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Sample records for accurate genetic counseling

  1. Genetic information, non-discrimination, and privacy protections in genetic counseling practice.

    Science.gov (United States)

    Prince, Anya E R; Roche, Myra I

    2014-12-01

    The passage of the Genetic Information Non Discrimination Act (GINA) was hailed as a pivotal achievement that was expected to calm the fears of both patients and research participants about the potential misuse of genetic information. However, 6 years later, patient and provider awareness of legal protections at both the federal and state level remains discouragingly low, thereby, limiting their potential effectiveness. The increasing demand for genetic testing will expand the number of individuals and families who could benefit from obtaining accurate information about the privacy and anti-discriminatory protections that GINA and other laws extend. In this paper we describe legal protections that are applicable to individuals seeking genetic counseling, review the literature on patient and provider fears of genetic discrimination and examine their awareness and understandings of existing laws, and summarize how genetic counselors currently discuss genetic discrimination. We then present three genetic counseling cases to illustrate issues of genetic discrimination and provide relevant information on applicable legal protections. Genetic counselors have an unprecedented opportunity, as well as the professional responsibility, to disseminate accurate knowledge about existing legal protections to their patients. They can strengthen their effectiveness in this role by achieving a greater knowledge of current protections including being able to identify specific steps that can help protect genetic information.

  2. Prenatal Genetic Counseling (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's in ... can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...

  3. Teaching Genetic Counseling Skills: Incorporating a Genetic Counseling Adaptation Continuum Model to Address Psychosocial Complexity.

    Science.gov (United States)

    Shugar, Andrea

    2017-04-01

    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.

  4. A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor's Perspective.

    Science.gov (United States)

    Burgess, Kelly R; Carmany, Erin P; Trepanier, Angela M

    2016-02-01

    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.

  5. Adults' perceptions of genetic counseling and genetic testing.

    Science.gov (United States)

    Houfek, Julia Fisco; Soltis-Vaughan, Brigette S; Atwood, Jan R; Reiser, Gwendolyn M; Schaefer, G Bradley

    2015-02-01

    This study described the perceptions of genetic counseling and testing of adults (N = 116) attending a genetic education program. Understanding perceptions of genetic counseling, including the importance of counseling topics, will contribute to patient-focused care as clinical genetic applications for common, complex disorders evolve. Participants completed a survey addressing: the importance of genetic counseling topics, benefits and negative effects of genetic testing, and sharing test results. Topics addressing practical information about genetic conditions were rated most important; topics involving conceptual genetic/genomic principles were rated least important. The most frequently identified benefit and negative effect of testing were prevention/early detection/treatment and psychological distress. Participants perceived that they were more likely to share test results with first-degree than other relatives. Findings suggest providing patients with practical information about genetic testing and genetic contributions to disease, while also determining whether their self-care abilities would be enhanced by teaching genetic/genomic principles. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Women’s Satisfaction with Genetic Counseling for Hereditary Breast-Ovarian Cancer: Psychological Aspects

    OpenAIRE

    Tercyak, Kenneth P.; DeMarco, Tiffani A.; Mars, Bryn D.; Peshkin, Beth N.

    2004-01-01

    Women who participate in BRCA1/2 cancer genetic counseling do so for a variety of reasons, including learning quantitative risk information about their chances of developing hereditary breast-ovarian cancer at some point during their lifetimes. For these women, obtaining pre-test and disclosure genetic counseling with a professional affords them numerous potential benefits, including adequate preparation for, and accurate interpretation of, their test results. In consequence, women commonly r...

  7. Risk perception after genetic counseling in patients with increased risk of cancer

    Directory of Open Access Journals (Sweden)

    Rantala Johanna

    2009-08-01

    population. Difference in risk perception for children/siblings as for the general population was significant between the first and second measurement time points. Anxiety about developing cancer again among affected participants continued to be high throughout this investigation. Conclusion The participant's accuracy in risk perception was poor, especially in low risk individuals before genetic counseling. There was a general trend towards more accurate estimation in all risk groups after genetic counseling. The importance of preventive programs was well understood. Cancer anxiety was prevalent and associated with risk perception, but decreased after genetic counseling. 1 National Society of Genetic Counselors (2005, Genetic Counseling as a Profession. Available at http://www.nsgc.org/about/definition.cfm (accessed November 25th 2007 2 Julian-Reynier C., Welkenhuysen M-, Hagoel L., Decruyenaere M., Hopwood P. (2003 Risk communication strategies: state of the art and effectiveness in the context of cancer genetic services. Eur J of Human Genetics 11, 725–736.

  8. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

    ... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Jan 19,2018 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

  9. Employability of genetic counselors with a PhD in genetic counseling.

    Science.gov (United States)

    Wallace, Jody P; Myers, Melanie F; Huether, Carl A; Bedard, Angela C; Warren, Nancy Steinberg

    2008-06-01

    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.

  10. Genetic counseling and testing for gynecological cancers ...

    African Journals Online (AJOL)

    undergraduates of universities in Ibadan to genetic counseling and testing (GCT) for ... questionnaire, information on their understanding of GCT, perception of implications, and ... by genetic counseling from suitably trained health-care providers and genetic testing of selected high-risk individuals ..... Multiple sexual partners.

  11. Genetic counseling and the ethical issues around direct to consumer genetic testing.

    Science.gov (United States)

    Hawkins, Alice K; Ho, Anita

    2012-06-01

    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.

  12. Prenatal genetic counselling: issues and perspectives for pre-conceptional health care in Emilia Romagna (Northern Italy

    Directory of Open Access Journals (Sweden)

    Marco Lucci

    2013-10-01

    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.

  13. A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report.

    Science.gov (United States)

    Resta, Robert; Biesecker, Barbara Bowles; Bennett, Robin L; Blum, Sandra; Hahn, Susan Estabrooks; Strecker, Michelle N; Williams, Janet L

    2006-04-01

    The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors: Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition. The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.

  14. Disability training in the genetic counseling curricula: bridging the gap between genetic counselors and the disability community.

    Science.gov (United States)

    Sanborn, Erica; Patterson, Annette R

    2014-08-01

    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.

  15. A case report of truncus arteriosus communis and genetic counseling

    Directory of Open Access Journals (Sweden)

    Gholamreza Nourzad

    2013-06-01

    Full Text Available BACKGROUND: Truncus arteriosus communis (TAC is a rare heart disorder with the prevalence of approximately 1%, mostly in male newborns. In this disease, aorta and pulmonary artery have not been separated during fetus development and both originate jointly from left ventricle. In addition, various disorders are reported like ventricular septal defect (VSD, mitral and tricuspid valves defects, aortic septal defect (ASD, reduction of lung and lung vessels’ resistance, pulmonary hypertension, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot. CASR REPORT: Parents of deceased patient were referred for genetic counseling after the death of third girl due to severe cardiac disorder. Cardiologist declared the disease in deceased girl as TAC based on findings along with VSD, ASD and hypoplastic aortic arch which resulted to death in the first day of birth. CONCLUSION: There was no chromosomal disorder in chromosome analysis of patient’ skin. Parents were interested to have another child, so they were referred to university's Genetic Counseling Center to become aware of their next child’s condition. This disorder is genetically heterogeneous and multifactorial and because all external factors are not recognized, the accurate estimation of risk is not possible and the probability of risk for the next child is about 10% to 20%.   Keywords: Heart Disorder, Truncus Arteriosus Communis, Genetic Counseling 

  16. Non-syndromic sensorineural prelingual deafness: the importance of genetic counseling in demystifying parents' beliefs about the cause of their children's deafness.

    Science.gov (United States)

    Rodrigues, Fidjy; Paneque, Milena; Reis, Cláudia; Venâncio, Margarida; Sequeiros, Jorge; Saraiva, Jorge

    2013-08-01

    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.

  17. A Rapid Systematic Review of Outcomes Studies in Genetic Counseling.

    Science.gov (United States)

    Madlensky, Lisa; Trepanier, Angela M; Cragun, Deborah; Lerner, Barbara; Shannon, Kristen M; Zierhut, Heather

    2017-06-01

    As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outcomes could be assessed independently of genetic testing outcomes, and 3) genetic counseling was conducted by masters-level genetic counselors, or non-physician providers. Twenty-three papers met the inclusion criteria. The majority of studies were in the cancer genetic setting and the most commonly measured outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict. However, further studies are needed to evaluate a wider array of outcomes in more diverse genetic counseling settings.

  18. Genetic Counseling: MedlinePlus Health Topic

    Science.gov (United States)

    ... Craniosynostosis as a clinical and diagnostic problem: molecular pathology and... Article: GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital ... March of Dimes Birth Defects Foundation Also in Spanish ...

  19. Personalized Genetic Risk Counseling to Motivate Diabetes Prevention

    OpenAIRE

    Grant, Richard W.; O’Brien, Kelsey E.; Waxler, Jessica L.; Vassy, Jason L.; Delahanty, Linda M.; Bissett, Laurie G.; Green, Robert C.; Stember, Katherine G.; Guiducci, Candace; Park, Elyse R.; Florez, Jose C.; Meigs, James B.

    2012-01-01

    OBJECTIVE To examine whether diabetes genetic risk testing and counseling can improve diabetes prevention behaviors. RESEARCH DESIGN AND METHODS We conducted a randomized trial of diabetes genetic risk counseling among overweight patients at increased phenotypic risk for type 2 diabetes. Participants were randomly allocated to genetic testing versus no testing. Genetic risk was calculated by summing 36 single nucleotide polymorphisms associated with type 2 diabetes. Participants in the top an...

  20. [The emphases and basic procedures of genetic counseling in psychotherapeutic model].

    Science.gov (United States)

    Zhang, Yuan-Zhi; Zhong, Nanbert

    2006-11-01

    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.

  1. Genetic and family counselling for schizophrenia: Where do we ...

    African Journals Online (AJOL)

    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 ...

  2. Presymptomatic ALS genetic counseling and testing: Experience and recommendations.

    Science.gov (United States)

    Benatar, Michael; Stanislaw, Christine; Reyes, Eliana; Hussain, Sumaira; Cooley, Anne; Fernandez, Maria Catalina; Dauphin, Danielle D; Michon, Sara-Claude; Andersen, Peter M; Wuu, Joanne

    2016-06-14

    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. © 2016 American Academy of Neurology.

  3. [Prenatal genetic counseling and instruction for deaf families by genetic test].

    Science.gov (United States)

    Han, Ming-yu; Huang, Sha-sha; Wang, Guo-jian; Yuan, Yong-yi; Kang, Dong-yang; Zhang, Xin; Dai, Pu

    2011-11-01

    Analyzed the molecular pathogenesis of probands by means of genetic test and assisted the local Family Planning Institute by providing prenatal genetic counseling and instruction for deaf families who eager to have more baby. Total of forty-three deaf families were recruited by two institutes for family planning from Guangzhou and Weifang. Forty-two families had one deaf child with normal hearing parents. One family was that parents and their child were all deaf. Genetic testing of GJB2, SLC26A4 and mitochondrial DNA (mtDNA) 12SrRNA were firstly performed in probands and their parents, following medical history, physical examination, auditory test and CT scan of temporal bone were completed. And then the genetic information and instruction were provided to each deaf family. Fifteen of these 43 families had positive results of genetic test. In fifteen families, one family was confirmed that the parents and their child all carried homozygous GJB2 mutations and the recurrence risk was 100%. Twelve families were confirmed that the probands carried homozygous/compound GJB2 or SLC26A4 mutations while their parents were GJB2 or SLC26A4 carriers, and the recurrence risk was 25%. One family was confirmed that the proband, diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan, carried heterozygous SLC26A4 mutation from the mother, and the recurrence risk was still 25% based on the hereditary pattern of EVAS although another SLC26A4 mutation from the father was not found. One family was confirmed that the proband carried a heterozygous GJB2 mutation from the mother and the possibility to be GJB2 carrier for offsprings was 50%. The rest 28 families were that all probands and their parents did not carry GJB2, SLC26A4 and mtDNA 12SrRNA pathological mutation. Genetic testing can provide more accurate and useful prenatal genetic counseling and instruction to deaf families. Meanwhile, it is an ideal way to develop a cooperative relationship with the institute for

  4. Genetic Counseling and Evaluation for BRCA1/2 Testing

    Science.gov (United States)

    ... Options Talking to Family Family Stories Diseases Genetic Counseling for Hereditary Breast and Ovarian Cancer Recommend on ... mutation, your doctor may refer you for genetic counseling. Understanding and dealing with a strong family health ...

  5. Respecting autonomous decision making among Filipinos: a re-emphasis in genetic counseling.

    Science.gov (United States)

    Cura, Jonathan Diego

    2015-04-01

    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.

  6. Pre-marital genetic counselling to consanguineous couples: attitudes, beliefs and decisions among counselled, noncounselled and unrelated couples in Israel.

    Science.gov (United States)

    Shiloh, S; Reznik, H; Bat-Miriam-Katznelson, M; Goldman, B

    1995-11-01

    Semi-structured interviews were conducted with 65 Israeli subjects who received genetic counselling while considering marriage to a close relative, 40 subjects married to a close relative who did not receive pre-marital genetic counselling, and 125 controls married to a nonrelative and never having considered marrying a relative. It was found that 72% of the consanguineous couples who received pre-marital genetic counselling proceeded with their plans and married their relative; 86% of them reported that the counselling influenced their final decision to some degree. Counsellees' appraisals of genetic counselling revealed unfulfilled expectations to obtain more definitive answers, and mixed reactions to the nondirective approach applied by the counsellors. Comparisons between consanguineous and control couples revealed different views about consanguinity in general, and genetic risks in particular. Consanguineous couples, unlike controls, perceived consanguinity as an ordinary form of marriage, and had more favorable attitudes towards it. Compared to the noncounselled consanguineous group, consanguineous couples who received pre-marital genetic counselling had fewer children, estimated their genetic risk as lower but its subjective significance as higher, and perceived genetic disorders as more severe. The implications of these results are discussed from both theoretical and practical standpoints.

  7. Frequently Asked Questions about Genetic Counseling

    Science.gov (United States)

    ... a decision about testing. Interpret the results of genetic tests and medical data. Provide counseling or refer individuals and families to support services. Serve as patient advocates. Explain possible treatments or preventive ... What is a genetic consultation? [ghr.nlm.nih.gov] Top of page ...

  8. Uptake of genetic counselling services by patients with cystic fibrosis ...

    African Journals Online (AJOL)

    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 ...

  9. Level of awareness of genetic counselling in Lagos, Nigeria: its ...

    African Journals Online (AJOL)

    Level of awareness of genetic counselling in Lagos, Nigeria: its advocacy on the inheritance of sickle cell disease. ... and the level of awareness about genetic counseling in 30 hospitals were carried out. ... AJOL African Journals Online.

  10. Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing.

    Science.gov (United States)

    Schmidlen, Tara; Sturm, Amy C; Hovick, Shelly; Scheinfeldt, Laura; Scott Roberts, J; Morr, Lindsey; McElroy, Joseph; Toland, Amanda E; Christman, Michael; O'Daniel, Julianne M; Gordon, Erynn S; Bernhardt, Barbara A; Ormond, Kelly E; Sweet, Kevin

    2018-02-19

    With the advent of widespread genomic testing for diagnostic indications and disease risk assessment, there is increased need to optimize genetic counseling services to support the scalable delivery of precision medicine. Here, we describe how we operationalized the reciprocal engagement model of genetic counseling practice to develop a framework of counseling components and strategies for the delivery of genomic results. This framework was constructed based upon qualitative research with patients receiving genomic counseling following online receipt of potentially actionable complex disease and pharmacogenomics reports. Consultation with a transdisciplinary group of investigators, including practicing genetic counselors, was sought to ensure broad scope and applicability of these strategies for use with any large-scale genomic testing effort. We preserve the provision of pre-test education and informed consent as established in Mendelian/single-gene disease genetic counseling practice. Following receipt of genomic results, patients are afforded the opportunity to tailor the counseling agenda by selecting the specific test results they wish to discuss, specifying questions for discussion, and indicating their preference for counseling modality. The genetic counselor uses these patient preferences to set the genomic counseling session and to personalize result communication and risk reduction recommendations. Tailored visual aids and result summary reports divide areas of risk (genetic variant, family history, lifestyle) for each disease to facilitate discussion of multiple disease risks. Post-counseling, session summary reports are actively routed to both the patient and their physician team to encourage review and follow-up. Given the breadth of genomic information potentially resulting from genomic testing, this framework is put forth as a starting point to meet the need for scalable genetic counseling services in the delivery of precision medicine.

  11. The Emergence of Genetic Counseling in Sweden: Examples from Eugenics and Medical Genetics.

    Science.gov (United States)

    Björkman, Maria

    2015-09-01

    This paper examines the intertwined relations between eugenics and medical genetics from a Swedish perspective in the 1940s and 1950s. The Swedish case shows that a rudimentary form of genetic counseling emerged within eugenic practices in the applications of the Swedish Sterilization Act of 1941, here analyzed from the phenomenon of "heredophobia" (ärftlighetsskräck). At the same time genetic counseling also existed outside eugenic practices, within the discipline of medical genetics. The paper argues that a demand for genetic counseling increased in the 1940s and 1950s in response to a sense of reproductive responsibility engendered by earlier eugenic discourse. The paper also questions the claim made by theoreticians of biopolitics that biological citizens have emerged only during the last decades, especially in neoliberal societies. From the Swedish case it is possible to argue that this had already happened earlier in relation to the proliferation of various aspects of eugenics to the public.

  12. The impact of genetic counselling on risk perception and mental health in women with a family history of breast cancer.

