynecologic oncology tumor board from July 1, 2013 to June 30, 2015.Patients with ovarian cancer who met eligibility criteria for genetics referral were identified and checked against the records of the genetic services database to ascertain whether a referral was received. Outcomes including attendance for counseling and results of mutation testing were analyzed. Two hundred sixty-one patients were eligible for referral during the 24-month study period. One hundred six patients (40.6%) were referred for counseling and germline mutation testing. Of the eligible patients, 26.7% were referred in the 12 months before genetics attendance at the tumor board compared to 51.7% of the eligible patients in the 12 months after genetics attendance (P ≤ 0.0001). Ninety-seven patients were offered BRCA mutation testing, and 73 underwent testing with 65 results reported to date. Twenty-two patients (33.8 %) tested positive for a germline BRCA mutation. Patients with ovarian cancer had a high rate of BRCA mutations. Attendance of a genetics service at a tumor board was associated with an improved rate of referral of patients for genetic counseling and BRCA mutation testing.
Cicero, G; De Luca, R; Dorangricchia, P; Lo Coco, G; Guarnaccia, C; Fanale, D; Calò, V; Russo, A
Oncological Genetic Counselling (CGO) allows the identification of a genetic component that increases the risk of developing a cancer. Individuals' psychological reactions are influenced by both the content of the received information and the subjective perception of their own risk of becoming ill or being a carrier of a genetic mutation. This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer. The aim of the study was to examine the relation between their cancer risk perception and the genetic risk during CGO before receiving genetic test results, considering the influence of some psychological variables, in particular distress, anxiety and depression. Participants completed the following tools during a psychological interview: a socio-demographic form, Cancer Risk Perception (CRP) and Genetic Risk Perception (GRP), Hospital Anxiety and Depression Scale (HADS) and Distress Thermometer (DT). The data seem to confirm our hypothesis. Positive and significant correlations were found between the observed variables. Moreover, genetic risk perception determined an increase in depressive symptomatology and cancer risk perception led to an increase in anxious symptomatology, specifically in participants during cancer treatment. The present results suggest the importance of assessing genetic and cancer risk perception in individuals who undergo CGO, to identify those who are at risk of a decrease in psychological well-being and of developing greater psychological distress.
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.
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…
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.
May 9, 2011 ... Original Research: Uptake of genetic counselling services by patients with cystic fibrosis and their families. 250. Vol 54 No 3. S Afr Fam Pract 2012. Introduction. Cystic fibrosis (CF) is a chronic, inherited disorder that affects the respiratory tract, pancreas, gastrointestinal system, exocrine sweat glands, and ...
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…
Roter, D. L.; Erby, L. H.; Hall, J. A.; Larson, S.; Ellington, L.; Dudley, W.
Purpose: This study aims to explore the role of interactants' nonverbal sensitivity, anxiety and sociodemographic characteristics in learning and satisfaction within the genetic counseling context. Design/methodology/approach: This is a combined simulation and analogue study. Simulations were videotaped with 152 prenatal and cancer genetic…
Chapple, Alison; Campion, Peter; May, Carl
An ethnographic study of families (N=30) receiving genetic counseling explored participants' perceptions of the process. Focuses on respondents' confusion about the meaning of medical terms. Although clients approved of the way information was presented, terminology was often confusing or frightening. Specific examples are presented and discussed.…
Pennacchini, M; Pensieri, C
In 2007, over 560,000 genetic tests were performed in Italy. However, only 70,154 genetic counseling sessions were conducted. Some say that non-directive counseling is necessary so that the patient understands the test results and the different options available and that the physician should not influence the patient's free choice. We need to clarify the meaning of non-directive consultation and if it is in fact possible. Each doctor has his own values and, in order to achieve the intended purpose, he will give information that, with his verbal, para-verbal and body language will guide the patient to one decision or another. Taking into account the axiom of effective communication "You can't NOT communicate", non-directive counseling is very difficult or even impossible. In genetic counseling, the knowledge that the patient receives of the correct diagnosis and related medical facts and of the applicable genetic considerations is basic to the entire process. Nonetheless, such knowledge in itself is not sufficient if it cannot be appropriately imparted to the interested person or persons. We think "persuasion" is not the right method, but instead "convince" meaning "co-win", "win together" may be the best approach to a problem of such great importance. The counselor will have achieved the desired goal with his patient if he is able to channel the emotion towards a mutually beneficial objective. The primary goal is not to persuade but to win-together (convince) with the patient and the unborn child.
Pagon, Roberta A.
Detection and counseling of individuals with genetic eye disorders may reduce morbidity by preventing unnecessary visual loss, by reducing misunderstanding, apprehension, and fear; by facilitating early diagnosis of other medical disorders; and by referring patients for appropriate educational and vocational training. (Author/SBH)
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.
.... Cross- sectional and longitudinal studies examined factors influencing interest in and readiness to undergo genetic testing, whether genetic counseling increased knowledge, and the psychosocial impact of DNA testing...
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
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.
Redlinger-Grosse, Krista; Veach, Patricia McCarthy; Cohen, Stephanie; LeRoy, Bonnie S; MacFarlane, Ian M; Zierhut, Heather
The need for evidence-based medicine, including comparative effectiveness studies and patient-centered outcomes research, has become a major healthcare focus. To date, a comprehensive list of genetic counseling outcomes, as espoused by genetic counselors, has not been established and thus, identification of outcomes unique to genetic counseling services has become a priority for the National Society of Genetic Counselors (NSGC). The purpose of this study was to take a critical first step at identifying a more comprehensive list of genetic counseling outcomes. This paper describes the results of a focus group study using the Reciprocal-Engagement Model (REM) as a framework to characterize patient-centered outcomes of genetic counseling clinical practice. Five focus groups were conducted with 27 peer nominated participants who were clinical genetic counselors, genetic counseling program directors, and/or outcomes researchers in genetic counseling. Members of each focus group were asked to identify genetic counseling outcomes for four to five of the 17 goals of the REM. A theory-driven, thematic analysis of focus group data yielded 194 genetic counseling outcomes across the 17 goals. Participants noted some concerns about how genetic counseling outcomes will be measured and evaluated given varying stakeholders and the long-term nature of genetic concerns. The present results provide a list of outcomes for use in future genetic counseling outcomes research and for empirically-supported clinical interventions.
Cura, Jonathan Diego
Family cohesiveness provides a unique cultural influence in the observance and expression of autonomy in terms of Filipino patients' decision making. With genetic counseling yet in its dawning practice in the Philippines, healthcare professionals (i.e., geneticists, practitioners) practicing genetic counseling and students in the pioneering genetic counseling program face the challenge of how to provide culturally appropriate measures in respecting Filipinos' autonomy. There is much deliberation with respect to identifying autonomous decision making among Filipino patients as counselees in genetic counseling. Cultural values influence how autonomy and bioethical principles are upheld. In a culturally-appropriate manner of identifying who makes health care and genetic counseling decisions, the sole focus on an individualistic perspective may be too western-based and may render genetic counseling less effective. The uniquely important cultural feature of family cohesiveness necessitates its incorporation into the practice of genetic counseling in the Philippines.
Katki, Hormuzd A
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 ...
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
Albada, Akke; van Dulmen, Sandra; Spreeuwenberg, Peter; Ausems, Margreet 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
Petersen, G M; Brensinger, J D; Johnson, K A; Giardiello, F M
The discovery of genes responsible for inherited forms of colorectal cancer have the potential to improve cancer risk assessment and counseling. Germline mutations (nonsense, frameshift) of APC are associated with familial adenomatous polyposis, an autosomal dominant syndrome, clinically characterized by young onset, hundreds of adenomatous polyps in the colon, and increased risk for extracolonic tumors. Mutations in APC are also associated with forms of attenuated familial adenomatous polyposis. Germline mutations in five mismatch repair related genes (hMSH2, hMLH1, hMSH6, hPMS1, and hPMS2) cause hereditary nonpolyposis colorectal cancer and are associated with increased risk of somatic genetic alterations and high DNA microsatellite instability. Hereditary nonpolyposis colorectal cancer is characterized by young onset colorectal cancer, proximal colon location, and increased risk of extracolonic cancers. A missense mutation in APC (I1307K) is associated with some familial colorectal cancer in Ashkenazic Jews. For persons at risk for hereditary forms of colorectal cancer, testing algorithms and gene test interpretations depend on identification of the pedigree germline gene mutation. Careful evaluation of the kindred for characteristic aggregation of tumor types among affected individuals and the availability of affected persons for testing are important issues in implementing genetic testing and follow-up management. Case reports illustrate the importance of genetic counseling as a component of cancer genetic risk assessment. The genetic counseling process includes exploration of patient risk perception, sources of anxiety related to cancer risk, patient education (specific cancer-related issues, prevention/intervention options), discussion of possible gene test options, test limitations, and consequences of various gene test outcomes.
Pustilnick, Renato; Correia-Neto, Jorge S.; Vilar, Guilherme
This study describes the development of a learning process of genetic counseling and basic genetics using an e-learning model and its application to a group of psychologists in the state of Parana in southern Brazil. The aim was to analyze the impact on the increase of knowledge in the presented subjects and the possibility of applying this…
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
Li, L; Qiu, L; Wu, M
Objective: To analyze patients' tendency towards genetics counseling and tests based on a prospective cohort study on hereditary ovarian cancer. Methods: From February 2017 to June 2017, among 220 cases of epithelial ovarian cancer in Peking Union Medical College Hospital, we collected epidemiological, pathological and tendency towards genetics counseling and tests via medical records and questionnaire.All patients would get education about hereditary ovarian cancer by pamphlets and WeChat.If they would receive further counseling, a face to face interview and tests will be given. Results: Among all 220 patients, 10 (4.5%) denied further counseling.For 210 patients receiving genetic counseling, 170 (81%) accepted genetic tests.In multivariate analysis, risk factors relevant to acceptance of genetic tests included: being charged by physicians of gynecologic oncology for diagnosis and treatment, receiving counseling in genetic counseling clinics, and having family history of breast cancer.For patients denying genetic tests, there were many subjective reasons, among which, "still not understanding genetic tests" (25%) and "unable bear following expensive targeting medicine" . Conclusions: High proportion patients of epithelial ovarian cancer would accept genetic counseling and tests.Genetic counseling clinics for gynecologic oncology would further improve genetic tests for patients.
DUTCH PROFESSIONAL GROUPS INVOLVED IN DRAWING UP THIS GUIDELINE: cardiologists, paediatric cardiologists, clinical geneticists, clinical molecular geneticists, genetic counsellors, psychosocial workers, associated with or cooperating with the university hospitals' outpatient clinics for cardiogenetics.Approved by the NVVC, VKGN and NVK (paediatric cardiology section).NVVC - Nederlandse Vereniging voor Cardiologie - Dutch Society for Cardiology; VKGN - Vereniging Klinische Genetica Nederland - the Netherlands Society for Clinical Genetics; NVK - Nederlandse Vereniging Kindergeneeskunde - Dutch Society for Paediatrics.First published in Dutch in June 2009.
La Verde, Nicla; Corsi, Fabio; Moretti, Anna; Peissel, Bernard; Dalu, Davide; Girelli, Serena; Fasola, Cinzia; Gambaro, Anna; Roversi, Gaia; Azzollini, Jacopo; Radice, Paolo; Pensotti, Valeria; Farina, Gabriella; Manoukian, Siranoush
Patients with hereditary breast cancer (BC) may benefit from genetic counseling and testing for detection of causative mutations, definition of therapeutic and preventive strategies, and identification of at-risk relatives. Italy has few oncogenetic centers and genetic evaluation of all patients with BC is not feasible. Moreover, lack of uniformity in the selection of patients generates inappropriate referral to the geneticist. We designed a model that may represent a reproducible way to select patients at risk for hereditary BC, with the aims of rationalizing access to genetic centers and improving clinical management and surveillance. The genetic unit of a Cancer Center and the Departments of Oncology from 2 public Hospitals in Milan were involved in the project. After training sessions at the genetic unit, operators from the 2 hospitals evaluated all patients with BC attending a first oncologic visit, through a specific interview. Patients considered at risk of hereditary BC attended counseling at the genetic unit. Of 419 patients, 61 (14.5%) were eligible for genetic counseling after the interview. Of these, 46 (10.9%) strictly met testing criteria. Overall, 52 (12.4%) patients underwent genetic counseling and 47 were tested for BRCA1/BRCA2 mutation. After genetic test results, the available options for treatment/surveillance were discussed by a multidisciplinary team, according to the level of genetic risk. It is possible to improve the process of referring patients with suspected hereditary BC for genetic risk assessment. The application of clinical screening reduced the genetics unit's workload and enabled optimization of time and resources.
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. PMID:27804046
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.
Butrick, Morgan; Kelly, Scott; Peshkin, Beth N.; Luta, George; Nusbaum, Rachel; Hooker, Gillian W.; Graves, Kristi; Feeley, Lisa; Isaacs, Claudine; B.Valdimarsdottir, Heiddis; Jandorf, Lina; DeMarco, Tiffani; Wood, Marie; McKinnon, Wendy; Garber, Judy
Purpose As genetic counseling and testing become more fully-integrated into clinical care, alternative delivery models are increasingly prominent. This study examines predictors of genetic testing for hereditary breast/ovarian cancer among high-risk women in a randomized trial of in-person vs. telephone-based genetic counseling. Methods Methods include multivariable logistic regression and interaction analyses. Results Of the 669 participants, 600 completed counseling and 523 received test re...
Jacher, Joseph E.; Martin, Lisa J.; Chung, Wendy K.; Loyd, James E.; Nichols, William C.
Pulmonary arterial hypertension (PAH) is characterized by obstruction of pre-capillary pulmonary arteries, which leads to sustained elevation of pulmonary arterial pressure. Identifying those at risk through early interventions, such as genetic testing, may mitigate disease course. Current practice guidelines recommend genetic counseling and offering genetic testing to individuals with heritable PAH, idiopathic PAH, and their family members. However, it is unclear if PAH specialists follow these recommendations. Thus, our research objective was to determine PAH specialists’ knowledge, utilization, and perceptions about genetic counseling and genetic testing. A survey was designed and distributed to PAH specialists who primarily work in the USA to assess their knowledge, practices, and attitudes about the genetics of PAH. Participants’ responses were analyzed using parametric and non-parametric statistics and groups were compared using the Wilcoxon rank sum test. PAH specialists had low perceived and actual knowledge of the genetics of PAH, with 13.2% perceiving themselves as knowledgeable and 27% actually being knowledgeable. Although these specialists had positive or ambivalent attitudes about genetic testing and genetic counseling, they had poor utilization of these genetic services, with almost 80% of participants never or rarely ordering genetic testing or referring their patients with PAH for genetic counseling. Physicians were more knowledgeable, but had lower perceptions of the value of genetic testing and genetic counseling compared to non-physicians (P genetics of PAH as well as the benefits of genetic testing and genetic counseling for individuals who treat patients with PAH. PMID:28597770
Increased demand of genetic counseling services heightened the necessity of a computerized genetic counseling decision support system. In order to develop an effective and efficient computerized system, modeling of genetic counseling guideline is an essential step. Throughout this pilot study, Agile methodology with United Modeling Language (UML) was utilized to model a guideline. 13 tasks and 14 associated elements were extracted. Successfully constructed conceptual class and activity diagrams revealed that Agile methodology with UML was a suitable tool to modeling a genetic counseling guideline.
Biesecker, Barbara; Austin, Jehannine; Caleshu, Colleen
Psychotherapeutic genetic counseling is an increasingly relevant practice description. In this paper we aim to demonstrate how psychotherapeutic genetic counseling can be achieved by using psychological theories to guide one's approach to working with clients. We describe two illustrative examples, fuzzy trace theory and cognitive behavior theory, and apply them to two challenging cases. The theories were partially derived from evidence of beneficial client outcomes using a psychotherapeutic approach to patient care in other settings. We aim to demonstrate how these two specific theories can inform psychotherapeutic genetic counseling practice, and use them as examples of how to take a psychological theory and effectively apply it to genetic counseling.
Kelly, Kimberly M; Ellington, Lee; Schoenberg, Nancy; Jackson, Thomas; Dickinson, Stephanie; Porter, Kyle; Leventhal, Howard; Andrykowski, Michael
Women with hereditary breast-ovarian cancer face decisions about screening (transvaginal ultrasound, CA125, mammography, breast exams) and proactive (before cancer) or reactive (after cancer) surgery (oophorectomy, mastectomy). The content of genetic counseling and its relation to these key health behaviors is largely unexamined. Ashkenazi Jewish women (n = 78) were surveyed through the process of genetic testing and had audiorecorded counseling sessions available for Linguistic Inquiry and Word Count analysis. Proportions for participant and counselor cognitive and affective content during sessions were used as primary predictor variables in linear mixed models for change in intentions for screening and treatment and in self-reported screening. Cognitive and affective content were important predictors of behavior. Counselor cognitive content was associated with ovarian screening. An interaction effect also emerged for CA-125, such that counselor cognitive content plus participant cognitive content or counselor affective content were associated with more screening. Teasing out the factors in risk communication that impact decision-making are critical, and affect from a risk communicator can spur action, such as cancer screening.
Griesi-Oliveira, Karina; Sertié, Andréa Laurato
Autism spectrum disorder is a complex and genetically heterogeneous disorder, which has hampered the identification of the etiological factors in each patient and, consequently, the genetic counseling for families at risk. However, in the last decades, the remarkable advances in the knowledge of genetic aspects of autism based on genetic and molecular research, as well as the development of new molecular diagnostic tools, have substantially changed this scenario. Nowadays, it is estimated that using the currently available molecular tests, a potential underlying genetic cause can be identified in nearly 25% of cases. Combined with clinical assessment, prenatal history evaluation and investigation of other physiological aspects, an etiological explanation for the disease can be found for approximately 30 to 40% of patients. Therefore, in view of the current knowledge about the genetic architecture of autism spectrum disorder, which has contributed for a more precise genetic counseling, and of the potential benefits that an etiological investigation can bring to patients and families, molecular genetic investigation has become increasingly important. Here, we discuss the current view of the genetic architecture of autism spectrum disorder, and list the main associated genetic alterations, the available molecular tests and the key aspects for the genetic counseling of these families. RESUMO O transtorno do espectro autista é um distúrbio complexo e geneticamente heterogêneo, o que sempre dificultou a identificação de sua etiologia em cada paciente em particular e, por consequência, o aconselhamento genético das famílias. Porém, nas últimas décadas, o acúmulo crescente de conhecimento oriundo das pesquisas sobre os aspectos genéticos e moleculares desta doença, assim como o desenvolvimento de novas ferramentas de diagnóstico molecular, tem mudado este cenário de forma substancial. Atualmente, estima-se que, por meio de testes moleculares, é poss
Thorburn, D R; Dahl, H H
Most patients with mitochondrial disorders are diagnosed by finding a respiratory chain enzyme defect or a mutation in the mitochondrial DNA (mtDNA). The provision of accurate genetic counseling and reproductive options to these families is complicated by the unique genetic features of mtDNA that distinguish it from Mendelian genetics. These include maternal inheritance, heteroplasmy, the threshold effect, the mitochondrial bottleneck, tissue variation, and selection. Although we still have much to learn about mtDNA genetics, it is now possible to provide useful guidance to families with an mtDNA mutation or a respiratory chain enzyme defect. We describe a range of current reproductive options that may be considered for prevention of transmission of mtDNA mutations, including the use of donor oocytes, prenatal diagnosis (by chorionic villus sampling or amniocentesis), and preimplantation genetic diagnosis, plus possible future options such as nuclear transfer and cytoplasmic transfer. For common mtDNA mutations associated with mitochondrial cytopathies (such as NARP, Leigh Disease, MELAS, MERRF, Leber's Hereditary Optic Neuropathy, CPEO, Kearns-Sayre syndrome, and Pearson syndrome), we summarize the available data on recurrence risk and discuss the relative advantages and disadvantages of reproductive options. Copyright 2001 Wiley-Liss, Inc.
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,
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 genetic counseling was high (96.1%). Conclusions: These results provide initial evidence of the efficacy of schizophrenia genetic counseling for families, even in the absence of individually relevant genetic 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
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.
Sussner, Katarina M.; Jandorf, Lina; Thompson, Hayley S.; Valdimarsdottir, Heiddis B.
Objective Despite underuse of genetic services for hereditary breast and/or ovarian cancer risk among Latinas (including counseling and testing for BRCA mutations), there is little known about the barriers and facilitators to BRCA genetic counseling among this group. It is imperative to first understand factors that may impede Latinas seeking BRCA genetic counseling, as it is considered a prerequisite to testing. Methods Quantitative telephone interviews (N=120) were conducted with at-risk Latinas in New York City to investigate interest, barriers and beliefs about BRCA genetic counseling. Statistical analyses examined predictors of intention to undergo BRCA genetic counseling. Results Despite moderate levels of awareness, Latinas held largely positive beliefs, attitudes and knowledge about BRCA genetic counseling. Perceived barriers included logistic concerns (e.g., where to go, cost/health insurance coverage), emotional concerns (e.g., fear, distress) and competing life concerns (e.g, too many other things to worry about, too busy taking care of children or family members). Multivariate results showed that the strongest predictor of intention to undergo BRCA genetic counseling was competing life concerns; Latinas with more competing life concerns were less likely to intend to undergo BRCA genetic counseling (p=0.0002). Other significant predictors of intention included perceived risk of carrying a BRCA mutation (p=0.01) and referral by their physician (p=0.02). Conclusion Educational efforts to promote BRCA genetic counseling among at-risk Latinas and increase referrals by their physicians should incorporate discussion of perceived barriers to counseling, such as competing life concerns that Latinas may need to overcome in order to seek genetic counseling. PMID:22987526
Diness, Birgitte Rode; Overbeck, Gritt; Hjortshøj, Tina Duelund
Outcome measurement in clinical genetics is challenging. Robust outcome measures are needed to provide evidence to support service development within genetic counseling. The Genetic Counselling Outcome Scale (GCOS-24), a Patient Reported Outcome Measure (PROM), was developed in English...... 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...
Zaccaro, Antonella; Freda, Maria Francesca
This study explored the processes of significance about the risk communication in prenatal/preconception setting within 1 month to the end of genetic counselling intervention. Participants were all attending a programme of Cardiomyology and Medical Genetics in Naples, Italy, for the first time. Transcripts of 18 semi-structured interviews were analysed using interpretative phenomenological analysis. Themes arising included the following: the familiar outcomes of genetic counselling, the risk representation and the impacts on decision-making. The findings suggest the significance of the experience of genetic risk and the implications for the support of individuals and their family after the conclusion of the genetic counselling intervention.
Vig, Hetal S.; Wang, Catharine
Practice changes in cancer genetic counseling have occurred to meet the demand for cancer genetic services. As cancer genetics continues to impact not only prevention strategies but also treatment decisions, current cancer genetic counseling models will need to be tailored to accommodate emerging clinical indications. These clinical indications include: surgical prophylactic bilateral mastectomy candidates, PARP-inhibitor candidates, patients with abnormal tumor screening results for Lynch syndrome, and post-test counseling patients (after genetic testing is ordered by another healthcare provider). A more personalized, multidisciplinary approach to selecting the best framework, for a given clinical indication, may become increasingly necessary in this era of personalized medicine. PMID:22419176
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 travelling distances, generally showing positive patient outcomes. We think online counselling – including the use of supportive tools that are also available during in-person counselling – of presymptomatic patients in their homes can also be feasible and valuable for patients in relatively small regions. We performed a single-centre pilot study of online genetic counselling for 57 patients who were presymptomatic cardiogenetic (n=17), presymptomatic oncogenetic (n=34) and prenatal (3 couples). One-third of presymptomatic patients we approached consented to online counselling. Patient evaluations of practical aspects, satisfaction and psychological outcomes were assessed and compared with a matched control group. Patients managed to fulfil the preparations, were significantly more satisfied with their counsellor and counselling session than controls and were satisfied with the online counselling more than they expected to be beforehand. Psychological outcomes (decreased anxiety and increased control) did not differ with control patients. Technical problems occurred in almost half of online sessions. Nonetheless, online counselling in patients' homes proved to be feasible and was appreciated by a substantial part of presymptomatic patients at our genetics centre in the Netherlands. Based on these outcomes, we conclude online counselling can be a valuable addition to existing counselling options in regular patient care. PMID:26173963
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 travelling distances, generally showing positive patient outcomes. We think online counselling--including the use of supportive tools that are also available during in-person counseling--of presymptomatic patients in their homes can also be feasible and valuable for patients in relatively small regions. We performed a single-centre pilot study of online genetic counselling for 57 patients who were presymptomatic cardiogenetic (n=17), presymptomatic oncogenetic (n=34) and prenatal (3 couples). One-third of presymptomatic patients we approached consented to online counselling. Patient evaluations of practical aspects, satisfaction and psychological outcomes were assessed and compared with a matched control group. Patients managed to fulfil the preparations, were significantly more satisfied with their counsellor and counselling session than controls and were satisfied with the online counselling more than they expected to be beforehand. Psychological outcomes (decreased anxiety and increased control) did not differ with control patients. Technical problems occurred in almost half of online sessions. Nonetheless, online counselling in patients' homes proved to be feasible and was appreciated by a substantial part of presymptomatic patients at our genetics centre in the Netherlands. Based on these outcomes, we conclude online counselling can be a valuable addition to existing counselling options in regular patient care.
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
Skinner, Stephanie; Guimond, Colleen; Butler, Rachel; Dwosh, Emily; Traboulsee, Anthony L; Sadovnick, A Dessa
Multiple sclerosis (MS) affects up to 1/500 Canadians. The University of British Columbia MS Clinic (UBC Clinic) is the only MS clinic in Canada (and likely internationally) that routinely offers genetic counseling to patients and their families. A typical session includes the collection of family history and demographic data, discussion of the inheritance of MS, interpretation of family-specific recurrence risks and psychosocial counseling. The aims of this study were to explore patients': 1) expectations of the genetic counseling session; 2) understanding of the etiology of MS (both pre and post-session); and 3) post-session perceptions of genetic counseling. A two-part questionnaire to assess genetic counseling services was distributed before and after sessions to all consenting patients seen during the period October 1, 2008 to February 28, 2009 inclusive. Sixty-two completed questionnaires were analysed. Genetic counseling was found to significantly increase the number of individuals who were able to correctly identify the etiology of MS (p genetic counseling was high, with an average satisfaction score of 32.4/35 (92.6 %). Of those who provided comments (n = 42/60) regarding the usefulness of the genetic counseling session, 95.2 % reported it useful (n = 40/42). Findings suggest that genetic counseling is effective in increasing patients' knowledge of the etiology of MS and is viewed by patients as a useful service. Based on the high level of positive feedback regarding genetic counseling by the study sample, this study suggests that the services provided by genetic counselors may be beneficial for patients with MS seen in other centers.
Maio, Melissa; Carrion, Prescilla; Yaremco, Elyse; Austin, Jehannine C.
Genetic counseling can result in better outcomes when clients understand what to expect, and at least theoretically, at some point in their lifespan, anyone could be referred for or benefit from genetic counseling. Thus, in order to identify (and ultimately address) issues around awareness of genetic counseling and perceptions of its purpose, we surveyed the Canadian general population. We acquired 1000 telephone numbers corresponding to a demographically representative sample of Canada from Survey Sampling International, and invited individuals to participate in a telephone-based survey. We administered a purpose-designed survey (in either French or English) comprising questions regarding: demographics, whether or not the individual had heard of genetic counseling, and 15 Likert scale-rated (strongly disagree – strongly agree) items about the possible purposes of genetic counseling. Responses to these 15 items were used to generate a total “knowledge score”. Of the 1000 numbers, n=372 could not be reached, and the survey was successfully administered to n=188 individuals (response rate 30%). Most respondents (n=129, 69%) had not heard of genetic counseling, and substantial proportions thought that genetic counseling aims to prevent genetic diseases and abnormalities, help couples have children with desirable characteristics, and help people to understand their ancestry. These data could be used to inform the strategy for development of future awareness efforts, and as a baseline from which to measure their effects. PMID:23963834
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 (pGenetic counseling may have increased altruistic motivations to help family and may be a prime opportunity to discuss other forms of altruism. PMID:26578231
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.
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.
Aalfs, C. M.; Mollema, E. D.; Oort, F. J.; de Haes, J. C. J. M.; Leschot, N. J.; Smets, E. M. A.
Reproductive genetic counseling for a familial genetic risk factor preferably takes place before conception. However, of the women with a family history of genetic conditions who attend our department of clinical genetics, about 10-20% attend for the first time during a pregnancy. The current study
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.