    Science.gov (United States)

    Watson, M; Lloyd, S; Davidson, J; Meyer, L; Eeles, R; Ebbs, S; Murday, V

    1999-02-01

    The present study investigated: (1) perception of genetic risk and, (2) the psychological effects of genetic counselling in women with a family history of breast cancer. Using a prospective design, with assessment pre- and post-genetic counselling at clinics and by postal follow-up at 1, 6 and 12 months, attenders at four South London genetic clinics were assessed. Participants included 282 women with a family history of breast cancer. Outcome was measured in terms of mental health, cancer-specific distress and risk perception. High levels of cancer-specific distress were found pre-genetic counselling, with 28% of participants reporting that they worried about breast cancer 'frequently or constantly' and 18% that worry about breast cancer was 'a severe or definite problem'. Following genetic counselling, levels of cancer-specific distress were unchanged. General mental health remained unchanged over time (33% psychiatric cases detected pre-genetic counselling, 27% at 12 months after genetic counselling). Prior to their genetics consultation, participants showed poor knowledge of their lifetime risk of breast cancer since there was no association between their perceived lifetime risk (when they were asked to express this as a 1 in x odds ratio) and their actual risk, when the latter was calculated by the geneticist at the clinic using the CASH model. In contrast, women were more accurate about their risk of breast cancer pre-genetic counselling when this was assessed in broad categorical terms (i.e. very much lower/very much higher than the average woman) with a significant association between this rating and the subsequently calculated CASH risk figure (P = 0.001). Genetic counselling produced a modest shift in the accuracy of perceived lifetime risk, expressed as an odds ratio, which was maintained at 12 months' follow-up. A significant minority failed to benefit from genetic counselling; 77 women continued to over-estimate their risk and maintain high levels of

  13. The practice of genetic counselling: a Ccmparative approach to understanding genetic counselling in China

    NARCIS (Netherlands)

    Suli, S.

    2009-01-01

    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.

  14. [A survey of willingness about genetic counseling and tests in patients of epithelial ovarian cancer].

    Science.gov (United States)

    Li, L; Qiu, L; Wu, M

    2017-11-21

    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.

  15. Formulation of Genetic Counseling Format for Adult Bangladeshi Patients with Acute Myeloid Leukemia

    Directory of Open Access Journals (Sweden)

    M. Z. Rahman

    2018-01-01

    Full Text Available With the advancement of medical genetics, particular emphasis is given on the genetic counseling worldwide. In Bangladesh, genetic counseling services are not yet developed. Acute myeloid leukemia (AML is a malignant disease of the myeloid cells of bone marrow. Like other malignant diseases, it may result from a mutation in the DNA. A genetic counseling format will educate the AML patients and provide appropriate medical and emotional support. The aim of this descriptive cross-sectional study was to develop a genetic counseling format for adult Bangladeshi patients with AML. Taking this into account, a draft format was prepared by reviewing relevant documents available online which was later analyzed by an expert panel through a group discussion and thus a proposed format was developed. To make the format effective in the perspective of Bangladeshi population, the proposed format was applied in counseling, and thus a final format was developed in the English language. This format will educate the counselors, clinicians, and patients about the utility and importance of the genetic counseling and genetic tests. Also, the patients feel comfort regarding the whole counseling process and going for postcounseling treatments and advice. Though it is written in English, it may be translated into mother tongue for better communication during counseling.

  16. Formulation of Genetic Counseling Format for Adult Bangladeshi Patients with Acute Myeloid Leukemia.

    Science.gov (United States)

    Rahman, M Z; Nishat, L; Yesmin, Z A; Banu, L A

    2018-01-01

    With the advancement of medical genetics, particular emphasis is given on the genetic counseling worldwide. In Bangladesh, genetic counseling services are not yet developed. Acute myeloid leukemia (AML) is a malignant disease of the myeloid cells of bone marrow. Like other malignant diseases, it may result from a mutation in the DNA. A genetic counseling format will educate the AML patients and provide appropriate medical and emotional support. The aim of this descriptive cross-sectional study was to develop a genetic counseling format for adult Bangladeshi patients with AML. Taking this into account, a draft format was prepared by reviewing relevant documents available online which was later analyzed by an expert panel through a group discussion and thus a proposed format was developed. To make the format effective in the perspective of Bangladeshi population, the proposed format was applied in counseling, and thus a final format was developed in the English language. This format will educate the counselors, clinicians, and patients about the utility and importance of the genetic counseling and genetic tests. Also, the patients feel comfort regarding the whole counseling process and going for postcounseling treatments and advice. Though it is written in English, it may be translated into mother tongue for better communication during counseling.

  17. Alternate service delivery models in cancer genetic counseling: a mini-review

    Directory of Open Access Journals (Sweden)

    Adam Hudson Buchanan

    2016-05-01

    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.

  18. African American women's limited knowledge and experiences with genetic counseling for hereditary breast cancer.

    Science.gov (United States)

    Sheppard, Vanessa B; Graves, Kristi D; Christopher, Juleen; Hurtado-de-Mendoza, Alejandra; Talley, Costellia; Williams, Karen Patricia

    2014-06-01

    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.

  19. Interactive genetic counseling role-play: a novel educational strategy for family physicians.

    Science.gov (United States)

    Blaine, Sean M; Carroll, June C; Rideout, Andrea L; Glendon, Gord; Meschino, Wendy; Shuman, Cheryl; Telner, Deanna; Van Iderstine, Natasha; Permaul, Joanne

    2008-04-01

    Family physicians (FPs) are increasingly involved in delivering genetic services. Familiarization with aspects of genetic counseling may enable FPs to help patients make informed choices. Exploration of interactive role-play as a means to raise FPs' awareness of the process and content of genetic counseling. FPs attending two large Canadian family medicine conferences in 2005 were eligible -- 93 participated. FPs discussed a case during a one-on-one session with a genetic counselor. Evaluation involved pre and post intervention questionnaires FPs' baseline genetic knowledge was self-rated as uniformly poor. Baseline confidence was highest in eliciting family history and providing psychosocial support and lowest in discussing risks/benefits of genetic testing and counseling process. Post-intervention, 80% of FPs had better appreciation of family history and 97% indicated this was an effective learning experience. Role-play with FPs is effective in raising awareness of the process and content of genetic counseling and may be applied to other health disciplines.

  20. Personalized Genetic Risk Counseling to Motivate Diabetes Prevention: A randomized trial

    OpenAIRE

    Grant, Richard W.; O’Brien, Kelsey E.; Waxler, Jessica L.; Vassy, Jason L.; Delahanty, Linda M.; Bissett, Laurie G.; Green, Robert C.; Stember, Katherine G.; Guiducci, Candace; Park, Elyse R.; Florez, Jose C.; Meigs, James B.

    2013-01-01

    OBJECTIVE To examine whether diabetes genetic risk testing and counseling can improve diabetes prevention behaviors. RESEARCH DESIGN AND METHODS We conducted a randomized trial of diabetes genetic risk counseling among overweight patients at increased phenotypic risk for type 2 diabetes. Participants were randomly allocated to genetic testing versus no testing. Genetic risk was calculated by summing 36 single nucleotide polymorphisms associated with type 2 diabetes. Participants in the top an...

  1. Genetic Counseling, Professional Values, and Habitus: An Analysis of Disability Narratives in Textbooks.

    Science.gov (United States)

    Reed, Amy R

    2016-10-19

    This article analyzes narrative illustrations in genetic counseling textbooks as a way of understanding professional habitus--the dispositions that motivate professional behavior. In particular, this analysis shows that there are significant differences in how the textbooks' expository and narrative portions represent Down syndrome, genetic counseling practice, and patient behaviors. While the narrative portions of the text position the genetic counseling profession as working in service to the values of genetic medicine, the expository portions represent genetic counselors as neutral parties. Ultimately, this article argues that this ambiguity is harmful to the production of a professional habitus that is consistent with espoused professional values concerning respect for persons with disabilities and the promotion of psychosocial counseling.

  2. Response to A Different Vantage Point Commentary: Psychotherapeutic Genetic Counseling, Is it?

    Science.gov (United States)

    Austin, Jehannine; Caleshu, Colleen

    2016-01-01

    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

  3. Prevalence and detection of psychosocial problems in cancer genetic counseling.

    Science.gov (United States)

    Eijzenga, W; Bleiker, E M A; Hahn, D E E; Van der Kolk, L E; Sidharta, G N; Aaronson, N K

    2015-12-01

    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.

  4. Social and cultural issues in genetic counselling

    Indian Academy of Sciences (India)

    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 ...

  5. Genetic Counseling Supervisors' Self-Efficacy for Select Clinical Supervision Competencies.

    Science.gov (United States)

    Finley, Sabra Ledare; Veach, Pat McCarthy; MacFarlane, Ian M; LeRoy, Bonnie S; Callanan, Nancy

    2016-04-01

    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.

  6. Own experiences in genetic counselling of radiation exposed persons

    International Nuclear Information System (INIS)

    Laude, G.; Bruening, L.

    1995-01-01

    An outline is given of genetic counselling provided to 46 radiation-exposed persons during the period from 1978 to 1994. The radiation exposure had, in most cases, been due to radiation-therapeutic measures (n=22). To a low extent, counselling was carried out because of fear of genetic consequences of the Chernobyl reactor accident (n=11), preceding radiation exposure from X-ray (n=9) and nuclear diagnosis (n=1) as well as occupation radiation exposure (n=3). During counselling, information was given on the genetic risk to be expected, taking into consideration the risk factor that is valid at present and the malformation doubling dose. After performance of radiation therapy, an avoidance of conception for 2 years has been recommended. After termination of this period, in the case of an urgent wish of having children, pregnancy was not discouraged if no further risk factors existed. (orig.) [de

  7. Ethical issues in genetic counselling with special reference to haemoglobinopathies.

    Science.gov (United States)

    Muthuswamy, Vasantha

    2011-10-01

    Genetic counselling is provided in places where genetic tests are carried out. The process involves pre-test counselling as well as post-test counselling to enable the individuals to face the situation and take appropriate decisions with the right frame of mind. Major ethical principles which govern the attitudes and actions of counsellors include: respect for patient autonomy, non-maleficence, beneficence, or taking action to help benefit others and prevent harm, both physical and mental, and justice, which requires that services be distributed fairly to those in need. Other moral issues include veracity, the duty to disclose information or to be truthful, and respect for patient confidentiality. Nondirective counselling, a hallmark of this profession, is in accordance with the principle of individual autonomy. High prevalence of haemoglobinopathies with availability of good and sensitive carrier detection tests and prenatal diagnostic techniques makes these good candidates for population screening of carriers along with genetic counselling for primary prevention of the disease. Screening of the extended family members of the affected child, high risk communities and general population screening including antenatal women are the main target groups for planning a Haemoglobinopathy control programme. A critical mass of trained genetic counsellors who have understanding of the ethical issues and its appropriate handling with the required sensitivity is needed in India.

  8. Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine.

    Science.gov (United States)

    Austin, Jehannine; Semaka, Alicia; Hadjipavlou, George

    2014-12-01

    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.

  9. African American Women’s Limited Knowledge and Experiences with Genetic Counseling for Hereditary Breast Cancer

    Science.gov (United States)

    Sheppard, Vanessa B.; Graves, Kristi D.; Christopher, Juleen; Hurtado-de-Mendoza, Alejandra; Talley, Costellia; Williams, Karen Patricia

    2014-01-01

    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

  10. Translation and adaption of the Genetic Counseling Outcome Scale (GCOS-24) to Danish

    DEFF Research Database (Denmark)

    Diness, Birgitte Rode; Overbeck, Gritt; Duelund, T.

    2013-01-01

    Background and aim: The ability to measure patient outcomes from genetic counselling is a prerequisite for evidencebased development of practice. The Genetic Counselling Outcome Scale (GCOS-24) is a recently developed patient reported outcome measure. The aim of this project was to develop a Danish...... perception of genetic counseling and genetic conditions and led to adjustments of the original translation, leading to development of a tool better-suited to the target population. We would recommend the described approach when attempting translation of patient reported outcome measures...

  11. Response to A Different Vantage Point Commentary: Psychotherapeutic Genetic Counseling, Is it?

    Science.gov (United States)

    Biesecker, Barbara; Austin, Jehannine; Caleshu, Colleen

    2017-04-01

    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.

  12. Risk perception among women receiving genetic counseling: a population-based follow-up study

    DEFF Research Database (Denmark)

    Mikkelsen, Ellen M; Sunde, Lone; Johansen, Christoffer

    2007-01-01

    -up study of 213 women who received genetic counseling for hereditary breast and ovarian cancer, 319 women who underwent mammography (Reference Group I), and a random sample of 1070 women from the general population (Reference Group II). RESULTS: Women who received genetic counseling decreased...... 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......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...

  13. Follow-up effects of a tailored pre-counseling website with question prompt in breast cancer genetic counseling

    NARCIS (Netherlands)

    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

  14. Follow-up effects of a tailored pre-counseling website with question prompt in breast cancer genetic counseling.

    NARCIS (Netherlands)

    Albada, A.; Dulmen, S. van; Spreeuwenberg, P.; Ausems, M.G.E.M.

    2015-01-01

    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

  15. Colorectal Cancer in the Family: Psychosocial Distress and Social Issues in the Years Following Genetic Counselling

    Directory of Open Access Journals (Sweden)

    Bleiker Eveline MA

    2007-06-01

    Full Text Available Abstract Background This study examined: (1 levels of cancer-specific distress more than one year after genetic counselling for hereditary nonpolyposis colorectal cancer (HNPCC; (2 associations between sociodemographic, clinical and psychosocial factors and levels of distress; (3 the impact of genetic counselling on family relationships, and (4 social consequences of genetic counselling. Methods In this cross-sectional study, individuals who had received genetic counselling for HNPCC during 1986–1998 completed a self-report questionnaire by mail. Results 116 individuals (81% response rate completed the questionnaire, on average 4 years after the last counselling session. Of all respondents, 6% had clinically significant levels of cancer-specific distress (Impact of Event Scale, IES. Having had contact with a professional psychosocial worker for cancer risk in the past 10 years was significantly associated with higher levels of current cancer specific distress. Only a minority of the counselees reported any adverse effects of genetic counselling on: communication about genetic counselling with their children (9%, family relationships (5%, obtaining life insurance (8%, choice or change of jobs (2%, and obtaining a mortgage (2%. Conclusion On average, four years after genetic counselling for HNPCC, only a small minority of counselled individuals reports clinically significant levels of distress, or significant family or social problems.

  16. BRCA genetic counseling among at-risk Latinas in New York City: new beliefs shape new generation.

    Science.gov (United States)

    Sussner, Katarina M; Edwards, Tiffany; Villagra, Cristina; Rodriguez, M Carina; Thompson, Hayley S; Jandorf, Lina; Valdimarsdottir, Heiddis B

    2015-02-01

    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.

  17. The genomic era and serious mental illness: a potential application for psychiatric genetic counseling.

    Science.gov (United States)

    Austin, Jehannine C; Honer, William G

    2007-02-01

    Genetic counseling is an important clinical service that is routinely offered to families affected by genetic disorders or by complex disorders for which genetic testing is available. It is not yet routinely offered to individuals with serious mental illnesses and their families, but recent findings that beliefs about the cause of mental illness can affect an individual's adaptation to the illness suggest that genetic counseling may be a useful intervention for this population. In a genetic counseling session the counselor discusses genetic and environmental contributors to disease pathogenesis; helps individuals explore conceptions, fears, and adaptive strategies; and provides nondirective support for decision making. Expected outcomes may include reductions in fear, stigma, and guilt associated with a psychiatric diagnosis; improvements in adherence to prescribed medications; declines in risk behaviors; and reductions in misconceptions about the illness. The authors endorse a multidisciplinary approach in which a psychiatrist and genetic counselor collaborate to provide comprehensive psychiatric genetic counseling.

  18. Standards for the Reporting of Genetic Counseling Interventions in Research and Other Studies (GCIRS): an NSGC Task Force Report.

    Science.gov (United States)

    Hooker, Gillian W; Babu, D; Myers, M F; Zierhut, H; McAllister, M

    2017-06-01

    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.

  19. Role of genetic counselling in prenatal diagnosis of beta-thalassaemia in pakistan

    International Nuclear Information System (INIS)

    Bozdar, M.; Hanif, T.B.

    2013-01-01

    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)

  20. Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark

    DEFF Research Database (Denmark)

    Diness, Birgitte Rode; Overbeck, Gritt; Hjortshøj, Tina Duelund

    2017-01-01

    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...

  1. Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening.

    Science.gov (United States)

    Besser, Andria G; Mounts, Emily L

    2017-04-01

    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.

  2. Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market

    NARCIS (Netherlands)

    Harris, A.; Kelly, S.; Wyatt, S.

    2013-01-01

    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

  3. Genetic counseling for schizophrenia: a review of referrals to a provincial medical genetics program from 1968–2007

    Science.gov (United States)

    Hunter, MJ; Hippman, Catriona; Honer, William G; Austin, Jehannine C.