Sheppard, Vanessa B.; Graves, Kristi D.; Christopher, Juleen; Hurtado-de-Mendoza, Alejandra; Talley, Costellia; Williams, Karen Patricia
Genetic counseling and testing for hereditary breast cancer have the potential benefit of early detection and early interventions in African American women. However, African American women have low use of these services compared to White women. We conducted two focus groups with African American women diagnosed with breast cancer (affected group, n=13) and women with at least one first-degree relative with breast/ovarian cancer (unaffected group, n= 8). A content analysis approach was employed to analyze interview data. Breast cancer survivors had more knowledge about genetic counseling and testing than participants who were unaffected with cancer. However, knowledge about genetic counseling was limited in both groups. Barriers to pursuing genetic counseling and testing included poor understanding of the genetic counseling and testing process, fear of carrying the mutation, concerns about discrimination, and cost. Motivators to participate in genetic counseling and testing included desire to help family members, insurance coverage, and potential of benefiting the larger African American community. Education efforts are needed to increase genetic counseling and testing awareness in the African American community. PMID:24186304
Sheppard, Vanessa B; Graves, Kristi D; Christopher, Juleen; Hurtado-de-Mendoza, Alejandra; Talley, Costellia; Williams, Karen Patricia
Genetic counseling and testing for hereditary breast cancer have the potential benefit of early detection and early interventions in African American women. However, African American women have low use of these services compared to White women. We conducted two focus groups with African American women diagnosed with breast cancer (affected group, n = 13) and women with at least one first-degree relative with breast/ovarian cancer (unaffected group, n = 8). A content analysis approach was employed to analyze interview data. Breast cancer survivors had more knowledge about genetic counseling and testing than participants who were unaffected with cancer. However, knowledge about genetic counseling was limited in both groups. Barriers to pursuing genetic counseling and testing included poor understanding of the genetic counseling and testing process, fear of carrying the mutation, concerns about discrimination, and cost. Motivators to participate in genetic counseling and testing included desire to help family members, insurance coverage, and potential of benefiting the larger African American community. Education efforts are needed to increase genetic counseling and testing awareness in the African American community.
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.
Wherley, Colleen; Veach, Patricia McCarthy; Martyr, Meredith A; LeRoy, Bonnie S
Supervision plays a vital role in genetic counselor training, yet models describing genetic counseling supervision processes and outcomes are lacking. This paper describes a proposed supervision model intended to provide a framework to promote comprehensive and consistent clinical supervision training for genetic counseling students. Based on the principle "form follows function," the model reflects and reinforces McCarthy Veach et al.'s empirically derived model of genetic counseling practice - the "Reciprocal Engagement Model" (REM). The REM consists of mutually interactive educational, relational, and psychosocial components. The Reciprocal Engagement Model of Supervision (REM-S) has similar components and corresponding tenets, goals, and outcomes. The 5 REM-S tenets are: Learning and applying genetic information are key; Relationship is integral to genetic counseling supervision; Student autonomy must be supported; Students are capable; and Student emotions matter. The REM-S outcomes are: Student understands and applies information to independently provide effective services, develop professionally, and engage in self-reflective practice. The 16 REM-S goals are informed by the REM of genetic counseling practice and supported by prior literature. A review of models in medicine and psychology confirms the REM-S contains supervision elements common in healthcare fields, while remaining unique to genetic counseling. The REM-S shows promise for enhancing genetic counselor supervision training and practice and for promoting research on clinical supervision. The REM-S is presented in detail along with specific examples and training and research suggestions.
Babul-Hirji, Riyana; Hewson, Stacy; Frescura, Marina
To examine the process of genetic counseling with the aim of observing how participants negotiate a common understanding in light of the inherent power asymmetry of a genetics health care encounter. Data from ten sessions between genetic counselors and parents of children with a genetic diagnosis were taped. Transcripts were examined using a qualitative discourse analysis approach focusing on communication features such as question design, topic initiation and control, and lexical or discourse features which could give insights into rapport building strategies. Counselors tightly controlled the medical history phase in all sessions and verbally dominated the scientific information phase. More symmetric communication occurred when: (i) counselors showed flexibility with their agenda and gave parents the opportunity to share their health experience; (ii) counselors showed signs of involvement through the use of 'rapport building' strategies; (iii) counselors used a syllogistic approach and information was delivered at a slower pace. Observations from this study suggest that, when counselors focus on building rapport with parents, the human voice of the parent emerges. Examples of rapport building strategies by the counselors included adapting to the parents' variations in knowledge, recognizing the needs of the parents, verifying their understanding, and choosing a more interactive approach to the delivery of information. Our findings suggest that for effective communication to occur, parents need to be provided with opportunities to be active participants in the genetic counseling encounter.
Yamaguchi, Masatoshi; Sameshima, Hiroshi; Ikenoue, Tyuyomu
In order to verify androgen-insensitivity syndrome (AIS) for three individuals and their mothers, genetic diagnosis was performed after genetic counseling. Polymerase chain reaction analysis was used for each exon of the androgen receptor (AR Xq11-q12) gene. The amplified DNA fragments were detected by gel electrophoresis. The DNA fragments were sequenced and their sequences were compared with those in a database (The Androgen Receptor Gene Mutations Database World Wide Web Server). A missense mutation was identified in exon 7 in case 1, deletions of exons 1 and 2 were identified in case 2, and a nonsense mutation was identified in the triplet repeat region of exon 1 in case 3. The mothers of the patients were also verified to be carriers of the mutations. Genetic diagnosis is a very useful method for diagnosing AIS. However, genetic counseling, including emotional support for the mother, is an essential component of genetic diagnosis. © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.
Somers, Allyson E; Ware, Stephanie M; Collins, Kathleen; Jefferies, John L; He, Hua; Miller, Erin M
Cardiovascular genetic counseling has emerged as a specialty critical to the care of patients with heritable cardiovascular disease. Current strategies to meet the growing demand are not clear. We sought to characterize practice patterns of cardiac genetic counseling by developing a novel survey distributed to the National Society of Genetic Counselors (NSGC) Listserv to assess clinical practice, cardiovascular training, and education. Descriptive statistics were used to summarize clinical practice; Fisher's exact test and the Cochran-Armitage trend test were used to compare the practice of cardiovascular genetic counselors (CVGCs) to those who did not identify cardiology as a specialty (non-CVGCs). A total of 153 individuals completed the survey. Of the 105 participants who reported seeing a cardiac genetics patient, 42 (40%) identified themselves as a CVGC. The most common conditions for which genetic counseling was provided were hypertrophic cardiomyopathy (HCM) (71% of participants), dilated cardiomyopathy (DCM) (61%), long QT syndrome (LQTS) (56%), and genetic syndromes with cardiovascular disease (55%). CVGCs were significantly more confident than non-CVGCs in providing genetic counseling for seven cardiovascular diseases (2.3 × 10(-6) ≤ p ≤ 0.021). Eighty-six percent of genetic counselors sought additional education related to cardiovascular genetics and listed online courses as the most desirable method of learning. These data suggest a growing interest in cardiovascular genetic counseling and need for additional training resources among the NSGC membership.
Riley, Bronson D; Culver, Julie O; Skrzynia, Cécile; Senter, Leigha A; Peters, June A; Costalas, Josephine W; Callif-Daley, Faith; Grumet, Sherry C; Hunt, Katherine S; Nagy, Rebecca S; McKinnon, Wendy C; Petrucelli, Nancie M; Bennett, Robin L; Trepanier, Angela M
Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.
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
Bleiker, E. M. A.; Aaronson, N. K.; Menko, F. H.; Hahn, D. E. E.; van Asperen, C. J.; Rutgers, E. J. T.; ten Kate, L. P.; Leschot, N. J.
Individuals who received genetic counseling for cancer (N=36) provided feedback on the quality of services and identified areas for improvement. Reasons for counseling and need for psychosocial support are also considered. Generally high levels of satisfaction with care provided were found. Four areas for improvement are identified and discussed.…
Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu
Waardenburg syndrome (WS) is an auditory-pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY-box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array-based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice-site mutation MITF c.909G>A in family 03 and an in-frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling. PMID:29115496
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
Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.
This article examines the relationship between cultural affiliation and deaf adults' motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf,…
Paneque, Milena; Sequeiros, Jorge; Skirton, Heather
Genetic counselling for presymptomatic testing is complex, bringing both ethical and practical questions. There are protocols for counselling but a scarcity of literature regarding quality assessment of such counselling practice. Generic quality assessment tools for genetic services are not specific to presymptomatic testing (PST). Therefore, the aim of this study was to identify aspects of effective counselling practice in PST for late-onset neurological disorders. We used the Delphi method to ascertain the views of relevant European experts in genetic counselling practice, ascertained via published literature and nomination by practitioners. Ethical approval was obtained. Questionnaires were sent electronically to a list of 45 experts, (Medical Doctors, Geneticists, Genetic Counsellors and Genetic Nurses), who each contributed to one to three rounds. In the first round, we provided a list of relevant indicators of quality of practice from a literature review. Experts were requested to evaluate topics in four domains: (a) professional standards; (b) service standards; (c) the consultant's perspective; and (d) protocol standards. We then removed items receiving less than 65% approval and added new issues suggested by experts. The second round was performed for the refinement of issues and the last round was aimed at achieving final consensus on high-standard indicators of quality, for inclusion in the assessment tool. The most relevant indicators were related to (1) consultant-centred practice and (2) advanced counselling and interpersonal skills of professionals. Defined high-standard indicators can be used for the development of a new tool for quality assessment of PST counselling practice.
Johannes L. Roos
Full Text Available 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 on the MEDLINE database (2011–2015 and African Healthline. A current alert service which provides the most recent literature on the topic on a monthly basis was also used in the study. A clinical case example is presented as is experienced in daily psychiatric practice. Results: Genetic risk communication has become the responsibility of the multiprofessional treatment team, moving away from specialists in the field. The treatment team provides information on a daily basis regarding risk predictors in the management of schizophrenia, including risk of relapse, suicide and comorbid substance use. Although genetic information is unique and has implications for blood relatives, genetic risk factors only rarely provide information that is inherently different from that provided by other risk predictors commonly used in healthcare. The common variant common disease and rare variant common disease models as contrasting hypothesis of the genetics of schizophrenia are discussed and debated. An example of a family counselled is given and the place of commercial companies that offer directly to the consumer affordable personal DNA testing for psychiatric illness is discussed. Ethical issues without resolution regarding genetic counselling of schizophrenia are debated. Conclusions: Recent genetic findings must lead to profound changes in genetic and family counselling in schizophrenia. Exposed attributable risk has immediate effects on genetic counselling of schizophrenia. Psychiatric risk counselling has thus changed from risk estimates based on family history to estimates based on test results in specific individuals.
Mikkelsen, Ellen M; Sunde, Lone; Johansen, Christoffer
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...... counseling, compared to a reduction of 5% (p=0.03) and 2% (p=0.01) in Reference Groups I and II, respectively. Risk communicated only in words, inaccurate risk perception at baseline, and presence of a familial mutation appeared to be predictors of inaccurate risk perception 12 months after counseling...
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.
Hodgson, Jan M; Metcalfe, Sylvia A; Aitken, Maryanne; Donath, Susan M; Gaff, Clara L; Winship, Ingrid M; Delatycki, Martin B; Skene, Loane L C; McClaren, Belinda J; Paul, Jean L; Halliday, Jane L
Genetic information given to an individual newly diagnosed with a genetic condition is likely to have important health implications for other family members. The task of communicating with these relatives commonly falls to the newly diagnosed person. Talking to relatives about genetic information can be challenging and is influenced by many factors including family dynamics. Research shows that many relatives remain unaware of relevant genetic information and the possible impact on their own health. This study aims to evaluate whether a specific genetic counselling intervention for people newly diagnosed with a genetic condition, implemented over the telephone on a number of occasions, could increase the number of at-risk relatives who make contact with genetics services after a new genetic diagnosis within a family. This is a prospective, multi-centre randomised controlled trial being conducted at genetics clinics at five public hospitals in Victoria, Australia. A complex genetic counselling intervention has been developed specifically for this trial. Probands (the first person in a family to present with a diagnosis of a genetic condition) are being recruited and randomised into one of two arms - the telephone genetic counselling intervention arm and the control arm receiving usual care. The number of at-risk relatives for each proband will be estimated from a family pedigree collected at the time of diagnosis. The primary outcome will be measured by comparing the proportion of at-risk relatives in each arm of the trial who make subsequent contact with genetics services. This study, the first randomised controlled trial of a complex genetic counselling intervention to enhance family communication, will provide evidence about how best to assist probands to communicate important new genetic information to their at-risk relatives. This will inform genetic counselling practice in the context of future genomic testing. Australia and New Zealand Clinical Trials
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.
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.
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.
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
Buchtel, Kathryn M; Vogel Postula, Kristen J; Weiss, Shelly; Williams, Carmen; Pineda, Mario; Weissman, Scott M
In December 2014, the FDA approved olaparib, a poly(ADP-ribose) polymerase inhibitor (PARPi) for ovarian cancer patients who have failed three or more lines of chemotherapy and have a germline BRCA1/2 mutation identified through a companion diagnostic test (BRACAnalysis CDx™ (CDx™)) offered exclusively by Myriad Genetic Laboratories. This study explored the impact of PARPi/CDx™ on genetic counselors' (GCs) counseling and testing practices. One hundred twenty three GCs responded to an online survey regarding pre- and post-FDA approval referral patterns, testing strategies/influences, and anecdotal experiences with insurance coverage of PARPi for BRCA1/2 positive patients through a non-CDx™ platform. Following PARPi approval, 40% of respondents reported an increase in overall referrals of ovarian cancer patients and 20% had an increase in post-test counseling only referrals. The majority (61.9%) of respondents reported no change in genetic testing strategy, and there was no change in factors influencing choice of testing laboratory. Nearly all (98.1%) respondents who had experience with insurance covering PARPi indicated approval with mutations identified via non-CDx™ testing. Respondents indicated an increase in referral volume following FDA approval of PARPi/CDx™, but did not report changes in testing practices. Respondents were not aware of PARPi insurance coverage denial in the absence of CDx™.
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.
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.
Buchanan, Adam Hudson; Rahm, Alanna Kulchak; Williams, Janet L.
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. PMID:27242960
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. PMID:26937355
Ricci, Maria Teresa; Sciallero, Stefania; Mammoliti, Serafina; Gismondi, Viviana; Franiuk, Marzena; Bruzzi, Paolo; Varesco, Liliana
Nearly 15% of all ovarian cancer patients carry a germline BRCA mutation. A pilot project was started at IRCCS AOU San Martino--IST, Genoa, to assess the feasibility and consequences of offering genetic counselling to all ovarian cancer patients during routine oncology appointments. We present early results of this project. Patients who attended an oncology visit at the Medical Oncology Unit 1 between November 2012 and December 2013 were identified. Medical records were reviewed for clinical data, genetic counselling and testing outcomes. Out of 104 women diagnosed with ovarian cancer undergoing an oncology visit, 94 had not had genetic counselling in the past. Twenty-nine patients (29/94, 31%) were referred to the Unit of Hereditary Cancer; of these, 14/26 (54%) were referred at the first visit and 15/68 (22%) at the follow-up visit (p = 0.003). Most referred women attended genetic counselling (22/29, 76%) and had BRCA genetic testing (21/22, 95%). Four BRCA1 mutations were detected (4/21, 19%). Oncologists discuss genetic counselling with a minority of ovarian cancer patients. Mainstreaming such practice is important to optimize the management of these patients and their families. Efforts are needed to identify new models for introducing ovarian cancer genetic risk assessment in oncology practice. © 2015 S. Karger AG, Basel.
Bassett, Anne S.
Background: Recent advances in schizophrenia genetics are shedding new light on etiopathogenesis, but issues germane to translation of findings into clinical practice are relatively understudied. We assessed the need for, and efficacy of, a contemporary genetic counseling protocol for individuals with schizophrenia. Methods: After characterizing rare copy number variation in a cohort of adults with schizophrenia, we recruited subjects from the majority of individuals who had no clinically relevant structural genetic variant. We used a pre-post study design with longitudinal follow-up to assess both the profile of need and the impact of general genetic counseling on key knowledge-based and psychological factors. Results: Thirty-nine (60.0%) of 65 patients approached actively expressed an interest in the study. At baseline, participants (n = 25) tended to overestimate the risk of familial recurrence of schizophrenia, express considerable concern related to this perceived risk, endorse myths about schizophrenia etiology, and blame themselves for their illness. Postcounseling, there was a significant improvement in understanding of the empiric recurrence risk (P = .0090), accompanied by a decrease in associated concern (P = .0020). There were also significant gains in subjective (P = .0007) and objective (P = .0103) knowledge, and reductions in internalized stigma (P = .0111) and self-blame (P = .0401). Satisfaction with genetic counseling, including endorsement of the need for such counseling (86.4%), was high. Conclusions: These results provide initial evidence of need for, and efficacy of, genetic counseling for individuals with schizophrenia. The findings may help facilitate development of a contemporary genetic counseling process that could optimize outcomes in the nascent field of evidence-based psychiatric genetic counseling. PMID:23236078
Chu, Shao-Yin; Weng, Chun-Ying
Genetic disease or hereditary disease is a group of disorders that is caused by mutations in an individual's genome. The mutated genome or gene may be transmitted through the germ line during reproduction, causing certain recurrence risk in offspring and other family members. The heritability of these disorders is thus an important issue to deal with clinically. In Taiwan, a rare disease is defined as a disease that is prevalent in fewer than 1 in 10,000 individuals. As up to 80% of rare disease cases in Taiwan are genetic disease disorders, genetic disease may not rare. The pathophysiology of genetic/ rare disease is very complicated. Individual disorders may have their own unique mechanisms (such as Fragile X syndrome), with most of these mechanisms still unclear or unknown. The symptoms and signs of genetic/rare disease thus present the greatest variabilities and cause difficulties in making diagnoses. Most related patients may present multiple congenital anomalies, metabolic disorders, growth and developmental delays, defects in cognition, neuromuscular abnormalities, and defects in vision, hearing or other organ functions. Symptomatic and supportive treatment still comprise a major component of treatment of genetic/rare disease (with the exception of special formulae for several inborn errors of metabolic disease and enzyme replacement therapy in some lysosomal storage disease). Poor self-care ability is common and the burden on caregivers is huge. Most rare disease patients are treated using a comprehensive rehabilitation program that begins during very early childhood, receive individual educational programs, and are continuously monitored with regard to their growth, developmental, and nutritional status. Inter-professional patient care, genetic counseling, and the creation of family support networks play an important role in family management. Public awareness and the creation of appropriate social systems and resources allocation are mandatory for proper
Schlich-Bakker, Kathryn J; ten Kroode, Herman F J; Wárlám-Rodenhuis, Carla C; van den Bout, Jan; Ausems, Margreet G E M
Little is known about reasons why eligible breast cancer patients decline BRCA mutation testing. They may withdraw at different stages during genetic counseling for different reasons. We prospectively studied perceived benefits and barriers to genetic counseling and BRCA testing in 102 newly diagnosed breast cancer patients approached for genetic counseling at the start of radiotherapy. Patients completed questionnaires and participated in interviews at different stages of the counseling protocol. Participation was not influenced by distress, knowledge about hereditary breast cancer, previous genetic testing in relatives, or perceived risks and barriers. Immediate decliners (n = 23) do not believe genetic testing is relevant for them. Patients who decline after pedigree compilation (n = 14) are more hesitant and anxious about the influence of the test result on their future often wishing to postpone further testing. Late decliners (n = 7) withdraw afraid of the test result and/or after a relative's objection. These decliners are not easily identified upon approach because they are similar to patients who receive a DNA test result (n = 58). Notwithstanding their decline, 81% agreed to the timing or would have preferred an earlier approach for genetic counseling. Decliners may make more informed decisions after tailored health education, including adequate risk information.
Benkendorf, J L; Prince, M B; Rose, M A; De Fina, A; Hamilton, H E
To date, research examining adherence to genetic counseling principles has focused on specific counseling activities such as the giving or withholding of information and responding to client requests for advice. We audiotaped 43 prenatal genetic counseling sessions and used data-driven, qualitative, sociolinguistic methodologies to investigate how language choices facilitate or hinder the counseling process. Transcripts of each session were prepared for sociolinguistic analysis of the emergent discourse that included studying conversational style, speaker-listener symmetry, directness, and other interactional patterns. Analysis of our data demonstrates that: 1) indirect speech, marked by the use of hints, hedges, and other politeness strategies, facilitates rapport and mitigates the tension between a client-centered relationship and a counselor-driven agenda; 2) direct speech, or speaking literally, is an effective strategy for providing information and education; and 3) confusion exists between the use of indirect speech and the intent to provide nondirective counseling, especially when facilitating client decision-making. Indirect responses to client questions, such as those that include the phrases "some people" or "most people," helped to maintain counselor neutrality; however, this well-intended indirectness, used to preserve client autonomy, may have obstructed direct explorations of client needs. We argue that the genetic counseling process requires increased flexibility in the use of direct and indirect speech and provide new insights into how "talk" affects the work of genetic counselors.
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.
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…
Hitchcock, Emma; Gibson, William T
Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family. Studies using linkage analysis, genome-wide association, and next-generation sequencing have found several candidate loci and genes associated with disease onset, but have not conclusively implicated a single gene. In addition to family history, a separate or concurrent diagnosis of autosomal dominant polycystic kidney disease is a strong genetic risk factor for IBA formation. We also discuss the relative risk for developing IBA in several Mendelian syndromes including vascular Ehlers-Danlos syndrome, Marfan syndrome, Neurofibromatosis Type I, and Loeys-Dietz syndrome.
Bozdar, M.; Hanif, T.B.
To compare the response towards prenatal diagnosis (PND) of b-thalassaemia, in individuals who had not received genetic counselling and a genetically counselled population. Study Design: Cross-sectional survey. Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi, from March 2009 to December 2010. Methodology: Using non-probability consecutive sampling, a total of 176 individuals having thalassaemic children, were interviewed regarding PND of thalassaemia, by using a structured questionnaire. Forty two individuals were taken as controls as they had received genetic counselling for PND, whereas the remaining 134 were taken as cases. Responses towards PND were compared using chi-square test. Odds ratio was also calculated for subsequent PND utilization. Results: Seventy (52.2%) cases and 42 (100%) controls were aware of the availability of PND in Pakistan. This difference in awareness was statistically significant (p < 0.001). In the controls, 40 (95.3%) individuals were aware of the appropriate timing of the test, in contrast to 52 (39%) cases (p < 0.001). PND was used in subsequent pregnancies by 50 (37.3%) cases and 32 (80%) controls (p < 0.001). The calculated odds ratio for subsequent PND utilization was 5.37. Conclusion: The study reflects a very positive attitude of genetically counselled thalassaemia affected families towards PND. For better utilization of PND, genetic counselling services should be available at all health strata. (author)
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.
Finley, Sabra Ledare; Veach, Pat McCarthy; MacFarlane, Ian M; LeRoy, Bonnie S; Callanan, Nancy
Supervision is a primary instructional vehicle for genetic counseling student clinical training. Approximately two-thirds of genetic counselors report teaching and education roles, which include supervisory roles. Recently, Eubanks Higgins and colleagues published the first comprehensive list of empirically-derived genetic counseling supervisor competencies. Studies have yet to evaluate whether supervisors possess these competencies and whether their competencies differ as a function of experience. This study investigated three research questions: (1) What are genetic counselor supervisors' perceptions of their capabilities (self-efficacy) for a select group of supervisor competencies?, (2) Are there differences in self-efficacy as a function of their supervision experience or their genetic counseling experience, and 3) What training methods do they use and prefer to develop supervision skills? One-hundred thirty-one genetic counselor supervisors completed an anonymous online survey assessing demographics, self-efficacy (self-perceived capability) for 12 goal setting and 16 feedback competencies (Scale: 0-100), competencies that are personally challenging, and supervision training experiences and preferences (open-ended). A MANOVA revealed significant positive effects of supervision experience but not genetic counseling experience on participants' self-efficacy. Although mean self-efficacy ratings were high (>83.7), participant comments revealed several challenging competencies (e.g., incorporating student's report of feedback from previous supervisors into goal setting, and providing feedback about student behavior rather than personal traits). Commonly preferred supervision training methods included consultation with colleagues, peer discussion, and workshops/seminars.
Robinson, C L; Jouni, H; Kruisselbrink, T M; Austin, E E; Christensen, K D; Green, R C; Kullo, I J
We investigated whether disclosure of coronary heart disease (CHD) genetic risk influences perceived personal control (PPC) and genetic counseling satisfaction (GCS). Participants (n = 207, age: 45-65 years) were randomized to receive estimated 10-year risk of CHD based on a conventional risk score (CRS) with or without a genetic risk score (GRS). Risk estimates were disclosed by a genetic counselor who also reviewed how GRS altered risk in those randomized to CRS+GRS. Each participant subsequently met with a physician and then completed surveys to assess PPC and GCS. Participants who received CRS+GRS had higher PPC than those who received CRS alone although the absolute difference was small (25.2 ± 2.7 vs 24.1 ± 3.8, p = 0.04). A greater proportion of CRS+GRS participants had higher GCS scores (17.3 ± 5.3 vs 15.9 ± 6.3, p = 0.06). In the CRS+GRS group, PPC and GCS scores were not correlated with GRS. Within both groups, PPC and GCS scores were similar in patients with or without family history (p = NS). In conclusion, patients who received their genetic risk of CHD had higher PPC and tended to have higher GCS. Our findings suggest that disclosure of genetic risk of CHD together with conventional risk estimates is appreciated by patients. Whether this results in improved outcomes needs additional investigation. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Smigiel, Robert; Karpiński, Paweł; Patkowski, Dariusz
Oesophageal atresia is a congenital developmental defect of alimentary tract concerning the interruption of oesophagus with or without connection with the trachea. The incidence of oesophageal atresia is 1:3000-3500 of live-born infants. Associated anomalies occur in 50% of patients (syndromic cases). In the rest of the patients with oesophageal atresia these anomalies are isolated (non-syndromic cases). The knowledge of dysmorphic syndromes with oesophageal defects, allows us to diagnose the complex genetic syndromes and to implement the correct treatment and correct genetic counselling concerning the etiology, natural course of the disease, prognosis and possible complications as well as determining the recurrence risk of the disease in the family. The authors describe the chosen embryological, epidemiological and genetic aspects of congenital oesophageal atresia. The clinical aspects, genetic counselling as well as the genetic basis of chosen genetic syndromes with oesophageal atresia are also described in this article.
Heald, Brandie; Rybicki, Lisa; Clements, Diane; Marquard, Jessica; Mester, Jessica; Noss, Ryan; Nardini, Monica; Polk, Jill; Psensky, Brittany; Rigelsky, Christina; Schreiber, Allison; Shealy, Amy; Smith, Marissa; Eng, Charis
With genomics influencing clinical decisions, genetics professionals are exponentially called upon as part of multidisciplinary care. Increasing demand for genetic counselling, a limited workforce, necessitates practices improve efficiency. We hypothesised that distinct differences in clinical workload exist between various disciplines of genetic counselling, complicating practice standardisation and patient volume expectations. We thus sought to objectively define and assess workload among v...
Austin, Jehannine; Semaka, Alicia; Hadjipavlou, George
Discussions about genetic contributions to medical illness have become increasingly commonplace. Physicians and other health-care providers in all quarters of medicine, from oncology to psychiatry, routinely field questions about the genetic basis of the medical conditions they treat. Communication about genetic testing and risk also enter into these conversations, as knowledge about genetics is increasingly expected of all medical specialists. Attendant to this evolving medical landscape is some uncertainty regarding the future of the genetic counseling profession, with the potential for both increases and decreases in demand for genetic counselors being possible outcomes. This emerging uncertainty provides the opportunity to explicitly conceptualize the potentially distinct value and contributions of the genetic counselor over and above education about genetics and risk that may be provided by other health professionals. In this paper we suggest conceptualizing genetic counseling as a highly circumscribed form of psychotherapy in which effective communication of genetic information is a central therapeutic goal. While such an approach is by no means new—in 1979 Seymour Kessler explicitly described genetic counseling as a “kind of psychotherapeutic encounter,” an “interaction with a psychotherapeutic potential”—we expand on his view, and provide research evidence in support of our position. We review available evidence from process and outcome studies showing that genetic counseling is a therapeutic encounter that cannot be reduced to one where the counselor performs a simple “conduit for information” function, without losing effectiveness. We then discuss potential barriers that may have impeded greater uptake of a psychotherapeutic model of practice, and close by discussing implications for practice. PMID:24841456
Benusiglio, Patrick R; Di Maria, Marina; Dorling, Leila; Jouinot, Anne; Poli, Antoine; Villebasse, Sophie; Le Mentec, Marine; Claret, Béatrice; Boinon, Diane; Caron, Olivier
The increase in referrals to cancer genetics clinics, partially associated with the "Angelina Jolie effect", presents a challenge to existing services, many are already running at full capacity. More efficient ways to deliver genetic counselling are therefore urgently needed. We now systematically offer group instead of standard individual counselling to patients with suspected Hereditary Breast and Ovarian Cancer. Group sessions last 30 min. The first twenty consist of a presentation by the genetic counsellor, the next ten of a discussion involving a cancer geneticist and a psychologist. A short individual consultation ensues, where personal and family issues are addressed and consent obtained. Blood is drawn afterwards. Satisfaction and knowledge are evaluated. We report data for the Oct-2014-Aug-2015 period. 210 patients attended group counselling, up to eight simultaneously. We always fitted them within a 4-h time frame. Mean satisfaction score was 41/43. Knowledge scores increased from 3.1/6 to 4.9/6 post-counselling (p value counselling, we have withstood increases in referrals without compromising care. The "Angelina Jolie effect" and rapid developments in personalized medicine threaten to overwhelm cancer genetics clinics. In this context, our innovative approach should ensure that all patients have access to approved services.