    2014-01-01

    Purpose Recent studies have shown that individuals with schizophrenia and their family members are interested in genetic counseling, but few have received this service. We conducted an exploratory, retrospective study to describe (a) the population of individuals who were referred to the provincial program for genetic counseling for a primary indication of schizophrenia, and (b) trends in number of referrals between 1968 and 2007. Methods Referrals for a primary indication of schizophrenia were identified through the provincial program database. Charts were reviewed and the following information was recorded: discipline of referring physician, demographics, psychiatric diagnosis, referred individual’s and partner’s (if applicable) family history, and any current pregnancy history. Data were characterized using descriptive statistics. Results Between 1968 and 2007, 288 referrals were made for a primary indication of schizophrenia. Most referrals were made: (a) for individuals who had a first-degree family member with schizophrenia, rather than for affected individuals, (b) for preconception counseling, and (c) by family physicians (69%), with only 2% by psychiatrists. Conclusions In British Columbia, individuals affected with schizophrenia and their family members are rarely referred for psychiatric genetic counseling. There is a need to identify barriers to psychiatric genetic counseling and develop strategies to improve access. PMID:20034078

  4. Effectiveness of an online curriculum for medical students on genetics, genetic testing and counseling

    Directory of Open Access Journals (Sweden)

    Mary P. Metcalf

    2010-01-01

    Full Text Available Background: It is increasingly important that physicians have a thorough understanding of the basic science of human genetics and the ethical, legal and social implications (ELSI associated with genetic testing and counseling. Methods: The authors developed a series of web-based courses for medical students on these topics. The course modules are interactive, emphasize clinical case studies, and can easily be incorporated into existing medical school curricula. Results: Results of a ‘real world’ effectiveness trial indicate that the courses have a statistically significant effect on knowledge, attitude, intended behavior and self-efficacy related to genetic testing (p<0.001; N varies between 163 and 596 for each course. Conclusions: The results indicate that this curriculum is an effective tool for educating medical students on the ELSI associated with genetic testing and for promoting positive changes in students' confidence, counseling attitudes and behaviors.

  5. Report on an Investigation into an Entry Level Clinical Doctorate for the Genetic Counseling Profession and a Survey of the Association of Genetic Counseling Program Directors.

    Science.gov (United States)

    Reiser, Catherine; LeRoy, Bonnie; Grubs, Robin; Walton, Carol

    2015-10-01

    The master's degree is the required entry-level degree for the genetic counseling profession in the US and Canada. In 2012 the Association of Genetic Counseling Program Directors (AGCPD) passed resolutions supporting retention of the master's as the entry-level and terminal degree and opposing introduction of an entry-level clinical doctorate (CD) degree. An AGCPD workgroup surveyed directors of all 34 accredited training programs with the objective of providing the Genetic Counseling Advanced Degrees Task Force (GCADTF) with information regarding potential challenges if master's programs were required to transition to an entry-level CD. Program demographics, projected ability to transition to an entry-level CD, factors influencing ability to transition, and potential effects of transition on programs, students and the genetic counseling workforce were characterized. Two programs would definitely be able to transition, four programs would close, thirteen programs would be at risk to close and fourteen programs would probably be able to transition with varying degrees of difficulty. The most frequently cited limiting factors were economic, stress on clinical sites, and administrative approval of a new degree/program. Student enrollment under an entry-level CD model was projected to decrease by 26.2 %, negatively impacting the workforce pipeline. The results further illuminate and justify AGCPD's position to maintain the master's as the entry-level degree.

  6. International exchange training in genetic counseling: an exploration of the value in exchange experiences.

    Science.gov (United States)

    Alexander, Chelsea K A; Veach, Patricia McCarthy; Lian, Fengqin; LeRoy, Bonnie S

    2013-12-01

    International exchange training in genetic counseling is increasing, but research examining these experiences is lacking. In this study 309 genetic counseling students and genetic counselors completed an anonymous survey investigating six major research questions: (1) How prevalent are international genetic counseling experiences? (2) What types are pursued and why? (3) What supports and barriers exist? 3) What are the demographic characteristics of individuals accruing international experience? (5) Does international experience promote professional development? and (6) Do genetic counseling students and professionals perceive international experiences as beneficial? Most respondents were Caucasian females born in one of 25 countries. The most prevalent experiences involved either clinical observation or clinical training. Common motivations for pursuing international experience were personal growth, exposure to a different healthcare system, and travel opportunities. Outcomes included professionally-relevant experience and personal growth. Barriers included finances, limited availability of opportunities, and for those without international experience, family responsibilities. Additional findings, practice and training implications, and research recommendations are provided.

  7. Cancer Genetics Risk Assessment and Counseling (PDQ®)—Health Professional Version

    Science.gov (United States)

    Cancer genetics risk assessment and genetic counseling includes family history, psychosocial assessments, and education on hereditary cancer syndromes, testing, and risk. Get more information including the ethical, legal, and social implications of genetic testing in this summary for clinicians.

  8. [Views of Icelandic women towards genetic counseling - and testing of BRCA2 mutations].

    Science.gov (United States)

    Jonsdottir, Thordis; Valdimarsdottir, Heiddis; Tryggvadottir, Laufey; Lund, Sigrun Helga; Thordardottir, Marianna; Magnusson, Magnus Karl; Valdimarsdottir, Unnur

    2018-01-01

    Introduction The aim of this study was to explore the attitudes of Icelandic women towards existing genetic information, genetic counseling and genetic testing for BRCA mutations which dramatically increase risk for aggressive cancers. Materials and methods Women attending the cancer prevention clinic in Reykjavik, capital of Iceland, from October 12th until November 20th 2015 received an invitation to participate. Participation involved answering a short online questionnaire about background, family history of cancer as well as attitudes towards genetic counseling, BRCA testing and preventive use of such information. Descriptive statistics and chi-square tests were used to describe differences in attitudes towards those questions between subgroups of women. Results 1129 women (69% response rate) answered the questionnaire. Mean age was 47 years (span 21-76 years). Around half (47%) had heard fairly much about the mutations. Independent of family history of cancer, the majority of women were positive towards receiving genetic counseling (79%) and to undergo genetic testing (83%) for BRCA mutation with younger women being more interested than older women. On the other hand, only 4% of the women had already received genetic counseling and 7% undergone genetic testing. Women with family history of cancer were more knowledgeable about BRCA mutations (pcounseling and testing for BRCA mutations although half of them worry that a positive result might affect their health insurance. Nevertheless, almost all women believe that existing genetic information should be used to inform carriers for preventive purposes.

  9. Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients.

    Science.gov (United States)

    Schwartz, Marc D; Peshkin, Beth N; Isaacs, Claudine; Willey, Shawna; Valdimarsdottir, Heiddis B; Nusbaum, Rachel; Hooker, Gillian; O'Neill, Suzanne; Jandorf, Lina; Kelly, Scott P; Heinzmann, Jessica; Zidell, Aliza; Khoury, Katia

    2018-04-02

    Breast cancer patients who carry BRCA1/BRCA2 gene mutations may consider bilateral mastectomy. Having bilateral mastectomy at the time of diagnosis not only reduces risk of a contralateral breast cancer, but can eliminate the need for radiation therapy and yield improved reconstruction options. However, most patients do not receive genetic counseling or testing at the time of their diagnosis. In this trial, we tested proactive rapid genetic counseling and testing (RGCT) in newly diagnosed breast cancer patients in order to facilitate pre-surgical genetic counseling and testing. We recruited newly diagnosed breast cancer patients at increased risk for carrying a BRCA1/2 mutation. Of 379 eligible patients who completed a baseline survey, 330 agreed to randomization in a 2:1 ratio to RGCT (n = 220) versus UC (n = 108). Primary outcomes were genetic counseling and testing uptake and breast cancer surgical decisions. RGCT led to higher overall (83.8% vs. 54.6%; p genetic counseling uptake compared to UC. Despite higher rates of genetic counseling, RGCT did not differ from UC in overall (54.1% vs. 49.1%, p > 0.10) or pre-surgical (30.6% vs. 27.4%, p > 0.10) receipt of genetic test results nor did they differ in uptake of bilateral mastectomy (26.6% vs. 21.8%, p > 0.10). Although RGCT yielded increased genetic counseling participation, this did not result in increased rates of pre-surgical genetic testing or impact surgical decisions. These data suggest that those patients most likely to opt for genetic testing at the time of diagnosis are being effectively identified by their surgeons.

  10. Breast Cancer in Men: Treatments and Genetic Counseling

    Science.gov (United States)

    ... Products For Consumers Home For Consumers Consumer Updates Breast Cancer in Men: Treatments and Genetic Counseling Share Tweet ... knowledge for others with this disease,” Prowell says. Breast Cancer Symptoms for Men Each year, about 2,000 ...

  11. Prevalence and detection of psychosocial problems in cancer genetic counseling

    NARCIS (Netherlands)

    Eijzenga, W.; Bleiker, E.M.A.; Hahn, D.E.E.; van der Kolk, L.E.; Sidharta, G.N.; Aaronson, N.K.

    2015-01-01

    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

  12. A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia.

    Science.gov (United States)

    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

    2018-02-01

    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.

  13. Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

    Science.gov (United States)

    Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Sinsheimer, Janet S.

    2014-01-01

    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

  14. Genetic counseling and cascade genetic testing in Lynch syndrome.

    Science.gov (United States)

    Hampel, Heather

    2016-07-01

    Lynch syndrome is the most common cause of inherited colorectal and endometrial cancers. Individuals with Lynch syndrome have a 10-80 % lifetime risk for colorectal cancer and a 15-60 % lifetime risk for endometrial cancer. Both cancers are preventable through chemoprevention, intensive cancer surveillance, and risk-reducing surgery options. Efforts to identify as many individuals with Lynch syndrome as possible will prevent cancers and save lives. This includes the traditional cancer genetic counseling model whereby individuals with and without cancer are evaluated for a possible Lynch syndrome diagnosis based on their personal and family history of colon polyps and cancers. It also includes universal tumor screening for Lynch syndrome whereby all individuals with colorectal or endometrial cancer are screened for tumor features of Lynch syndrome at the time of diagnosis. Those with tumors suspicious for Lynch syndrome are referred for cancer genetic counseling regardless of their family history of cancer. This two approaches must be maximized to attain high patient reach. Finally, and perhaps most importantly, cascade testing among the at-risk relatives of those diagnosed with Lynch syndrome is critically important to maximize the diagnosis of individuals with Lynch syndrome. In fact, the cost-effectiveness of universal tumor screening for Lynch syndrome relies entirely on counseling and testing as many at-risk individuals as possible since young unaffected individuals stand to benefit the most from an early diagnosis of Lynch syndrome. This approach must be optimized to achieve high family reach. It will take a concerted effort from patients, clinicians and public health officials to improve current approaches to the diagnosis of Lynch syndrome and the prevention and treatment of Lynch syndrome-associated cancer but these lessons can be applied to other conditions as the ultimate example of personalized medicine.

  15. The future is now: Technology's impact on the practice of genetic counseling.

    Science.gov (United States)

    Gordon, Erynn S; Babu, Deepti; Laney, Dawn A

    2018-03-01

    Smartphones, artificial intelligence, automation, digital communication, and other types of technology are playing an increasingly important role in our daily lives. It is no surprise that technology is also shaping the practice of medicine, and more specifically the practice of genetic counseling. While digital tools have been part of the practice of medical genetics for decades, such as internet- or CD-ROM-based tools like Online Mendelian Inheritance in Man and Pictures of Standard Syndromes and Undiagnosed Malformations in the 1980s, the potential for emerging tools to change how we practice and the way patients consume information is startling. Technology has the potential to aid in at-risk patient identification, assist in generating a differential diagnosis, improve efficiency in medical history collection and risk assessment, provide educational support for patients, and streamline follow-up. Here we review the historic and current uses of technology in genetic counseling, identify challenges to integration, and propose future applications of technology that can shape the practice of genetic counseling. © 2018 Wiley Periodicals, Inc.

  16. Does the diagnosis of breast or ovarian cancer trigger referral to genetic counseling?

    Science.gov (United States)

    Powell, C Bethan; Littell, Ramey; Hoodfar, Elizabeth; Sinclair, Fiona; Pressman, Alice

    2013-03-01

    Kaiser Permanente Northern California is a large integrated health care delivery system in the United States that has guidelines for referring women with newly diagnosed BRCA1-and BRCA2-associated cancers for genetic counseling. This study assesses adherence to genetic counseling referral guidelines within this health system. Chart review was performed to identify patients with cancer who met the following pathology-based Kaiser Permanente Northern California guidelines for referral for genetic counseling: invasive breast cancer, younger than age 40; nonmucinous epithelial ovarian, fallopian tube, or peritoneal cancer, younger than age 60; women with synchronous or metachronous primary cancers of the breast and ovaries; and male breast cancer. We assessed compliance with referral guidelines. An electronic notice was sent to the managing physician of patients with newly diagnosed cancer to assess the feasibility of this intervention. A total of 340 patients were identified with breast cancer at younger than age 40 or with ovarian, peritoneal, or tubal cancer between January and June, 2008. Upon chart review, 105 of these patients met pathology-based criteria for referral to genetic counseling, of whom 47 (45%) were referred within the 2-year study period. Of the 67 subjects with breast cancer, 40 subjects (60%) were referred. In contrast, only 7 (21%) of 33 patients with ovarian cancer were referred (P < 0.001). A pilot study was performed to test the feasibility of notifying managing oncologists with an electronic letter alerting them of eligibility for genetic referral of patients with new diagnosis (n = 21). In the 3 to 6 months after this notification, 12 of these 21 patients were referred for counseling including 5 of 7 patients with a diagnosis of ovarian cancer. There is a missed opportunity for referring patients to genetic counseling, especially among patients with ovarian cancer. A pilot study suggests that alerting treating physicians is a feasible

  17. Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-03-01

    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.

  18. Level of awareness of genetic counselling in Lagos, Nigeria: its ...

    African Journals Online (AJOL)

    SERVER

    2007-12-17

    Dec 17, 2007 ... The numbers of reported cases of sickle cell disease recorded in private, public and teaching hospitals were 14 and 57; .... should also be a safe and supportive environment in the ... genetic counselling where he/she had received the genetic coun- .... that is commonly recommended for pregnant women is.

  19. A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation.

    Science.gov (United States)

    Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V; van Tintelen, J Peter; van Langen, Irene M

    2015-11-01

    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.

  20. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women

    Science.gov (United States)

    ... their family history of cancer. Depending on a woman’s family history, the doctor or nurse may then use a ... against routine genetic counseling or BRCA testing of women whose family history is not associated with an increased risk for ...

  1. Trends in Unmet Need for Genetic Counseling Among Children With Special Health Care Needs, 2001-2010.

    Science.gov (United States)

    Smith, Anna Jo; Oswald, Donald; Bodurtha, Joann

    2015-01-01

    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.

  2. [Genetic counseling and instruction of marriage for deaf young people: study of 115 cases].

    Science.gov (United States)

    Han, Bing; Dai, Pu; Wang, Guo-Jian; Yuan, Yong-Yi; Li, Qi; Zhang, Xin; Kang, Dong-Yang; Han, Dong-Yi

    2009-03-17

    To invesigate the molecular pathogenesis of deafness among the youth by means of genetic testing so as to provide pre-marriage genetic counseling and instruction for the deaf youth. 217 deaf young people, 126 males and 91 females, aged 18.9 (16 - 26), from Yunnan and Guizhou provinces, underwent history taking, auditory testing, and collection of peripheral blood samples. Genomic DNA and mitochondrial DNA were extracted to undergo sequence analysis of the entire gene GJB2, common point mutation of SLC26A4 gene, and mutation of mtDNA A1555G. Genetic prediction and marriage instruction were provided to each subject based on these results. Twenty-three of the 117 persons (10.5%), 13 males and 10 females, were mtDNA A1555G mutation carriers and they were instructed that they, their maternal relatives, and the offspring of the female carriers, should they be born, should strictly avoid the administration of amino glycoside antibiotics. Twenty eight of the 115 persons (12.9%), were confirmed to carry homozygous or compound GJB2 mutations, 5 individuals (2.3%) carried heterozygous GJB2 mutation, 19 (8.8%) carried homozygous or compound SLC26A4 mutations, and one (0.5%) carried heterozygous SLC26A4 mutation. The suggestion for them was to avoid getting married with deaf partners caused by the same deaf gene or with individuals carrying mutations in the same deaf gene. Meanwhile, suggestions such as avoiding aggressive exercises and head injury were provided to the deaf young people with SLC26A4 mutations. Genetic testing can provide more accurate and useful genetic counseling and instruction to deaf young people for their partner selection and eugenics.

  3. Role-playing is an effective instructional strategy for genetic counseling training: an investigation and comparative study.

    Science.gov (United States)

    Xu, Xiao-Feng; Wang, Yan; Wang, Yan-Yan; Song, Ming; Xiao, Wen-Gang; Bai, Yun

    2016-09-02

    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.

  4. The knowledge value-chain of genetic counseling for breast cancer: an empirical assessment of prediction and communication processes.

    Science.gov (United States)

    Amara, Nabil; Blouin-Bougie, Jolyane; Jbilou, Jalila; Halilem, Norrin; Simard, Jacques; Landry, Réjean

    2016-01-01

    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.

  5. Changing profile of couples seeking genetic counseling for consanguinity in Australia.

    Science.gov (United States)

    Port, Katrina E; Mountain, Helen; Nelson, John; Bittles, Alan H

    2005-01-15

    Consanguineous marriage is rare in most Western countries and, for example, in the USA it may be subject to regulation by both civil legislation and religious prescription. This is not the case in many regions of Asia and Africa where marriage within the family is strongly favored. Since the 1970s there has been widespread migration to North America, Western Europe, and Australasia from communities which encourage consanguineous marriage. To assess the effect of this trend on a genetic counseling program, the records of 302 couples referred to Genetic Services of Western Australia for consanguinity counseling were abstracted for the period 1975-2001. Overall, a family history of genetic disease or a previously affected child was reported in 28.8% of cases. Premarital or prepregnancy counseling on grounds of consanguinity was sought by 41.0% of couples, and a further 18.2% of consanguineous couples had been referred because of a consanguineous pregnancy. In 7.6% of cases a relationship closer than first cousin was involved. Through time there was a significant increase in the numbers of consanguineous consultants, and their patterns of religious affiliation and ethnic origin widened markedly. Although effectively excluded from entry to Australia prior to 1975, couples of Asian origin accounted for 25.5% of all consanguineous consultants. With ongoing migration, changes in the ethnic profiles and the specific counseling requirements of consanguineous couples can be expected to continue and probably accelerate.

  6. Genetic Counseling for Diabetes Mellitus

    Science.gov (United States)

    Stein, Stephanie A.; Maloney, Kristin L.; Pollin, Toni I.

    2014-01-01

    Most diabetes is polygenic in etiology, with (type 1 diabetes, T1DM) or without (type 2 diabetes, T2DM) an autoimmune basis. Genetic counseling for diabetes generally focuses on providing empiric risk information based on family history and/or the effects of maternal hyperglycemia on pregnancy outcome. An estimated one to five percent of diabetes is monogenic in nature, e.g., maturity onset diabetes of the young (MODY), with molecular testing and etiology-based treatment available. However, recent studies show that most monogenic diabetes is misdiagnosed as T1DM or T2DM. While efforts are underway to increase the rate of diagnosis in the diabetes clinic, genetic counselors and clinical geneticists are in a prime position to identify monogenic cases through targeted questions during a family history combined with working in conjunction with diabetes professionals to diagnose and assure proper treatment and familial risk assessment for individuals with monogenic diabetes. PMID:25045596

  7. Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling.

    Science.gov (United States)

    Benusiglio, Patrick R; Di Maria, Marina; Dorling, Leila; Jouinot, Anne; Poli, Antoine; Villebasse, Sophie; Le Mentec, Marine; Claret, Béatrice; Boinon, Diane; Caron, Olivier

    2017-01-01

    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 group 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.

  8. Migrant breast cancer patients and their participation in genetic counseling : results from a registry-based study

    NARCIS (Netherlands)

    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

  9. Migrant breast cancer patients and their participation in genetic counseling: results from a registry-based study.

    NARCIS (Netherlands)

    Baars, J.E.; Dulmen, A.M. van; Velthuizen, M.E.; Theunissen, E.B.M.; Vrouenraets, B.C.; Kimmings, A.N.; Dalen, T. van; Ooijen, B. van; Witkamp, A.J.; Aa, M.A. van der; Ausems, M.G.E.M.

    2016-01-01

    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

  10. Migrant breast cancer patients and their participation in genetic counseling: results from a registry-based study

    NARCIS (Netherlands)

    Baars, J.E.; Dulmen, A.M. van; Velthuizen, M.E.; Theunissen, E.B.; Vrouenraets, B.C.; Kimmings, A.N.; Dalen, T. van; Ooijen, B. van; Witkamp, A.J.; Aa, M.A. van der; Ausems, M.G.

    2016-01-01

    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

  11. Influence of race/ethnicity on genetic counseling and testing for hereditary breast and ovarian cancer.

    Science.gov (United States)

    Forman, Andrea D; Hall, Michael J

    2009-01-01

    Risk assessment coupled with genetic counseling and testing for the cancer predisposition genes BRCA1 and BRCA2 (BRCA1/2) has become an integral element of comprehensive patient evaluation and cancer risk management in the United States for individuals meeting high-risk criteria for hereditary breast and ovarian cancer (HBOC). For mutation carriers, several options for risk modification have achieved substantial reductions in future cancer risk. However, several recent studies have shown lower rates of BRCA1/2 counseling and testing among minority populations. Here, we explore the role of race/ethnicity in cancer risk assessment, genetic counseling and genetic testing for HBOC and the BRCA1/2 cancer predisposition genes. Barriers to genetic services related to race/ethnicity and underserved populations, including socioeconomic barriers (e.g., time, access, geographic, language/cultural, awareness, cost) and psychosocial barriers (e.g., medical mistrust, perceived disadvantages to genetic services), as well as additional barriers to care once mutation carriers are identified, will be reviewed.

  12. Telemedicine vs in-person cancer genetic counseling: measuring satisfaction and conducting economic analysis

    Directory of Open Access Journals (Sweden)

    Datta SK

    2011-05-01

    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

  13. Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent: participation determinants and perspectives of patients and healthcare professionals.

    Science.gov (United States)

    Baars, J E; van Dulmen, A M; Velthuizen, M E; van Riel, E; Ausems, M G E M

    2017-04-01

    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 professionals and patients. Questionnaire-based telephone interviews about awareness, perceptions, and reasons for (non-) participation in cancer genetic counseling were conducted with 78 Dutch breast cancer patients from Turkish and Moroccan descent. The interviews were held in Arabic, Berber, Turkish, or Dutch by bilingual research assistants. Additionally, 14 breast cancer patients participated in one of two focus group meetings, and two focus groups were held with 11 healthcare professionals. SPSS and QSR Nvivo were used to examine the quantitative and qualitative data, respectively. Half of the total group of patients (N = 78) and 79% of patients eligible for genetic counseling and testing (N = 33) were aware of the possibility of genetic counseling. The most important determinants for nonparticipation in genetic counseling were experienced difficulties in patient-doctor communication, cultural factors (e.g., social norms), limited health literacy, limited knowledge of the family cancer history, and anxiety about cancer. Religious beliefs and knowing personal and family members' breast cancer risks were motives to obtain genetic counseling. Despite the fact that our study showed that Moroccan and Turkish women reported several personal motives to obtain genetic counseling and testing (GCT), patients and healthcare professionals experience significant language and health literacy difficulties, which make it harder to fully access health care such as genetic counseling and testing.

  14. Woman's Pre-Conception Evaluation: Genetic and Fetal Risk Considerations for Counselling and Informed Choice.

    Science.gov (United States)

    Wilson, R Douglas

    2017-10-11

    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

  15. Barriers and Facilitators for Utilization of Genetic Counseling and Risk Assessment Services in Young Female Breast Cancer Survivors

    Directory of Open Access Journals (Sweden)

    Beth Anderson

    2012-01-01

    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.

  16. Barriers and Facilitators for Utilization of Genetic Counseling and Risk Assessment Services in Young Female Breast Cancer Survivors

    International Nuclear Information System (INIS)

    Anderson, B.; McLosky, J.; Wasilevich, E.; Callo, S. L.; Duquette, D.; Copeland, G.

    2012-01-01

    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.

  17. Clinical utility of fetal autopsy and its impact on genetic counseling.

    Science.gov (United States)

    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

    2015-07-01

    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.

  18. Pre-natal genetic counselling in a resource limited country - a single center geneticist's perspectives

    International Nuclear Information System (INIS)

    Afroze, B.; Jehan, F.

    2014-01-01

    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)

  19. Peering into a Chilean black box: parental storytelling in pediatric genetic counseling.

    Science.gov (United States)

    Ordonez, Jessica; Margarit, Sonia; Downs, Katy; Yashar, Beverly M

    2013-12-01

    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.

  20. Genetic counseling and the disabled: feminism examines the stance of those who stand at the gate.

    Science.gov (United States)

    Patterson, Annette; Satz, Martha

    2002-01-01

    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.

  1. Telegenetics use in presymptomatic genetic counselling : patient evaluations on satisfaction and quality of care

    NARCIS (Netherlands)

    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

  2. Autism spectrum disorders: an updated guide for genetic counseling.

    Science.gov (United States)

    Griesi-Oliveira, Karina; Sertié, Andréa Laurato

    2017-01-01

    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

  3. [Genetic counseling and testing for families with Alzheimer's disease].

    Science.gov (United States)

    Kowalska, Anna

    2004-01-01

    With the identification of the genes responsible for autosomal dominant early-onset familial Alzheimer's disease (FAD genes), there is a considerable interest in the application of this genetic information in medical practice through genetic testing and counseling. Pathogenic mutations in the PSEN1 and PSEN2 genes encoding presenilin-1 and -2, and the APP gene encoding amyloid b precursor protein, account for 18-50% of familial EOAD cases with autosomal dominant pattern of inheritance. A clinical algorithm of genetic testing and counseling proposed for families with AD has been presented here. A screening for mutations in the APP, PSEN1, and PSEN2 genes is available to individuals with AD symptoms and at-risk children or siblings of patients with early-onset disease determined by a known mutation. In an early-onset family, a known mutation in an affected patient puts the siblings and children at a 50% risk of inheriting the same mutation. The goal of genetic testing is to identify at-risk individuals in order to facilitate early and effective treatments in the symptomatic person based on an individual's genotype and strategies to delay the onset of disease in the presymptomatic mutation carriers. However, there are several arguments against the use of genetic testing both presymptomatically (unpredictable psychological consequences of information about a genetic defect for family members) and as a diagnostic tool for the differential diagnosis of dementia in general practice (a risk of errors in an interpretation of mutation penetrance and its secondary effects on family members, especially for novel mutations; the possibility of coexistence of another form of dementia at the presence of a mutation). Currently, APOE genotyping for presymptomatic individuals with a family history of late-onset disease is not recommended. The APOE4 allele may only confer greater risk for disease, but its presence is not conclusive for the development of AD.

  4. The efficacy of a standardized questionnaire in facilitating personalized communication about problems encountered in cancer genetic counseling: design of a randomized controlled trial.

    Science.gov (United States)

    Eijzenga, Willem; Aaronson, Neil K; Kluijt, Irma; Sidharta, Grace N; Hahn, Daniela Ee; Ausems, Margreet Gem; Bleiker, Eveline Ma

    2014-01-15

    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

  5. Elaboration of the Reciprocal-Engagement Model of Genetic Counseling Practice: a Qualitative Investigation of Goals and Strategies.

    Science.gov (United States)

    Redlinger-Grosse, Krista; Veach, Patricia McCarthy; LeRoy, Bonnie S; Zierhut, Heather

    2017-12-01

    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.

  6. Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent: participation determinants, and perspectives of patients and healthcare professionals.

    OpenAIRE

    Baars, J.E.; Dulmen, S. van; Veldhuizen, M.E. van; Riel, E. van; Ausems, M.G.E.M.

    2017-01-01

    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 healthcare professionals and patients. Questionnaire-based telephone interviews about awareness, perceptions, and reasons for (non-) participation in cancer genetic counseling were conducted with 78 ...

  7. Development of FOCUS-GC: Framework for Outcomes of Clinical Communication Services in Genetic Counseling.

    Science.gov (United States)

    Cragun, Deborah; Zierhut, Heather

    2018-02-01

    Conceptual frameworks bring together existing theories and models in order to identify, consolidate, and fill in gaps between theory, practice, and evidence. Given the vast number of possible outcomes that could be studied in genetic counseling, a framework for organizing outcomes and postulating relationships between communication services and genetic counseling outcomes was sought. Through an iterative approach involving literature review, thematic analysis, and consolidation, outcomes and processes were categorized to create and define components of a conceptual framework. The final product, "Framework for Outcomes of Clinical commUnication Services" (FOCUS) contains the following domains: communication strategy; communication process measures; patient care experience, patient changes, patient health; and family changes. A website was created to allow easier access and ongoing modifications to the framework. In addition, a step-by-step guide and two examples were created to show flexibility in how the framework can be used. FOCUS may help in conceptualizing, organizing and summarizing outcomes research related to risk communication and counseling in genetic service delivery as well as other healthcare settings.

  8. Researcher responsibilities and genetic counseling for pure-bred dog populations.

    Science.gov (United States)

    Bell, Jerold S

    2011-08-01

    Breeders of dogs have ethical responsibilities regarding the testing and management of genetic disease. Molecular genetics researchers have their own responsibilities, highlighted in this article. Laboratories offering commercial genetic testing should have proper sample identification and quality control, official test result certificates, clear explanations of test results and reasonably priced testing fees. Providing test results to a publicly-accessible genetic health registry allows breeders and the public to search for health-tested parents to reduce the risk of producing or purchasing affected offspring. Counseling on the testing and elimination of defective genes must consider the effects of genetic selection on the population. Recommendations to breed quality carriers to normal-testing dogs and replacing them with quality normal-testing offspring will help to preserve breeding lines and breed genetic diversity. Copyright © 2011 Elsevier Ltd. All rights reserved.

  9. An investigation of relationships among genetic counselors' supervision skills and multicultural counseling competence.

    Science.gov (United States)

    Kyung Lee, Hyun; McCarthy Veach, Patricia; LeRoy, Bonnie S

    2009-06-01

    As racial and ethnic diversity increase in the U.S., genetic counselor multicultural competence is growing in importance. In mental health counseling, supervisor multicultural competence has been shown to promote supervisees' multicultural competence. Moreover, developmentally-advanced supervisors tend to be more effective. This study was designed to investigate relationships among genetic counselor supervisors' perceived multicultural counseling competence and development as supervisors, and their ability to evaluate a supervisee's multicultural skills. One hundred twenty-two supervisors completed an online survey of demographics, the Multicultural Counseling Knowledge and Awareness Scale, the Supervisor Development Scale, and a hypothetical vignette in which they evaluated a supervisee's multicultural skills and provided written feedback. Stepwise multiple regression yielded five significant predictors accounting for 31% of the variance in accuracy of supervisor evaluations of the student: multicultural awareness, multicultural knowledge, age, supervision experience, and supervisor development. Six feedback themes were identified from written responses. Practice and research suggestions are provided.

  10. Attitudes Towards Prenatal Genetic Counseling, Prenatal Genetic Testing, and Termination of Pregnancy among Southeast and East Asian Women in the United States.

    Science.gov (United States)

    Tsai, Ginger J; Cameron, Carrie A; Czerwinski, Jennifer L; Mendez-Figueroa, Hector; Peterson, Susan K; Noblin, Sarah Jane

    2017-10-01

    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.

  11. Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.

    Science.gov (United States)

    Chen, Kaitian; Zong, Ling; Zhan, Yuan; Wu, Xuan; Liu, Min; Jiang, Hongyan

    2015-05-01

    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.

  12. [Genetic counseling in cystic fibrosis].

    Science.gov (United States)

    Julia, S; Bieth, E

    2000-08-01

    Genetic counseling is an important part of health care in patients with cystic fibrosis or respiratory diseases associated with the CFTR (cystic fibrosis transmembrane conductance regulator) gene, including certain types of allergic bronchopulmonary aspergilloses or bronchial diseases (diffuse bronchiectasia). The basic goal is to provide patients with information on the transmission of cystic fibrosis and to asses the risk of recurrence. This risk is determined from molecular biology analyses examining the CFTR gene. Genotyping is the only means of screening for the heterozygous state, frequent in the French population (about 1/30). Because of the large number of mutated alleles not covered entirely by the genetic tests, there remains a question of probability expressed as a residual risk of a heterozygous state. A prenatal genotype diagnosis should be proposed to heterozygous couples who have a 25% risk of having a diseased child. Technically, this is almost always possible and the results are highly reliable. Nevertheless, there remains the risks related to sample taking and the ethical issue about which the patients must be informed. Management of these at risk couples who desire a child must be based on a multidisciplinary approach, particularly important when one of the parents has overt cystic fibrosis.

  13. Measuring Awareness and Identifying Misconceptions About Genetic Counseling Services and Utilizing Television to Educate

    Science.gov (United States)

    Goldberg, Dena

    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.

  14. Online genetic counseling from the providers' perspective: counselors' evaluations and a time and cost analysis

    Science.gov (United States)

    Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V; van Langen, Irene M

    2016-01-01

    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, showing positive patients' and professionals' satisfaction. One economic analysis published thus far reported lower costs than in-person care. We hypothesized that telegenetics can also be beneficial from the professional's view in relatively small geographical areas. We performed a pilot study in the Northern Netherlands of 51 home-based online counseling sessions for cardiogenetic and oncogenetic cascade screening, and urgent prenatal counseling. Previously, we showed patient satisfaction, anxiety, and perceived control of online counseling to be comparable to in-person counseling. This study focuses on expectations, satisfaction, and practical evaluations of the involved counselors, and the impact in terms of time and costs. Most counselors expected disadvantages of online counseling for themselves and their patients, mainly concerning insufficient non-verbal communication; few expected advantages for themselves. Afterwards, counselors additionally raised the disadvantage of insufficient verbal communication, and reported frequent technical problems. Their overall mean telemedicine satisfaction itemscore was 3.38 before, and 2.95 afterwards, being afterwards slightly below the minimum level we set for a satisfactory result. We estimated reduced time and costs by online counseling with about 8% and 10–12%, respectively. We showed online genetic counseling to be effective, feasible and cost-efficient, but technical improvements are needed to increase counselors' satisfaction. PMID:26785833

  15. A pre-visit tailored website enhances counselees’ realistic expectations and knowledge and fulfils information needs for breast cancer genetic counselling.

    NARCIS (Netherlands)

    Albada, A.; Dulmen, S. van; Lindhout, D.; Bensing, J.M.; Ausems, M.G.E.M.

    2012-01-01

    Counselees who are the first in their family to request breast cancer genetic counselling often don't know what to expect or have unrealistic expectations of genetic counselling. Receiving tailored information might help them to prepare for their first visit. We conducted a study of the effects of a

  16. Subjective versus objective risk in genetic counseling for hereditary breast and/or ovarian cancers

    Directory of Open Access Journals (Sweden)

    Sperduti Isabella

    2009-12-01

    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.