Roggenbuck, J; Temme, R; Pond, D; Baker, J; Jarvis, K; Liu, M; Dugan, S; Mendelsohn, N J
Genetic counseling summary letters are intended to reinforce information received during genetic counseling, but little information is available on patient/family responses to these letters. We conducted a case-control study to assess the effectiveness of two different letter formats. Parents of children receiving a new diagnosis were enrolled. The control group (n = 85) received a genetic counseling summary letter in a narrative format, 4-5 pages in length. After the control enrollment period, genetic counselors were trained by a professional medical writer to develop a concise letter format. The case group (n = 64) received a concise letter, approximately 1.5 pages in length, utilizing simple sentences, lay terms, and lists/bullet points. Parents completed a survey 4 weeks after the visit to rate the letter's format, usefulness, and their emotional reaction. Results show that parents in the case group rated the letter more highly (p = 0.023), particularly in the emotional response dimension (rating changes in anxiety, depression, fear, ability to cope, and confidence in response to the letter). Parents in the case group also rated the genetic counseling session more highly (p = 0.039). In the control group, parents without a college degree were more likely to rate the letter as too long and the level of medical detail as too high. In the case group, no significant differences were seen between parents with or without a college degree. These data suggest that a short genetic counseling summary letter is rated higher by parents, and is particularly associated with a more positive emotional reaction. A short letter format highlighting the basic facts related to the genetic condition may be more useful to parents of diverse educational backgrounds, and may support a positive emotional adaptation at the time of a new diagnosis. Genetic counselors may benefit from specific instruction in medical and educational writing.
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...
Jacobs, Aryana S.; Schwartz, Marc D.; Valdimarsdottir, Heiddis; Nusbaum, Rachel H.; Hooker, Gillian W.; DeMarco, Tiffani A.; Heinzmann, Jessica E.; McKinnon, Wendy; McCormick, Shelley R.; Davis, Claire; Forman, Andrea D.; Lebensohn, Alexandra Perez; Dalton, Emily; Tully, Diana Moglia; Graves, Kristi D.; Similuk, Morgan; Kelly, Scott; Peshkin, Beth N.
Telephone genetic counseling (TC) for high-risk women interested in BRCA1/2 testing has been shown to yield positive outcomes comparable to usual care (UC; in-person) genetic counseling. However, little is known about how genetic counselors perceive the delivery of these alternate forms of genetic counseling. As part of a randomized trial of TC versus UC, genetic counselors completed a 5-item genetic counselor process questionnaire (GCQ) assessing key elements of pre-test sessions (information delivery, emotional support, addressing questions and concerns, tailoring of session, and facilitation of decision- making) with the 479 female participants (TC, N=236; UC, N=243). The GCQ scores did not differ for TC vs. UC sessions (t (477) = 0.11, p = 0.910). However, multivariate analysis showed that participant race/ethnicity significantly predicted genetic counselor perceptions (β = 0.172, pgenetic counselor ratings of session effectiveness were generally concordant with patient perceptions of the session. These data indicate that genetic counselors perceive that key components of TC can be delivered as effectively as UC, and that these elements may contribute to specific aspects of patient satisfaction. However, undefined process differences may be present which account for lower counselor perceptions about the effectiveness of their sessions with minority women (i.e., those other than non-Hispanic Whites). We discuss other potential clinical and research implications of our findings. PMID:26969308
McDonald, Eileen; Lamb, Amanda; Grillo, Barbara; Lucas, Lee; Miesfeldt, Susan
This work examined acceptability of cancer genetic counseling models of service delivery among Maine residents at risk for hereditary cancer susceptibility disorders. Pre-counseling, participants ranked characteristics reflecting models of care from most to least important including: mode-of-communication (in-person versus telegenetics), provider level of training (genetic specialty versus some training/experience), delivery format (one-on-one versus group counseling), and location (local versus tertiary service requiring travel). Associations between models of care characteristic rankings and patient characteristics, including rural residence, perceived cancer risk, and perceived risk for a hereditary cancer risk susceptibility disorder were examined. A total of 149/300 (49.7% response rate) individuals from 11/16 Maine counties responded; 30.8% were from rural counties; 92.2% indicated that an important/the most important model of care characteristic is provider professional qualifications. Among other characteristics, 65.1% ranked one-on-one counseling as important/the most important. In-person and local counseling were ranked the two least important characteristics (51.8% and 52.1% important/the most important, respectively). Responses did not vary by patient characteristics with the exception of greater acceptance of group counseling among those at perceived high personal cancer risk. Cancer telegenetic services hold promise for access to expert providers in a one-on-one format for rurally remote clients.
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
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.
Valverde, Kathleen; Mueller, Rebecca; Paciotti, Breah; Conway, Laura
Creation of an advanced degree in genetic counseling has been considered since the early 1980s. The Genetic Counseling Advanced Degree Task Force (GCADTF) was convened in 2012 to formally explore the potential suitability of a clinical doctorate (ClinD), though employer perspectives of advanced training were not part of the discussion. The conclusion of this group was that the field was not ready to move to an entry-level clinical doctorate at this time but that further education and research among other stakeholders was necessary (Nagy et al. 2014). In this study, we describe employers' perspectives on developing a clinical doctorate in genetic counseling based upon thirty audio-recorded semi-structured phone interviews that were transcribed verbatim and qualitatively analyzed. Overall, employers expressed concerns regarding the economic viability of ClinD training but envisioned expanded roles for genetic counselors (especially in areas of education and research) and enhanced credibility. While some employers reported that they would provide flexibility and tuition assistance for acquisition of a ClinD, for many employers, support was contingent on perceived value of the degree. Some employers were not clear about the difference between a ClinD and a PhD, suggesting that there is a need for educating employers about advanced degree options for the genetic counseling field. Future research could include investigating employer attitudes about market needs, envisioned roles, and compensation formulas for counselors with a ClinD or other forms of advanced training.
Baars, J E; van Dulmen, A M; Velthuizen, M E; Theunissen, E B M; Vrouenraets, B C; Kimmings, A N; van Dalen, T; van Ooijen, B; Witkamp, A J; van der Aa, M A; Ausems, M G E M
Certain ethnic groups seem to have less access to cancer genetic counseling. Our study was to investigate the participation in cancer genetic counseling among migrant breast cancer patients of Turkish and Moroccan origin. Hospital medical records of Turkish and Moroccan and of a comparative group of
Manchanda, Ranjit; Burnell, Matthew; Loggenberg, Kelly; Desai, Rakshit; Wardle, Jane; Sanderson, Saskia C; Gessler, Sue; Side, Lucy; Balogun, Nyala; Kumar, Ajith; Dorkins, Huw; Wallis, Yvonne; Chapman, Cyril; Tomlinson, Ian; Taylor, Rohan; Jacobs, Chris; Legood, Rosa; Raikou, Maria; McGuire, Alistair; Beller, Uziel; Menon, Usha; Jacobs, Ian
Newer approaches to genetic counselling are required for population-based testing. We compare traditional face-to-face genetic counselling with a DVD-assisted approach for population-based BRCA1/2 testing. A cluster-randomised non-inferiority trial in the London Ashkenazi Jewish population. Ashkenazi Jewish men/women >18 years; exclusion criteria: (a) known BRCA1/2 mutation, (b) previous BRCA1/2 testing and (c) first-degree relative of BRCA1/2 carrier. Ashkenazi Jewish men/women underwent pre-test genetic counselling prior to BRCA1/2 testing in the Genetic Cancer Prediction through Population Screening trial (ISRCTN73338115). Genetic counselling clinics (clusters) were randomised to traditional counselling (TC) and DVD-based counselling (DVD-C) approaches. DVD-C involved a DVD presentation followed by shorter face-to-face genetic counselling. Outcome measures included genetic testing uptake, cancer risk perception, increase in knowledge, counselling time and satisfaction (Genetic Counselling Satisfaction Scale). Random-effects models adjusted for covariates compared outcomes between TC and DVD-C groups. One-sided 97.5% CI was used to determine non-inferiority. relevance, satisfaction, adequacy, emotional impact and improved understanding with the DVD; cost-minimisation analysis for TC and DVD-C approaches. 936 individuals (clusters=256, mean-size=3.6) were randomised to TC (n=527, clusters=134) and DVD-C (n=409, clusters=122) approaches. Groups were similar at baseline, mean age=53.9 (SD=15) years, women=66.8%, men=33.2%. DVD-C was non-inferior to TC for increase in knowledge (d=-0.07; lower 97.5% CI=-0.41), counselling satisfaction (d=-0.38, 97.5% CI=1.2) and risk perception (d=0.08; upper 97.5% CI=3.1). Group differences and CIs did not cross non-inferiority margins. DVD-C was equivalent to TC for uptake of genetic testing (d=-3%; lower/upper 97.5% CI -7.9%/1.7%) and superior for counselling time (20.4 (CI 18.7 to 22.2) min reduction (pgenetic testing. 95
Afroze, B.; Jehan, F.
Objective: To assess the needs related to prenatal genetic counselling in a developing country. Methods: The prospective observational study was conducted at the Prenatal-Genetic Counselling Clinic of Aga Khan University Hospital, Karachi, from October 2007 to September 2010. In-depth interviews were conducted and the data was stored in the form of patient charts. Information was then extracted from the charts and entered into a structured questionnaire. Results: Of the 93 couples in the study, 49(53%) were in the self-referral group and 44(47%) were in the physician-referral group. Diagnosis was not given for previously affected children by the paediatrician or by obstetrician for recurrent miscarriages in 68(73%)cases. Besides, 20(22%) couples had voluntarily terminated a pregnancy without any tests because of the fear of having a diseased child. Eleven (12%) couples were looking for amniocentensis or chorionic villus sampling. Death in previous children was the main reason to seek genetic counselling and was seen in 57(61%) couples. Consanguinity was seen in 77(83%) couples. Conclusion: A clear deficiency of knowledge of genetics was seen among the non-genetic healthcare providers. Demand of antenatal genetic testing among the public was also seen, highlighting the need of diagnostic facility for genetic and metabolic disorders. However, this needs to be explored in the context of the existing healthcare infrastructure. (author)
Semaka, A; Hayden, M R
Intermediate alleles (IAs) for Huntington disease (HD) contain 27-35 CAG repeats, a range that falls just below the disease threshold of 36 repeats. While there is no firm evidence that IAs confer the HD phenotype, they are prone to germline CAG repeat instability, particularly repeat expansion when paternally transmitted. Consequently, offspring may inherit a new mutation and develop the disease later in life. Over the last 5 years there has been a renewed interest in IAs. This article provides an overview of the latest research on IAs, including their clinical implications, frequency, haplotype, and likelihood of CAG repeat expansion, as well as patient understanding and current genetic counselling practices. The implications of this growing evidence base for clinical practice are also highlighted. These evidence-based genetic counselling implications may help ensure individuals with an IA predictive test result receive appropriate support, education, and counselling. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Kirkpatrick, Brianne E; Rashkin, Misha D
Ancestry testing is a home DNA test with many dimensions; in some cases, the implications and outcomes of testing cross over into the health sphere. Common reasons for seeking ancestry testing include determining an estimate of customer's ethnic background, identifying genetic relatives, and securing a raw DNA data file that can be used for other purposes. As the ancestry test marketplace continues to grow, and third-party vendors empower the general public to analyze their own genetic material, the role of the genetic counselor is likely to evolve dramatically. Roles of the genetic counselor may include assisting clients with the interpretation of and adaptation to these results, as well as advising the companies involved in this sector on the ethical, legal, and social issues associated with testing. This paper reviews the history, fundamentals, intended uses, and unintended consequences of ancestry genetic testing. It also discusses the types of information in an ancestry testing result, situations that might involve a clinical genetic counselor, and the benefits, limitations, and functions that ancestry genetic testing can play in a clinical genetics setting.
The accelerated discovery of disease and susceptibility genes made possible by the sequencing of the human genome has brought new and exciting challenges ... Besides, as the use of genetics in clinical care has increased, both interest in and concern about the impact of genetic information on the life of individuals have ...
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
Giessen, J.A.M. van der; Riel, E. van; Veldhuizen, M.E.; Dulmen, A.M. van; 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
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
Warren, Nancy Steinberg
This introduction provides an overview of the professional issues and original research papers in this special issue. The articles address workforce challenges and/or cross-cultural education and communication with culturally and religiously diverse clients. Additional suggestions are made for moving the profession of genetic counseling toward diversity and cultural competence.
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
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
Kuhl, Ashley; Reiser, Catherine; Eickhoff, Jens; Petty, Elizabeth M
The cost of education is rising, increasing student financial aid and debt for students pursuing higher education. A few studies have assessed the impact of student debt in medicine, physical therapy and social work, but little is known about the impact of student debt on genetic counseling students and graduates. To address this gap in knowledge, a web-based study of 408 recent alumni of genetic counseling programs in North America was conducted to assess the impact of student debt on program, career and life choices. Over half (63 %; n = 256/408) of the participants reported that loans were extremely important in their ability to attend their training program, with most using subsidized loans no longer available to current graduate students. While participants were generally satisfied with their genetic counseling education, 83 % (n = 282/342) of participants with student debt reported feeling burdened by their debt, which had a median of $40,000-$50,000. This debt is relatively close to the median starting salary reported by survey participants ($45,000-$50,000), breaching the "20-10 rule" that states student debt should not exceed 20 % of annual net income. In response to this critical issue, we propose recommendations for the genetic counseling field that may help alleviate student debt impact and burden.
Salemink, S.; Dekker, N.; Kets, C.M.; Looij, E. van der; Zelst-Stams, W.A.G. van; Hoogerbrugge-van der Linden, N.
During cancer genetic counseling, different items which counselors consider important are discussed. However, relatively little empirical evidence exists regarding the needs and preferences of counselees. In this study needs and preferences were assessed from counselees with a personal and/or family
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.
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
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 under-represented community. PMID:25120034
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.
Hartmann, Julianne E; Veach, Patricia McCarthy; MacFarlane, Ian M; LeRoy, Bonnie S
Although some researchers have attempted to define genetic counseling practice goals, no study has obtained consensus about the goals from a large sample of genetic counselors. The Reciprocal-Engagement Model (REM; McCarthy Veach, Bartels & LeRoy, 2007) articulates 17 goals of genetic counseling practice. The present study investigated whether these goals could be generalized as a model of practice, as determined by a larger group of clinical genetic counselors. Accordingly, 194 genetic counselors were surveyed regarding their opinions about the importance of each goal and their perceptions of how frequently they achieve each goal. Mean importance ratings suggest they viewed every goal as important. Factor analysis of the 17 goals yielded four factors: Understanding and Appreciation, Support and Guidance, Facilitative Decision-Making, and Patient-Centered Education. Patient-Centered Education and Facilitative Decision-Making goals received the highest mean importance ratings. Mean frequency ratings were consistently lower than importance ratings, suggesting genetic counseling goals may be difficult to achieve and/or not applicable in all situations. A number of respondents provided comments about the REM goals that offer insight into factors related to implementing the goals in clinical practice. This study presents preliminary evidence concerning the validity of the goals component of the REM.
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.
Makransky, Guido; Bonde, Mads Tvillinggaard; Wulff, Julie S. G.
Background: 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...... in medicine, received a 2-hour 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...... feel more confident counseling a patient after the simulation. Conclusions: The simulation based learning environment increased students’ learning, intrinsic motivation, and self-efficacy (although the strength of these effects differed depending on their pre-test knowledge), and increased...
.... The objectives of this study are to develop a Culturally Tailored Genetic (CTGC) protocol for African American women and evaluate its impact on decision-making and satisfaction about BRCAl/2 testing, quality of life, and cancer control practices...
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.
I present a case study where the mother of a child with 22q11 deletion disorder appeared to be experiencing recurrent, intrusive worry associated with the inherent uncertainty of this highly variable condition. Counselling sessions are summarised followed by an in-depth reflection about the case with reference to the main therapeutic tenets of Acceptance and Commitment Therapy (ACT). Specific techniques which may have been of great benefit to the client and potential application in the genetic counselling setting are explored in the context of ACT.
Nowadays, women develop breast and ovarian cancer more and more early. Therefore, gynecologists and primary care physicians encounter the question, whether one of their patients has a genetic predisposition for cancer. They are crucial in initiating a referral for genetic counseling as well as in caring for high risk individuals coming up with questions concerning intensified cancer screening, chemoprevention or prophylactic surgery.This review presents the actual knowledge in these topics and delivers the molecular basis of hereditary breast and ovarian cancer mainly due to mutations in the genes BRCA1 and BRCA2. Problematic aspects of the penetrance of these gene mutations are shown and its role in counseling. The important details of the personal and family history, which influence the risk assessment, are pointed out. Tools for the risk calculation are presented as well as criteria for referral for genetic counseling. The important questions, which have to be addressed in pre- and post-test counseling, are discussed. Finally, the options for women with an inherited predisposition in order to reduce their cancer risk are presented. Each of the three management options 'intensified cancer screening', 'chemoprevention' and 'prophylactic surgery' is discussed thoroughly. Recommended cancer screening in male mutation carriers are mentioned as well.
Buchanan, Adam H; Datta, Santanu K; Skinner, Celette Sugg; Hollowell, Gail P; Beresford, Henry F; Freeland, Thomas; Rogers, Benjamin; Boling, John; Marcom, P Kelly; Adams, Martha B
Telegenetics-genetic counseling via live videoconferencing-can improve access to cancer genetic counseling (CGC) in underserved areas, but studies on cancer telegenetics have not applied randomized methodology or assessed cost. We report cost, patient satisfaction and CGC attendance from a randomized trial comparing telegenetics with in-person CGC among individuals referred to CGC in four rural oncology clinics. Participants (n = 162) were randomized to receive CGC at their local oncology clinic in-person or via telegenetics. Cost analyses included telegenetics system; mileage; and personnel costs for genetic counselor, IT specialist, and clinic personnel. CGC attendance was tracked via study database. Patient satisfaction was assessed 1 week post-CGC via telephone survey using validated scales. Total costs were $106 per telegenetics patient and $244 per in-person patient. Patient satisfaction did not differ by group on either satisfaction scale. In-person patients were significantly more likely to attend CGC than telegenetics patients (89 vs. 79 %, p = 0.03), with bivariate analyses showing an association between lesser computer comfort and lower attendance rate (Chi-square = 5.49, p = 0.02). Our randomized trial of telegenetics vs. in-person counseling found that telegenetics cost less than in-person counseling, with high satisfaction among those who attended. This study provides support for future randomized trials comparing multiple service delivery models on longer-term psychosocial and behavioral outcomes.
Kelly, Kimberly M; Ellington, Lee; Schoenberg, Nancy; Agarwal, Parul; Jackson, Thomas; Dickinson, Stephanie; Abraham, Jame; Paskett, Electra D; Leventhal, Howard; Andrykowski, Michael
Few studies have linked actual genetic counseling content to short-term outcomes. Using the Self-regulation Model, the impact of cognitive and affective content in genetic counseling on short-term outcomes was studied in individuals at elevated risk of familial breast-ovarian cancer. Surveys assessed dependent variables: distress, perceived risk, and 6 knowledge measures (Meaning of Positive Test; Meaning of Negative Test; Personal Behavior; Practitioner Knowledge; Mechanisms of Cancer Inheritance; Frequency of Inherited Cancer) measured at pre- and post-counseling. Proportion of participant cognitive and affective and counselor cognitive and affective content during sessions (using LIWC software) were predictors in regressions. Knowledge increased for 5 measures and decreased for Personal Behavior, Distress and Perceived Risk. Controlling for age and education, results were significant/marginally significant for three measures. More counselor content was associated with decreases in knowledge of Personal Behavior. More participant and less counselor affective content was associated with gains in Practitioner Knowledge. More counselor cognitive, and interaction of counselor cognitive and affective content, were associated with higher perceived risk. Genetic counselors dominate the content of counseling sessions. Therefore, their content is tied more closely to short term outcomes than participant content. A lack of patient communication in sessions may pose problems for understanding of complex concepts.
Sanborn, Erica; Patterson, Annette R
Over the past two decades, disability activists, ethicists, and genetic counselors have examined the moral complexities inherent in prenatal genetic counseling and considered whether and in what ways genetic counseling may negatively affect individuals in the disability community. Many have expressed concerns about defining disability in the context of prenatal decision-making, as the definition presented may influence prenatal choices. In the past few years, publications have begun to explore the responsibility of counselors in presenting a balanced view of disability and have questioned the preparedness of counselors for this duty. Currently, the Accreditation Council for Genetic Counseling (ACGC) only minimally includes disability training in their competencies for genetic counselors, and in their accreditation requirements for training programs. In an attempt to describe current practice, this article details two studies that assess disability training in ABGC-accredited genetic counseling programs. Results from these studies demonstrate that experience with disability is not required by the majority of programs prior to matriculation. Though most program directors agree on the importance of including disability training in the curriculum, there is wide variability in the amount and types of training students receive. Hours dedicated to disability exposure among programs ranged from 10 to 600 hours. Eighty-five percent of program directors surveyed agree that skills for addressing disability should be added to the core competencies. Establishing a set of disability competencies would help to ensure that all graduates have the skills necessary to provide patients with an accurate understanding of disability that facilitates informed decision-making. © 2014 Wiley Periodicals, Inc.
Diness, Birgitte Rode; Overbeck, Gritt; Hjortshøj, Tina Duelund; Hammer, Trine Bjørg; Timshel, Susanne; Sørensen, Else; McAllister, Marion
Outcome measurement in clinical genetics is challenging. Robust outcome measures are needed to provide evidence to support service development within genetic counseling. The Genetic Counselling Outcome Scale (GCOS-24), a Patient Reported Outcome Measure (PROM), was developed in English 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 in qualitative interviews focusing on instructions for use, response options and specific items considered semantically difficult. After further adjustment the adapted and translated version was administered to a second sample of patients, with responses analyzed using descriptive statistics. Eighteen interviews were conducted, and led to adjustment of item wording. Sixty-one patients completed the final version GCOS-24dk. Internal consistency is good (Cronbach's α =0.79), with an acceptable number of missing responses and no floor or ceiling effect observed. GCOS-24 has been successfully translated and adapted for use in a Danish setting. The study confirms the feasibility of local adaptation of patient reported outcome measures and stresses the importance of adaptation, even across quite similar populations and health care systems.
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.
.... The objectives of this study were to develop a Culturally Tailored Genetic (CTGC) protocol for African American women and evaluate its impact on decision-making and satisfaction about BRCA1/2 testing, quality of life, and cancer control practices...
.... The objectives of this study are to develop a Culturally Tailored Genetic (CTGC) protocol for African American women and evaluate its impact on decision-making and satisfaction about BRCA1/2 testing, quality of life, and cancer control practices...
Zilliacus, Elvira M; Meiser, Bettina; Lobb, Elizabeth A; Kelly, Patrick J; Barlow-Stewart, Kristine; Kirk, Judy A; Spigelman, Alan D; Warwick, Linda J; Tucker, Katherine M
Videoconferencing is increasingly used to deliver family cancer services for hereditary breast and ovarian cancer to outreach areas. This study compared the effectiveness and acceptability of genetic counseling for hereditary breast and ovarian cancer through videoconferencing (hereafter referred to as "telegenetics"). One hundred six women seen by telegenetics and 89 women seen face-to-face completed self-administered questionnaires before, and 1 month after, genetic counseling. Telegenetics consultations involved a genetic clinician via telegenetics in addition to a local genetic counselor present with the patient. No significant differences were found between telegenetics and face-to-face genetic counseling in terms of knowledge gained (P = 0.55), satisfaction with the genetic counseling service (P = 0.76), cancer-specific anxiety (P = 0.13), generalized anxiety (P = 0.42), depression (P = 0.96), perceived empathy of the genetic clinician (P = 0.13), and perceived empathy of the genetic counselor (P = 0.12). Telegenetics performed significantly better than face-to-face counseling in meeting patients' expectations (P = 0.009) and promoting perceived personal control (P = 0.031). Telegenetics seems to be an acceptable and effective method of delivering genetic counseling services for hereditary breast and ovarian cancer to underserved areas.
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.
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
Nayak, Shalini S; Shukla, Anju; Lewis, Leslie; Kadavigere, Rajagopal; Mathew, Mary; Adiga, Prashanth K; Vasudeva, Akhila; Kumar, Pratap; Shetty, Jyothi; Shah, Hitesh; Girisha, Katta M
We aimed to analyze the utility of fetal autopsy in terms of its contribution to establishing a definitive diagnosis and its impact on genetic counseling. Detailed fetal autopsy was carried out in fetuses referred for examination. Clinical utility of fetal autopsy and its impact on counseling were measured by adapting previously published parameters. We performed autopsy in 230 fetuses. There were 106 cases with single system and 92 cases with multisystem involvement. We confirmed prenatal findings in 23% of cases and observed additional findings in 37% of cases. In 23% of cases, autopsy findings differed enough to change the diagnosis. However, in 17% of fetuses, no cause of fetal loss was determined. Risk of recurrence became clear in 30.3% of the fetuses, and risk remained the same, but the diagnosis was different in 4.8% of cases after autopsy. Hence, autopsy led to refinement of the risk of recurrence in 36% of cases. Autopsy aided prenatal counseling of couples in 77% of cases by either confirming the prenatal findings (35%) or providing new information/ruling out a diagnosis (42%). The present study quantifies the utility of fetal autopsy in reproductive genetic counseling in a large cohort. © 2015 John Wiley & Sons, Ltd.
Steffen, Laurie E.; Brumbach, Barbara H.; Kohlmann, Wendy; Du, Ruofei; Lee, Ji-Hyun; Gammon, Amanda; Butler, Karin; Buys, Saundra S.; Stroup, Antoinette M.; Campo, Rebecca A.; Flores, Kristina G.; Mandelblatt, Jeanne S.; Schwartz, Marc D.
Purpose The ongoing integration of cancer genomic testing into routine clinical care has led to increased demand for cancer genetic services. To meet this demand, there is an urgent need to enhance the accessibility and reach of such services, while ensuring comparable care delivery outcomes. This randomized trial compared 1-year outcomes for telephone genetic counseling with in-person counseling among women at risk of hereditary breast and/or ovarian cancer living in geographically diverse areas. Patients and Methods Using population-based sampling, women at increased risk of hereditary breast and/or ovarian cancer were randomly assigned to in-person (n = 495) or telephone genetic counseling (n = 493). One-sided 97.5% CIs were used to estimate the noninferiority effects of telephone counseling on 1-year psychosocial, decision-making, and quality-of-life outcomes. Differences in test-uptake proportions for determining equivalency of a 10% prespecified margin were evaluated by 95% CIs. Results At the 1-year follow-up, telephone counseling was noninferior to in-person counseling for all psychosocial and informed decision-making outcomes: anxiety (difference [d], 0.08; upper bound 97.5% CI, 0.45), cancer-specific distress (d, 0.66; upper bound 97.5% CI, 2.28), perceived personal control (d, −0.01; lower bound 97.5% CI, −0.06), and decisional conflict (d, −0.12; upper bound 97.5% CI, 2.03). Test uptake was lower for telephone counseling (27.9%) than in-person counseling (37.3%), with the difference of 9.4% (95% CI, 2.2% to 16.8%). Uptake was appreciably higher for rural compared with urban dwellers in both counseling arms. Conclusion Although telephone counseling led to lower testing uptake, our findings suggest that telephone counseling can be effectively used to increase reach and access without long-term adverse psychosocial consequences. Further work is needed to determine long-term adherence to risk management guidelines and effective strategies to boost
Genetic counselling for inherited neurological diseases has been established at the Clinic for Neurology of Karl Marx University. Comprehensive experiences have been got with the specific and sometimes markedly different problems and aims of counselling in Wilsons disease, X-linked recessive muscular dystrophies, myotonic dystrophy and other neuromuscular disorders, Huntingtons chorea and hereditary ataxias.
Porter, Janice A.; And Others
The article describes the response of 55 blind and partially sighted teenagers to genetic counseling and outlines their knowledge of their disability and their attitudes towards marriage and parenthood. It was concluded that the counseling was not cost-effective though such services were welcomed by the teenagers. (Author/DB)
Mackay, J; Szecsei, C M
Since the identification of BRCA 1 and 2 in 1995, testing for mutations in these genes has been offered to cancer patients and their families by clinical genetics services. These services are provided across Europe by a small number of health professionals, and are therefore low volume, and low capacity and patients experience considerable delays, both in seeing a clinician and in laboratory testing. The UK private sector, driven by consumer demand and professional competition, has significantly reduced these delays. The development of a new class of therapeutic agent, the PARP inhibitors, is likely to drive the BRCA testing services towards the UK private sector model with much faster turnaround times. Several new genetic tests are now available including CYP 2D6 genotype analysis and the BCtect test. The clinical interpretation of these tests is complex, and the professional community has been naturally cautious about adopting new tests in clinical care. This article will examine the consequences of expected changes in BRCA testing practice, and consider the positioning of new tests in the patient pathway, and the messages given by health professionals.
Guilam, Maria Cristina R; Corrêa, Marilena C D V
Genetic counselling is an important aspect of prenatal care in many developed countries. This tendency has also begun to emerge in Brazil, although few medical centres offer this service. Genetic counselling provides prenatal risk control through a process of individual decision-making based on medical information, in a context where diagnostic and therapeutic possibilities overlap. Detection of severe foetal anomalies can lead to a decision involving possible termination of pregnancy. This paper focuses on medical and legal consequences of the detection of severe foetal anomalies, mainly anencephaly and Down syndrome, and in light of the fact that abortion is illegal in Brazil. The discussion is based on the literature and empirical research at a high-complexity public hospital in Rio de Janeiro.
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.
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
Guimarães, Lídia; Sequeiros, Jorge; Skirton, Heather; Paneque, Milena
Genetic counselling must be offered in the context of presymptomatic testing (PST) for severe late-onset diseases; however, effective genetic counselling is not well defined, and measurement tools that allow a systematic evaluation of genetic practice are still not available. The aims of this qualitative study were to (1) recognize relevant aspects across the whole process of genetic counselling in PST for late-onset neurodegenerative disorders that might indicate effective practice from the consultand's perspective; and (2) analyse aspects of current protocols of counselling that might be relevant for successful practice. We interviewed 22 consultands undergoing PST for late-onset neurological disorders (Huntington disease, spinocerebellar ataxias and familial amyloid polyneuropathy ATTRV30M) in the three major counselling services for these diseases in Portugal. The main themes emerging from the content analysis were (1) the consultand's general assessment of the PST process in genetic services; (2) appropriateness and adaptation of the protocol to the consultand's personal expectations and needs; and (3) consultand's experience of the decision-making process and the role of engagement and counselling skills of the counsellor. Participants also provided a set of recommendations and constructive criticisms relating to the length of the protocol, the time gap between consultations and the way results were delivered. These issues and the construction of the relationship between counsellor and counselee should be further investigated and used for the improvement of current protocols of counselling.
Nouri, Narges; Nouri, Nayereh; Tirgar, Samane; Soleimani, Elham; Yazdani, Vida; Zahedi, Farzaneh; Larijani, Bagher
Consanguineous marriage, which is common in many regions in the world, has absorbed much attention as a causative factor in raising the incidence of genetic diseases. The adverse effects may be attributed to the expression of the genes received from common ancestors and mortality and morbidity of the offspring. Iran has a high rate of consanguineous marriages. In recent years genetic counseling has come to be considered in health care services. This cross-sectional study was conducted in order to determine the prevalence and types of consanguineous marriages in the genetic clinics in Isfahan. We aimed to define the different types of marriages, specific categories of genetic disorders associated with consanguineous marriages, and mode of inheritance in the family tree. We also narratively reviewed the ethical aspects of the issue. The data were collected using a simple questionnaire. A total number of 1535 couples from urban and rural areas formed the study population. The marriages were classified according to the degree of the relationship between couples, including: double cousin, first cousin, first cousin once removed, second cousin and beyond second cousin. The SPSS software version 16 was used for data analysis. Data obtained through genetic counseling offered during a 5-year period revealed that 74.3% had consanguineous relationships, 62.3% were first cousins, 1% were double cousins and 7.8% were second cousins. In addition, 76% of the couples had at least one genetic disease in their family tree. Related ethical issues were also considered in this study, including autonomy and informed decision making, benefit and harm assessment, confidentiality, ethics in research, justice in access to counseling services, financial problems ethics, and the intellectual property of scientific success. PMID:29416832
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
Infertility affects 15% of couples at reproductive age and human male infertility appears frequently idiopathic. The main genetic causes of spermatogenesis defect responsible for non-obstructive azoospermia and severe oligozoospermia are constitutional chromosomal abnormalities and microdeletions in the azoospermia factor region of the Y chromosome. The improvement of the Yq microdeletion screening method gave new insights in the mechanism responsible for the genesis of Yq microdeletions and for the consequences of the management of male infertility and genetic counselling in case of assisted reproductive technology. Copyright © 2014 Elsevier Masson SAS. All rights reserved.
Peshkin, Beth N.; Kelly, Scott; Nusbaum, Rachel H.; Similuk, Morgan; DeMarco, Tiffani A.; Hooker, Gillian W.; Valdimarsdottir, Heiddis B.; Forman, Andrea D.; Joines, Jessica Rispoli; Davis, Claire; McCormick, Shelley R.; McKinnon, Wendy; Graves, Kristi D.; Isaacs, Claudine; Garber, Judy; Wood, Marie; Jandorf, Lina; Schwartz, Marc D.
Telephone genetic counseling (TC) for hereditary breast/ovarian cancer risk has been associated with positive outcomes in high risk women. However, little is known about how patients perceive TC. As part of a randomized trial of TC versus usual care (UC; in-person genetic counseling), we compared high risk women’s perceptions of: (1) overall satisfaction with genetic counseling; (2) convenience; (3) attentiveness during the session; (4) counselor effectiveness in providing support; and (5) counselor ability to recognize emotional responses during the session. Among the 554 participants (TC, N=272; UC, N=282), delivery mode was not associated with self-reported satisfaction. However, TC participants found counseling significantly more convenient than UC participants (OR = 4.78, 95% CI = 3.32, 6.89) while also perceiving lower levels of support (OR=0.56, 95% CI=0.40–0.80) and emotional recognition (OR = 0.53, 95% CI = 0.37–0.76). In exploratory analyses, we found that non-Hispanic white participants reported higher counselor support in UC than in TC (69.4% vs. 52.8%; OR = 3.06, 95% CI = 1.39–6.74), while minority women perceived less support in UC vs. TC (58.3% vs. 38.7%; OR = 0.80, 95% CI = 0.39–1.65). We discuss potential research and practice implications of these findings which may further improve the effectiveness and utilization of TC. PMID:26455498
Stoll, Katie; Kubendran, Shobana; Cohen, Stephanie A
Precision medicine aims to approach disease treatment and prevention with consideration of the variability in genes, environment, and lifestyle for each person. This focus on the individual is also key to the practice of genetic counseling, whereby foundational professional values prioritize informed and autonomous patient decisions regarding their genetic health. Genetic counselors are ideally suited to help realize the goals of the precision medicine. However, a limited genetic counseling workforce at a time in which there is a rapidly growing need for services is challenging the balance of supply and demand. This article provides historical context to better understand what has informed traditional models of genetic counseling and considers some of the current forces that require genetic counselors to adapt their practice. New service delivery models can improve access to genetic healthcare by overcoming geographical barriers, allowing genetic counselors to see a higher volume of patients and supporting other healthcare providers to better provide genetic services to meet the needs of their patients. Approaches to genetic counseling service delivery are considered with a forward focus to the challenges and opportunities that lie ahead for genetic counselors in this age of precision health. © 2018 Wiley Periodicals, Inc.
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.
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.
Amara, Nabil; Blouin-Bougie, Jolyane; Jbilou, Jalila; Halilem, Norrin; Simard, Jacques; Landry, Réjean
The aim of this paper is twofold: to analyze the genetic counseling process for breast cancer with a theoretical knowledge transfer lens and to compare generalists, medical specialists, and genetic counselors with regards to their genetic counseling practices. This paper presents the genetic counseling process occurring within a chain of value-adding activities of four main stages describing health professionals' clinical practices: (1) evaluation, (2) investigation, (3) information, and (4) decision. It also presents the results of a cross-sectional study based on a Canadian medical doctors and genetic counselors survey (n = 176) realized between July 2012 and March 2013. The statistical exercise included descriptive statistics, one-way ANOVA and post-hoc tests. The results indicate that even though all types of health professionals are involved in the entire process of genetic counseling for breast cancer, genetic counselors are more involved in the evaluation of breast cancer risk, while medical doctors are more active in the decision toward breast cancer risk management strategies. The results secondly demonstrate the relevance and the key role of genetic counselors in the care provided to women at-risk of familial breast cancer. This paper presents an integrative framework to understand the current process of genetic counseling for breast cancer in Canada, and to shed light on how and where health professionals contribute to the process. It also offers a starting point for assessing clinical practices in genetic counseling in order to establish more clearly where and to what extent efforts should be undertaken to implement future genetic services.
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.
Anderson, B.; McLosky, J.; Wasilevich, E.; Callo, S. L.; Duquette, D.; Copeland, G.
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.
Hershberger, Ray E.; Cowan, Jason; Morales, Ana; Siegfried, Jill D.
Summary This review focuses on the genetic cardiomyopathies: principally dilated cardiomyopathy (DCM), with salient features of hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), regarding genetic etiology, genetic testing, and genetic counseling. Enormous progress has recently been made in identifying genetic causes for each cardiomyopathy, and key phenotype and genotype information is reviewed. Clinical genetic testing is rapidly emerging with a principal rationale of identifying at-risk asymptomatic or disease-free relatives. Knowledge of a disease-causing mutation can guide clinical surveillance for disease onset, thereby enhancing preventive and treatment interventions. Genetic counseling is also indicated for patients and their family members regarding the symptoms of their cardiomyopathy, its inheritance pattern, family screening recommendations, and genetic testing options and possible results. PMID:19808347
Rodrigues, Fidjy; Paneque, Milena; Reis, Cláudia; Venâncio, Margarida; Sequeiros, Jorge; Saraiva, Jorge
Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the etiology of the deafness and to provide genetic counseling. Consequently, there are no published studies of the prior beliefs of parents about the causes of hereditary deafness of their children and their genetic knowledge after receipt of genetic counseling. In order to evaluate the impact of genetic counseling, 44 parents of 24 children with the diagnosis of non-syndromic sensorineural prelingual deafness due to mutations in the GJB2 (connexin 26), completed surveys before and after genetic counseling. Before counseling 13.6 % of the parents knew the cause of deafness; at a post-counseling setting this percentage was significantly higher, with 84.1 % of the parents accurately identifying the etiology. No significant differences were found between the answers of mothers and fathers either before or after genetic counseling. Parents' level of education was a significant factor in pre-test knowledge. After genetic counseling 95.5 % of the parents stated that the consultation had met their expectations, 70.5 % remembered correctly the inheritance pattern, and 93.2 % correctly recalled the chance of risk of deafness. These results underline the importance of genetic counseling in demystifying parents' beliefs about the etiology of their children's deafness.
Christinat, Alexandre; Pagani, Olivia
In unselected populations, less than 10% of breast cancers are associated with germline mutations in predisposing genes. Breast cancer type 1 and 2 (BRCA1 and BRCA2) susceptibility genes are the most common involved genes and confer a 10-30 times higher risk of developing the disease compared to the general population. A personal or family history suggestive of inherited breast cancer syndrome may be further evaluated to assess the risk of genetic predisposition and the presence of a genetic mutation. Breast cancer genetic counseling should include a careful risk assessment with associated psychosocial evaluation and support, possible molecular testing, personalized discussion of results. Knowledge of BRCA status can influence individualized cancer risk-reduction strategies. i.e. active surveillance, prophylactic surgery and/or pharmacoprevention. Copyright © 2013 Elsevier Ltd. All rights reserved.
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
Smith, Anna Jo; Oswald, Donald; Bodurtha, Joann
Access to genetic counseling is increasingly important to guide families' and clinicians' decision making, yet there is limited research on accessibility and affordability of counseling for families with children with special health care needs (CSHCN). Our study's objectives were to measure changes in unmet need for genetic counseling for CSHCN from 2001 to 2010 and to characterize child, family, and health system factors associated with unmet need. We used parent-reported data from the 2001, 2005-2006, and 2009-2010 National Survey of Children With Special Health Care Needs. We used a logistic regression model to measure the impact of survey year, child (sex, age, severity of health condition), family (primary language, household income, insurance, financial problems related to cost of CSHCN's health care), and health system factors (region, genetic counselors per capita, having a usual source of care) on access to genetic counseling. Unmet need for genetic counseling increased significantly in 2009-2010 compared to 2001 (odds ratio 1.89; 95% confidence interval [CI] 1.44-2.47). Being older (adjusted odds ratio [aOR] 1.04; 95% CI 1.02-1.06), having severe health limitations (aOR 1.72; 95% CI 1.16-2.58), being uninsured (aOR 3.56; 95% CI 2.16-5.87), and having family financial problems due to health care costs (aOR 1.90; 95% CI 1.52-2.38) were significantly associated with greater unmet need for genetic counseling. Having a usual source of care was associated with decreased unmet need (aOR 0.55; 95% CI 0.37-0.83). Unmet need for genetic counseling has increased over the past 12 years. Uninsurance and financial problems related to health care costs were the largest drivers of unmet need over time. Copyright © 2015 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.
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Mette, Lindsey A; Saldívar, Anna Maria Pulido; Poullard, Natalie E; Torres, Ivette C; Seth, Sarah G; Pollock, Brad H; Tomlinson, Gail E
Breast and colorectal cancers are common cancers for which genetic risk assessment and counseling are available. However, these services are often limited to metropolitan areas and are not readily accessible to underserved populations. Moreover, ethnic and racial disparities present additional obstacles to identifying and screening high-risk individuals and have a bearing on treatment outcomes. To provide cancer genetic risk assessment and counseling through telemedicine to the remote, underserved primarily Hispanic population of the Texas-Mexico border region. Program participants were mailed a questionnaire to assess their satisfaction with the program so that we could determine the acceptability of video-teleconferencing for cancer risk assessment. The overall level of satisfaction with the program was very high, demonstrating the acceptability of a cancer genetic risk assessment program that relied on telemedicine to reach and underserved minority community. Delivery model requires the availability of and access to communication technologies; trained staff are needed at remote sites for sample collection and patient handling. Video-teleconferencing is an acceptable method of providing cancer risk assessment in a remote, underserved population. ©2016 Frontline Medical Communications.
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
Dekker, N.; Dorst, E.B. van; Luijt, R.B. van der; Gijn, M.E. van; Tuil, M. van; Offerhaus, J.A.; Ausems, M.G.E.M.
Referral of patients with endometrial (EC) and/or ovarian cancer (OC) for genetic counseling is based on age at diagnosis and family history. Many patients with hereditary cancers are missed by following this strategy. We determined acceptance and mutation detection rate of offering 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.
Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Sinsheimer, Janet S.
Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. 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. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results. PMID:25375116
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.
Goldman, Jill S; Huey, Edward D; Thorne, Deborah Z
Hereditary neurodegenerative diseases can present with a psychiatric prodrome that overlaps with psychiatric symptoms that are not primary to these diseases. When individuals present for predictive testing while experiencing such symptoms, clinicians including genetic counselors, must proceed with caution and evaluate each situation on a case-by-case basis. Legitimate reasons may exist for moving forward with testing. Additionally predicting the consequences of testing is unrealistic so that the clinicians must do their best to prepare patients for both positive and negative results. A multidisciplinary team following the Huntington disease protocol remains the gold standard care for predictive testing for such patients. We discuss 3 case histories that demonstrate the complex nature of genetic counseling and testing in the presence of psychiatric symptoms, whether emanating from the disease itself or the results of living in an affected family.
Bruno Lucas Saliba de Paula
Full Text Available The aim of this paper is to compare the genetic counselling (GC with the eugenic policies of the early twentieth century. We perform an analysis of how GC is portrayed by the Brazilian press as well as a theoretical discussion about the configurations of biopower in a biotechnological context. Our results indicate that while eugenics was practiced by States that disciplined individual conduct and regulated its populations to "improve the human race", the GC relates to the neoliberal governmentality’s and to the society of control rationalities. It happens because the GC takes place in a context in which government, market and experts modulate the probabilities and risks associated to individuals who, as "entrepreneurs of themselves", need to manage their genetic capital and are considered as customers and stakeholders, and not only patients and citizens.
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.
Xu, Xiao-Feng; Wang, Yan; Wang, Yan-Yan; Song, Ming; Xiao, Wen-Gang; Bai, Yun
Genetic diseases represent a significant public health challenge in China that will need to be addressed by a correspondingly large number of professional genetic counselors. However, neither an official training program for genetic counseling, nor formal board certification, was available in China before 2015. In 2009, a genetic counseling training program based on role-playing was implemented as a pilot study at the Third Military Medical University to train third-year medical students. Questionnaires on participant attitudes to the program and role-playing were randomly administered to 324 students after they had finished their training. Pre- and post-training instructional tests, focusing on 42 key components of genetic counseling, were administered randomly to 200 participants to assess mastery of each component. Finally, scores in final examinations of 578 participants from 2009 to 2011 were compared to scores obtained by 614 non-participating students from 2006 to 2008 to further assess program efficacy. Both the training program and the instructional strategy of role-playing were accepted by most participants. Students believed that role-playing improved their practice of genetic counseling and medical genetics, enhanced their communication skills, and would likely contribute to future professional performance. The average understanding of 40 of the key points in genetic counseling was significantly improved, and most students approached excellent levels of mastery. Scores in final examinations and the percentages of students scoring above 90 were also significantly elevated. Role-playing is a feasible and effective instructional strategy for training genetic counselors in China as well as in other developing countries.
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.
Schwartz, Marc D; Valdimarsdottir, Heiddis B; Peshkin, Beth N; Mandelblatt, Jeanne; Nusbaum, Rachel; Huang, An-Tsun; Chang, Yaojen; Graves, Kristi; Isaacs, Claudine; Wood, Marie; McKinnon, Wendy; Garber, Judy; McCormick, Shelley; Kinney, Anita Y; Luta, George; Kelleher, Sarah; Leventhal, Kara-Grace; Vegella, Patti; Tong, Angie; King, Lesley
Although guidelines recommend in-person counseling before BRCA1/BRCA2 gene testing, genetic counseling is increasingly offered by telephone. As genomic testing becomes more common, evaluating alternative delivery approaches becomes increasingly salient. We tested whether telephone delivery of BRCA1/2 genetic counseling was noninferior to in-person delivery. Participants (women age 21 to 85 years who did not have newly diagnosed or metastatic cancer and lived within a study site catchment area) were randomly assigned to usual care (UC; n = 334) or telephone counseling (TC; n = 335). UC participants received in-person pre- and post-test counseling; TC participants completed all counseling by telephone. Primary outcomes were knowledge, satisfaction, decision conflict, distress, and quality of life; secondary outcomes were equivalence of BRCA1/2 test uptake and costs of delivering TC versus UC. TC was noninferior to UC on all primary outcomes. At 2 weeks after pretest counseling, knowledge (d = 0.03; lower bound of 97.5% CI, -0.61), perceived stress (d = -0.12; upper bound of 97.5% CI, 0.21), and satisfaction (d = -0.16; lower bound of 97.5% CI, -0.70) had group differences and confidence intervals that did not cross their 1-point noninferiority limits. Decision conflict (d = 1.1; upper bound of 97.5% CI, 3.3) and cancer distress (d = -1.6; upper bound of 97.5% CI, 0.27) did not cross their 4-point noninferiority limit. Results were comparable at 3 months. TC was not equivalent to UC on BRCA1/2 test uptake (UC, 90.1%; TC, 84.2%). TC yielded cost savings of $114 per patient. Genetic counseling can be effectively and efficiently delivered via telephone to increase access and decrease costs.
Kladny, Beth; Williams, Andrea; Gupta, Ashish; Gettig, Elizabeth A; Krishnamurti, Lakshmanan
The primary purpose of newborn screening for hemoglobinopathies is the presymptomatic diagnosis and early treatment of sickle cell disease. Hemoglobinopathy traits detected on the newborn screening provide an opportunity for genetic counseling of families regarding the trait and information that may impact reproductive decisions of the parents. We describe the results of a study to determine the impact of newborn screening and genetic counseling on the lives of families in which an abnormal hemoglobin trait had been identified. From June 2003 to December 2009, families of children with trait attending a clinic visit and receiving professional genetic counseling were asked to participate in a semistructured follow-up survey regarding their experience and the impact of genetic counseling on their families. Of the 300 patients seen in clinic during the specified time period, 209 consented to be recontacted and 114 have completed the survey. Eighty-five percent of responders reported knowing that the newborn screen had been performed, but only 55% understood the purpose of newborn screening. When asked about the effect of finding out that trait was present in their baby, 19% reported feeling guilty or upset, whereas 4% believed that their partner blamed them for the child's results. That genetic counseling was found to be beneficial was indicated by the fact that 99% reported that their questions were answered, 82% reported feeling less anxious, and 78% discussed the trait with their partner after the appointment. Genetic counseling after newborn screening relieves anxiety, provides knowledge, facilitates dialog within families and between partners about hemoglobinopathy trait, and was seen as a positive experience for the majority of responders.
Elsas, Caroline Rung; Schwind, Elinor Langfelder; Hercher, Laura; Smith, Michael J; Young, Kara Gardner
This project aimed to explore the attitudes of prenatal genetic counselors toward discussion of novel approved and experimental CF treatments in the prenatal setting, and to assess how knowledge of genotype-specific, targeted treatments may influence their current practices. Targeted treatments have the potential to impact the health-related quality of life of individuals affected with CF and therefore, knowledge of the availability of such treatments may influence the decision-making process of parents who receive a fetal diagnosis of CF. Using the 2012 FDA approval and introduction of ivacaftor into CF clinical practice as a case study, a survey was designed to explore the opinions and practices of prenatal genetic counselors with regard to counseling for a prenatal diagnosis of CF, and how those practices might be impacted by the availability of a new genotype-specific treatment. Approximately 800 genetic counselors were sent questionnaires in January of 2013. Respondents were provided information about this treatment and were asked to rate its perceived benefits, along with the likelihood that they would discuss potential benefits and limitations with parents receiving a prenatal diagnosis of CF. One-hundred sixty-nine prenatal genetic counselors (21.1 %) responded to the survey. Results indicated that 80 % of respondents 'never heard of the drug', or they were 'not exactly sure' what it was. After reading the materials provided, counselors felt the new treatment would have 'some' or a 'significant' impact on an affected individual's life. Their opinions varied on what information about this treatment they would choose to discuss with their patients; even if the treatment is currently FDA approved and clinically available for affected individuals with the genotype of the fetus. However, they would 'definitely' refer these patients to a specialist to discuss targeted treatments further. Most prenatal genetic counselors indicated there are certain scenarios in
Full Text Available Abstract Background Despite the fact that genetic counseling in oncology provides information regarding objective risks, it can be found a contrast between the subjective and objective risk. The aims of this study were to evaluate the accuracy of the perceived risk compared to the objective risk estimated by the BRCApro computer model and to evaluate any associations between medical, demographic and psychological variables and the accuracy of risk perception. Methods 130 subjects were given medical-demographic file, Cancer and Genetic Risk Perception, Hospital Anxiety-Depression Scale. It was also computed an objective evaluation of the risk by the BRCApro model. Results The subjective risk was significantly higher than objective risk. The risk of tumour was overestimated by 56%, and the genetic risk by 67%. The subjects with less cancer affected relatives significantly overestimated their risk of being mutation carriers and made a more innacurate estimation than high risk subjects. Conclusion The description of this sample shows: general overestimation of the risk, inaccurate perception compared to BRCApro calculation and a more accurate estimation in those subjects with more cancer affected relatives (high risk subjects. No correlation was found between the levels of perception of risk and anxiety and depression. Based on our findings, it is worth pursuing improved communication strategies about the actual cancer and genetic risk, especially for subjects at "intermediate and slightly increased risk" of developing an hereditary breast and/or ovarian cancer or of being mutation carrier.
Tozzo, Pamela; Caenazzo, Luciana; Parker, Michael J
Misattributed paternity or 'false' paternity is when a man is wrongly thought, by himself and possibly by others, to be the biological father of a child. Nowadays, because of the progression of genetics and genomics the possibility of finding misattributed paternity during familial genetic testing has increased. In contrast to other medical information, which pertains primarily to individuals, information obtained by genetic testing and/or pedigree analysis necessarily has implications for other biologically related members in the family. Disclosing or not a misattributed paternity has a number of different biological and social consequences for the people involved. Such an issue presents important ethical and deontological challenges. The debate centres on whether or not to inform the family and, particularly, whom in the family, about the possibility that misattributed paternity might be discovered incidentally, and whether or not it is the duty of the healthcare professional (HCP) to disclose the results and to whom. In this paper, we consider the different perspectives and reported problems, and analyse their cultural, ethical and legal dimensions. We compare the position of HCPs from an Italian and British point of view, particularly their role in genetic counselling. We discuss whether the Oviedo Convention of the Council of Europe (1997) can be seen as a basis for enriching the debate.
Geller, G; Tambor, E S; Chase, G A; Hofman, K J; Faden, R R; Holtzman, N A
To determine, by response to a scenario, how willing primary care physicians would be to counsel a couple about prenatal diagnosis of cystic fibrosis and how directive they would be about whether the couple should undergo prenatal diagnosis and whether the couple should terminate the pregnancy if the fetus is affected. Survey of a random sample of primary care physicians, psychiatrists, and genetics professionals in 10 geographically representative states. Sixty-five percent (N = 1140) of 1759 obstetricians, pediatricians, internists, family practitioners, and psychiatrists, and 79% (N = 280) of medical geneticists and genetic counselors. Respondents were evenly divided on whether they would counsel about prenatal diagnosis or refer to a genetic counselor (49.4% and 50.6%, respectively). Those who indicated that they would counsel were likely to have greater knowledge about genetics, greater confidence in communicating about genetics, and higher tolerance for ambiguity and were more likely to have completed their medical training since 1971 and to practice in a rural area. Forty-four percent of physicians would give an opinion about prenatal diagnosis. Men would be more likely to give an opinion than women (P < .005). Only 9.6% of respondents would give an opinion regarding abortion. These respondents were more likely to come from specialties with less exposure to genetics and to value attendance at religious services. Primary care physicians were more likely to give their opinions about prenatal diagnosis and abortion than genetics professionals. To the extent that attitudes are reflected in practice, genetic counseling may be more directive when provided by primary care physicians than by genetics professionals, unless primary care physicians' growing involvement in genetics changes their attitudes.
Redlinger-Grosse, Krista; Veach, Patricia McCarthy; LeRoy, Bonnie S; Zierhut, Heather
As the genetic counseling field evolves, a comprehensive model of practice is critical. The Reciprocal-Engagement Model (REM) consists of 5 tenets and 17 goals. Lacking in the REM, however, are well-articulated counselor strategies and behaviors. The purpose of the present study was to further elaborate and provide supporting evidence for the REM by identifying and mapping genetic counseling strategies to the REM goals. A secondary, qualitative analysis was conducted on data from two prior studies: 1) focus group results of genetic counseling outcomes (Redlinger-Grosse et al., Journal of Genetic Counseling, 2015); and 2) genetic counselors' examples of successful and unsuccessful genetic counseling sessions (Geiser et al. 2009). Using directed content analysis, 337 unique strategies were extracted from focus group data. A Q-sort of the 337 strategies yielded 15 broader strategy domains that were then mapped to the successful and unsuccessful session examples. Differing prevalence of strategy domains identified in successful sessions versus the prevalence of domains identified as lacking in unsuccessful sessions provide further support for the REM goals. The most prevalent domains for successful sessions were Information Giving and Use Psychosocial Skills and Strategies; and for unsuccessful sessions, Information Giving and Establish Working Alliance. Identified strategies support the REM's reciprocal nature, especially with regard to addressing patients' informational and psychosocial needs. Patients' contributions to success (or lack thereof) of sessions was also noted, supporting a REM tenet that individual characteristics and the counselor-patient relationship are central to processes and outcomes. The elaborated REM could be used as a framework for certain graduate curricular objectives, and REM components could also inform process and outcomes research studies to document and further characterize genetic counselor strategies.