  17. Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent : participation determinants and perspectives of patients and healthcare professionals

    NARCIS (Netherlands)

    Baars, J E; van Dulmen, A M; Velthuizen, M E; van Riel, E; Ausems, M G E M

    2017-01-01

    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

  18. Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent: participation determinants, and perspectives of patients and healthcare professionals.

    NARCIS (Netherlands)

    Baars, J.E.; Dulmen, S. van; Veldhuizen, M.E. van; Riel, E. van; Ausems, M.G.E.M.

    2017-01-01

    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

  19. A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation

    NARCIS (Netherlands)

    Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V.; van Tintelen, J. Peter; van Langen, Irene M.

    2015-01-01

    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

  20. A group approach to genetic counselling of cardiomyopathy patients : satisfaction and psychological outcomes sufficient for further implementation

    NARCIS (Netherlands)

    Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V.; van Tintelen, J. Peter; van Langen, Irene M.

    2015-01-01

    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

  1. Interpretation in reproductive genetic counseling: a methodological framework.

    Science.gov (United States)

    Tóth, Adél; Szeverényi, Péter

    2007-09-01

    In case of genetic risk, parents are often faced with reproductive decisions affecting their life essentially, so it is advisable to pursue careful deliberation. For this reason, the genetic counselor is expected to help the counselee make well-informed and well-considered decisions, which requires the understanding of the patient as an individual. To reach emphatic understanding, physicians can use the results of the Gadamerian theory of interpretation that contains the idea -- as it has been summarized by V. Arnason -- that four aspects of openness are necessary to fully understand the other, such as openness to oneself, to the other, to the subject matter and to tradition. In our paper, we are applying the four-openness model of interpretation to genetic consultation, and we argue that during counseling double interpretation takes place: the physician interprets the patient, and the patient interprets the physician. Double interpretation leads to the clarification of those factors which influence the patient's decision-making: the counselor's attitude and prejudices, the counselee's values and needs, the medical, social, and moral implications of the genetic disease, and the social expectations. By adopting the theory of interpretation, counselors can also advance the provision of emotional support patients need in hard situations.

  2. Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida.

    Science.gov (United States)

    Vadaparampil, S T; Scherr, C L; Cragun, D; Malo, T L; Pal, T

    2015-05-01

    Genetic counseling and testing for hereditary breast and ovarian cancer now includes practitioners from multiple healthcare professions, specialties, and settings. This study examined whether non-genetics professionals (NGPs) perform guideline-based patient intake and informed consent before genetic testing. NGPs offering BRCA testing services in Florida (n = 386) were surveyed about clinical practices. Among 81 respondents (response rate = 22%), approximately half reported: sometimes scheduling a separate session for pre-test counseling lasting 11-30 min prior to testing, discussing familial implications of testing, benefits and limitations of risk management options, and discussing the potential psychological impact and insurance-related issues. Few constructed a three-generation pedigree, discussed alternative hereditary cancer syndromes, or the meaning of a variant result. This lack of adherence to guideline-based practice may result in direct harm to patients and their family members. NGPs who are unable to deliver guideline adherent cancer genetics services should focus on identification and referral of at-risk patients to in person or telephone services provided by genetics professionals. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer.

    Science.gov (United States)

    Cicero, G; De Luca, R; Dorangricchia, P; Lo Coco, G; Guarnaccia, C; Fanale, D; Calò, V; Russo, A

    2017-10-01

    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.

  4. 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?

    NARCIS (Netherlands)

    Dijkstra, H.; Albada, A.; Klöckner Cronauer, C.; Ausems, M.G.E.M.; Dulmen, S. van

    2013-01-01

    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

  5. Randomized comparison of group versus individual genetic education and counseling for familial breast and/or ovarian cancer.

    Science.gov (United States)

    Calzone, Kathleen A; Prindiville, Sheila A; Jourkiv, Oxana; Jenkins, Jean; DeCarvalho, Maria; Wallerstedt, Dawn B; Liewehr, David J; Steinberg, Seth M; Soballe, Peter W; Lipkowitz, Stan; Klein, Pamela; Kirsch, Ilan R

    2005-05-20

    An efficient approach to education and counseling before BRCA1 and BRCA2 mutation testing is necessary for effective utilization of testing in the community. Education and counseling, when delivered individually, are limited by a shortage of trained health care providers as well as by financial and time constraints. The purpose of this study was to determine whether pretest education and counseling for breast cancer genetics in a group setting is equivalent to that provided on an individual basis. One hundred forty-two patients at high risk for harboring a BRCA mutation were randomly assigned to group or individual education and counseling sessions. Group education was followed by brief individual counseling. Knowledge and Impact of Events Scales (IES) were administered at baseline and after education and counseling and at 1 week and 3, 6, and 12 months. Satisfaction with education and counseling was measured at completion of the session. Preferred method of education and counseling was solicited at 3 months. There was no difference in knowledge or IES scores between groups. When stratified by genetic test results, knowledge scores showed no difference. Regardless of group, post-test IES scores in patients with positive results were higher than patients with negative or uninformative results but returned to baseline by 12 months. Participants were equally satisfied with either method they were assigned. Significantly more time was spent per patient in individual sessions (1.25 hours) than in group education (0.74 hours). Our data suggest that group education and counseling may confer similar benefits compared with traditional individual sessions. Additional investigation of this approach in larger numbers of patients is warranted.

  6. Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire.

    Science.gov (United States)

    Cuturilo, Goran; Vucinic, Olivera Kontic; Novakovic, Ivana; Ignjatovic, Svetlana; Mijovic, Marija; Sulovic, Nenad; Vukolic, Dusan; Komnenic, Milica; Tadic, Jasmina; Cetkovic, Aleksandar; Belic, Aleksandra; Ljubic, Aleksandar

    2016-02-01

    This is the first study in Serbia and the region of South-East Europe dedicated to clients' perception of outcome and efficiency of prenatal and reproductive genetic counseling. The primary aim of this study was to assess overall value and success of genetic counseling in prenatal and reproductive care with regard to perceived personal control of clients, reflecting also in a part patient comprehension, knowledge retention, and empowerment in decision-making. The standardized Perceived Personal Control questionnaire (PPC) was used for the assessment of 239 female participants. First, we performed a complete validation of the psychometric characteristics of the Serbian-language version of the PPC questionnaire. The validation of the questionnaire permits other researchers from Serbian-speaking regions of South-East Europe to use this standard instrument to assess the effectiveness of prenatal genetic counseling in their communities and analyze advantages and disadvantages of their counseling models. We also measured social and demographic characteristics of participants. Further, we analyzed effects of our team-based prenatal and reproductive genetic counseling model through (a) calculation of PPC scores at three different stages (before initial, after initial, and before second counseling session), and (b) by assessing participants' responses by indication for referral (advanced maternal age, abnormal biochemical screening, family history of hereditary disorders, maternal exposure to drugs, exposure to radiation, exposure to infective agents, infertility or recurrent abortions, and miscellaneous). The results indicate that participants' knowledge after initial counseling increased significantly and after that remained stable and sustainable. A satisfactory level of confidence among participants had been achieved, in that many felt an increased sense of control over their situation and emotional response to it. Indirectly, these results indicate the success of a

  7. Genetic counseling of the cancer survivor

    International Nuclear Information System (INIS)

    Mulvihill, J.J.; Byrne, J.

    1989-01-01

    Each year, tens of thousands of persons are diagnosed with cancer, are treated, and become survivors while still in their reproductive years. Their concerns about possible germ-cell damage as a result of life-saving radiation, chemotherapy, or both are plausible, based on evidence from animal models and from somatic cell mutations in human beings. A 40-year follow-up of survivors of the atomic bomb blasts in Japan showed no detectable genetic damage and suggested that the human gonad is more resistant to radiogenic mutation than the laboratory mouse. The pooled results of studying 12 series of offspring of cancer patients showed a 4% rate of major birth defects (similar to that of the general population) and an excess of fetal loss and low birth weight in offspring of women who received abdominal radiotherapy. According to preliminary evaluation of a new National Cancer Institute collaboration with five cancer registries, offspring of survivors of childhood cancers had no more birth defects than expected and, beyond an increase in probably familial cancers in children younger than 5, no overall increase in childhood cancer. Ideally, genetic and reproductive counseling should take place as soon as cancer is diagnosed (before therapy starts) and again when pregnancy is contemplated. 28 references

  8. Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility.

    Science.gov (United States)

    Bradbury, Angela R; Patrick-Miller, Linda; Long, Jessica; Powers, Jacquelyn; Stopfer, Jill; Forman, Andrea; Rybak, Christina; Mattie, Kristin; Brandt, Amanda; Chambers, Rachelle; Chung, Wendy K; Churpek, Jane; Daly, Mary B; Digiovanni, Laura; Farengo-Clark, Dana; Fetzer, Dominique; Ganschow, Pamela; Grana, Generosa; Gulden, Cassandra; Hall, Michael; Kohler, Lynne; Maxwell, Kara; Merrill, Shana; Montgomery, Susan; Mueller, Rebecca; Nielsen, Sarah; Olopade, Olufunmilayo; Rainey, Kimberly; Seelaus, Christina; Nathanson, Katherine L; Domchek, Susan M

    2015-06-01

    Multiplex genetic testing, including both moderate- and high-penetrance genes for cancer susceptibility, is associated with greater uncertainty than traditional testing, presenting challenges to informed consent and genetic counseling. We sought to develop a new model for informed consent and genetic counseling for four ongoing studies. Drawing from professional guidelines, literature, conceptual frameworks, and clinical experience, a multidisciplinary group developed a tiered-binned genetic counseling approach proposed to facilitate informed consent and improve outcomes of cancer susceptibility multiplex testing. In this model, tier 1 "indispensable" information is presented to all patients. More specific tier 2 information is provided to support variable informational needs among diverse patient populations. Clinically relevant information is "binned" into groups to minimize information overload, support informed decision making, and facilitate adaptive responses to testing. Seven essential elements of informed consent are provided to address the unique limitations, risks, and uncertainties of multiplex testing. A tiered-binned model for informed consent and genetic counseling has the potential to address the challenges of multiplex testing for cancer susceptibility and to support informed decision making and adaptive responses to testing. Future prospective studies including patient-reported outcomes are needed to inform how to best incorporate multiplex testing for cancer susceptibility into clinical practice.Genet Med 17 6, 485-492.

  9. Sending family history questionnaires to patients before a colonoscopy improves genetic counseling for hereditary colorectal cancer.

    Science.gov (United States)

    Kessels, Koen; Eisinger, Joey D; Letteboer, Tom G; Offerhaus, G Johan A; Siersema, Peter D; Moons, Leon M G

    2017-06-01

    To investigate whether sending a family history questionnaire to patients prior to undergoing colonoscopy results in an increased availability of family history and better genetic counseling. A questionnaire was mailed to patients before they underwent outpatient colonoscopy at a university hospital in 2013. These patients' additional characteristics and referral for genetic evaluation were retrieved from the electronic medical records. Patients undergoing inpatient coloboscopy, with confirmed hereditary colorectal cancer (CRC) or inflammatory bowel disease were excluded. All study patients from 2010 to 2013 were matched with the database of the genetics department to determine who consulted a geneticist. A total of 6163 patients underwent colonoscopy from 2010 to 2013. Of 1421 who underwent colonoscopy in 2013, 53 (3.7%) consulted a geneticist, while 75 (1.6%) of 4742 patients undergoing colonoscopy between 2010 and 2012 did so (P history was not recorded in the electronic medical records of 393 (40.3%). In 129 (32.8%), family history was obtained from the completed questionnaire. In 2013, 49 (60.5%) out of 81 patients referred for genetic counseling were referred based on their family history. Eight (9.9%) patients were referred based on the completed questionnaire. Screening for hereditary CRC in a population undergoing outpatient colonoscopy with a questionnaire sent by mail resulted in an increased availability of family histories and genetic counseling. © 2017 Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine and John Wiley & Sons Australia, Ltd.

  10. Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.

    Science.gov (United States)

    Tamayo, M L; Lopez, G; Gelvez, N; Medina, D; Kimberling, W J; Rodríguez, V; Tamayo, G E; Bernal, J E

    2008-01-01

    Usher Syndrome (US), an autosomal recessive disease, is characterized by retinitis pigmentosa (RP), vestibular dysfunction, and congenital sensorineural deafness. There are three recognized clinical types of the disorder. In order to improve genetic counseling for affected families, we conducted linkage analysis and DNA sequencing in 10 Colombian families with confirmed diagnosis of US (4 type I and 6 type II). Seventy-five percent of the US1 families showed linkage to locus USH1B, while the remaining 25% showed linkage to loci USH1B and USH1C. Among families showing linkage to USH1B we found two different mutations in the MYO7A gene: IVS42-26insTTGAG in exon 43 (heterozygous state) and R634X (CGA-TGA) in exon 16 (homozygous state). All six US2 families showed linkage to locus USH2A. Of them, 4 had c.2299delG mutation (1 homozygote state and 3 heterozygous); in the remaining 2 we did not identify any pathologic DNA variant. USH2A individuals with a 2299delG mutation presented a typical and homogeneous retinal phenotype with bilateral severe hearing loss, except for one individual with a heterozygous 2299delG mutation, whose hearing loss was asymmetric, but more profound than in the other cases. The study of these families adds to the genotype-phenotype characterization of the different types and subtypes of US and facilitates genetic counseling in these families. We would like to emphasize the need to perform DNA studies as a prerequisite for genetic counseling in affected families.

  11. Hereditary breast/ovarian cancer--pitfalls in genetic counseling.

    Science.gov (United States)

    Dagan, E; Gershoni-Baruch, R

    2001-10-01

    Genetic counseling and risk assessment, given to women with a family history of breast/ovarian cancer, are regularly based on pedigree analysis. In the Ashkenazi Jewish population, hereditary breast/ovarian cancer is mainly attributed to three founder mutations, namely, 185delAG, 5382insC, and 6174delT, in BRCA1/2 genes. The overall frequency of these mutations, in the Jewish Ashkenazi population, is as high as 2.5%. Based on clinical and family history data, the results of BRCA molecular testing, in Ashkenazi individuals at risk, are appropriately anticipated in most cases. Here we report on five families, in which the segregation of BRCA1/2 mutations, in affected and unaffected family members, was unexpected, emphasizing the need to test, for founder mutations, every Ashkenazi individual at risk, irrespective of the genotype of affected family members. Ultimately, risk assessments and recommendations, in Ashkenazi women, should be invariably based on the results of genetic testing.

  12. Assessment of Health Belief Model (HBM impact on knowledge, beliefs, and self-efficacy of women in need of genetic counseling

    Directory of Open Access Journals (Sweden)

    Mitra Moodi

    2016-09-01

    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.

  13. Y chromosome microdeletions and alterations of spermatogenesis, patient approach and genetic counseling.

    Science.gov (United States)

    Rives, Nathalie

    2014-05-01

    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.

  14. Prenatal genetic counseling in cross-cultural medicine: A framework for family physicians.

    Science.gov (United States)

    Bhogal, Ashvinder K; Brunger, Fern

    2010-10-01

    To help family physicians practise effective genetic counseling and offer practical strategies for cross-cultural communication in the context of prenatal genetic counseling. PubMed and the Cochrane Database of Systematic Reviews were searched. Most evidence was level II and some was level III. The values and beliefs of practitioners, no less than those of patients, are shaped by culture. In promoting a patient's best interest, the assumptions of both the patient and the provider must be held up for examination and discussed in the attempt to arrive at a consensus. Through the explicit discussion and formation of trust, the health professionals, patients, and family members who are involved can develop a shared understanding of appropriate therapeutic goals and methods. Reflecting on the cultural nature of biomedicine's ideas about risk, disability, and normality helps us to realize that there are many valid interpretations of what is in a patient's best interest. Self-reflection helps to ensure that respectful communication with the specific family and patient is the basis for health care decisions. Overall, this helps to improve the quality of care.

  15. Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations.

    Science.gov (United States)

    Nouri, Narges; Nouri, Nayereh; Tirgar, Samane; Soleimani, Elham; Yazdani, Vida; Zahedi, Farzaneh; Larijani, Bagher

    2017-01-01

    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.

  16. [Development, problems and results of specialty-specific genetic counseling at the Neurology Clinic of the Karl Marx University].

    Science.gov (United States)

    Bachmann, H

    1987-11-01

    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.

  17. The Impact of Mental Illness on Uptake of Genetic Counseling for Hereditary Breast Cancer and Ovarian Cancer in a Multiethnic Cohort of Breast Cancer Patients.

    Science.gov (United States)

    Ackerman, Marra G; Shapiro, Peter A; Coe, Austin; Trivedi, Meghna S; Crew, Katherine D

    2017-09-01

    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.

  18. Rapid genetic counseling and testing in newly diagnosed breast cancer : Surgical and psychosocial implications

    NARCIS (Netherlands)

    Wevers, M.R.

    2018-01-01

    Genetic counseling and testing for breast cancer have traditionally been offered to eligible patients after completion of their primary treatment. Women with hereditary breast cancer, caused by a germline mutation in the BRCA1 or BRCA2 gene, have an increased risk of contralateral breast cancer and

  19. The value of CT in genetic counseling in tuberous sclerosis

    International Nuclear Information System (INIS)

    Scotti, L.N.; Bartoletti, S.C.

    1980-01-01

    The families of two patients with known tuberous sclerosis were electively evaluated by computed tomography. The CT positive (and negative) examination proved to be valuable for the genetic counseling of family members without overt clinical manifestations of tuberous sclerosis. Two patients had evidence of smaller enhancing lesions (minimal demonstrable mass without hydrocephalus) following intravenous contrast enhancement. We, therefore, suggest the use of contrast enhanced scans in addition to the plain scans to identify what may represent occult neoplasms. Abdominal CT scans can prove useful in identifying the frequently associated renal hamartomas. (orig.) [de

  20. QUOTE-gene(ca): development of a counselee-centered instrument to measure needs and preferences in genetic counseling for hereditary cancer.

    Science.gov (United States)

    Pieterse, Arwen; van Dulmen, Sandra; Ausems, Margreet; Schoemaker, Angela; Beemer, Frits; Bensing, Jozien

    2005-05-01

    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.

  1. Genetic Counseling and Cardiac Care in Predictively Tested Hypertrophic Cardiomyopathy Mutation Carriers: The Patients' Perspective

    NARCIS (Netherlands)

    Christiaans, Imke; van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A. M.; Smets, Ellen M. A.

    2009-01-01

    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

  2. Ethics of genetic counseling--basic concepts and relevance to Islamic communities.

    Science.gov (United States)

    El-Hazmi, Mohsen A F

    2004-01-01

    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.

  3. Changes in screening behaviors and attitudes toward screening from pre-test genetic counseling to post-disclosure in Lynch syndrome families

    Science.gov (United States)

    Burton-Chase, Allison M.; Hovick, Shelly R.; Peterson, Susan K.; Marani, Salma K.; Vernon, Sally W.; Amos, Christopher I.; Frazier, Marsha L.; Lynch, Patrick M.; Gritz, Ellen R.

    2013-01-01

    Purpose This study examined colonoscopy adherence and attitudes towards colorectal cancer (CRC) screening in individuals who underwent Lynch syndrome genetic counseling and testing. Methods We evaluated changes in colonoscopy adherence and CRC screening attitudes in 78 cancer-unaffected relatives of Lynch syndrome mutation carriers before pre-test genetic counseling (baseline) and at 6 and 12 months post-disclosure of test results (52 mutation-negative, 26 mutation-positive). Results While both groups were similar at baseline, at 12 months post-disclosure, a greater number of mutation-positive individuals had had a colonoscopy compared with mutation-negative individuals. From baseline to 12 months post-disclosure, the mutation-positive group demonstrated an increase in mean scores on measures of colonoscopy commitment, self-efficacy, and perceived benefits of CRC screening, and a decrease in mean scores for perceived barriers to CRC screening. Mean scores on colonoscopy commitment decreased from baseline to 6 months in the mutation-negative group. Conclusion Adherence to risk-appropriate guidelines for CRC surveillance improved after genetic counseling and testing for Lynch syndrome. Mutation-positive individuals reported increasingly positive attitudes toward CRC screening after receiving genetic test results, potentially reinforcing longer term colonoscopy adherence. PMID:23414081

  4. Effective Referral of Low-Income Women at Risk for Hereditary Breast and Ovarian Cancer to Genetic Counseling: A Randomized Delayed Intervention Control Trial.

    Science.gov (United States)

    Pasick, Rena J; Joseph, Galen; Stewart, Susan; Kaplan, Celia; Lee, Robin; Luce, Judith; Davis, Sharon; Marquez, Titas; Nguyen, Tung; Guerra, Claudia

    2016-10-01

    To determine the effectiveness of a statewide telephone service in identifying low-income women at risk for hereditary breast and ovarian cancer and referring them to free genetic counseling. From June 2010 through August 2011, eligible callers to California's toll-free breast and cervical cancer telephone service were screened for their family histories of breast and ovarian cancer. High-risk women were identified and called for a baseline survey and randomization to an immediate offer of genetic counseling or a mailed brochure on how to obtain counseling. Clinic records were used to assess receipt of genetic counseling after 2 months. Among 1212 eligible callers, 709 (58.5%) agreed to answer family history questions; 102 (14%) were at high risk (25% Hispanic, 46% White, 10% Black, 16% Asian, 3% of other racial/ethnic backgrounds). Of the high-risk women offered an immediate appointment, 39% received counseling during the intervention period, as compared with 4.5% of those receiving the brochure. A public health approach to the rare but serious risk of hereditary breast and ovarian cancer can be successful when integrated into the efforts of existing safety net organizations.

  5. Genetic counselling, BRCA1/2 status and clinico-pathologic characteristics of patients with ovarian cancer before 50 years of age

    Directory of Open Access Journals (Sweden)

    Cvelbar Mirjam

    2017-05-01

    Full Text Available In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years.

  6. Risk Estimation as a Decision-Making Tool for Genetic Analysis of the Breast Cancer Susceptibility Genes

    Directory of Open Access Journals (Sweden)

    Jenny Chang-Claude

    1999-01-01

    Full Text Available For genetic counselling of a woman on familial breast cancer, an accurate evaluation of the probability that she carries a germ-line mutation is needed to assist in making decisions about genetic-testing.

  7. Have You Ever Googled a Patient or Been Friended by a Patient? Social Media Intersects the Practice of Genetic Counseling.

    Science.gov (United States)

    Omaggio, NinaMarie F; Baker, Maria J; Conway, Laura J

    2018-04-01

    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.

  8. 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.

    Science.gov (United States)

    Siglen, Elen; Bjorvatn, Cathrine; Engebretsen, Lars Fredrik; Berglund, Gunilla; Natvig, Gerd Karin

    2007-10-01

    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.

  9. Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

    Science.gov (United States)

    Cascella, R; Strafella, C; Longo, G; Manzo, L; Ragazzo, M; De Felici, C; Gambardella, S; Marsella, L T; Novelli, G; Borgiani, P; Sangiuolo, F; Cusumano, A; Ricci, F; Giardina, E

    2018-02-01

    PurposeThe goal was to develop a simple model for predicting the individual risk profile for age-related macular degeneration (AMD) on the basis of genetic information, disease family history, and smoking habits.Patients and methodsThe study enrolled 151 AMD patients following specific clinical and environmental inclusion criteria: age >55 years, positive family history for AMD, presence of at least one first-degree relative affected by AMD, and smoking habits. All of the samples were genotyped for rs1061170 (CFH) and rs10490924 (ARMS2) with a TaqMan assay, using a 7500 Fast Real Time PCR device. Statistical analysis was subsequently employed to calculate the real individual risk (OR) based on the genetic data (ORgn), family history (ORf), and smoking habits (ORsm).Results and conclusionThe combination of ORgn, ORf, and ORsm allowed the calculation of the Ort that represented the realistic individual risk for developing AMD. In this report, we present a computational model for the estimation of the individual risk for AMD. Moreover, we show that the average distribution of risk alleles in the general population and the knowledge of parents' genotype can be decisive to assess the real disease risk. In this contest, genetic counseling is crucial to provide the patients with an understanding of their individual risk and the availability for preventive actions.

  10. Counselling adults who experience a first seizure.

    Science.gov (United States)

    Legg, Karen T; Newton, Mark

    2017-07-01

    A first seizure can result in significant uncertainty, fear and apprehension. One of the key roles of the clinician in the setting of first seizure is to provide accurate, timely information and counselling. We review the numerous components to be considered when counselling an adult patient after a first seizure. We provide a framework and manner to provide that counselling. We focus on an individualized approach and provide recommendations and information on issues of diagnosis, etiology, prognosis, the role and importance of medical testing, lifestyle considerations, driving, medication and other key counselling considerations. Accurate, timely counselling can allay fears and anxieties, remove misconceptions and reduce the risk for injury in seizure recurrence. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  11. Genetic counseling follow-up - a retrospective study with a quantitative approach

    Directory of Open Access Journals (Sweden)

    De Pina-Neto João M.

    1999-01-01

    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.

  12. Development of E-Info geneca: a website providing computer-tailored information and question prompt prior to breast cancer genetic counseling.

    NARCIS (Netherlands)

    Albada, A.; Dulmen, S. van; Otten, R.; Bensing, J.M.; Ausems, M.G.E.M.

    2009-01-01

    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

  13. Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations

    OpenAIRE

    Nouri, Narges; Nouri, Nayereh; Tirgar, Samane; Soleimani, Elham; Yazdani, Vida; Zahedi, Farzaneh; Larijani, Bagher

    2017-01-01

    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 orde...

  14. Improved health perception after genetic counselling for women at high risk of breast and/or ovarian cancer: construction of new questionnaires--an Italian exploratory study.

    Science.gov (United States)

    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

    2016-03-01

    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

  15. Design of a randomized trial of diabetes genetic risk testing to motivate behavior change: the Genetic Counseling/lifestyle Change (GC/LC) Study for Diabetes Prevention.

    Science.gov (United States)

    Grant, Richard W; Meigs, James B; Florez, Jose C; Park, Elyse R; Green, Robert C; Waxler, Jessica L; Delahanty, Linda M; O'Brien, Kelsey E

    2011-10-01

    The efficacy of diabetes genetic risk testing to motivate behavior change for diabetes prevention is currently unknown. This paper presents key issues in the design and implementation of one of the first randomized trials (The Genetic Counseling/Lifestyle Change (GC/LC) Study for Diabetes Prevention) to test whether knowledge of diabetes genetic risk can motivate patients to adopt healthier behaviors. Because individuals may react differently to receiving 'higher' vs 'lower' genetic risk results, we designed a 3-arm parallel group study to separately test the hypotheses that: (1) patients receiving 'higher' diabetes genetic risk results will increase healthy behaviors compared to untested controls, and (2) patients receiving 'lower' diabetes genetic risk results will decrease healthy behaviors compared to untested controls. In this paper we describe several challenges to implementing this study, including: (1) the application of a novel diabetes risk score derived from genetic epidemiology studies to a clinical population, (2) the use of the principle of Mendelian randomization to efficiently exclude 'average' diabetes genetic risk patients from the intervention, and (3) the development of a diabetes genetic risk counseling intervention that maintained the ethical need to motivate behavior change in both 'higher' and 'lower' diabetes genetic risk result recipients. Diabetes genetic risk scores were developed by aggregating the results of 36 diabetes-associated single nucleotide polymorphisms. Relative risk for type 2 diabetes was calculated using Framingham Offspring Study outcomes, grouped by quartiles into 'higher', 'average' (middle two quartiles) and 'lower' genetic risk. From these relative risks, revised absolute risks were estimated using the overall absolute risk for the study group. For study efficiency, we excluded all patients receiving 'average' diabetes risk results from the subsequent intervention. This post-randomization allocation strategy was

  16. Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease.

    Science.gov (United States)

    Murphy, Erin L; Droher, Madeline L; DiMaio, Miriam S; Dahl, Neera K

    2018-03-30

    Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary forms of chronic kidney disease. Mutations within PKD1 or PKD2 lead to innumerable fluid-filled cysts in the kidneys and in some instances, end-stage renal disease (ESRD). Affected individuals have a 50% chance of passing the mutation to each of their offspring. Assisted reproductive technology using preimplantation genetic diagnosis (PGD) allows these individuals to reduce this risk to 1% to 2%. We assess the disease burden of 8 individuals with ADPKD who have undergone genetic testing in preparation for PGD. Clinical features that predict high risk for progression to ESRD in patients with ADPKD include genotype, early onset of hypertension, a urologic event before age 35 years, and a large height-adjusted total kidney volume. Patients may have a family history of intracranial aneurysms or complications involving hepatic cysts, which may further influence the decision to pursue PGD. We also explore the cost, risks, and benefits of using PGD. All patients with ADPKD of childbearing potential, regardless of risk for progression to ESRD or risk for a significant disease burden, will likely benefit from genetic counseling. Copyright © 2018 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  17. "I do not want my baby to suffer as I did"; prenatal and preimplantation genetic diagnosis for BRCA1/2 mutations: a case report and genetic counseling considerations.

    Science.gov (United States)

    Dagan, Efrat; Gershoni-Baruch, Ruth; Kurolap, Alina; Goldberg, Yael; Fried, Georgeta

    2014-07-01

    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.

  18. Effect of routine assessment of specific psychosocial problems on personalized communication, counselors’ awareness, and distress levels in cancer genetic counseling practice: a randomized controlled trial.

    Science.gov (United States)

    Eijzenga, Willem; Aaronson, Neil K; Hahn, Daniela E E; Sidharta, Grace N; van der Kolk, Lizet E; Velthuizen, Mary E; Ausems, Margreet G E M; Bleiker, Eveline M A

    2014-09-20

    This study evaluated the efficacy of a cancer genetics–specific questionnaire in facilitating communication about, awareness of, and management of psychosocial problems, as well as in lowering distress levels. Individuals referred to genetic counseling for cancer at two family cancer clinics in The Netherlands were randomly assigned to an intervention or a control group. All participants completed the psychosocial questionnaire before counseling. In the intervention group, the counselors received the results of this questionnaire before the counseling session. All sessions were audiotaped for content analysis. Primary outcomes were the frequency with which psychosocial problems were discussed, the genetic counselors’ awareness of these problems, and their management. Secondary outcomes included cancer worries and psychological distress, duration and dynamics of the counseling, and satisfaction. The frequency with which psychosocial problems were discussed with 246 participating counselees was significantly higher in the intervention group (n = 127) than in the control group (n =119; P = .004), as was the counselors’ awareness of psychosocial problems regarding hereditary predisposition (P cancer (P = .01), and general emotions (P cancer worries (p = .005) and distress (p = .02) after counseling. The routine assessment of psychosocial problems by questionnaire facilitates genetic counselors’ recognition and discussion of their clients’ psychosocial problems and reduces clients’ distress levels.

  19. Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV.

    Science.gov (United States)

    Yuan, Jing; Li, Song; Xu, YeYe; Cong, Lin

    2015-04-02

    Clinical analysis and genetic testing of a family with osteogenesis imperfecta type IV were conducted, aiming to discuss antenatal genetic diagnosis of osteogenesis imperfecta type IV. Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the changes in candidate genes. Genetic testing of the III5 fetus and other family members revealed missense mutation in c.2746G>A, pGly916Arg in COL1A2 gene coding region and missense and synonymous mutation in COL1A1 gene coding region. Application of antenatal genetic diagnosis provides fast and accurate genetic counseling and eugenics suggestions for patients with osteogenesis imperfecta type IV and their families.

  20. Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: protocol for a systematic review.

    Science.gov (United States)

    Zhong, Adrina; Darren, Benedict; Dimaras, Helen

    2017-07-11

    There has been little focus in the literature on how to build genetic testing and counseling services in low- and middle-income countries in a responsible, ethical, and culturally appropriate manner. It is unclear to what extent this area is being explored and what form further research should take. The proposed knowledge synthesis aims to fill this gap in knowledge and mine the existing data to determine the breadth of work in this area and identify ethical, social, and cultural issues that have emerged. An integrated knowledge translation approach will be undertaken by engaging knowledge users throughout the review to ensure relevance to their practice. Electronic databases encompassing various disciplines, such as healthcare, social sciences, and public health, will be searched. Studies that address clinical genetic testing and/or counseling and ethical, social, and/or cultural issues of these genetic services, and are performed in low- and middle-income countries as defined by World Bank will be considered for inclusion. Two independent reviewers will be involved in a two-stage literature screening process, data extraction, and quality appraisal. Studies included in the review will be analyzed by thematic analysis. A narrative synthesis guided by the social ecological model will be used to summarize findings. This systematic review will provide a foundation of evidence regarding ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries. Using the social ecological model as a conceptual framework will facilitate the understanding of broader influences of the sociocultural context on an individual's experience with clinical genetic testing and counseling, thereby informing interdisciplinary sectors in future recommendations for practice and policy. PROSPERO CRD42016042894.

  1. The emotional impact of genetic testing and aspects of counseling prior to prescription of oral contraceptives.

    Science.gov (United States)

    Gartner, Verena; Weber, Michael; Eichinger, Sabine

    2008-11-01

    Oral contraceptives increase the thrombotic risk in women with factor V Leiden. Emotional aspects of genetic testing prior to the prescription of oral contraceptives (OC), aspects of counseling and referral patterns are widely unknown. Two hundred forty-seven women with and 132 women without factor V Leiden were interviewed by questionnaire. One hundred sixty-one women (65%) with factor V Leiden and 63 (48%) with wild-type factor V responded. One hundred seventy-one women (76%) reported being emotionally disturbed by genetic testing. Eighty percent of women with factor V Leiden and 16% of women with wild-type factor V were discouraged from OC use. Three percent of women with factor V Leiden were encouraged to take OC. Forty-one percent of women with factor V Leiden used at least one hormone contraceptive method after diagnosis. Only 46 women (29%) with factor V Leiden were counseled about the relevance of the mutation in case of pregnancy. Testing for factor V Leiden has considerable emotional impact. Recommendations after testing are not consistently driven by the test result.

  2. Discovering misattributed paternity in genetic counselling: different ethical perspectives in two countries.

    Science.gov (United States)

    Tozzo, Pamela; Caenazzo, Luciana; Parker, Michael J

    2014-03-01

    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.

  3. The Perceived Personal Control (PPC) questionnaire as an outcome of genetic counseling: reliability and validity of the instrument.

    NARCIS (Netherlands)

    Smets, E.M.A.; Pieterse, A.H.; Aalfs, C.M.; Ausems, M.G.E.M.; Dulmen, A.M. van

    2006-01-01

    The perceived personal control (PPC) questionnaire was developed by Berkenstadt and colleagues as an outcome measure for the evaluation of the process of genetic counseling. The present study aimed to further assess the psychometric properties of a Dutch version of the instrument. Data were used

  4. Aconselhamento genético Genetic counseling

    Directory of Open Access Journals (Sweden)

    João Monteiro de Pina-Neto

    2008-08-01

    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

  5. Aconselhamento genético do paciente com doença falciforme Genetic counseling in the sickle cell disease

    Directory of Open Access Journals (Sweden)

    Antonio Sérgio Ramalho

    2007-09-01

    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.