Voils, Corrine I; Coffman, Cynthia J; Grubber, Janet M; Edelman, David; Sadeghpour, Azita; Maciejewski, Matthew L; Bolton, Jamiyla; Cho, Alex; Ginsburg, Geoffrey S; Yancy, William S
We examined the clinical utility of supplementing type 2 diabetes mellitus (DM) risk counseling with DM genetic test results and counseling. In this randomized controlled trial, non-diabetic overweight/obese veteran outpatients aged 21 to 65 years received DM risk estimates for lifetime risk, family history, and fasting plasma glucose, followed by either genetic test results (CR+G; N = 303) or control eye disease counseling (CR+EYE; N = 298). All participants received brief lifestyle counseling encouraging weight loss to reduce the risk of DM. The mean age was 54 years, 53% of participants were black, and 80% were men. There was no difference between arms in weight (estimated mean difference between CR+G vs. CR+EYE at 3 months = 0.2 kg, 95% CI: -0.3 to 0.7; at 6 months = 0.4 kg, 95 % CI: -0.3 to 1.1), insulin resistance, perceived risk, or physical activity at 3 or 6 months. Calorie and fat intake were lower in the CR+G arm at 3 months (p's ≤ 0.05) but not at 6 months (p's > 0.20). Providing patients with genetic test results was not more effective in changing patient behavior to reduce the risk of DM compared to conventional risk counseling. ClinicalTrials.gov NCT01060540 http://clinicaltrials.gov/show/NCT01060540.
Baars, J E; van Dulmen, A M; Velthuizen, M E; van Riel, E; Ausems, M G E M
Lower participation rates in cancer genetic counseling are observed among different ethnic minorities. The goal of our study is to gain insight into determinants of Turkish and Moroccan patients' participation in breast cancer genetic counseling and DNA testing, from the point of view of healthcare
Baars, J.E.; Dulmen, S. van; Veldhuizen, M.E. van; Riel, E. van; Ausems, M.G.E.M.
Abstract Lower participation rates in cancer genetic counseling are observed among different ethnic minorities. The goal of our study is to gain insight into determinants of Turkish and Moroccan patients’ participation in breast cancer genetic counseling and DNA testing, from the point of view of
Baars, J.E.; Dulmen, A.M. van; Velthuizen, M.E.; Riel, E. van; Ausems, M.G.E.M.
Lower participation rates in cancer genetic counseling are observed among different ethnic minorities. The goal of our study is to gain insight into determinants of Turkish and Moroccan patients' participation in breast cancer genetic counseling and DNA testing, from the point of view of healthcare
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
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
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.
Fonda Allen, Jill; Stoll, Katie; Bernhardt, Barbara A
Genetic carrier screening, prenatal screening for aneuploidy, and prenatal diagnostic testing have expanded dramatically over the past 2 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. Copyright © 2016 Elsevier Inc. All rights reserved.
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
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
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
Omaggio, NinaMarie F; Baker, Maria J; Conway, Laura J
Patients and healthcare providers are becoming increasingly connected via social media, bringing new opportunities and challenges. Direct connection can occur between patients and providers using online tools such as Facebook and LinkedIn. In addition, providers can gather information about patients using a search engine such as Google, referred to as patient-targeted Googling (PTG). An online 54-item survey was used to gain information on (1) how and to what extent genetic counseling students and genetic counselors connect directly with patients via social media sites, and (2) gather information on providers using PTG. Four hundred genetic counseling students and genetic counselors participated in the survey. The majority of respondents (88.9%; n = 344/387) find it is never or rarely acceptable to interact with current patients via social media sites; however, 27.7% (n = 110/397) have visited a patient's social media site. Gathering information for patient care was the most commonly reported reason (76.8%; n = 43/56). Thirty-three percent (n = 130/394) have considered searching online or actually searched online for information about a patient. Curiosity was the most common reason (92.7%; n = 114/123); although, respondents also used PTG to obtain contact information and to prepare for patient sessions. Our study supports the need for development and dissemination of professional guidelines to serve as a valuable resource for practicing genetic counselors and genetic counseling training programs.
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) (pgenetic 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.
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.
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.
Meiser, Bettina; Tucker, Kathy; Friedlander, Michael; Barlow-Stewart, Kristine; Lobb, Elizabeth; Saunders, Christobel; Mitchell, Gillian
Many women newly diagnosed with breast cancer and with a strong family history of breast cancer are referred to a family cancer service for genetic counselling and for consideration of genetic testing for germline mutations in cancer predisposition genes following completion of their cancer treatment. However, there is growing evidence that mutation status may influence treatment recommendations, and that there may be benefits in having 'treatment-focused genetic counselling and testing' avai...
Tsai, Ginger J; Cameron, Carrie A; Czerwinski, Jennifer L; Mendez-Figueroa, Hector; Peterson, Susan K; Noblin, Sarah Jane
Recognizing the heterogeneity of the Asian population with regards to acculturation, education, health awareness, and cultural values is vital for tailoring culturally sensitive and appropriate care. Prior studies show that cultural values influence perceptions of genetics within Asian populations. The reputation of the family unit factors into decisions such as pregnancy termination and disclosure of family medical history, and the nondirective model of American genetic counseling may conflict with the historical Asian model of paternalistic health care. Previous studies also provide conflicting evidence regarding correlations between education, acculturation, age, and awareness and perceptions of genetic testing. The aims of this study were to describe attitudes towards prenatal genetics among Southeast and East Asian women living in the United States for varying amounts of time and to explore sociocultural factors influencing those attitudes. Twenty-three Asian women who were members of Asian cultural organizations in the United States were interviewed via telephone about their attitudes towards prenatal genetic counseling, prenatal genetic testing, and termination of pregnancy. Responses were transcribed and coded for common themes using a thematic analysis approach. Four major themes emerged. In general, participants: (1) had diverse expectations for genetic counselors; (2) tended to weigh risks and benefits with regards to genetic testing decisions; (3) had mixed views on termination for lethal and non-lethal genetic conditions; and (4) identified cultural factors which influenced testing and termination such as lack of available resources, societal shame and stigma, and family pressure. These findings may allow prenatal genetic counselors to gain a richer, more nuanced understanding of their Asian patients and to offer culturally tailored prenatal genetic counseling.
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
Heald, Brandie; Rybicki, Lisa; Clements, Diane; Marquard, Jessica; Mester, Jessica; Noss, Ryan; Nardini, Monica; Polk, Jill; Psensky, Brittany; Rigelsky, Christina; Schreiber, Allison; Shealy, Amy; Smith, Marissa; Eng, Charis
With genomics influencing clinical decisions, genetics professionals are exponentially called upon as part of multidisciplinary care. Increasing demand for genetic counselling, a limited workforce, necessitates practices improve efficiency. We hypothesised that distinct differences in clinical workload exist between various disciplines of genetic counselling, complicating practice standardisation and patient volume expectations. We thus sought to objectively define and assess workload among various specialties of genetic counselling. Twelve genetic counsellors (GCs), representing 9.3 clinical FTE, in general or specialty (cancer, cardiovascular or prenatal) services at an academic health system developed a data collection tool for assessing time and complexity. Over a 6-week period, the data were recorded for 583 patient visits (136 general and 447 specialty) and analysed comparing general versus specialty GCs. Variables were compared with hierarchical linear models for ordinal or continuous data and hierarchical logistic models for binary data. General GCs completed more pre- and post-visit activities ( P =0.011) and spent more time ( P =0.009) per case. General GCs reported greater case discussion with other providers ( P practice carry a higher pre- and post-visit workload compared with GCs in specialty practices. General GCs may require lower patient volumes than specialty GCs to allow time for additional pre- and post-visit activities. Non-clinical activities should be transferred to support staff.
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.
Armstrong, Joanne; Toscano, Michele; Kotchko, Nancy; Friedman, Sue; Schwartz, Marc D; Virgo, Katherine S; Lynch, Kristian; Andrews, James E; Aguado Loi, Claudia X; Bauer, Joseph E; Casares, Carolina; Bourquardez Clark, Elizabeth; Kondoff, Matthew R; Molina, Ashley D; Abdollahian, Mehrnaz; Walker, Gregg; Sutphen, Rebecca
BRCA genetic testing has substantial public health impact, yet little is known of the real-world experiences of the more than 100 000 Americans undergoing testing annually. To identify factors associated with use of BRCA testing, assess whether delivery of genetic counseling and testing services adheres to professional guidelines, and measure the impact on patient-reported outcomes. The American BRCA Outcomes and Utilization of Testing (ABOUT) Study analyzed data from a consecutive national series of 11 159 women whose clinicians ordered BRCA testing between December 2011 and December 2012. Aetna mailed recruitment information across the United States to commercial health plan members whose clinicians had ordered BRCA testing. A total of 3874 women (34.7%) completed questionnaires. Deidentified clinician-reported data from all respondents and a random sample of 2613 nonrespondents were also analyzed. The proportion of eligible participants who met testing criteria and respondents' report of receiving genetic counseling by a genetics clinician and its association with BRCA knowledge, understanding, and satisfaction were assessed. Among 3628 women respondents whose clinicians ordered comprehensive BRCA testing, most were white non-Hispanic (2502 [69.0%]), college educated (2953 [81.4%]), married (2751 [75.8%]), and had higher incomes (2011 [55.4%]). Approximately 16.4% (596) did not meet testing criteria. Mutations were identified in 161 (5.3%) of these women who received comprehensive testing. Only 1334 (36.8%) reported receiving genetic counseling from a genetics clinician prior to testing; the lowest rates (130 [12.3%]) were among patients of obstetrician/gynecologists. The most commonly reported reason for not receiving this clinical service was lack of clinician recommendation. Those who received it demonstrated greater knowledge about BRCA (mean score difference adjusted for demographics and clinician specialty, β = 0.99 [95% CI, 0.83-1.14]; P BRCA genetic
Farmer Jennifer M
Full Text Available Abstract Background Human development is a process of change, adaptation and growth. Throughout this process, transitional events mark important points in time when one's life course is significantly altered. This study captures transitional life events brought about or altered by Friedreich ataxia, a progressive chronic illness leading to disability, and the impact of these events on an affected individual's life course. Methods Forty-two adults with Friedreich ataxia (18-65y were interviewed regarding their perceptions of transitional life events. Data from the interviews were coded and analyzed thematically using an iterative process. Results Identified transitions were either a direct outcome of Friedreich ataxia, or a developmental event altered by having the condition. Specifically, an awareness of symptoms, fear of falling and changes in mobility status were the most salient themes from the experience of living with Friedreich ataxia. Developmental events primarily influenced by the condition were one's relationships and life's work. Conclusions Friedreich ataxia increased the complexity and magnitude of transitional events for study participants. Transitional events commonly represented significant loss and presented challenges to self-esteem and identity. Findings from this study help alert professionals of potentially challenging times in patients' lives, which are influenced by chronic illness or disability. Implications for developmental counseling approaches are suggested for genetic counseling. Background Human development can be described in terms of key transitional events, or significant times of change. Transitional events initiate shifts in the meaning or direction of life and require the individual to develop skills or utilize coping strategies to adapt to a novel situation 12. A successful transition has been defined as the development of a sense of mastery over the changed event 3. Transitions can be influenced by a variety
Bjorvatn, Cathrine; Eide, Geir Egil; Hanestad, Berit R; Havik, Odd E
The main aims of the study were to investigate changes in anxiety and depression over time in subjects attending genetic counseling (GC) for hereditary cancer, and secondly, to identify psychological, social, and medical variables associated with the course and outcome of anxiety and depression. Of 275 eligible individuals, 221 consented to participate, 214 returned the baseline questionnaire, and were included in a prospective multi-center study. Questionnaires were mailed to the subjects before and after the GC. The mean values for anxiety and depression were quite low at all assessments. Mixed linear analyzes revealed that both anxiety and depression declined over time. Higher age, GC-related self-efficacy, and social support were associated with lower levels of anxiety. More social support, satisfaction with GC, self-rated physical function, and GC-related self-efficacy were associated with lower levels of depression. The effects of social support on both anxiety and depression had a significant interaction with time. The results support the buffer theory, which proposes that social support acts as a buffer, protecting people from the potentially pathogenic influence of stressful life events, such as GC. Subjects with less social support and less GC-related self-efficacy seem to be more vulnerable to anxiety and depression and should be offered extra attention by counselors.
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.
Jensen, Lars Henrik; Dysager, Lars; Lindebjerg, Jan
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...... not be ruled out in 12 patients. A follow-up at 8-10 years revealed four definite cases of Lynch syndrome and three highly suspicious. An easy and clinically applicable step-wise approach with immunohistochemistry (100%), BRAF sequencing (10%) and methylation analysis (5%) identified several patients...... with hereditary cancer. It is feasible to perform a molecular screening to select patients for genetic counselling....
Marchina, Eleonora; Fontana, Maria Grazia; Speziani, Michela; Salvi, Alessandro; Ricca, Giuseppe; Di Lorenzo, Diego; Gervasi, Maria; Caimi, Luigi; Barlati, Sergio
Hereditary breast cancer accounts for 5-10% of all cases of breast cancer and 10-15% of ovarian cancer and is characterised by dominant inheritance, early onset, the severity of the disease and bilaterality. About 30% of cases with hereditary breast and ovarian cancer have mutations in the BRCA1 and BRCA2 genes. Women with a mutation in the BRCA1 gene have a 80-90% lifetime risk of developing breast cancer, and 40-65% chance of developing ovarian cancer. Most studies carried out throughout the world indicate that the prevalence of BRCA1 and BRCA2 mutation is lower than originally suggested by early studies on large families with several affected members. Studies performed in Italy have reported different prevalence of BRCA1 and BRCA2 mutations, probably due to different selection criteria and to the variability of the techniques used. In this study, we performed a screening of BRCA1 and BRCA2 in families from northern Italy with familial recurrence of breast cancer or ovarian cancer in which the individual risk of patients of being carriers of BRCA1 and BRCA2 mutation was evaluated using BRCAPRO (CAGene) software. We enrolled 27 patients of 101 unrelated families selected when they fulfilled the inclusion criteria of the American Society of Clinical Oncology (ASCO). Specific risk evaluation, genetic test administration if needed, and discussion of the results were offered during multi-disciplinary genetic, surgical and psychological counselling. Seven probands (35%) found BRCA1/2 sequence variation carriers; no BRCA1 and BRCA2 mutations were detected in the remaining 13 probands. Two (15%) patients had BRCA1 mutations and 5 (25%) patients had BRCA2 mutations. In the latter case, BRCA2 delA 9158fs+29stop mutation in exon 22, never previously described and a new sequence variation (T703N) in exon 11 were identified.
Leach, Emma; Morris, Emily; White, Hannah J; Inglis, Angela; Lehman, Anna; Austin, Jehannine
Psychiatric genetic counseling (PGC) is an emerging specialty discipline within the genetic counseling profession. A specialist PGC service was founded in 2012 in Vancouver, Canada, and though patient benefits have been demonstrated, many physicians do not regularly refer patients to the service despite awareness of its availability. We conducted a qualitative study involving semi-structured telephone interviews with Vancouver-based physicians who were aware of the PGC service to explore this phenomenon. Interviews were audio-recorded, transcribed verbatim, coded, and analysed for emergent themes. Consistent with a grounded theory approach, constant comparison was employed throughout data collection and analysis. Analyses of interviews conducted with 12 physicians revealed that referral practices were informed by perceptions about the purpose of PGC and interpretation of patient cues. Physicians perceived PGC as an information-focused intervention, and considered referral when patients explicitly expressed desire for information about recurrence risk or etiology that they felt unable to adequately address themselves. Even when physicians identified psychotherapeutic benefits of PGC, patient needs of this nature were not perceived as cues prompting referral to PGC. These data suggest that further work is necessary to position PGC in physicians' minds as a service that could potentially benefit most individuals with psychiatric disorders and their families, and that it encompasses more than information provision. It is important to increase physicians' awareness of the complementary role that genetic counselors can play to that of the physician in providing psychotherapeutically oriented counselling about illness etiology.
Godino, Lea; Pompilii, Eva; D'Anna, Federica; Morselli-Labate, Antonio M; Nardi, Elena; Seri, Marco; Rizzo, Nicola; Pilu, Gianluigi; Turchetti, Daniela
Despite the increasing availability and effectiveness of non-invasive screening for foetal aneuploidies, most women of advanced maternal age (AMA) still opt for invasive tests. A retrospective cross-sectional survey was performed on women of AMA undergoing prenatal invasive procedures, in order to explore their motivations and the outcome of preliminary genetic counselling according to the approach (individual or group) adopted. Of 687 eligible women, 221 (32.2%) participated: 117 had received individual counselling, while 104 had attended group sessions. The two groups did not differ by socio-demographic features. The commonest reported reason to undergo invasive tests was AMA itself (67.4%), while only 10.4% of women mentioned the opportunity of making informed choices. The majority perceived as clear and helpful the information received at counselling, and only 12.7% had doubts left that, however, often concerned non-pertinent issues. The impact of counselling on risk perception and decisions was limited: a minority stated their perceived risk of foetal abnormalities had either increased (6.8%) or reduced (3.6%), and only one eventually declined invasive test. The 52.6% of women expressed a preference toward individual counselling, which also had a stronger impact on perceived risk reduction (P=0.003). Nevertheless, group counselling had a more favourable impact on both clarity of understanding and helpfulness (P=0.0497 and P=0.035, respectively). The idea that AMA represents an absolute indication for invasive tests appears deeply rooted; promotion of non-invasive techniques may require extensive educational efforts targeted to both the general population and health professionals.
Eijzenga, Willem; Aaronson, Neil K; Kluijt, Irma; Sidharta, Grace N; Hahn, Daniela Ee; Ausems, Margreet Gem; Bleiker, Eveline Ma
Individuals with a personal or family history of cancer, can opt for genetic counseling and DNA-testing. Approximately 25% of these individuals experience clinically relevant levels of psychosocial distress, depression and/or anxiety after counseling. These problems are frequently left undetected by genetic counselors. The aim of this study is to evaluate the efficacy of a cancer genetics-specific screening questionnaire for psychosocial problems, the 'Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire' together with the Distress Thermometer, in: (1) facilitating personalized counselor-counselee communication; (2) increasing counselors' awareness of their counselees' psychosocial problems; and (3) facilitating the management of psychosocial problems during and after genetic counseling. This multicenter, randomized controlled trial will include 264 individuals undergoing cancer genetic counseling in two family cancer clinics in the Netherlands. Participants will be randomized to either: (1) an intervention group that completes the PAHC questionnaire, the results of which are made available to the genetic counselor prior to the counseling session; or (2) a control group that completes the PAHC questionnaire, but without feedback being given to the genetic counselor. The genetic counseling sessions will be audiotaped for content analysis. Additionally, study participants will be asked to complete questionnaires at baseline, three weeks after the initial counseling session, and four months after a telephone follow-up counseling session. The genetic counselors will be asked to complete questionnaires at the start of and at completion of the study, as well as a checklist directly after each counseling session. The questionnaires/checklists of the study include items on communication during genetic counseling, counselor awareness of their clients' psychosocial problems, the (perceived) need for professional psychosocial support, cancer worries, general
Nishigaki, M; Tokunaga-Nakawatase, Y; Nishida, J; Kazuma, K
The aim of this study is to investigate the effect of diabetes genetic counseling on attitudes toward diabetes and its heredity in relatives of type 2 diabetes patients. This study was an unmasked, randomized controlled trial at a medical check-up center in Japan. Subjects in this study are healthy adults between 30 and 60 years of age who have a family history of type 2 diabetes in their first degree relatives. Participants in the intervention group received a brief genetic counseling session for approximately 10 min. Genetic counseling was structured based on the Health Belief Model. Both intervention and control groups received a booklet for general diabetes prevention. Risk perception and recognition of diabetes, and attitude towards its prevention were measured at baseline, 1 week and 1 year after genetic counseling. Participants who received genetic counseling showed significantly higher recognition about their sense of control over diabetes onset than control group both at 1 week and 1 year after the session. On the other hand, anxiety about diabetes did not change significantly. The findings show that genetic counseling for diabetes at a medical check center helped adults with diabetes family history understand they are able to exert control over the onset of their disease through lifestyle modification.
Maione, Luigi; Dwyer, Andrew A; Francou, Bruno; Guiochon-Mantel, Anne; Binart, Nadine; Bouligand, Jérôme; Young, Jacques
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients' offspring. Importantly, patients and their families should be informed of this risk and given genetic counseling. CHH and KS are phenotypically and genetically heterogeneous diseases in which the risk of transmission largely depends on the gene(s) responsible(s). Inheritance may be classically Mendelian yet more complex; oligogenic modes of transmission have also been described. The prevalence of oligogenicity has risen dramatically since the advent of massively parallel next-generation sequencing (NGS) in which tens, hundreds or thousands of genes are sequenced at the same time. NGS is medically and economically more efficient and more rapid than traditional Sanger sequencing and is increasingly being used in medical practice. Thus, it seems plausible that oligogenic forms of CHH/KS will be increasingly identified making genetic counseling even more complex. In this context, the main challenge will be to differentiate true oligogenism from situations when several rare variants that do not have a clear phenotypic effect are identified by chance. This review aims to summarize the genetics of CHH/KS and to discuss the challenges of oligogenic transmission and also its role in incomplete penetrance and variable expressivity in a perspective of genetic counseling. © 2018 European Society of Endocrinology.
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.
Cohen, Stephanie A; Marvin, Monica L; Riley, Bronson D; Vig, Hetal S; Rousseau, Julie A; Gustafson, Shanna L
Increasing demand for genetic services has resulted in the need to evaluate current service delivery models (SDMs) and consider approaches that improve access to and efficiency of genetic counseling (GC). This study aimed to describe SDMs currently used by the GC community. The NSGC membership was surveyed regarding the use of four SDMs: in-person GC, telephone GC, group GC, and telegenetics GC. Variables related to access and components of use were also surveyed, including: appointment availability, time-per-patient, number of patients seen, billing, and geographic accessiblity. Seven hundred one usable responses were received. Of these, 54.7 % reported using an in-person SDM exclusively. The remainder (45.3 %) reported using multiple SDMs. Telephone, group and telegenetics GC were used often or always by 8.0 %, 3.2 % and 2.2 % of respondents, respectively. Those using an in-person SDM reported the ability to see the highest number of patients per week (p 4 h away. This study shows that genetic counselors are incorporating SDMs other than traditional in-person genetic counseling, and are utilizing more than one model. These adaptations show a trend toward shorter wait time and shorter length of appointments. Further study is indicated to analyze benefits and limitations of each individual model and factors influencing the choice to adopt particular models into practice.
Ackerman, Marra G; Shapiro, Peter A; Coe, Austin; Trivedi, Meghna S; Crew, Katherine D
We evaluated whether mental illness is a barrier to genetic counseling for hereditary breast and ovarian cancer (HBOC) in multiethnic breast cancer patients. We conducted a retrospective analysis of 308 women with newly diagnosed breast cancer and eligible for HBOC genetic testing seen in the breast clinic of an academic, urban medical center from 2007 to 2015. Uptake of genetic services and history of mental health disorder (MHD), defined as a psychiatric diagnosis or treatment with an antidepressant, mood stabilizer, anxiolytic, or antipsychotic medication, were ascertained by medical chart review. The mean age at breast cancer diagnosis was 56 years, with 44% non-Hispanic whites, 37% Hispanics, and 15% non-Hispanic blacks. Ninety-nine (32%) women met study criteria for MHD, 73% had a genetics referral, 57% had genetic counseling, and 54% completed BRCA testing. Uptake of genetic counseling services did not differ by race/ethnicity or presence of MHD. In multivariable analysis, younger age at diagnosis, Ashkenazi Jewish heritage, and family history of breast cancer were associated with HBOC genetic counseling. A relatively high proportion of breast cancer patients eligible for HBOC genetic testing were referred to a genetic counselor and referral status did not vary by MHD or race/ethnicity. © 2017 Wiley Periodicals, Inc.
Cortesi, L; Razzaboni, E; Toss, A; De Matteis, E; Marchi, I; Medici, V; Tazzioli, G; Andreotti, A; De Santis, G; Pignatti, M; Federico, M
Risk-reducing mastectomy (RRM) decreases breast cancer (BC) risk in BRCA1/2 mutation carriers by up to 95%, but the Italian attitude towards this procedure is reluctant. This is an observational study with retrospective design, using quantitative and qualitative research methods, aimed at evaluating the attitude towards RRM by rapid genetic counselling and testing (RGCT), at the time of BC diagnosis, compared with traditional genetic counselling and testing (TGCT), after previous BC surgery. Secondary aims were to investigate patient satisfaction after RRM and the rate of occult tumour in healthy breasts. A total of 1168 patients were evaluated: 1058 received TGCT, whereas 110 underwent RGCT. In TGCT, among 1058 patients, 209 (19.7%) mutation carriers were identified, with the rate of RRM being 4.7% (10 of 209). Conversely in RGCT, among 110 patients, 36 resulted positive, of which, 15 (41.7%) underwent bilateral mastectomy at the BC surgery time, showing an overall good satisfaction, measured by interpretative phenomenological analysis 12 months after the intervention. Our study shows that RGCT in patients with a hereditary profile is associated with a high rate of RRM at the BC surgery time, this being the pathway offered within a multidisciplinary organization.
Oberguggenberger, Anne; Sztankay, Monika; Morscher, Raphael Johannes; Sperner-Unterweger, Barbara; Weber, Ingrid; Hubalek, Michael; Kemmler, Georg; Zschocke, Johannes; Martini, Caroline; Egle, Daniel; Dünser, Martina; Gamper, Eva; Meraner, Verena
We investigated the psychosocial consequences of genetic counseling and testing (GCT) for hereditary breast and ovarian cancer (HBOC) at follow-up in a "real-life" sample of counselees at an Austrian tertiary care center. The study cohort included counselees who had undergone genetic counseling for HBOC and completed a follow-up self-report questionnaire battery on psychosocial outcomes (quality of life, psychological distress, satisfaction with counseling and decisions). For comparison of distress, we recruited a reference sample of breast cancer survivors (BCS; n=665) who had not requested GCT in the same setting. Overall, counselees did not exhibit increased levels of anxiety and depression when compared to BCS. No specific follow-up deleterious psychosocial consequences were detected among the former group. Of the 137 counselees, 22.6% and 9.8% experienced clinically relevant levels of anxiety and depression, respectively, at an average follow-up time of 1.8years. However, both anxiety and depression significantly decreased with time and were alike between counselees with and without cancer diagnosis. Follow-up cancer worry seems to be significantly higher among counselees who had not undergone genetic testing or were undecided about it than among counselees who had been tested. Our results strongly support GCT as part of routine care for patients with HBOC. The risk factors of increased distress in specific subgroups of counselees, such as recent cancer diagnosis or uncertainty about testing, warrant further exploration and specific attention in clinical routines. Particularly, the psychological needs of undecided counselees warrant ongoing attention and potential follow-ups. Copyright © 2016 Elsevier Inc. All rights reserved.
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
Martin, L.; Dulmen, S. van; Spelten, E.; Hutton, E.
OBJECTIVES: Counseling about prenatal testing for congenital abnormalities has become an increasing part of obstetric care in the Netherlands (Wiegers and Hingstman, 2008). During the past decade many changes have taken place in medical-technical and social-cultural areas as well as in health care
Kentenich, H; Tandler-Schneider, A
The role of the physician in the context of in vitro fertilization and preimplantation genetic diagnosis has certain distinct characteristics. Involuntary childlessness by definition of the WHO is a disease with good treatment options. As it is not considered a medical emergency, the focus lies more on intensive information giving, education, and counseling. Because the diagnosis and treatment can be a medical and psychological strain for the couple, counseling should address both medical and psychological aspects. The physician needs to have detailed medical knowledge as well as good communication skills to be able to meet the specific needs of the couple. Moreover, the physician should point out the realistic success rates of treatment and should refer to alternatives, such as remaining childless, adoption, and sperm or egg donation. The concurrent inclusion of biological, psychological, social, and ethical aspects in terms of psychosomatic basic care (Psychosomatische Grundversorgung) seems to be useful. There is potential for conflicts, for example, due to the economic interests of the physician. On the other hand, the treatment can be a financial burden for the couple. Of importance are the physician's and the patient's moral concepts, especially concerning some aspects of therapy (sperm and egg donation, surrogacy). The expected welfare of the intended child should also be respected (e.g., higher risk of preterm birth in multiple pregnancies). Further possible conflicts in reproductive medicine arise because of the crossing of moral boundaries (oocyte donation for postmenopausal women, surrogacy, cloning of human beings). The framework of counseling is based on the guidelines of the German Medical Association (Bundesärztekammer) for assisted reproduction (2006). Preimplantation genetic diagnosis has special requirements from a medical and psychosocial point of view.
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.
El Chehadeh, S; Touraine, R; Prieur, F; Reardon, W; Bienvenu, T; Chantot-Bastaraud, S; Doco-Fenzy, M; Landais, E; Philippe, C; Marle, N; Callier, P; Mosca-Boidron, A-L; Mugneret, F; Le Meur, N; Goldenberg, A; Guerrot, A-M; Chambon, P; Satre, V; Coutton, C; Jouk, P-S; Devillard, F; Dieterich, K; Afenjar, A; Burglen, L; Moutard, M-L; Addor, M-C; Lebon, S; Martinet, D; Alessandri, J-L; Doray, B; Miguet, M; Devys, D; Saugier-Veber, P; Drunat, S; Aral, B; Kremer, V; Rondeau, S; Tabet, A-C; Thevenon, J; Thauvin-Robinet, C; Perreton, N; Des Portes, V; Faivre, L
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling. One patient was adopted and among the other 19 patients, seven (37%) had inherited their duplication from their mother, including three mildly (XCI: 70/30, 63/37, 100/0 in blood and random in saliva), one moderately (XCI: random) and three severely (XCI: uninformative and 88/12) affected patients. After combining our data with data from the literature, we could not show a correlation between XCI in the blood or duplication size and the severity of the phenotype, or explain the presence of a phenotype in these females. These findings confirm that an abnormal phenotype, even severe, can be a rare event in females born to asymptomatic carrier mothers, making genetic counselling difficult in couples at risk in terms of prognosis, in particular in prenatal cases. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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.
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
Chen, Kaitian; Zong, Ling; Zhan, Yuan; Wu, Xuan; Liu, Min; Jiang, Hongyan
Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling. Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with Waardenburg syndrome type II. Targeted genetic counseling was provided to this family. We identified a rare heterozygous dominant mutation c.621C>A (p.Y207X) in SOX10 gene in this family. The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics prediction suggested this variant to be disease-causing, probably due to nonsense-mediated mRNA decay. Useful genetic counseling was given to the family for prenatal guidance. Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Paneque, Milena; Sequeiros, Jorge; Skirton, Heather
Presymptomatic testing (PST) is available for a range of late-onset disorders. Health practitioners generally follow guidelines regarding appropriate number of counseling sessions, involvement of multidisciplinary teams, topics for pretest discussion, and follow-up sessions; however, more understanding is needed about what helps consultands effectively and the impact of amount and quality of genetic counseling on the psychosocial sequelae of PST for late-onset disorders. We conducted a thematic analysis of three review articles on quality of the genetic counseling process, aiming at (1) exploring current evidence; (2) identifying quality assessment indicators; and (3) making recommendations for genetic counseling practice in late-onset disorders. We undertook a systematic search of 6 relevant databases: 38 articles were identified and 3 fitted our inclusion criteria; after quality appraisal, all were included in the review. The number of sessions, time spent, consultation environment, follow-up, and multidisciplinarity were identified as variables for quality assessment. Research on counseling in the context of genetic testing in familial cancer tends to be related to outcomes and indicators for quality assessment, while research concerning other late-onset diseases is mainly focused on the psychological impact of the test results. The quality and content of the overall process in noncancer late-onset diseases is insufficiently articulated. Despite the fact that PST for Huntington disease and other degenerative conditions has been offered for more than 20 years, good methodological approaches to assess quality of genetic counseling in that context remain elusive. This restricts improvement of the protocols for genetic services and, in general, healthcare for the at-risk population.
Johnson, K A; Rosenblum-Vos, L; Petersen, G M; Brensinger, J D; Giardiello, F M; Griffin, C A
The APC I1307K gene mutation is associated with increased colorectal cancer (CRC) risk in Ashkenazi Jews. Factors predicting acceptance of this and other hereditary colon cancer mutation tests in a clinical setting are unknown. We analyzed sex, age, family history, personal history, and gene test results of patients at increased risk for cancer who sought cancer risk counseling at the Johns Hopkins (JH) CRC Risk Assessment Clinic (n = 91), and those submitting samples to the JH Pathology Molecular Diagnostic Laboratory (n = 256) for APC I1307K testing. Of patients seen at the JH Clinic, 77/91 (84.6%) elected APC I1307K testing after pretest counseling (acceptors). There were no statistically significant differences in demographic characteristics between acceptors and decliners. In comparison, only 8 of 57 (14.0%) patients offered HNPCC testing proceeded with testing (P counseling and testing. The reported association between the APC I1307K mutation and colon cancer risk was supported by a correlation in these data between personal or family history of CRC or polyps and a gene mutation. Copyright 2000 Wiley-Liss, Inc.
Kaut, Kevin P.
The field of genetics and the process of testing for genetic disorders have advanced considerably over the past half century, ushering in significant improvements in certain areas of medical diagnosis and disease prediction. However, genetic discoveries are accompanied by many social, emotional, and psychological implications, and counseling…
Pieterse, Arwen; van Dulmen, Sandra; Ausems, Margreet; Schoemaker, Angela; Beemer, Frits; Bensing, Jozien
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 and psychometric properties of the QUOTE-gene(ca), a counselee-centered instrument intended to measure needs and preferences in genetic counseling for hereditary cancer. Formulation of the items involved input from counselees and the instrument was derived from a conceptual framework for measuring patient satisfaction. Two-hundred new counselees completed a questionnaire containing the instrument and measures of coping style (TMSI), generalized anxiety (STAI) and cancer-related stress reactions (IES), prior to their first consultation. Results showed that the instrument captures relevant issues of concern with high internal consistency, and was associated, as expected, with validated measures of coping style and distress. Responses showed that major concerns prior to counseling relate to: receiving information about risk and preventive strategies; the procedure of counseling; and preferences on how the interaction with the counselor proceeds. Receiving emotional support and discussing emotional aspects were considered relatively less important. Increasing insight into individual needs may help counselors in better addressing these concerns, potentially increasing the likelihood of successful counseling. Copyright (c) 2004 John Wiley & Sons, Ltd.
Redlinger-Grosse, Krista; Veach, Patricia McCarthy; MacFarlane, Ian M
Genetic counselor self-disclosure is a complex behavior that lacks extensive characterization. In particular, data are limited about genetic counselors' responses when patients ask them to self-disclose. Accordingly, this study investigated genetic counseling students' (n = 114) and practicing genetic counselors' (n = 123) responses to two hypothetical scenarios in which a female prenatal patient requests self-disclosure. Scenarios were identical except for a final patient question: "Have you ever had an amniocentesis?" or "What would you do if you were me?" Imagining themselves as the counselor, participants wrote a response for each scenario and then explained their response. Differences in disclosure frequency for students vs. counselors and disclosure question were assessed, and themes in participant responses and explanations were extracted via content and thematic analysis methods. Chi-square analyses indicated no significant differences in frequency of student versus counselor disclosure. Self-disclosure was significantly higher for, "Have you ever had an amniocentesis?" (78.5 %) than for, "What would you do if you were me?" (53.2 %) (p self-disclosures included personal, professional, and mixed disclosures. Prevalent explanations for disclosure and non-disclosure responses included: remain patient focused and support/empower the patient. Additional findings, practice and training implications, and research recommendations are presented.
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.
Zhang, M; Fan, H-T; Zheng, H-S; Zhang, Q-S; Feng, S-Q; Li, R-W
Klinefelter syndrome (KS) is the most common genetic cause of male infertility. Widespread development in assisted reproductive technology has provided non-mosaic KS patients with the opportunity of having biological children. Testosterone replacement therapy and micro-dissection testicular sperm extraction are effective sperm retrieval techniques for KS patients. Despite the success of sperm retrieval and intracytoplasmic sperm injection (ICSI), some areas of early aggressive hormonal spermatogenesis and appropriate management of KS remain controversial. Androgenotherapy, a common treatment for KS, carries a risk of decreasing focal spermatogenesis by lowering the gonadotropin content. Inadequately treated hypogonadism increases psychosocial morbidity in KS patients. Preventive care must be provided from the time of diagnosis, preferentially through a multidisciplinary approach. This indicates the need for improved genetic counseling of KS patients. The aim of this study was to report the prevalence of non-mosaic KS in a Chinese infertile male population. The rate of early diagnosis was lower in KS patients; most of these were diagnosed after rising concerns of reproductive capacity. The mean age of patients with sperm or germ cells was significantly lower, while the semen volume of these patients was significantly higher. However, the semen volume was negatively correlated with the age and ratio of luteinizing hormone/testosterone content in KS patients. Therefore, genetic counseling of KS patients should focus on early diagnosis and timely treatment, in addition to improving the quality of life of all KS patients. The use of testosterone replacement therapy and/ or micro-dissection testicular sperm extraction should be preferentially considered for fertility preservation.
Training to Provide Psychiatric Genetic Counseling: How Does It Impact Recent Graduates' and Current Students' Readiness to Provide Genetic Counseling for Individuals with Psychiatric Illness and Attitudes towards this Population?
Low, Ashley; Dixon, Shannan; Higgs, Amanda; Joines, Jessica; Hippman, Catriona
Mental illness is extremely common and genetic counselors frequently see patients with mental illness. Genetic counselors report discomfort in providing psychiatric genetic counseling (GC), suggesting the need to look critically at training for psychiatric GC. This study aimed to investigate psychiatric GC training and its impact on perceived preparedness to provide psychiatric GC (preparedness). Current students and recent graduates were invited to complete an anonymous survey evaluating psychiatric GC training and outcomes. Bivariate correlations (p<.10) identified variables for inclusion in a logistic regression model to predict preparedness. Data were checked for assumptions underlying logistic regression. The logistic regression model for the 286 respondents [χ 2 (8)=84.87, p<.001] explained between 37.1% (Cox & Snell R 2 =.371) and 49.7% (Nagelkerke R 2 =.497) of the variance in preparedness scores. More frequent psychiatric GC instruction (OR=5.13), more active methods for practicing risk assessment (OR=4.43), and education on providing resources for mental illness (OR=4.99) made uniquely significant contributions to the model (p<.001). Responses to open-ended questions revealed interest in further psychiatric GC training, particularly enabling "hands on" experience. This exploratory study suggests that enriching GC training through more frequent psychiatric GC instruction and more active opportunities to practice psychiatric GC skills will support students in feeling more prepared to provide psychiatric GC after graduation.
Hasenbring, Monika I; Kreddig, Nina; Deges, Gabriele; Epplen, Joerg T; Kunstmann, Erdmute; Stemmler, Susanne; Schulmann, Karsten; Willert, Joerg; Schmiegel, Wolf
We prospectively examined the impact of an initial interdisciplinary genetic counseling (human geneticist, oncologist, and psycho-oncologist) on feelings of anxiety with a special focus on subgroups related to personal cancer history, gender, age, and education. At baseline, cancer-affected men revealed a significantly higher level of anxiety than unaffected men (pDepression Scale-A cases can be predicted by general distress (Brief Symptom Inventory) as well as by hereditary nonpolyposis colorectal cancer-related cognitions of intrusion and avoidance (impact of event scale) with a correct classification of 86%. Although initial hereditary nonpolyposis colorectal cancer counseling leads to an overall reduction of anxiety, differential effects of cancer history, gender, and age focus on subgroups of cancer-affected men, who may display unexpectedly high anxiety scores at baseline. Especially younger men do not seem to reduce this high anxiety level. Baseline anxiety was mainly determined by maladaptive situation-specific cognitions. Therefore, consulters should be more aware of anxiety-related cognitions in cancer-affected younger men.
Alcalay, RN; Caccappolo, E; Mejia-Santana, H; Tang, M-X; Rosado, L; Ross, B; Verbitsky, M; Kisselev, S; Louis, ED; Comella, C; Colcher, A; Jennings, D; Nance, M; Bressman, S; Scott, WK; Tanner, C; Mickel, S; Andrews, H; Waters, C; Fahn, S; Cote, L; Frucht, S; Ford, B; Rezak, M; Novak, K; Friedman, JH; Pfeiffer, R; Marsh, L; Hiner, B; Siderowf, A; Ottman, R; Marder, K; Clark, LN
Objective To assess the frequency and clinical characteristics of carriers of previously identified mutations in six genes associated with early onset Parkinson disease (EOPD) and provide empirical data that can be used to inform genetic counseling. Methods Mutations in SNCA, PRKN, PINK1, DJ1, LRRK2 and GBA were assessed in 953 individuals with EOPD ascertained based on age at onset (AAO) ≤50 years. Participants included 77 Hispanics and 139 of Jewish ancestry. A validated family history interview and the Unified Parkinson’s Disease Rating Scale (UPDRS) were administered. Demographic and phenotypic characteristics were compared among groups defined by mutation status. Results One hundred and fifty eight (16.6%) had mutations including 64 (6.7%) PRKN, 35 (3.6%) LRRK2 G2019S, 64 (6.7%) GBA and one (0.2%) DJ1. Mutation carriers were more frequent among cases with AAO ≤30 than among cases with AAO between 31 and 50 (40.6% vs. 14.6% pJews compared to non-Jews (32.4% vs. 13.7% pgenetic counseling. PMID:20837857
Grazi, Richard V; Wolowelsky, Joel B
There is a spectrum of attitudes within the Orthodox Jewish community towards genetic testing and PGD. Increased understanding of the belief systems of the Orthodox Jewish population will enhance the genetic counselors' ability to better serve this unique group of patients. By improving cultural competence, genetic counselors can help patients choose the testing options that they deem appropriate, while simultaneously respecting the patient's belief system.
The influence of cancer-related distress and sense of coherence on anxiety and depression in patients with hereditary cancer: a study of patients' sense of coherence 6 months after genetic counseling.
Siglen, Elen; Bjorvatn, Cathrine; Engebretsen, Lars Fredrik; Berglund, Gunilla; Natvig, Gerd Karin
This study examines the association between Sense of Coherence and anxiety and depression amongst patients at risk of hereditary cancer receiving genetic counseling. When writing this article, 144 patients referred for genetic counseling due to a suspicion of hereditary cancer in the family were recruited for this multicentered longitudinal study on the psychosocial aspects of genetic counseling in Norway. A total of 96 (66%) patients responded to the follow-up survey distributed 6 months after genetic counseling. This survey included the Sense of Coherence-29 Scale, Impact of Event Scale, and Hospital Anxiety and Depression Scale. Multiple regression analyses were applied. Our results show association between cancer-related distress and symptoms of anxiety and depression. Sense of Coherence is significantly associated with both anxiety and depression. The hypothesis of Sense of Coherence buffering cancer-related distress and the possible impact of these findings for genetic counseling are discussed.
O'Doherty, Kieran C
The question of what probability actually is has long been debated in philosophy and statistics. Although the concept of probability is fundamental to many applications in the health sciences, these debates are generally not well known to health professionals. This paper begins with an outline of some of the different interpretations of probability. Examples are provided of how each interpretation manifests in clinical practice. The discipline of genetic counselling (familial cancer) is used to ground the discussion. In the second part of the paper, some of the implications that different interpretations of probability may have in practice are examined. The main purpose of the paper is to draw attention to the fact that there is much contention as to the nature of the concept of probability. In practice, this creates the potential for ambiguity and confusion. This paper constitutes a call for deeper engagement with the ways in which probability and risk are understood in health research and practice.
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.
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
Mollema, E. D.; Smets, E. M. A.; Richard, M. E.; Schiphorst, A. M.; Leschot, N. J.
Given the increased demand on genetic services, it is important to identify clients who may require relatively more extensive psychosocial support. This paper describes which client characteristics, as assessed in the first psycho-social counselling session, were associated with requiring relatively
Dagan, Efrat; Gershoni-Baruch, Ruth; Kurolap, Alina; Goldberg, Yael; Fried, Georgeta
This article presents the complexity of prenatal genetic diagnosis and preimplantation genetic diagnosis for hereditary breast-ovarian cancer syndrome. These issues are discussed using a case report to highlight the genetic counseling process, together with decision-making considerations, in light of the clinical, psychological, and ethical perspectives, of both the mutation carriers and health professionals; and the health policy regarding these procedures in Israel compared to several European countries.
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.
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,
...% cumulative risk of developing ovarian cancer (Struewing et al., 1997; Whittemore et al., 1997; Schrag et al., 1997). There are several benefits associated with genetic testing for breast cancer susceptibility...
Kuang, Ze-Min; Wang, Ying; Wang, Jia-Jie; Liu, Jing-Hua; Zeng, Rong; Zhou, Qi; Yu, Zhen-Qiu; Jiang, Long
Liddle's syndrome, an autosomal dominant form of monogenic hypertension, is characterized by salt-sensitive hypertension with early penetrance, hypokalemia, metabolic alkalosis, suppression of plasma rennin activity and aldosterone secretion, and a clear-cut response to epithelial sodium channel blockers but not spironolactone therapy. Here, we describe the case of a 16-year-old boy patient with resistant hypertension (maintain 170-180/100-110 mm Hg after administration four kinds of antiypertensive drugs) and severe hypokalemia. After a series of checks, we exclude primary aldosteronism and renal artery stenosis and other diseases. Finally, the Liddle syndrome was diagnosed because of the DNA sequencing found that the proband's mother and himself had mutations P616L (c.1847 C>T) in the SCNN1B gene. Liddle syndrome should be considered as a cause of hypertension in children or adolescents particularly with suppressed renin activity. Early diagnosis and appropriately tailored treatment avoid complications of long-term unrecognized or inappropriately managed hypertension. Genetic testing has made it possible to make accurate diagnoses and develop tailored therapies for mutation carriers. The role of genetic testing and genetic counseling in establishing the early diagnosis of Liddle's syndrome is important. Copyright © 2017 American Society of Hypertension. Published by Elsevier Inc. All rights reserved.
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.
Godino, Lea; Razzaboni, Elisabetta; Bianconi, Margherita; Turchetti, Daniela
As the impact of breast cancer (BC) risk assessment in asymptomatic women with a family history of BC had never been explored in Italy, we performed a study on a retrospective series of women who had undergone BC risk assessment. To this aim, a semi-structured telephone interview was administered to 82 women. Most participants considered the information received as clear (96.2 %) and helpful (76.8 %). Thirty-eight (46.3 %) stated that their perceived risk of BC had changed after the counseling: for 40.2 % it had decreased, for 6.1 % increased; however, women highly overestimating their risk at the baseline (≥ 4-fold) failed to show improvements in risk perception accuracy. Sixty-six women (80.5 %) stated they had followed the recommended surveillance, while 19.5 % had not, mainly due to difficulties in arranging examinations. Most women (89.0 %) had shared the information with their relatives, with 57.3 % reporting other family members had undertaken the recommended surveillance. BC risk assessment was associated with high rates of satisfaction and had a favorable impact on risk perception in a subgroup of women. The impact on surveillance adhesion extended to relatives. Organized programs for identification and surveillance may help identify a larger fraction of at-risk women and overcome the reported difficulties in arranging surveillance.
Khaled R. Gaber
Feb 21, 2015 ... Abstract Background: Mucopolysaccharidoses (MPS) are autosomal recessive disorders charac- terized by deficiency ... relieving parents' anxiety over inheriting a genetic disease or ..... Example of abnormal pattern of electrophoretic separation of GAGs in amniotic fluid in MPS VI fetus (A) compared with a.
Dijk, Sandra van
The cumulative lifetime risk of developing breast cancer for a Dutch woman is about 12%. In some families breast cancer seems to occur even more frequently or women fall ill at a relatively young age. Such families may have a genetic susceptibility towards breast cancer. To learn more about the
Permuth-Wey, Jennifer; Vadaparampil, Susan; Rumphs, Alnecia; Kinney, Anita Yeomans; Pal, Tuya
Printed educational materials (PEM) can serve as important tools to enhance and reinforce information presented during genetic counseling (GC) for BRCA1/2 testing, yet few such materials have been specifically developed for the Black community. The goal of the current study was to develop a BRCA1/2 genetic education booklet for Black women at increased risk for hereditary breast and ovarian cancer (HBOC). Investigators identified available PEM about BRCA1/2 targeted toward Blacks. To obtain possible perspectives of the target population regarding modified and newly developed materials, a Community Advisory Panel (CAP) comprising breast cancer survivors, advocates, and community leaders was convened. While the CAP felt PEM were an important adjunct to GC, the panel recommended developing materials that were more personalized and relevant to Black women. A 12-page booklet that follows the flow of a standard GC session was developed; it includes a limited amount of technical information, incorporates familiar terms and images to describe key concepts, and contains vignettes and photographs of Black women. Upon review of the newly developed booklet, CAP members agreed their input had been well implemented, and only had minor suggestions. The booklet is currently being used in a population-based study of BRCA1/2 mutations among Black women diagnosed with early-onset breast cancer. Involving members of the target community is critical to the development of culturally tailored PEM. Further evaluation of the utility of our booklet in increasing awareness and understanding of HBOC and promoting informed decision-making regarding genetic testing and medical management among Black women is needed. (c) 2010 Wiley-Liss, Inc.
Oncologist discussing screening and prevention strategies Day 4: Cancer Genetics and My Family • Sharing information with family • Video: Patient...individual meeting with a study investigator (Niendorf). This information will then be shared with the team for final refinement and development... BiKEs ). Specific Aims: 1) Evaluate response of primary ovarian cancer cells grown in immunodeficient mice (Avatar mice) to targeted cellular
Leandro, Bruna; Paneque, Milena; Sequeiros, Jorge; Porto, Graça
There is a general consensus that HFE- related Hereditary Haemochromatosis (HFE-HH) should be diagnosed at early stages in pre-symptomatic individuals, in order to prevent the most severe consequences of iron overload. In Portugal, despite an increasing number of requests for genetic diagnosis of this rare disease, there is not a corresponding increase in requests for genetic counselling. The objective of the present study was to evaluate physicians' main motivations for requesting HFE genotyping or genetic counselling for HFE-HH. We assessed current medical practices regarding family testing and diagnosis and discuss whether these can be improved in order to increase the effectiveness of disease prevention. Our results show there is a general lack of knowledge about the selection of patient cases that should be sent for genetic counseling or for molecular testing of HFE-HH by physicians (especially by general practitioners). The lack of family-based screening may indirectly compromise the efficiency of disease prevention in terms of early diagnosis and treatment. We concluded it is necessary to circulate more information about Hereditary Haemochromatosis among health professionals in order to improve strategies for its early diagnosis.
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.
Braha, Elena; Martiniuc, Violeta; Panzaru, Monica; Caba, Lavinia; Butnariu, Lăcrămioara; Onofriescu, M; Socolov, Demetra; Grigore, Mihaela; Nemescu, D; Mihălceanu, Elena; Iliev, G; Gorduza, E V
Prenatal diagnosis (PD) by FISH or cell culture is today an important tool for the prevention of chromosomal anomalies. A difficult issue is prenatal detection of gonosomal anomalies. Most gonosomal anomalies neither affect life expectancy nor cause psychomotor retardation, but sexualization disorders and the lack of reproductive potential are a constant finding. This study aimed at identifying the medical problems the specialists and the parental couple are faced with at the time of the diagnosis of fetal gonosomal anomalies. This retrospective study (2004-2012) was conducted in the Prenatal Genetic Diagnosis Department of "CuzaVoda" Maternity by FISH technique in 1685 pregnancies. The AneuVysion probes were used for identifying and enumerating chromosomes 13, 18, 21, X, and Y via fluorescence in situ hybridization (FISH) in interphase nuclei obtained from amniotic fluid. Fifteen fetuses were selected in which we were faced with difficulties interpreting the number of gonosomes: monosomy X (5 cases), pseudomosaicism XX/XY (3), trisomy XXY (3 cases), trisomy XYY (1 case), 45,X/46.XX mosaicism (1 case) and triploidy XXX (2 cases). Later, by repeating the analysis, 2 cases with pseudomosaicism XX/XY were excluded. A case highlighting the limitations of the FISH test was that of a fetus in which the FISH test revealed trisomy XXY, while postnatal karyotyping showed a six cell line mosaicism (marker and ring X chromosomes). All parental couples received nondirective genetic counseling, respecting the individuals' dignity and rights of self-determination. Parents received information on the natural course of the disease, treatment options, and psychological support and were involved in their child's recovery.
Speight, Beverley; Tischkowitz, Marc
Germline mutations in BRCA1/BRCA2 significantly increase the risk of breast and ovarian cancer in women. This case report describes a BRCA1 germline mutation identified in a woman with stage IV epithelial ovarian cancer and the provision of genetic counseling about BRCA1-associated breast cancer risk in the three years following diagnosis. The report centers on the patient’s enquiry about risk-reducing breast surgery. We focus on the challenges for health professionals and patients in underst...
Allen, R.C.; Nachtman, R.G.; Belmont, J.W.; Rosenblatt, H.M.
Bruton X-linked agammaglobulinemia (XLA) is a phenotypically recessive genetic disorder of B lymphocyte development. Female carriers of XLA, although asymptomatic, have a characteristic B cell lineage-specific skewing of the pattern of X inactivation. Skewing apparently results from defective growth and maturation of B cell precursors bearing a mutant active X chromosome. In this study, carrier status was tested in 58 women from 22 families referred with a history of agammaglobulinemia. Primary carrier analysis to examine patterns of X inactivation in CD19[sup +] peripheral blood cells (B lymphocytes) was conducted using quantitative PCR at the androgen-receptor locus. Obligate carriers of XLA demonstrated >95% skewing of X inactivation in peripheral blood CD19[sup +] cells but not in CD19[sup [minus
Impact of rapid genetic counselling and testing on the decision to undergo immediate or delayed prophylactic mastectomy in newly diagnosed breast cancer patients: findings from a randomised controlled trial
Wevers, M R; Aaronson, N K; Verhoef, S; Bleiker, E M A; Hahn, D E E; Kuenen, M A; van der Sanden-Melis, J; Brouwer, T; Hogervorst, F B L; van der Luijt, R B; Valdimarsdottir, H B; van Dalen, T; Theunissen, E B M; van Ooijen, B; de Roos, M A; Borgstein, P J; Vrouenraets, B C; Vriens, E; Bouma, W H; Rijna, H; Vente, J P; Witkamp, A J; Rutgers, E J T; Ausems, M G E M
Background: Female breast cancer patients with a BRCA1/2 mutation have an increased risk of contralateral breast cancer. We investigated the effect of rapid genetic counselling and testing (RGCT) on choice of surgery. Methods: Newly diagnosed breast cancer patients with at least a 10% risk of a BRCA1/2 mutation were randomised to an intervention group (offer of RGCT) or a control group (usual care; ratio 2 : 1). Primary study outcomes were uptake of direct bilateral mastectomy (BLM) and delayed contralateral prophylactic mastectomy (CPM). Results: Between 2008 and 2010, we recruited 265 women. On the basis of intention-to-treat analyses, no significant group differences were observed in percentage of patients opting for a direct BLM (14.6% for the RGCT group vs 9.2% for the control group; odds ratio (OR) 2.31; confidence interval (CI) 0.92–5.81; P=0.08) or for a delayed CPM (4.5% for the RGCT group vs 5.7% for the control group; OR 0.89; CI 0.27–2.90; P=0.84). Per-protocol analysis indicated that patients who received DNA test results before surgery (59 out of 178 women in the RGCT group) opted for direct BLM significantly more often than patients who received usual care (22% vs 9.2% OR 3.09, CI 1.15–8.31, P=0.03). Interpretation: Although the large majority of patients in the intervention group underwent rapid genetic counselling, only a minority received DNA test results before surgery. This may explain why offering RGCT yielded only marginally significant differences in uptake of BLM. As patients who received DNA test results before surgery were more likely to undergo BLM, we hypothesise that when DNA test results are made routinely available pre-surgery, they will have a more significant role in surgical treatment decisions. PMID:24423928
Brabbing-Goldstein, Dana; Reches, Adi; Svirsky, Ran; Bar-Shira, Anat; Yaron, Yuval
Chromosomal microarray analysis is standard of care in fetuses with malformations, detecting clinically significant copy number variants in 5-7% of cases over conventional karyotyping. However, it also detects variants of uncertain significance in 1.6-4.2% of the cases, some of which are low-penetrance neuro-susceptibility loci. The interpretation of these variants in pregnancy is particularly challenging because the significance is often unclear and the clinical implications may be difficult to predict. The purpose of this study was to describe counseling dilemmas regarding low-penetrance neuro-susceptibility loci that are detected by prenatal chromosomal microarray analysis. During the study period (January 2014 to December 2015), 700 prenatal chromosomal microarray analyses were performed. Cases were categorized as "indicated" (n=375) if there were abnormal sonographic findings or suggestive medical history and "patient choice" (n=325) in the presence of a structurally normal fetus with no other particular indication. The laboratory reported on copy number variants ≥400 Kb in size in loci known to be associated with genetic syndromes and ≥1 Mb in other areas of genome. Results were classified as gross aneuploidy, copy number variants, and normal. Copy number variants were categorized according to the American College of Medical Genetics standards and guidelines: pathogenic, variants of uncertain significance, or benign. Variants of uncertain significance were further subdivided into categories of likely pathogenic, variants of uncertain significance with no subclassification, and likely benign. Statistical analysis was performed with the use of Chi square test and Fisher's exact test to compare intergroup differences in incidence of the different result categories and demographic data. Patient choice cases became more prevalent with time (35.5% in the beginning of the study, compared with 48.4% at the end of the study period). Clinically significant copy
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
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)
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.