  6. Breast Cancer Genetic Counseling: A Surgeon’s Perspective

    Directory of Open Access Journals (Sweden)

    Doreen Marie Agnese

    2016-01-01

    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.

  7. Why is everyone so anxious?: an exploration of stress and anxiety in genetic counseling graduate students.

    Science.gov (United States)

    Jungbluth, Chelsy; Macfarlane, Ian M; Veach, Patricia McCarthy; Leroy, Bonnie S

    2011-06-01

    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.

  8. Psychosocial outcomes and counselee satisfaction following genetic counseling for hereditary breast and ovarian cancer: A patient-reported outcome study.

    Science.gov (United States)

    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

    2016-10-01

    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.

  9. Education and certification of genetic counselors.

    Science.gov (United States)

    Katsichti, L; Hadzipetros-Bardanis, M; Bartsocas, C S

    1999-01-01

    Genetic counseling is defined by the American Society of Human Genetics as a communication process which deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family. The first graduate program (Master's degree) in genetic counseling started in 1969 at Sarah Lawrence College, NY, USA, while in 1979 the National Society of Genetic Counseling (NSGC) was established. Today, there are 29 programs in U.S.A. offering a Master's degree in Genetic Counseling, five programs in Canada, one in Mexico, one in England and one in S. Africa. Most of these graduate programs offer two year training, consisting of graduate courses, seminars, research and practical training. Emphasis is given in human physiology, biochemistry, clinical genetics, cytogenetics, molecular and biochemical genetics, population genetics and statistics, prenatal diagnosis, teratology and genetic counseling in relation to psychosocial and ethical issues. Certification for eligible candidates is available through the American Board of Medical Genetics (ABMG). Requirements for certification include a master's degree in human genetics, training at sites accredited by the ABMG, documentation of genetic counseling experience, evidence of continuing education and successful completion of a comprehensive ABMG certification examination. As professionals, genetic counselors should maintain expertise, should insure mechanisms for professional advancement and should always maintain the ability to approach their patients.

  10. Short communication: Genetic lag represents commercial herd genetic merit more accurately than the 4-path selection model.

    Science.gov (United States)

    Dechow, C D; Rogers, G W

    2018-05-01

    Expectation of genetic merit in commercial dairy herds is routinely estimated using a 4-path genetic selection model that was derived for a closed population, but commercial herds using artificial insemination sires are not closed. The 4-path model also predicts a higher rate of genetic progress in elite herds that provide artificial insemination sires than in commercial herds that use such sires, which counters other theoretical assumptions and observations of realized genetic responses. The aim of this work is to clarify whether genetic merit in commercial herds is more accurately reflected under the assumptions of the 4-path genetic response formula or by a genetic lag formula. We demonstrate by tracing the transmission of genetic merit from parents to offspring that the rate of genetic progress in commercial dairy farms is expected to be the same as that in the genetic nucleus. The lag in genetic merit between the nucleus and commercial farms is a function of sire and dam generation interval, the rate of genetic progress in elite artificial insemination herds, and genetic merit of sires and dams. To predict how strategies such as the use of young versus daughter-proven sires, culling heifers following genomic testing, or selective use of sexed semen will alter genetic merit in commercial herds, genetic merit expectations for commercial herds should be modeled using genetic lag expectations. Copyright © 2018 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  11. Effect of routine assessment of specific psychosocial problems on personalized communication, counselors' awareness, and distress levels in cancer genetic counseling practice: a randomized controlled trial

    NARCIS (Netherlands)

    Eijzenga, W.; Aaronson, N.K.; Hahn, D.E.E.; Sidharta, G.N.; van der Kolk, L.E.; Velthuizen, M.E.; Ausems, M.G.E.M.; Bleiker, E.M.A.

    2014-01-01

    Purpose: This study evaluated the efficacy of a cancer genetics-specific questionnaire in facilitating communication about, awareness of, and management of psychosocial problems, as well as in lowering distress levels. Methods: Individuals referred to genetic counseling for cancer at two family

  12. Acceptance of Referral for Cancer-Risk Counseling in Population of Women Undergoing Breast Biopsy: Variables Predicting Followup at a Cancer Genetics Program

    National Research Council Canada - National Science Library

    O'Neill, Suzanne

    2001-01-01

    ..., Shattuck-Eidens, Frank, and BRCAPRO models. Questionnaires assessing psychological status, and knowledge and attitudes about breast cancer, cancer risk counseling, and genetic testing were used to identify predictors of referral uptake...

  13. A counselee-oriented perspective on risk communication in genetic counseling : Explaining the inaccuracy of the counselees' risk perception shortly after BRCA1/2 test result disclosure

    NARCIS (Netherlands)

    Vos, Joel; Stiggelbout, Anne M.; Oosterwijk, Jan; Gomez-Garcia, Encarna; Menko, Fred; Collee, J. Margriet; van Asperen, Christi J.; Tibben, Aad

    Purpose: Genetic counseling may help counselees understand their genetic risk of developing breast/ovarian cancer. However, many studies have shown that their perception of their risks is inaccurate. Information-oriented variables often predicted the level of accuracy, focusing on specific processes

  14. Design of the BRISC study: a multicentre controlled clinical trial to optimize the communication of breast cancer risks in genetic counselling

    NARCIS (Netherlands)

    Ockhuysen-Vermey, C.F.; Henneman, L.; van Asperen, C.J.; Oosterwijk, J.C.; Menko, F.H.; Timmermans, D.R.M.

    2008-01-01

    Background: Understanding risks is considered to be crucial for informed decision-making. Inaccurate risk perception is a common finding in women with a family history of breast cancer attending genetic counseling. As yet, it is unclear how risks should best be communicated in clinical practice.

  15. Design of the BRISC study : a multicentre controlled clinical trial to optimize the communication of breast cancer risks in genetic counselling

    NARCIS (Netherlands)

    Ockhuysen-Vermey, Caroline F.; Henneman, Lidewij; van Asperen, Christi J.; Oosterwijk, Jan C.; Menko, Fred H.; Timmermans, Danielle R. M.

    2008-01-01

    Background: Understanding risks is considered to be crucial for informed decision-making. Inaccurate risk perception is a common finding in women with a family history of breast cancer attending genetic counseling. As yet, it is unclear how risks should best be communicated in clinical practice.

  16. Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral.

    Science.gov (United States)

    Bellcross, Cecelia A; Leadbetter, Steven; Alford, Sharon Hensley; Peipins, Lucy A

    2013-04-01

    In 2005, the United States Preventive Services Task Force (USPSTF) released guidelines which outlined specific family history patterns associated with an increased risk for BRCA1/2 mutations, and recommended at-risk individuals be referred for genetic counseling and evaluation for BRCA testing. The purpose of this study was to assess the prevalence of individuals with a USPSTF increased-risk family history pattern, the frequency with which specific patterns were met, and resulting healthcare actions among women from the Henry Ford Health System. As part of a study evaluating ovarian cancer risk perception and screening, 2,524 randomly selected participants completed a detailed interview (response rate 76%) from an initial eligible cohort of 16,720 women. Approximately 6% of participants had a family history fulfilling one or more of the USPSTF patterns. Although 90% of these women had shared their family history with their provider, less than 20% had been referred for genetic counseling and only 8% had undergone genetic testing. Caucasian women with higher income and education levels were more likely to receive referrals. Among the 95 participants in the total study cohort who reported BRCA testing, 78% did not have a family history that met one of the USPSTF patterns. These results suggest a higher prevalence of women with an increased-risk family history than originally predicted by the USPSTF, and lack of provider recognition and referral for genetic services. Improvements in healthcare infrastructure and clinician education will be required to realize population level benefits from BRCA genetic counseling and testing.

  17. Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase.

    Science.gov (United States)

    Rose, E; Schreiber-Agus, N; Bajaj, K; Klugman, S; Goldwaser, T

    2016-02-01

    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.

  18. Genetic Counseling in Mental Retardation.

    Science.gov (United States)

    Bowen, Peter

    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…

  19. Accurate recapture identification for genetic mark–recapture studies with error-tolerant likelihood-based match calling and sample clustering

    Science.gov (United States)

    Sethi, Suresh; Linden, Daniel; Wenburg, John; Lewis, Cara; Lemons, Patrick R.; Fuller, Angela K.; Hare, Matthew P.

    2016-01-01

    Error-tolerant likelihood-based match calling presents a promising technique to accurately identify recapture events in genetic mark–recapture studies by combining probabilities of latent genotypes and probabilities of observed genotypes, which may contain genotyping errors. Combined with clustering algorithms to group samples into sets of recaptures based upon pairwise match calls, these tools can be used to reconstruct accurate capture histories for mark–recapture modelling. Here, we assess the performance of a recently introduced error-tolerant likelihood-based match-calling model and sample clustering algorithm for genetic mark–recapture studies. We assessed both biallelic (i.e. single nucleotide polymorphisms; SNP) and multiallelic (i.e. microsatellite; MSAT) markers using a combination of simulation analyses and case study data on Pacific walrus (Odobenus rosmarus divergens) and fishers (Pekania pennanti). A novel two-stage clustering approach is demonstrated for genetic mark–recapture applications. First, repeat captures within a sampling occasion are identified. Subsequently, recaptures across sampling occasions are identified. The likelihood-based matching protocol performed well in simulation trials, demonstrating utility for use in a wide range of genetic mark–recapture studies. Moderately sized SNP (64+) and MSAT (10–15) panels produced accurate match calls for recaptures and accurate non-match calls for samples from closely related individuals in the face of low to moderate genotyping error. Furthermore, matching performance remained stable or increased as the number of genetic markers increased, genotyping error notwithstanding.

  20. Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? Results from a randomized clinical trial

    NARCIS (Netherlands)

    Wevers, M.R.; Ausems, M.G.E.M.; Verhoef, S.; Bleiker, E.M.A.; Hahn, D.E.E.; Brouwer, T.; Hogervorst, F.B.L.; van der Luijt, R.B.; van Dalen, T.; Theunissen, E.B.; van Ooijen, B.; de Roos, M.A.; Borgstein, P.J.; Vrouenraets, B.C.; Vriens, E.; Bouma, W.H.; Rijna, H.; Vente, J.P.; Kieffer, J.M.; Valdimarsdottir, H.B.; Rutgers, E.J.Th.; Witkamp, A.J.; Aaronson, N.K.

    2016-01-01

    Purpose: Female breast cancer patients carrying a BRCA1/2 mutation have an increased risk of second primary breast cancer. Rapid genetic counseling and testing (RGCT) before surgery may influence choice of primary surgical treatment. In this article, we report on the psychosocial impact of RGCT.

  1. Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

    Science.gov (United States)

    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

    2016-07-01

    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.

  2. Genetic Counselling, BRCA1/2 Status and Clinico-pathologic Characteristics of Patients with Ovarian Cancer before 50 Years of Age

    Science.gov (United States)

    Cvelbar, Mirjam; Hocevar, Marko; Novakovic, Srdjan; Stegel, Vida; Perhavec, Andraz

    2017-01-01

    Abstract Background In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m) within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years. Patients and methods All clinical data have to be interpreted in the light of many changes happened in the field of EOC just in the last few years: new hystology stage classification (FIGO), new hystology types and differentiation grades classification, new therapeutic possibilities (PARP inhibitors available, also in Slovenia) and new guidelines for genetic counselling of EOC patients (National Comprehensive Cancer Network, NCCN), together with next-generation sequencing possibilities. Results Compliance rate at the invitation was 43.1%. In the group of 27 invited or previously tested patients with EOC diagnosed before the age of 45 years, five gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within the group was 18.5%. There were 4 gBRCA1 and 1 gBRCA2 mutations detected. In the extended group of 42 tested patients with EOC diagnosed before the age of 50 years, 14 gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within this extended, partially selected group was 33.3%. There were 11 gBRCA1 and 3 gBRCA2 mutations detected. Conclusions The rate of gBRCA1/2 mutation in tested unselected EOC patients under the age of 50 years was higher than 10%, namely 18.5%. Considering also a direct therapeuthic benefit of PARP inhibitors for BRCA positive patients, there is a double reason to offer genetic testing to

  3. A importância do aconselhamento genético na anemia falciforme The importance of genetic counseling at sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Cínthia Tavares Leal Guimarães

    2010-06-01

    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

  4. Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings.

    Science.gov (United States)

    Cook, Lola; Schulze, Jeanine

    2017-12-01

    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.

  5. Cancer Genetics Services Directory

    Science.gov (United States)

    ... 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, ...

  6. [The physician's role in various clinical contexts. Physician counseling on in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD)].

    Science.gov (United States)

    Kentenich, H; Tandler-Schneider, A

    2012-09-01

    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.

  7. Genetic counselling in the beta-thalassaemias

    Directory of Open Access Journals (Sweden)

    Adonis S. Ioannides

    2013-03-01

    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.

  8. Basic concepts of medical genetics, formal genetics, Part 1

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2013-11-15

    Nov 15, 2013 ... maps of gene loci based on information gathered, formerly, ... represented as figure or text interface data. Relevant ... The Egyptian Journal of Medical Human Genetics ... prophylactic management and genetic counseling. 17.

  9. Using the Genetics Home Reference Website | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Genetics 101 Using the Genetics Home Reference Website Past Issues / Summer 2013 Table ... as the GHR website keeps growing. What Is Genetic Counseling? Genetic counseling provides information and support to ...

  10. Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families

    Science.gov (United States)

    Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

    2018-01-01

    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

  11. High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling.

    Science.gov (United States)

    Sie, Aisha S; Spruijt, Liesbeth; van Zelst-Stams, Wendy A G; Mensenkamp, Arjen R; Ligtenberg, Marjolijn J L; Brunner, Han G; Prins, Judith B; Hoogerbrugge, Nicoline

    2016-06-01

    According to standard practice following referral to clinical genetics, most high risk breast cancer (BC) patients in many countries receive face-to-face genetic counseling prior to BRCA-mutation testing (DNA-intake). We evaluated a novel format by prospective study: replacing the intake consultation with telephone, written and digital information sent home. Face-to-face counseling then followed BRCA-mutation testing (DNA-direct). One year after BRCA-result disclosure, 108 participants returned long-term follow-up questionnaires, of whom 59 (55 %) had previously chosen DNA-direct (intervention) versus DNA-intake (standard practice i.e., control: 45 %). Questionnaires assessed satisfaction and psychological distress. All participants were satisfied and 85 % of DNA-direct participants would choose this procedure again; 10 % would prefer DNA-intake and 5 % were undecided. In repeated measurements ANOVA, general distress (GHQ-12, p = 0.01) and BC-specific distress (IES-bc, p = 0.03) were lower in DNA-direct than DNA-intake at all time measurements. Heredity-specific distress (IES-her) did not differ significantly between groups. Multivariate regression analyses showed that choice of procedure did not significantly contribute to either general or heredity-specific distress. BC-specific distress (after BC diagnosis) did contribute to both general and heredity-specific distress. This suggests that higher distress scores reflected BC experience, rather than the type of genetic diagnostic procedure. In conclusion, the large majority of BC patients that used DNA-direct reported high satisfaction without increased distress both in the short term, and 1 year after conclusion of genetic testing.

  12. Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

    Science.gov (United States)

    Lenarduzzi, S; Vozzi, D; Morgan, A; Rubinato, E; D'Eustacchio, A; Osland, T M; Rossi, C; Graziano, C; Castorina, P; Ambrosetti, U; Morgutti, M; Girotto, G

    2015-02-01

    Usher syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, sensorineural hearing loss and, in some cases, vestibular dysfunction. The disorder is clinically and genetically heterogeneous and, to date, mutations in 11 genes have been described. This finding makes difficult to get a precise molecular diagnosis and offer patients accurate genetic counselling. To overcome this problem and to increase our knowledge of the molecular basis of Usher syndrome, we designed a targeted resequencing custom panel. In a first validation step a series of 16 Italian patients with known molecular diagnosis were analysed and 31 out of 32 alleles were detected (97% of accuracy). After this step, 31 patients without a molecular diagnosis were enrolled in the study. Three out of them with an uncertain Usher diagnosis were excluded. One causative allele was detected in 24 out 28 patients (86%) while the presence of both causative alleles characterized 19 patients out 28 (68%). Sixteen novel and 27 known alleles were found in the following genes: USH2A (50%), MYO7A (7%), CDH23 (11%), PCDH15 (7%) and USH1G (2%). Overall, on the 44 patients the protocol was able to characterize 74 alleles out of 88 (84%). These results suggest that our panel is an effective approach for the genetic diagnosis of Usher syndrome leading to: 1) an accurate molecular diagnosis, 2) better genetic counselling, 3) more precise molecular epidemiology data fundamental for future interventional plans. Copyright © 2014 Elsevier B.V. All rights reserved.

  13. Exploration of transitional life events in individuals with Friedreich ataxia: Implications for genetic counseling

    Directory of Open Access Journals (Sweden)

    Farmer Jennifer M

    2010-10-01

    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

  14. What would you say? Genetic counseling graduate students' and counselors' hypothetical responses to patient requested self-disclosure.

    Science.gov (United States)

    Redlinger-Grosse, Krista; Veach, Patricia McCarthy; MacFarlane, Ian M

    2013-08-01

    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.

  15. GENETIC HETEROGENEITY OF BETA GLOBIN MUTATIONS AMONG ASIAN-INDIANS AND IMPORTANCE IN GENETIC COUNSELLING AND DIAGNOSIS

    Directory of Open Access Journals (Sweden)

    Ravindra Kumar

    2013-01-01

    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.