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.
Sie Aisha S
Full Text Available Abstract 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 DNA-testing for mutations in BRCA1/2 genes. The initial consultation covers generic information regarding hereditary breast cancer and the (impossibilities of DNA-testing, prior to such testing. Patients with breast cancer may see this information as irrelevant or unnecessary because individual genetic advice depends on DNA-test results. Also, verbal information is not always remembered well by patients. A different format for this information prior to DNA-testing is possible: replacing initial face-to-face genetic counseling (DNA-intake procedure by telephone, written and digital information sent to patients’ homes (DNA-direct procedure. Methods/design In this intervention study, 150 patients with breast cancer referred to the department of Clinical Genetics of the Radboud University Nijmegen Medical Centre are given the choice between two procedures, DNA-direct (intervention group or DNA-intake (usual care, control group. During a triage telephone call, patients are excluded if they have problems with Dutch text, family communication, or of psychological or psychiatric nature. Primary outcome measures are satisfaction and psychological distress. Secondary outcome measures are determinants for the participant’s choice of procedure, waiting and processing times, and family characteristics. Data are collected by self-report questionnaires at baseline and following completion of genetic counseling. A minority of participants will receive an invitation for a 30 min semi-structured telephone interview, e.g. confirmed carriers of a BRCA1/2 mutation, and those who report problems with the procedure. Discussion This study compares current practice
Sie, Aisha S; Spruijt, Liesbeth; van Zelst-Stams, Wendy A G; Mensenkamp, Arjen R; Ligtenberg, Marjolijn J; Brunner, Han G; Prins, Judith B; Hoogerbrugge, Nicoline
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 DNA-testing for mutations in BRCA1/2 genes. The initial consultation covers generic information regarding hereditary breast cancer and the (im)possibilities of DNA-testing, prior to such testing. Patients with breast cancer may see this information as irrelevant or unnecessary because individual genetic advice depends on DNA-test results. Also, verbal information is not always remembered well by patients. A different format for this information prior to DNA-testing is possible: replacing initial face-to-face genetic counseling (DNA-intake procedure) by telephone, written and digital information sent to patients' homes (DNA-direct procedure). In this intervention study, 150 patients with breast cancer referred to the department of Clinical Genetics of the Radboud University Nijmegen Medical Centre are given the choice between two procedures, DNA-direct (intervention group) or DNA-intake (usual care, control group). During a triage telephone call, patients are excluded if they have problems with Dutch text, family communication, or of psychological or psychiatric nature. Primary outcome measures are satisfaction and psychological distress. Secondary outcome measures are determinants for the participant's choice of procedure, waiting and processing times, and family characteristics. Data are collected by self-report questionnaires at baseline and following completion of genetic counseling. A minority of participants will receive an invitation for a 30 min semi-structured telephone interview, e.g. confirmed carriers of a BRCA1/2 mutation, and those who report problems with the procedure. This study compares current practice of an intake consultation (DNA-intake) to a home informational
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
Wevers, Marijke R; Aaronson, Neil K; Bleiker, Eveline M A; Hahn, Daniela E E; Brouwer, Titia; van Dalen, Thijs; Theunissen, Evert B; van Ooijen, Bart; de Roos, Marnix A; Borgstein, Paul J; Vrouenraets, Bart C; Vriens, Eline; Bouma, Wim H; Rijna, Herman; Vente, Johannes P; Kuenen, Marianne A; van der Sanden-Melis, Jacoline; Witkamp, Arjen J; Rutgers, Emiel J Th; Verhoef, Senno; Ausems, Margreet G E M
Rapid genetic counseling and testing (RGCT) in newly diagnosed high-risk breast cancer (BC) patients may influence surgical treatment decisions. To successfully integrate RGCT in practice, knowledge of professionals', and patients' attitudes toward RGCT is essential. Between 2008 and 2010, we performed a randomized clinical trial evaluating the impact of RGCT. Attitudes toward and experience with RGCT were assessed in 265 patients (at diagnosis, 6- and 12-month follow-up) and 29 medical professionals (before and after the recruitment period). At 6-month follow-up, more patients who had been offered RGCT felt they had been actively involved in treatment decision-making than patients who had been offered usual care (67% vs 48%, P = 0.06). Patients who received DNA-test results before primary surgery reported more often that RGCT influenced treatment decisions than those who received results afterwards (P genetic counseling and testing (GCT) should preferably take place between diagnosis and surgery. Most professionals (72%) agreed that RGCT should be routinely offered to eligible patients. Most patients (74%) and professionals (85%) considered surgeons the most appropriate source for referral. RGCT is viewed as helpful for newly diagnosed high-risk BC patients in choosing their primary surgery and should be offered routinely by surgeons. © 2017 Wiley Periodicals, Inc.
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.
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.
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
Wevers, Marijke R; Rutgers, Emiel JTh; Aaronson, Neil K; Ausems, Margreet GEM; Verhoef, Senno; Bleiker, Eveline MA; Hahn, Daniela EE; Hogervorst, Frans BL; Luijt, Rob B van der; Valdimarsdottir, Heiddis B; Hillegersberg, Richard van
It has been estimated that between 5% and 10% of women diagnosed with breast cancer have a hereditary form of the disease, primarily caused by a BRCA1 or BRCA2 gene mutation. Such women have an increased risk of developing a new primary breast and/or ovarian tumor, and may therefore opt for preventive surgery (e.g., bilateral mastectomy, oophorectomy). It is common practice to offer high-risk patients genetic counseling and DNA testing after their primary treatment, with genetic test results being available within 4-6 months. However, some non-commercial laboratories can currently generate test results within 3 to 6 weeks, and thus make it possible to provide rapid genetic counseling and testing (RGCT) prior to primary treatment. The aim of this study is to determine the effect of RGCT on treatment decisions and on psychosocial health. In this randomized controlled trial, 255 newly diagnosed breast cancer patients with at least a 10% risk of carrying a BRCA gene mutation are being recruited from 12 hospitals in the Netherlands. Participants are randomized in a 2:1 ratio to either a RGCT intervention group (the offer of RGCT directly following diagnosis with tests results available before surgical treatment) or to a usual care control group. The primary behavioral outcome is the uptake of direct bilateral mastectomy or delayed prophylactic contralateral mastectomy. Psychosocial outcomes include cancer risk perception, cancer-related worry and distress, health-related quality of life, decisional satisfaction and the perceived need for and use of additional decisional counseling and psychosocial support. Data are collected via medical chart audits and self-report questionnaires administered prior to randomization, and at 6 month and at 12 month follow-up. This trial will provide essential information on the impact of RGCT on the choice of primary surgical treatment among women with breast cancer with an increased risk of hereditary cancer. This study will also provide
Proposes that a discipline of "counseling studies" be considered as an extension of counseling and a contribution to social guidance. Suggests features of such a discipline, including: a focus on the individual person; interdisciplinarity; humanistic values; applied and theoretical dialectic; critical attitude; and dynamic nature.…
Javier E. Manrique
Full Text Available El cáncer es una enfermedad genética producto de alteraciones en la secuencia o expresión del ADN. Estas alteraciones, según su origen, nos permiten clasificar el cáncer como esporádico y hereditario o familiar. En base a los registros de cáncer, en el Perú se espera que del 5 al 30% de todos los pacientes con cáncer, que equivale aproximadamente entre 2000 a 12 000 personas, presentarían cáncer del tipo familiar o hereditario, lo que representaría un similar número de familias con un riesgo mayor de desarrollar cáncer que el de la población en general. El propósito de la asesoría genética es identificar cánceres hereditarios en una familia con el fin de prevenir la enfermedad y la muerte por este mal. Es una estrategia que nos puede permitir detectar y diagnosticar con antelación estos cánceres. Es por este motivo que en el Instituto Nacional de Enfermedades Neoplásicas del Perú se realizan consultas de diagnóstico y asesoría genética desde hace cinco años, constituyéndose en un elemento importante para la lucha contra el cáncer, sin embargo, para lograr un mayor impacto en la salud requiere ampliar y fortalecer el proceso de capacitación en genética y asesoría genética a profesionales de la salud, sobre todo a médicos y enfermerasCancer is a genetic disease caused by changes in the DNA sequence or expression. Based on the origin of these changes, cancer can be classified as sporadic, and hereditary or familial. Based on the cancer records in Peru, it is expected that 5 to 30% of all patients with cancer, i.e. about 2,000 to 12,000 people, have hereditary cancer, meaning that a similar number of families have a higher risk of developing cancer compared to the general population. Therefore, the purpose of genetic counseling is to identify hereditary cancers running in the family in order to prevent diseases and deaths caused by this condition. It is a strategy that allows us to detect and diagnose these types of
Previous research shows that women often lack knowledge regarding the kinds of information required to determine inherited risk as well as on the process and content of risk assessment/genetic testing...
Previous research has shown that women often lack knowledge regarding the kinds of information that are required to determine inherited risk as well as on the process and content of risk assessment/genetic testing...
.... Women will be randomly assigned to a standard or enhanced intervention testing the effectiveness of the CIS in increasing a woman's knowledge of inherited disease, risk assessment and genetic testing...
... help with many specific issues, including: Communication problems Sexual difficulties Conflicts about child rearing or blended families Substance abuse Anger Infidelity Marriage counseling might also be helpful in cases ...
... 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 ...
Aalfs, Cora M.; Oort, Frans J.; de Haes, Hanneke C. J. M.; Leschot, Nico J.; Smets, Ellen M. A.
OBJECTIVE: To investigate the influence of a pregnancy and other counselee characteristics on several aspects of counselor-counselee interaction during the initial clinical genetic consultation. METHODS: The consultations, of a group of pregnant women (n = 82) and of a control group of non-pregnant
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.
Scheel, Michael J.; Berman, Margit; Friedlander, Myrna L.; Conoley, Collie W.; Duan, Changming; Whiston, Susan C.
A suspected decline in published counseling-related research in "The Counseling Psychologist" ("TCP") and the "Journal of Counseling Psychology" ("JCP") was investigated through content analyses of the two journals from 1979 to 2008. A marked decline in counseling-related research may signify a shift in emphasis away from counseling as the most…
MacLeod, Rhona; Moldovan, Ramona; Stopford, Cheryl; Ferrer-Duch, Mariangels
Predictive testing for Huntington's disease (HD) has been available for individuals at risk of HD by direct mutation analysis since 1993. International Predictive test guidelines recommend that support is offered following the result regardless of test outcome. However, there is lack of an evidence base regarding what this support should look like and how it might work in practice. A service improvement initiative looked at the feasibility of offering a narrative group session co-facilitated by a genetic counsellor and clinical psychologist, to individuals who had tested mutation negative for HD. The narrative session was evaluated from the perspective of group participants. Individuals who tested mutation negative at a genetic centre in the North of England over a 5-year period were invited to attend a narrative group session. 52 people were contacted and 9 people agreed to participate. Participants completed standardised questionnaires (PHQ-9 and GAD-7) before and after the session and a detailed written evaluation. Participants' comments were analysed thematically. Participants were overwhelmingly positive about the narrative session finding it a safe and enjoyable way to explore difficult life experiences. Reported benefits included feeling less isolated, being inspired by other people's stories and connecting as a group. All 9 participants said they would recommend the narrative session to anyone impacted by HD. The narrative group session was considered an interesting and useful approach to facilitating adaptation following a negative predictive test result for HD.
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.
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
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 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 long and used more complex language reflected in readability indices and multi-syllabic vocabulary (measures averaging puse of technical terms were characterized by shorter visits, high readability demand, slow speech speed, fewer and more
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
Mieusset, Roger; Fauquet, Isabelle; Chauveau, Dominique; Monteil, Laetitia; Chassaing, Nicolas; Daudin, Myriam; Huart, Antoine; Isus, François; Prouheze, Cathy; Calvas, Patrick; Bieth, Eric; Bujan, Louis; Faguer, Stanislas
While reproductive technologies are increasingly used worldwide, epidemiologic, clinical and genetic data regarding infertile men with combined genital tract and renal abnormalities remain scarce, preventing adequate genetic counseling. In a cohort-based study, we assessed the prevalence (1995-2014) and the clinical characteristics of renal disorders in infertile males with genital tract malformation. In a subset of 34 patients, we performed a detailed phenotype analysis of renal and genital tract disorders. Among the 180 patients with congenital uni- or bilateral absence of vas deferens (CU/BAVD), 45 (25 %) had a renal malformation. We also identified 14 infertile men with combined seminal vesicle (SV) and renal malformation but no CU/BAVD. Among the 34 patients with detailed clinical description, renal disease was unknown before the assessment of the infertility in 27 (79.4 %), and 7 (20.6 %) had chronic renal failure. Four main renal phenotypes were observed: solitary kidney (47 %); autosomal-dominant polycystic kidney disease (ADPKD, 0.6 %); uni- or bilateral hypoplastic kidneys (20.6 %); and a complex renal phenotype associated with a mutation of the HNF1B gene (5.8 %). Absence of SV and azoospermia were significantly associated with the presence of a solitary kidney, while dilatation of SV and necroasthenozoospermia were suggestive of ADPKD. A dominantly inherited renal disease (ADPKD or HNF1B-related nephropathy) is frequent in males with infertility and combined renal and genital tract abnormalities (26 %). A systematic renal screening should be proposed in infertile males with CU/BAVD or SV disorders.
... Services Directory Cancer Prevention Overview Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...
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
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…
This article provides a historical, political, and organizational analysis regarding counseling psychology's involvement in professional school counseling. Issues discussed include collaboration, curriculum and training, and professional identity, as well as the commonalities that bind counselor education/professional school counseling and…
Whittaker, Shaun R.
Addresses the psychological effects of torture (including solitary confinement) and the implications of torture for counseling and the counseling psychology profession. Discusses counseling issues related to diagnosis of torture victims, treatment, special considerations for counselors, use of testimony as counseling technique, and prognosis.…
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.
Missed therapeutic and prevention opportunities in women with BRCA-mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: A review of the literature.
Hoskins, Paul J; Gotlieb, Walter H
Answer questions and earn CME/CNE Fifteen percent of women with epithelial ovarian cancer have inherited mutations in the BRCA breast cancer susceptibility genes. Knowledge of her BRCA status has value both for the woman and for her family. A therapeutic benefit exists for the woman with cancer, because a new family of oral drugs, the poly ADP-ribose polymerase (PARP) inhibitors, has recently been approved, and these drugs have the greatest efficacy in women who carry the mutation. For her family, there is the potential to prevent ovarian cancer in those carrying the mutation by using risk-reducing surgery. Such surgery significantly reduces the chance of developing this, for the most part, incurable cancer. Despite these potential benefits, referral rates for genetic counseling and subsequent BRCA testing are low, ranging from 10% to 30%, indicating that these therapeutic and prevention opportunities are being missed. The authors have reviewed the relevant available literature. Topics discussed are BRCA and its relation to ovarian cancer, the rates of referral for genetic counseling/BRCA testing, reasons for these low rates, potential strategies to improve on those rates, lack of effectiveness of current screening strategies, the pros and cons of risk-reducing surgery, other prevention options, and the role and value of PARP inhibitors. CA Cancer J Clin 2017;67:493-506. © 2017 American Cancer Society. © 2017 American Cancer Society.
No Abstract Available A case that underwent bilateral video-assisted thoracoscopic surgical (VATS) biopsy combined with pneumonectomy is presented. The patient developed hypoxia during the contralateral VATS biopsy. His hypoxia was treated with positive expiratory pressure (PEEP) to the dependent lung and apneic ...
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…
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 ...
This article overviews three extremely important skills within the training of a counselling psychologist environment: active listening, use of questions and silences. It is now a well-established and widely accepted concept that counselling plays a central role in the development of an individual. Counselling is a specialist ...
Krdžalić, Alisa; Kovčić, Jasmina; Krdžalić, Goran; Jahić, Elmir
Background: The nutrition support complications after cardiac surgery should be detected and treated on time. Aim: To show the incidence and type of nutritional support complication in patients after cardiac surgery. Methods: The prospective study included 415 patients who underwent cardiac surgery between 2010 and 2013 in Clinic for Cardiovascular Disease of University Clinical Center Tuzla. Complications of the delivery system for nutrition support (NS) and nutrition itself were analy...
... the mother can cause bleeding in the brain ( hemorrhagic stroke ). The effects of high blood pressure on the ... Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions ...
Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders. ... Egyptian Journal of Medical Human Genetics ... In this case report, we present the challenges that we met in diagnosis and counseling of a family with both Tay–Sachs and maple syrup urine disease depending mainly on ...
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
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
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...
Full Text Available Pigmented villonodular synovitis (PVNS is a rare, benign, but a locally aggressive tumor. It is characterized by the proliferation of synovial membrane, but it can also be seen in tendon sheaths and bursae. Clinical presentation of solitary lesions include compression and locking of the joint suggesting loose bodies in the joint and a subsequent findings of an effusion, whereas diffuse lesions manifest with pain and chronic swelling. In this article, we presented a curious case of PVNS in a female patient who have been followed up due to an acetabular cystic lesion. She underwent total hip arthroplasty for severe osteoarthritis of the hip joint and associated pain. The diagnosis of PVNS was established intraoperatively. (The Medical Bulletin of Haseki 2014; 52: 235-7
S. S. Davydova
Full Text Available Aim. To study the efficacy of cardiovascular non-invasive complex assessment and pre-operative preparation in hypertensive patients needed in surgical treatment of urology dis- eases.Material and methods. Males (n=883, aged 40 to 80 years were included into the study. The main group consisted of patients that underwent laparotomic nephrectomy (LTN group; n=96 and patients who underwent laparoscopic nephrectomy (LSN group; n=53. Dynamics of ambulatory blood pressure monitoring (ABPM data was analyzed in these groups in the immediate postoperative period. The efficacy of a package of non-invasive methods for cardiovascular system assessment was studied. ABPM was performed after nephrectomy (2-nd and 10-th days after surgery in patients with complaints of vertigo episodes or intense general weakness to correct treatment.Results. In LTN group hypotension episodes or blood pressure (BP elevations were observed in 20 (20.8% and 22 (22.9% patients, respectively, on the 2-nd day after the operation. These complications required antihypertensive treatment correction. Patients with hypotension episodes were significantly older than patients with BP elevation and had significantly lower levels of 24-hour systolic BP, night diastolic BP and minimal night systolic BP. Re-adjustment of antihypertensive treatment on the 10-th postoperative day was required to 2 (10% patients with hypotension episodes and to 1 (4.5% patient with BP elevation. Correction of antihypertensive therapy was required to all patients in LSN group on the day 2, and to 32 (60.4% patients on the 10-th day after the operation. Reduction in the incidence of complications (from 1.2% in 2009 to 0.3% in 2011, p<0.001 was observed during the application of cardiovascular non-invasive complex assessment and preoperative preparation in hypertensive patients.Conclusion. The elaborated management algorithm for patients with concomitant hypertension is recommended to reduce the cardiovascular
S. S. Davydova
Full Text Available Aim. To study the efficacy of cardiovascular non-invasive complex assessment and pre-operative preparation in hypertensive patients needed in surgical treatment of urology dis- eases.Material and methods. Males (n=883, aged 40 to 80 years were included into the study. The main group consisted of patients that underwent laparotomic nephrectomy (LTN group; n=96 and patients who underwent laparoscopic nephrectomy (LSN group; n=53. Dynamics of ambulatory blood pressure monitoring (ABPM data was analyzed in these groups in the immediate postoperative period. The efficacy of a package of non-invasive methods for cardiovascular system assessment was studied. ABPM was performed after nephrectomy (2-nd and 10-th days after surgery in patients with complaints of vertigo episodes or intense general weakness to correct treatment.Results. In LTN group hypotension episodes or blood pressure (BP elevations were observed in 20 (20.8% and 22 (22.9% patients, respectively, on the 2-nd day after the operation. These complications required antihypertensive treatment correction. Patients with hypotension episodes were significantly older than patients with BP elevation and had significantly lower levels of 24-hour systolic BP, night diastolic BP and minimal night systolic BP. Re-adjustment of antihypertensive treatment on the 10-th postoperative day was required to 2 (10% patients with hypotension episodes and to 1 (4.5% patient with BP elevation. Correction of antihypertensive therapy was required to all patients in LSN group on the day 2, and to 32 (60.4% patients on the 10-th day after the operation. Reduction in the incidence of complications (from 1.2% in 2009 to 0.3% in 2011, p<0.001 was observed during the application of cardiovascular non-invasive complex assessment and preoperative preparation in hypertensive patients.Conclusion. The elaborated management algorithm for patients with concomitant hypertension is recommended to reduce the cardiovascular
LIMITATION OF ABSTRACT 18. NUMBER OF PAGES 19a. NAME OF RESPONSIBLE PERSON 19b. TELEPHONE NUMBER (Include area code ) I JUNIOR ENLISTED COUNSELING...counseling, the leader and subordinate conduct a review to identify and discuss the subordinate’s strengths and weaknesses and create an individual...counseling should occur following the initial session (per AR 600-20). Army regulation only requires reviews to be conducted on a quarterly basis for junior
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
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.
Full Text Available Objectives: The aim of this study was to investigate thefrequency of Helicobacter pylori in patients underwent endoscopyeastern Anatolia.Materials and methods: The patients whose endoscopicantral biopsies were taken for any reason in our endoscopyunit in February-June 2010 period were includedand retrospectively investigated. The frequency of Helicobacterpylori was determined as separating the patientsaccording to general, sex and the age groups. Antral biopsieswere stained with hematoxylin-eosin and modified giemsamethod and examined under light microscope andreported as (+ mild, (++ moderate, (+++ severe positiveaccording to their intensities.Results: Biopsy specimens of 1298 patients were includedinto the study. The mean age was 47.5 ± 17.5 years(range 14-88 and 607 of these patients (47% were male.Histopathological evaluation revealed that, 918 of the patientswere (71% positive and 379 (29% were negativefor Helicobacter pylori. Approximately 60% of our patientshad mild, 29% had moderate and 11% had severe positivityfor Helicobacter pylori. No significant difference wasfound in the frequency of Helicobacter pylori betweenwomen and men. The frequencies of Helicobacter pyloriwere 73.2%, 71.5%, 68.6% and 70.4%, respectively, inthe age groups of 14-30 years, 31-45 years, 46-60 yearsand 61-88 years.Conclusion: The frequency of Helicobacter pylori was71% in Eastern Anatolia Region. No statistically significantdifference was found between genders and agegroups in term of the frequency of Helicobacter pylori.
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
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…
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…
Yeo, Lay See; Tan, Soo Yin; Neihart, Maureen F.
Singapore, a tiny island nation, rose from 3rd- to 1st-world status in just 3 decades. Unlike in most developed countries, counseling in Singapore has a short history with faith-based beginnings and currently faces challenges to remain culturally relevant. The authors trace the development of Singapore's counseling services, provide an update…
Burlew, Larry D., Ed.; And Others
Special issue includes (1) "Introduction" (Burlew); (2) "Leisure Counseling (LC): A Call to Order" (Emerson); (3) "Integrating Leisure into Adult Career Counseling Process" (Pearson); (4) "Developmental Approach to LC Theory" (McDaniels); (5) "LC for the Elderly" (Clark); (6) "LC with AIDS…
McWhirter, Ellen Hawley
Counseling for empowerment is a complex and multifaceted process that requires, for some, a radical departure from the traditional conceptualization of the helper's role. The process of empowerment demands that professional helpers and their clients take an active, collaborative approach to identifying problems and goals. Drawing from counseling,…
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...
Smiley, Elizabeth B.
Provides a brief conceptual statement about bisexuality. Offers a review of existing research studies, and suggests issues to consider when counseling bisexual clients. Defines bisexuality and discusses prevalence studies, identity development, and implications for counseling. Claims that bisexuality challenges traditional rules about sexual…
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
Indigenous counselling has not been given attention in Nigeria's school counselling programme. This counselling gap was created by European colonialism, which succeeded in developing in the minds of the African that anything indigenous is local, unscientific and unorthodox. Indigenous counselling is one of the ...
... Likelihood of getting certain diseases Mental abilities Natural talents An abnormal trait (anomaly) that is passed down ... one of them has a genetic disorder. Information Human beings have cells with 46 chromosomes . These consist ...
Outlines Gestalt therapy techniques to increase active listening and counselor/client involvement in career counseling. Discusses awareness through dialog, role playing or "presentizing," and experiential "presentizing." Presents a sample dialog as illustration. (RC)
Audrézet, Marie Pierre; Munck, Anne; Scotet, Virginie; Claustres, Mireille; Roussey, Michel; Delmas, Dominique; Férec, Claude; Desgeorges, Marie
Newborn screening (NBS) for cystic fibrosis (CF) was implemented throughout France in 2002. It involves a four-tiered procedure: immunoreactive trypsin (IRT)/DNA/IRT/sweat test [corrected] was implemented throughout France in 2002. The aim of this study was to assess the performance of molecular CFTR gene analysis from the French NBS cohort, to evaluate CF incidence, mutation detection rate, and allelic heterogeneity. During the 8-year period, 5,947,148 newborns were screened for cystic fibrosis. The data were collected by the Association Française pour le Dépistage et la Prévention des Handicaps de l'Enfant. The mutations identified were classified into four groups based on their potential for causing disease, and a diagnostic algorithm was proposed. Combining the genetic and sweat test results, 1,160 neonates were diagnosed as having cystic fibrosis. The corresponding incidence, including both the meconium ileus (MI) and false-negative cases, was calculated at 1 in 4,726 live births. The CF30 kit, completed with a comprehensive CFTR gene analysis, provides an excellent detection rate of 99.77% for the mutated alleles, enabling the identification of a complete genotype in 99.55% of affected neonates. With more than 200 different mutations characterized, we confirmed the French allelic heterogeneity. The very good sensitivity, specificity, and positive predictive value obtained suggest that the four-tiered IRT/DNA/IRT/sweat test procedure may provide an effective strategy for newborn screening for cystic fibrosis.
Cichowski, Sara B; Dunivan, Gena C; Rogers, Rebecca G; Murrietta, Ambroshia M; Komesu, Yuko M
To estimate whether women who underwent mnemonic counseling had better recall of fecal incontinence therapies at 2 months and if mnemonic counseling resulted in greater satisfaction with physician counseling and improvement in quality of life when compared with a group who underwent standard counseling. Counseling-naive women with fecal incontinence were recruited from an academic urogynecology clinic. Women underwent physical examinations, completed the Quality of the Physician-Patient Interaction, recorded fecal incontinence treatment options they recalled, and completed the Fecal Incontinence Severity Index and Manchester Health Questionnaire immediately after counseling and again at 2 months. Ninety women consented to participate, were randomized, and completed baseline questionnaires. At baseline, women did not differ in age, ethnicity, education, Fecal Incontinence Severity Index, or Manchester Health Questionnaire scores. After counseling, the mnemonic group reported higher satisfaction on Quality of the Physician-Patient Interaction (66.4±6.5 compared with 62.2±10.7, P=.03). Ninety percent (81/90) of women followed up at 2 months. Our primary endpoint, 2-month recall of fecal incontinence treatments, was not different between groups (2.3±1.6 mnemonic counseling compared with 1.8±1.0 standard counseling; P=.08). Secondary endpoints for the mnemonic group reported greater improvement on total Manchester Health Questionnaire (P=.02), emotional (P=.03), sleep (0.045), role limitations (Pmnemonic aid did not improve recall at 2 months but improved patient satisfaction and quality of life at 2 months.
... 2 links) American Society for Surgery of the Hand Johns Hopkins Arthritis Center General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...
... neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...
... tone (hypotonia) and feeding difficulties. Problems with swallowing (dysphagia) can last throughout life. In addition, affected infants ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...
... in ammonia may lead to episodes of irritability, refusal to eat, and vomiting. In some affected individuals, ... links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ...
Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.3100.... Chapter 35 Counseling § 21.3100 Counseling. (a) Purpose of counseling. The purpose of counseling is to...)) (b) Availability of counseling. Counseling assistance is available for— (1) Identifying and removing...
Christensen, Kaare; McGue, Matt
The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...
Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
de Juan Jiménez, Inmaculada; García Casado, Zaida; Palanca Suela, Sarai; Esteban Cardeñosa, Eva; López Guerrero, José Antonio; Segura Huerta, Ángel; Chirivella González, Isabel; Sánchez Heras, Ana Beatriz; Juan Fita, Ma José; Tena García, Isabel; Guillen Ponce, Carmen; Martínez de Dueñas, Eduardo; Romero Noguera, Ignacio; Salas Trejo, Dolores; Goicoechea Sáez, Mercedes; Bolufer Gilabert, Pascual
During the first 6 years of the Program of Genetic Counselling in Cancer of Valencia (eastern Spain), 310 mutations (155 in BRCA1 and 155 in BRCA2) in 1,763 hereditary breast (BC) and ovarian cancer (OC) families were identified. Of the mutations found 105 were distinct (53 in BRCA1 and 52 in BRCA2), eight new and 37 recurrent. Two of the novel mutations were frame-shift placed in exons 2 and 11 of BRCA1 and the remaining six were placed in BRCA2; four frame-shift (three in exon 11 and one in exon 23), one deletion of the entire exon 19 and one in the intervening sequence of exon 22. The BRCA1 mutations with higher recurrence were c.66_68delAG, c.5123C > A, c.1961delA, c.3770_3771delAG and c.5152+5G > A that covered 45.2% of mutations of this gene. The age of onset of BCs of c.68_69delAG mutation carriers occurs later than for the other recurrent mutations of this gene (45 vs. 37 years; p = 0.008). The BRCA2 mutations with higher recurrence were c.9026_9030delATCAT, c.3264insT and c.8978_8991del14 which represented 43.2% of all mutations in this gene, being the most recurrent mutation by far c.9026_9030delATCAT that represents 21.3% of BRCA2 mutations and 10.6% of all mutations. Probands with family histories of BC and OC, or OC and/or BC in at least two first degree relatives, were the more likely to have BRCA1/BRCA2 mutations (35.2% of the total mutations). And that most BRCA1mutations (73.19% mutations) occurred in probands with early-onset BC or with family history of OC.
In the counselling of patients by the hospital social service, personal assistance and initiation of medical, vocational and social rehabilitation measures are intertwined. Counselling methods, scope, contents and goals are determined by the objective medical facts at hand as well as the subjective needs present in the individual case, and are limited by the structure of the hospital and its responsibility for acute care. Complementary to person- and problem-centered counselling with patients and their relatives as the nucleus of psychosocial coping with illness and disability, the hospital social service cooperates with the whole range of clinical professions involved in the individual case in reintegrating the patient, in particular with the physicians in charge of establishing the indication for rehabilitative measure, as well as with the entire range of rehabilitation carriers, with extra-clinical facilities and services within the health care/social protection system. Evaluation, which would be necessary in view of outcome control and increased effectiveness of the counselling services provided in the hospital, does not occur so far. (Case examples are given to illustrate hospital-based counselling work.)
Professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, and others) must meet these criteria before applying to be listed in the National Cancer Institute's Cancer Genetics Services Directory.
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.
Murdock, Nancy L.
Scheel et al. offer an interesting analysis on the publication rate of counseling-related research articles in counseling psychology's two major journals. In this reaction to their work, the author considers various aspects of their results and contemplates possible explanations for the decline of counseling-related publications. The author…
Yoshida, Kunihiro; Tamai, Mariko; Kubota, Takeo; Kawame, Hiroshi; Amano, Naoji; Ikeda, Shu-ichi; Fukushima, Yoshimitsu
Predictive genetic testing for hereditary neuromuscular diseases is a delicate issue for individuals at risk and their families, as well as for medical staff because these diseases are often late-onset and intractable. Therefore careful pre- and post-test genetic counseling and psychosocial support should be provided along with such genetic testing. The Division of Clinical and Molecular Genetics was established at our hospital in May 1996 to provide skilled professional genetic counseling. Since its establishment, 14 individuals have visited our clinic to request predictive genetic testing for hereditary neuromuscular diseases (4 for myotonic dystrophy, 6 for spinocerebellar ataxia, 3 for Huntington's disease, and 1 for Alzheimer's disease). The main reasons for considering testing were to remove uncertainty about the genetic status and to plan for the future. Nine of 14 individuals requested testing for making decisions about a forthcoming marriage or pregnancy (family planning). Other reasons raised by the individuals included career or financial planning, planning for their own health care, and knowing the risk for their children. At the first genetic counseling session, all of the individuals expressed hopes of not being a gene carrier and of escaping from fear of disease, and seemed not to be mentally well prepared for an increased-risk result. To date, 7 of the 14 individuals have received genetic testing and only one, who underwent predictive genetic testing for spinocerebellar ataxia, was given an increased-risk result. The seven individuals including the one with an increased-risk result, have coped well with their new knowledge about their genetic status after the testing results were disclosed. None of them has expressed regret. In pre-test genetic counseling sessions, we consider it quite important not only to determine the psychological status of the individual, but also to make the individual try to anticipate the changes in his/her life upon
Kirkpatrick, J. Stephen
With Maslow's hierarchy as a basis, the model provides structure for setting goals in counseling cases and overall programs. Different kinds of client concerns are identified, and suggestions are made for using these 14 categories. The article includes specific suggestions for using the model in diagnosis, evaluation, counselor education, and…
Kottler, Jeffrey A.; Kottler, Ellen
By necessity, today's teachers do much more than deliver instruction. In the classroom, on the playground, or even in the parking lot, teachers are often called upon to respond quickly and appropriately to students' social and emotional needs, drawing from instinct more than anything else. In this second edition of "Counseling Skills for…
McFadden, Emily Jean
This guide on counseling abused children was written to help counselors meet the needs of children and adolescents and to provide ways of working with the child's family. Chapter 1 presents an overview of child maltreatment by identifying types of maltreatment (neglect, physical abuse, sexual abuse and exploitation, and emotional abuse or neglect)…
Counseling and guidance services are vital in any school curriculum. Counselors may themselves be dealing with students of diverse abilities and handicaps. Counselors may have to work with students affected by drug addiction, fetal alcohol syndrome, homelessness, poverty, Acquired Immune Deficiency Syndrome (AIDS) and divorce. Students may present…
Remley, Theodore P.; Bacchini, Eugenio; Krieg, Paul
The counseling profession in Italy is in an early stage of development. No university preparation programs exist, and counselors are not employed in schools. Counselors maintain private practices, work in agencies, and are employed by the government. Counselors receive their preparation in Italy from professional associations in programs that…
Reviews the life of Abraham Maslow, a key founder of the humanistic approach to counseling, and his contributions to the counseling field. Maintains that Maslow's innovative work was often misinterpreted by both his admirers and his critics, yet remains highly relevant to current concerns in counseling. (Author/PVV)
Fong-Beyette, Margaret L.
Responds to Wittman's previous article on counseling and marketing by discussing concerns about two of Wittman's purposes for use of marketing: improved services in consumers and economic survival of counseling profession. Agrees that counseling profession needs to understand basic marketing principles used by business and health care industry;…
Matalon, Reuben; Matalon, Kimberlee Michals
Canavan disease is a severe leukodystrophy more common among Ashkenazi Jews. The enzyme defect, apartoacylase, has been identified, and the gene cloned. Only two mutations account for over 98% of all Jewish alleles with Canavan disease. The carrier frequency among healthy Jews is 1:37-58. Carrier detection and prenatal diagnosis can be accurately carried out using molecular analysis. When mutations are unknown, analysis of amniotic fluid for NAA using stable isotope dilution technique can be used for prenatal diagnosis.
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.5100.... Chapter 32 Counseling § 21.5100 Counseling. (a) Purpose. The purpose of counseling is: (1) To assist in... of counseling. Counseling assistance in available for— (1) Identifying and removing reasons for...
Counseling and education are correlated with women's satisfaction with all abortion care. They often assume a larger role in medical abortion because the patient is a more active participant in the abortion process. This article aims to enhance the practitioner's expertise in providing the information and care necessary for women considering early abortion with medical regimens. It offers general counseling guidelines and several likely clinical scenarios regarding the decision-making process, the screening of patients, and the initial and follow-up visits. Through effective communication, practitioners can provide the information and support that patients need to complete the abortion process safely and can help to strengthen women's confidence in managing their reproductive health experiences.
... People with this disorder may have difficulty swallowing (dysphagia), a failure to gain weight and grow at ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...
... nasal. The weakness can also cause difficulty swallowing (dysphagia). Related Information What does it mean if a ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...
... intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia). When the muscle cells of affected individuals are ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...
... can include stomach pain, nausea, vomiting, difficulty swallowing (dysphagia), decreased appetite, and weight loss. If the cancer ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...
... slow and slurred speech (dysarthria) and trouble swallowing (dysphagia). Most affected individuals also experience changes in personality ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...
... in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...
... or the genitourinary system, poor feeding, difficulty swallowing (dysphagia), and backflow of stomach acids into the esophagus ( ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...
... can include difficulty with speech (dysarthria) or swallowing (dysphagia), mild intellectual disability, and hearing loss caused by ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.7100... Bill-Active Duty) Counseling § 21.7100 Counseling. A veteran or servicemember may receive counseling from VA before beginning training and during training. (a) Purpose. The purpose of counseling is (1) To...
... 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...
Adesão ao tratamento após aconselhamento genético na Síndrome de Down Adhesión a la estimulación después del asesoramiento genético en Síndrome de Down Adherence to treatment post genetic counseling in Down Syndrome
Marcos Ricardo Datti Micheletto
tratamiento de sus hijos.Early stimulation provides significant benefits for Down syndrome individuals, their families and society. This study evaluated the effect of genetic counseling on the adherence behavior of parents to stimulation therapy, the factors that influence access to genetic counseling and to treatment and the satisfaction supplied by counseling. The parents of 12 individuals participated in this study using routine semi-structured interviews at three stages: before counseling, after counseling and follow-up. In spite of the difficulties to access genetic counseling and treatment, most parents were satisfied with the service. This process significantly influenced the adherence to treatment as, probably, the guidance was responsible for changes in behavior. Well-defined rules, useful in Down syndrome, promoted behavioral changes. Rules function as a discriminative stimulus for parents to adherence to the treatment of their children.
Hagedorn, W. Bryce; Culbreth, Jack R.; Cashwell, Craig S.
In this article, the authors discuss the Council for Accreditation of Counseling and Related Educational Programs' (CACREP) role in furthering the specialty of addiction counseling. After sharing a brief history and the role of counselor certification and licensure, the authors share the process whereby CACREP developed the first set of…
... 45 Public Welfare 4 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling... Activities Prohibited § 2555.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the counseling or guidance of...
... 34 Education 1 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling... Programs or Activities Prohibited § 106.36 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the counseling or...
... 32 National Defense 2 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling... Programs or Activities Prohibited § 196.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the counseling or...
... 45 Public Welfare 3 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling... Activities Prohibited § 618.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the counseling or guidance of...
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.
... region of southwest Alaska known as the Kuskokwim River Delta. In Kuskokwim syndrome , contractures most commonly affect ... syndrome 1 General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...
... 1 in 75 in a small group of Jews who immigrated to Israel from southern Arabia (Habbanites), ... from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How ...
Visser, M. [=Marja; Mochtar, M. H.; de Melker, A. A.; van der Veen, F.; Repping, S.; Gerrits, T.
What do identifiable sperm donors feel about psychosocial counselling? Identifiable sperm donors found it important that psychosocial counselling focused on emotional consequences and on rules and regulations and they expected to have access to psychosocial counselling at the time that
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.
Wagner, C. C.; McMahon, B. T.
This article explores commonalities between rehabilitation counseling and the counseling approach known as motivational interviewing. Motivational interviewing is an empirically supported, clientcentered, directive counseling approach designed to promote client motivation and reduce motivational conflicts and barriers to change. The underpinnings…
Duncan, Jack A.; Moffett, Catherine F.
Abortion counseling is now legally within the purview of the school counselor. It is therefore essential that counselors determine their role in abortion counseling, the kind of training necessary, and whether professional organizations should develop counseling guidelines. (RP)
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…
Mitchum, Nancy Taylor
Conducted six-session group counseling program for Navy children (n=22) enrolled in public schools whose fathers were on deployment. Pretest and posttest scores on the Coopersmith Self-Esteem Inventory suggest that participation in the group counseling unit positively affected self-esteem of Navy children whose fathers were on deployment. Found…
Items 1 - 6 of 6 ... Archives: Edo Journal of Counselling. Journal Home > Archives: Edo Journal of Counselling. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register · Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives. 1 - 6 of 6 Items. 2011 ...
Clark, Arthur J.
Presents considerations and strategies for conceptualizing, recognizing, and modifying defense mechanisms through the group counseling process. Provides awareness of defense mechanisms in planning for and implementation of group counseling, describes interaction patterns for identifying defenses among group participants, and clarifies modification…
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…
Background. Genetic testing for BRCA mutations has been available in the Western Cape of South Africa since 2005, but practical implementation of genetic counselling and testing has been challenging. Objective. To describe an approach to breast cancer genetic counselling and testing developed in a ...
Kentwell, Maira; Dow, Eryn; Antill, Yoland; Wrede, C David; McNally, Orla; Higgs, Emily; Hamilton, Anne; Ananda, Sumitra; Lindeman, Geoffrey J; Scott, Clare L
Owing to the rapid increase in clinical need, we aimed to implement and review the performance of a mainstreaming model of germline BRCA1/2 genetic testing in eligible women with high grade non-mucinous epithelial ovarian cancer via a Genetic Counselor embedded in the gynecology oncology clinic. The model implemented involved a specialized referral form, weekly genetics-lead multidisciplinary review of referrals, and pre- and post-test genetic counseling provided by an embedded genetic counselor during chemotherapy chair time. Performance and outcomes were retrospectively audited over the following two consecutive one year periods, including survey data on medical specialist comfort with mainstreaming and the model. Sixty-four women underwent mainstreamed BRCA1/2 testing over the two year post-implementation period with a rate of detection of BRCA1/2 pathogenic variants of 17%. The referral rate for eligible women significantly increased to over 90% (pgenetic testing results was less than five months, with >90% of patients receiving results during first line chemotherapy. Genetic counseling time decreased from 120 to 54min. Cancer specialists were comfortable with the model. The mainstreaming model proved effective, increasing uptake of genetic testing in eligible patients to over 90%; it was efficient for patients, genetic counselors and cancer specialists and acceptable to cancer specialists. It facilitated co-location of genetic and oncology service delivery but separation of clinical responsibility for genetic testing to a specialist genetics service, ensuring accurate and robust patient-centred care. Copyright © 2017 Elsevier Inc. All rights reserved.
Gerwood, J B
Counseling interventions with paranoid schizophrenics can be daunting. While chemical, directive, and behavioral controls often are considered important, nondirective counseling techniques used by the therapeutic staff may help schizophrenic patients explore their thoughts and feelings. Several nondirective concepts pioneered by Carl Rogers are examined. These methods, which represent basic concepts of the person-centered approach, are empathy, unconditional positive regard, and congruence. A brief illustration of an interaction with a patient diagnosed as paranoid schizophrenic is presented to suggest the effectiveness of Rogerian counseling.
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.9580...) VOCATIONAL REHABILITATION AND EDUCATION Post-9/11 GI Bill Counseling § 21.9580 Counseling. An individual may receive counseling from VA before beginning training and during training. VA will apply the provisions of...
... 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...
... 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...
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.7600...) VOCATIONAL REHABILITATION AND EDUCATION Educational Assistance for Members of the Selected Reserve Counseling § 21.7600 Counseling. A reservist may receive counseling from VA before beginning training and during...
... 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. 21.8100... Vietnam Veterans-Spina Bifida and Covered Birth Defects Counseling § 21.8100 Counseling. An eligible child requesting or receiving services and assistance under this subpart will receive professional counseling by VR...
... or a HUD roster of counselors, designed to meet a special housing counseling need, may be permitted... HOUSING COUNSELING PROGRAM Program Administration § 214.300 Counseling services. (a) Basic requirements... educational sessions must also offer individual counseling on the same topics covered in the group educational...
Corbishley, M. Anne; Yost, Elizabeth B.
Because career decision making affects all aspects of a person's life, career counseling must take into account client expectations, psychological characteristics and personality traits, nonverbal cues, and psychological variables affecting the counselor-client relationship. (SK)
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...
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
The basic difference between coaching and social counselling lies in a different interpretation of the client' starting situation. Social counselling understands the client' starting situation as problematic and attempts to normalize it, while coaching understands it as normal and attempts to develop it. The key similarity of the two approaches is encour- agement of the clients' own initiative. Coaching needs to be investigated within the field of developmental conceptions, since its focus on results supports, unintentionally, the dominant developmental paradigm. Focusing on solutions in coaching is questionable also within an organization, where its interests may channel the course of clients' search for their own solutions. The counselling doctrine of coaching can gain valuable insights by a reassessment of the concepts of development and normality, a domain in which it is likely to encounter social counselling.
Amundson, N. E.
Based on the view that unemployment can cause both community and individual problems, describes a model counseling intervention designed to counteract the negative trends associated with unemployment. Presents facilitative, confrontive, conceptual, prescriptive, and catalytic interventions. (RC)
Full Text Available At each stage of the resettlement process, the presence of counsel – legal advocates – can help refugees to present their complete cases efficiently and avoid unnecessary rejections. This provides benefits to decision makers as well.
Frischa Meivilona Yendi
Full Text Available Marriage is a bond between the outer and inner man as a husband who has not aged 25 years and women 21 years old wife is not with the purpose of achieving happiness. Marriage and family counseling is a profession that will be developed in Indonesia. Counseling emphasizes on changes contained in the family system. Stages counseling, theory and dynamics as well as the use of counseling skills in marriage and family counseling has similarities with individual counseling and group counseling.
... 10 Energy 4 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials... on the Basis of Sex in Education Programs or Activities Prohibited § 1042.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on...
... 13 Business Credit and Assistance 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials. 113.425 Section 113.425 Business Credit and Assistance SMALL BUSINESS... Activities Prohibited § 113.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A...
... 24 Housing and Urban Development 1 2010-04-01 2010-04-01 false Counseling and use of appraisal and counseling materials. 3.425 Section 3.425 Housing and Urban Development Office of the Secretary, Department... Activities Prohibited § 3.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A...
... 6 Domestic Security 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 17.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on...
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling materials. 23.425 Section 23.425 Pensions, Bonuses, and Veterans' Relief DEPARTMENT... Activities Prohibited § 23.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A...
... 49 Transportation 1 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 25.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on...
... 45 Public Welfare 1 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 86.36 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on...
... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 229.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on...
... 18 Conservation of Power and Water Resources 2 2010-04-01 2010-04-01 false Counseling and use of appraisal and counseling materials. 1317.425 Section 1317.425 Conservation of Power and Water Resources... Activities Prohibited § 1317.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A...
... 14 Aeronautics and Space 5 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials. 1253.425 Section 1253.425 Aeronautics and Space NATIONAL AERONAUTICS AND SPACE... § 1253.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall...
... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 146.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on...
... 7 Agriculture 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling... Education Programs and Activities Prohibited § 15a.36 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the...
... 29 Labor 1 2010-07-01 2010-07-01 true Counseling and use of appraisal and counseling materials. 36... in Education Programs or Activities Prohibited § 36.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of...
... 10 Energy 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials... in Education Programs or Activities Prohibited § 5.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the...
... 31 Money and Finance: Treasury 1 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling materials. 28.425 Section 28.425 Money and Finance: Treasury Office of the Secretary of the....425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not...
Coaching appears to be another modern counselling approach, practiced initially in the business world. It can to be analyzed through a comparison with social counselling. The roots of coaching go back to Ancient Greece.. Plato used to propagate the art of aksing questions by recording the Socratic dialogue. Today coaching is in substance related to mentoring, tutoring and coaching in sport. The core of the activity - according to different coaching definitions - is discovering the hidden pote...
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.
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.
Eijzenga, W; Bleiker, E M A; Hahn, D E E; Kluijt, I; Sidharta, G N; Gundy, C; Aaronson, N K
Up to three-quarters of individuals who undergo cancer genetic counseling and testing report psychosocial problems specifically related to that setting. The objectives of this study were to develop and evaluate the screening properties of a questionnaire designed to assess specific psychosocial problems related to cancer genetic counseling. We adopted the European Organisation for Research and Treatment of Cancer Quality of Life Group guidelines to develop the Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire, a 26-item questionnaire organized into six problem domains: genetics, practical issues, family, living with cancer, emotions, and children. The Distress Thermometer and a question per domain on the perceived need for extra psychosocial services were included as well. We administered the questionnaire and the Hospital Anxiety and Depression Scale to 127 counselees at the time of genetic counseling and 3 weeks after DNA test disclosure. As a gold standard to evaluate the screening properties of the questionnaire, participants underwent a semi-structured interview with an experienced social worker who assessed the presence and severity of problems per domain. A cutoff score representing responses of 'quite a bit' or 'very much' to one or more items within a given problem domain yielded moderate to high sensitivity across domains. A cutoff of 4 on the Distress Thermometer yielded high sensitivity. The questions regarding the perceived need for extra psychosocial services yielded high specificity and negative predictive values. The Psychosocial Aspects of Hereditary Cancer questionnaire in combination with the Distress Thermometer can be used as a first-line screener for psychosocial problems within the cancer genetic counseling setting. Copyright © 2014 John Wiley & Sons, Ltd.
Towe, Christopher T; White, Frances V; Grady, R Mark; Sweet, Stuart C; Eghtesady, Pirooz; Wegner, Daniel J; Sen, Partha; Szafranski, Przemyslaw; Stankiewicz, Pawel; Hamvas, Aaron; Cole, F Sessions; Wambach, Jennifer A
To describe disease course, histopathology, and outcomes for infants with atypical presentations of alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) who underwent bilateral lung transplantation. We reviewed clinical history, diagnostic studies, explant histology, genetic sequence results, and post-transplant course for 6 infants with atypical ACDMPV who underwent bilateral lung transplantation at St. Louis Children's Hospital. We compared their histology with infants with classic ACDMPV and compared their outcomes with infants transplanted for other indications. In contrast with neonates with classic ACDPMV who present with severe hypoxemia and refractory pulmonary hypertension within hours of birth, none of the infants with atypical ACDMPV presented with progressive neonatal respiratory failure. Three infants had mild neonatal respiratory distress and received nasal cannula oxygen. Three other infants had no respiratory symptoms at birth and presented with hypoxemia and pulmonary hypertension at 2-3 months of age. Bilateral lung transplantation was performed at 4-20 months of age. Unlike in classic ACDMPV, histopathologic findings were not distributed uniformly and were not diffuse. Three subjects had apparent nonmosaic genetic defects involving FOXF1. Two infants had extrapulmonary anomalies (posterior urethral valves, inguinal hernia). Three transplanted children are alive at 5-16 years of age, similar to outcomes for infants transplanted for other indications. Lung explants from infants with atypical ACDMPV demonstrated diagnostic but nonuniform histopathologic findings. The 1- and 5-year survival rates for infants with atypical ACDMPV are similar to infants transplanted for other indications. Given the clinical and histopathologic spectra, ACDMPV should be considered in infants with hypoxemia and pulmonary hypertension, even beyond the newborn period. Copyright © 2017 Elsevier Inc. All rights reserved.
Elsayegh, Nisreen; Barrera, Angelica M Gutierrez; Muse, Kimberly I; Lin, Heather; Kuerer, Henry M; Helm, Monica; Litton, Jennifer K; Arun, Banu K
The authors retrospectively aimed to determine which of the following three scenarios, related to DCIS entry into BRCAPRO, predicted BRCA mutation status more accurately: (1) DCIS as an invasive breast cancer (IBC) entered using the actual age of diagnosis, (2) DCIS as IBC entered with 10 years added to the actual age of diagnosis, and (3) DCIS entered as no cancer. Of the 85 DCIS patients included in the study, 19% (n = 16) tested positive for a BRCA mutation, and 81% (n = 69) tested negative. DCIS patients who tested positive for a BRCA mutation had a higher BRCAPRO risk estimation (34.61%) than patients who tested negative (11.4%) when DCIS was entered at the actual age of diagnosis. When DCIS was entered with 10 years added to the actual age at diagnosis, the BRCAPRO estimate was still higher amongst BRCA positive patients (25.4%) than BRCA negative patients (7.1%). When DCIS was entered as no cancer, the BRCAPRO estimate remained higher among BRCA positive patients (2.56%) than BRCA negative patents (1.98%). In terms of accuracy of BRCA positivity, there was no statistically significant difference between DCIS at age at diagnosis, DCIS at 10 years later than age at diagnosis, and DCIS entered as no cancer (AUC = 0.77, 0.784, 0.75, respectively: p = 0.60). Our results indicate that regardless of entry approach into BRCAPRO, there were no significant differences in predicting BRCA mutation in patients with DCIS.
Jessica A Hill
Full Text Available Clinical genetic testing is becoming an integral part of medical care for inherited disorders. While genetic testing and counseling are readily available in high-income countries, in low- and middle-income countries like Kenya genetic testing is limited and genetic counseling is virtually non-existent. Genetic testing is likely to become widespread in Kenya within the next decade, yet there has not been a concomitant increase in genetic counseling resources. To address this gap, we designed an interactive workshop for clinicians in Kenya focused on the genetics of the childhood eye cancer retinoblastoma. The objectives were to increase retinoblastoma genetics knowledge, build genetic counseling skills and increase confidence in those skills.The workshop was conducted at the 2013 Kenyan National Retinoblastoma Strategy meeting. It included a retinoblastoma genetics presentation, small group discussion of case studies and genetic counseling role-play. Knowledge was assessed by standardized test, and genetic counseling skills and confidence by questionnaire.Knowledge increased significantly post-workshop, driven by increased knowledge of retinoblastoma causative genetics. One-year post-workshop, participant knowledge had returned to baseline, indicating that knowledge retention requires more frequent reinforcement. Participants reported feeling more confident discussing genetics with patients, and had integrated more genetic counseling into patient interactions.A comprehensive retinoblastoma genetics workshop can increase the knowledge and skills necessary for effective retinoblastoma genetic counseling.
... eye muscles (external ophthalmoplegia), difficulty chewing or swallowing (dysphagia), and slurred speech. Affected individuals may also experience ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...
... impair vision; problems with speech (dysarthria); difficulty swallowing (dysphagia); and, in later stages of the condition, an ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...
Kumar, Vanita; Herbitter, Cara; Karasz, Alison; Gold, Marji
The Residency Review Committee requires that family medicine residents learn options counseling for women with unintended pregnancies. This qualitative study identifies important domains for future formal evaluations of pregnancy options counseling by exploring the relevant benefits reported by residents who underwent routine abortion training. To our knowledge, this is the first study of abortion training in family medicine to include an in-depth examination of its benefits in areas that may be important for pregnancy options counseling. Residents from two urban family medicine residency programs received training in first-trimester aspiration abortion at a high-volume abortion clinic during a routine women's health rotation. Thirty-minute semi-structured interviews were conducted with all 28 residents who rotated between July 2005 and November 2006. A coding scheme was developed and applied to transcripts for analysis. Through exposure to routine abortion training, residents reported improved knowledge, attitudes, and skills that are likely to be important for providing open and informed pregnancy options counseling. These include an understanding of the context of women's lives when they seek abortion care, familiarity with the procedure, and improved self-reported pregnancy options counseling skills. Our findings suggest that exposure to abortion training benefits residents in areas that may be important for providing effective pregnancy options counseling. In addition, residents' reflections on their involvement with patients during the abortion process highlight key domains for future formal evaluations of accurate and nonjudgmental options counseling for unintended pregnancy.
Thomsen, Simon F
Asthma runs in families, and children of asthmatic parents are at increased risk of asthma. Prediction of disease risk is pivotal for the clinician when counselling atopic families. However, this is not always an easy task bearing in mind the vast and ever-increasing knowledge about asthma genetics...... of methods and advances in asthma genetics in an attempt to help the clinician keep track of the most important knowledge in the field....
Honig, G.R.; Adams, J.G.
This book contains the following 10 chapters: Introduction; The Human Hemoglobins; The Human Globin Genes; Hemoglobin Synthesis and Globin Gene Expression; The Globin Gene Mutations - A. Mechanisms and Classification; The Globin Gene Mutations - B. Their Phenotypes and Clinical Expression; The Genetics of the Human Globin Gene Loci: Formal Genetics and Gene Linkage; The Geographic Distribution of Globin Gene Variation; Labortory Identification, Screening, Education, and Counseling for Abnormal Hemoglobins and Thalassemias; and Approaches to the Treatment of the Hemoglobin Disorders.
Full Text Available The role and mission of older people’s education are changing in today’s productivity- oriented, aging society, the learning society. Older people can be active only if they can join a social group and get involved in new, challenging activities. The Third-Age University of Ljubljana provides education and learning facilities and offers counseling services, developed within the Ljubljana Urban Region Lifelong Learning Project. Counseling for education and learning enables the elderly to get involved in various activities to put into practice the principles of lifelong learning and active aging.
Gladding, Samuel T.
In this book counseling approaches with a variety of populations are examined using these creative arts: music; dance/movement; imagery; visual arts; literature; drama; and play and humor. It is noted that all of these arts are process-oriented, emotionally sensitive, socially directed, and awareness-focused. Chapter 1 discusses the history,…
Worthington, Everett L., Jr.
Describes approach to marriage counseling based on cognitive behavioral therapy and structural and strategic marital therapies aimed at Christian couples. Uses shared Christian values between counselor and clients to promote increased marital commitment, marital satisfaction, and personal spiritual growth. Maintains marital satisfaction might be…