  16. Recent advances in preimplantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Kahraman S

    2015-04-01

    Full Text Available Semra Kahraman, Çağri Beyazyürek, Hüseyin Avni Taç, Caroline Pirkevi, Murat Cetinkaya, Neşe Gülüm IVF and Reproductive Genetics Center, Istanbul Memorial Hospital, Istanbul, Turkey Abstract: Preimplantation genetic diagnosis (PGD is an important method for the identification chromosomal abnormalities and genes responsible for genetic defects in embryos that are created through in vitro fertilization before pregnancy. As the list of conditions and indications for PGD testing is continuing to extend enormously, novel in vitro fertilization techniques and newly established genetic analysis techniques have been implemented in clinical settings in the recent years. Blastocyst-stage biopsy, vitrification techniques, time-lapse imaging, whole-genome amplification, array-based diagnostic techniques, and next-generation sequencing techniques are promising techniques for the accurate diagnosis of diverse genetic conditions and also for the selection of the best embryo that has the highest implantation capacity. The timing and technique used for biopsy, the amplification techniques, the genetic diagnosis techniques, and appropriate genetic counseling play important roles in establishing a successful PGD. In this review, those key points of PGD will be reviewed in detail. Keywords: preimplantation genetic diagnosis, array comparative genomic hybridization, single-nucleotide polymorphism arrays, next-generation sequencing, monogenic disorders, aneuploidy testing 

  17. Genetic Test Reporting and Counseling for Melanoma Risk in Minors May Improve Sun Protection Without Inducing Distress.

    Science.gov (United States)

    Stump, Tammy K; Aspinwall, Lisa G; Kohlmann, Wendy; Champine, Marjan; Hauglid, Jamie; Wu, Yelena P; Scott, Emily; Cassidy, Pamela; Leachman, Sancy A

    2018-01-19

    Genetic testing of minors is advised only for conditions in which benefits of early intervention outweigh potential psychological harms. This study investigated whether genetic counseling and test reporting for the CDKN2A/p16 mutation, which confers highly elevated melanoma risk, improved sun protection without inducing distress. Eighteen minors (M age  = 12.4, SD = 1.9) from melanoma-prone families completed measures of protective behavior and distress at baseline, 1 week (distress only), 1 month, and 1 year following test disclosure. Participants and their mothers were individually interviewed on the psychological and behavioral impact of genetic testing 1 month and 1 year post-disclosure. Carriers (n = 9) and noncarriers (n = 9) reported significantly fewer sunburns and a greater proportion reported sun protection adherence between baseline and 1 year post-disclosure; results did not vary by mutation status. Anxiety symptoms remained low post-disclosure, while depressive symptoms and cancer worry decreased. Child and parent interviews corroborated these findings. Mothers indicated that genetic testing was beneficial (100%) because it promoted risk awareness (90.9%) and sun protection (81.8%) without making their children scared (89.9%); several noted their child's greater independent practice of sun protection (45.4%). In this small initial study, minors undergoing CDKN2A/p16 genetic testing reported behavioral improvements and consistently low distress, suggesting such testing may be safely implemented early in life, allowing greater opportunity for risk-reducing lifestyle changes.

  18. Cancer genetics education in a low- to middle-income country: evaluation of an interactive workshop for clinicians in Kenya.

    Directory of Open Access Journals (Sweden)

    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.

  19. Cancer genetics education in a low- to middle-income country: evaluation of an interactive workshop for clinicians in Kenya.

    Science.gov (United States)

    Hill, Jessica A; Lee, Su Yeon; Njambi, Lucy; Corson, Timothy W; Dimaras, Helen

    2015-01-01

    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.

  20. The psychological complexity of predictive testing for late onset neurogenetic diseases and hereditary cancers: implications for multidisciplinary counselling and for genetic education.

    Science.gov (United States)

    Evers-Kiebooms, G; Welkenhuysen, M; Claes, E; Decruyenaere, M; Denayer, L

    2000-09-01

    Increasing knowledge about the human genome has resulted in the availability of a steadily increasing number of predictive DNA-tests for two major categories of diseases: neurogenetic diseases and hereditary cancers. The psychological complexity of predictive testing for these late onset diseases requires careful consideration. It is the main aim of the present paper to describe this psychological complexity, which necessitates an adequate and systematic multidisciplinary approach, including psychological counselling, as well as ongoing education of professionals and of the general public. Predictive testing for neurogenetic diseases--in an adequate counselling context--so far elicits optimism regarding the short- and mid-term impact of the predictive test result. The psychosocial impact has been most widely studied for Huntington's disease. Longitudinal studies are of the utmost importance in evaluating the long-term impact of predictive testing for neurogenetic diseases on the tested person and his/her family. Given the more recent experience with predictive DNA-testing for hereditary cancers, fewer published scientific data are available. Longitudinal research on the mid- and long-term psychological impact of the predictive test result is essential. Decision making regarding health surveillance or preventive surgery after being detected as a carrier of one of the relevant mutations should receive special attention. Tailoring the professional approach--inside and outside genetic centres--to the families' needs is a continuous challenge. Even if a continuous effort is made, several important questions remain unanswered, last but not least the question regarding the best strategy to guarantee that the availability of predictive genetic testing results in a reduction of suffering caused by genetic disease and in an improvement of the quality of life of families confronted with genetic disease.

  1. Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues

    Energy Technology Data Exchange (ETDEWEB)

    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)

    1993-01-01

    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.

  2. Psychological impact of genetic counseling for hereditary nonpolyposis colorectal cancer: the role of cancer history, gender, age, and psychological distress.

    Science.gov (United States)

    Hasenbring, Monika I; Kreddig, Nina; Deges, Gabriele; Epplen, Joerg T; Kunstmann, Erdmute; Stemmler, Susanne; Schulmann, Karsten; Willert, Joerg; Schmiegel, Wolf

    2011-04-01

    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.

  3. Negligence and the communication of neonatal genetic information to parents.

    Science.gov (United States)

    Fay, Michael

    2012-01-01

    It is inevitable that neonatal genetic information will be communicated to parents and a potential for psychiatric injury exists where the communication is negligent. An important question in this regard is whether a health-care provider may owe a duty of care to parents when communicating accurate genetic information, or whether the courts might treat it as merely the receipt of distressing news, which hitherto attracts no liability in English Tort Law. The important role of genetic counselling in this context will likely be determinative in deciding whether communicating accurate genetic information is actionable because it arguably distinguishes the parent-physician relationship from that of messenger-recipient. If communication is accepted as being something more than the receipt of distressing news and is capable of causing 'shock', then parents will need to establish themselves as either primary or secondary victims if claims are to be reconciled with the Alcock paradigm. Claims by parents as secondary victims will be unlikely to succeed because the neonate does not fulfil the role of primary victim, although parents may be owed a duty as elevated primary victims as a result of the lack of an immediate victim. Elevating claimants to primary victim status is not without criticism and may serve to further complicate a difficult area of tort law. Alternatively, it may be open to parents to demonstrate that a duty exists subsequent to an assumption of responsibility, as the provision of genetic counselling during and after neonatal screening is indicative of health-care providers assuming responsibility for the parents' mental health. If parents are able to establish that a duty of care exists, then success of their claims will be determined by reference to breach and causation. The potential difficulties and solutions, particularly with regard to causation, are also briefly considered. It is suggested that breach will likely be determined by reference to a

  4. Evaluation of a nurse-led haemophilia counselling service.

    LENUS (Irish Health Repository)

    O'Shea, Eadaoln

    2012-01-01

    Genetic counselling and testing for females with a family history of haemophilia has long been advocated. However, there is little research in regard to clients\\' satisfaction with the existing counselling models in haemophilia, and in particular with nurse-led clinics. The purpose of this study was to evaluate whether clients were satisfied with a nurse-led carrier testing clinic and counselling service. A retrospective quantitative study of clients\\' satisfaction and perceived knowledge was undertaken using an anonymous questionnaire. A sample of 42 women who had attended the clinic in the last 12 months was identified. The response rate for the study was 71% (n = 30).Two thirds of the respondents were 35 years of age or younger, 93% had a family history of haemophilia and 56% were diagnosed as carriers. Perceived understanding and knowledge increased significantly between the first and second appointments (p < 0.001). Overall, the study identified a high level of client satisfaction with the nurse-led carrier testing clinic and counselling service.

  5. Anxiety and depression among subjects attending genetic counseling for hereditary cancer.

    Science.gov (United States)

    Bjorvatn, Cathrine; Eide, Geir Egil; Hanestad, Berit R; Havik, Odd E

    2008-05-01

    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.

  6. [Group counselling for the second trimester ultrasound: can group counselling be an alternative for individual counselling?].

    Science.gov (United States)

    de Lau, Hinke; Depmann, Martine; Laeven, Yvo J M; Stoutenbeek, Philip H; Pistorius, Lou R; van Beek, Erik; Schuitemaker, Nico W E

    2013-01-01

    To compare group counselling to individual counselling with respect to the second trimester ultrasound. A prospective cohort study at two hospitals. At one hospital, 100 pregnant women were counselled on the risks and benefits of the second trimester ultrasound in groups of up to 15 patients. Shortly before the ultrasound they were asked to fill out a questionnaire. Results were compared to 100 women who were counselled individually at another hospital. The primary outcome was the level of informed choice whether or not to undergo the ultrasound, defined as sufficient knowledge and a value-consistent decision. The secondary outcome measures were level of understanding of the second trimester ultrasound and the degree of satisfaction with the counselling. The resulting level of informed choice was 87.0% after group counselling compared to 79.4% after individual counselling (p = 0.47). The mean knowledge score was 8.8 for the women who attended group counselling; women who were individually counselled had a mean score of 7.4 (p counselling was 7.0 for group counselling and 6.2 for individual counselling (p group counselling was associated with higher post-counselling knowledge and satisfaction scores. Group counselling should therefore be considered as an alternative counselling method.

  7. Genetic counseling in monogenic diabetes GCK MODY.

    Science.gov (United States)

    Skała-Zamorowska, Eliza; Deja, Grażyna; Borowiec, Maciej; Fendler, Wojciech; Małachowska, Beata; Kamińska, Halla; Młynarski, Wojciech; Jarosz-Chobot, Przemysława

    2016-01-01

    Genetic testing in families with monogenic GCK MODY has predictive, diagnostic, and preventive utility. Predictive tests relate to people who have no features of the disorder themselves at the time of testing. Diagnostic tests relate to family members who have been previously diagnosed with diabetes mellitus or glucose metabolism disturbances. The preventive value of genetic testing for families is to raise awareness of the circumstances leading to glucose metabolism disorders. The detection of mutation carriers among family members of patients with GCK MODY and the determination of the clinical significance of the genetic test result. The study group included 27 families of adolescent patients with GCK MODY (39 (75%) of parents and 19 (73.08%) of siblings) monitored in the Department of Pediatrics, Endocrinology and Diabetes and in the Diabetes Clinic of John Paul II Upper Silesian Child Health Centre in Katowice in the years 2007-2012. Subjects underwent a blood sample drawing for genetic and biochemical testing. Through the genetic diagnostics we diagnosed GCK MODY in 14 (63.64%) mothers, 6 (35.29%) fathers and in 7 (36,84%) siblings. Genetic testing has contributed to the detection of 7 (26.92%) asymptomatic carriers of GCK gene mutation among parents and 3 (15,79%) asymptomatic carriers among siblings declaring no carbohydrate metabolism disturbances (before genetic testing there were no indications suggesting carbohydrate metabolism disturbances; OGTT were performed after positive genetic testing). Each case of mutation detection, which is the cause of monogenic diabetes in a patient, justifies the genetic testing in other members of his/her family. Awareness of the genetic status may allow sick family member to confirm the diagnosis, while asymptomatic mutation carriers could benefit from an early clinical observation. Consequently, in each case it gives an opportunity to take diagnostic and therapeutic measures in accordance with the current state of

  8. Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

    Science.gov (United States)

    Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

    2018-01-01

    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.

  9. A case of diprosopus: perinatal counseling and management.

    Science.gov (United States)

    Thornton, Kimberly M; Bennett, Timothy; Singh, Vivekanand; Mardis, Neil; Linebarger, Jennifer; Kilbride, Howard; Voos, Kristin

    2014-01-01

    Diprosopus is a rare congenital malformation associated with high mortality. Here, we describe a patient with diprosopus, multiple life-threatening anomalies, and genetic mutations. Prenatal diagnosis and counseling made a beneficial impact on the family and medical providers in the care of this case.

  10. A Case of Diprosopus: Perinatal Counseling and Management

    OpenAIRE

    Thornton, Kimberly M.; Bennett, Timothy; Singh, Vivekanand; Mardis, Neil; Linebarger, Jennifer; Kilbride, Howard; Voos, Kristin

    2014-01-01

    Diprosopus is a rare congenital malformation associated with high mortality. Here, we describe a patient with diprosopus, multiple life-threatening anomalies, and genetic mutations. Prenatal diagnosis and counseling made a beneficial impact on the family and medical providers in the care of this case.

  11. Examining the impact of genetic testing for type 2 diabetes on health behaviors: study protocol for a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Voils Corrine I

    2012-08-01

    Full Text Available Abstract Background We describe the study design, procedures, and development of the risk counseling protocol used in a randomized controlled trial to evaluate the impact of genetic testing for diabetes mellitus (DM on psychological, health behavior, and clinical outcomes. Methods/Design Eligible patients are aged 21 to 65 years with body mass index (BMI ≥27 kg/m2 and no prior diagnosis of DM. At baseline, conventional DM risk factors are assessed, and blood is drawn for possible genetic testing. Participants are randomized to receive conventional risk counseling for DM with eye disease counseling or with genetic test results. The counseling protocol was pilot tested to identify an acceptable graphical format for conveying risk estimates and match the length of the eye disease to genetic counseling. Risk estimates are presented with a vertical bar graph denoting risk level with colors and descriptors. After receiving either genetic counseling regarding risk for DM or control counseling on eye disease, brief lifestyle counseling for prevention of DM is provided to all participants. Discussion A standardized risk counseling protocol is being used in a randomized trial of 600 participants. Results of this trial will inform policy about whether risk counseling should include genetic counseling. Trial registration ClinicalTrials.gov Identifier NCT01060540

  12. Genetic Testing: MedlinePlus Health Topic

    Science.gov (United States)

    ... Your Family's Health (National Institutes of Health) - PDF Topic Image MedlinePlus Email Updates Get Genetic Testing updates ... testing and your cancer risk Karyotyping Related Health Topics Birth Defects Genetic Counseling Genetic Disorders Newborn Screening ...

  13. A Case of Diprosopus: Perinatal Counseling and Management

    Directory of Open Access Journals (Sweden)

    Kimberly M. Thornton

    2014-01-01

    Full Text Available Diprosopus is a rare congenital malformation associated with high mortality. Here, we describe a patient with diprosopus, multiple life-threatening anomalies, and genetic mutations. Prenatal diagnosis and counseling made a beneficial impact on the family and medical providers in the care of this case.

  14. How Might the Genetics Profession Better Utilize Social Media.

    Science.gov (United States)

    Moore, Rebekah A; Matthews, Anne L; Cohen, Leslie

    2018-04-01

    Social media is a common method of communication in people's personal lives and professional settings. Gallagher et al. (2016) recommended, "it is time for genetic counselors to embrace social media as a means of communicating with patients or other healthcare professionals." Full members of the National Society of Genetic Counselors (NSGC) in the USA and Canada and genetics patients in Cleveland, OH, were surveyed to determine interest in using social media for patient-provider interactions. Both cohorts indicated that patient privacy and confidentiality would be a concern; however, survey results indicated patients would be interested in using social media to receive general information about genetic counseling and to learn about genetics services. Genetic counselors indicated privacy issues were not concerning if social media were to be used in this capacity. The majority of genetic counselor participants (88.7%) indicated they would welcome national guidelines for patient-provider social media use. Data from this study demonstrated that sharing what to expect at a genetic counseling appointment, defining genetic counseling, and announcing community outreach events are possible ways genetic counselors could utilize social media to communicate with and educate patients.

  15. Reproductive Endocrinologists' Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers.

    Science.gov (United States)

    Goetsch, Allison L; Wicklund, Catherine; Clayman, Marla L; Woodruff, Teresa K

    2016-06-01

    Genetic counselors believe fertility preservation and preimplantation genetic diagnosis (PGD) discussions to be a part of their role when counseling BRCA1/2 mutation-positive patients. This study is the first to explore reproductive endocrinologists' (REI) practices and attitudes regarding involvement of genetic counselors in the care of BRCA1/2 mutation carriers seeking fertility preservation and PGD. A survey was mailed to 1000 REIs from Reproductive Endocrinology & Infertility (SREI), an American Society for Reproductive Medicine (ASRM) affiliate group. A 14.5 % response rate was achieved; data was analyzed using SPSS software. The majority of participating REIs were found to recommend genetic counseling to cancer patients considering fertility preservation (82 %) and consult with a genetic counselor regarding PGD for hereditary cancer syndromes (92 %). Additionally, REIs consult genetic counselors regarding PGD patient counseling (88 %), genetic testing (78 %), and general genetics questions (66 %). Two areas genetic counselors may further aid REIs are: elicitation of family history, which is useful to determine fertility preservation and PGD intervention timing (32 % of REIs utilize a cancer family history to determine intervention timing); and, interpretation of variants of uncertain significance (VOUS) as cancer panel genetic testing becomes more common (36 % of REIs are unfamiliar with VOUS). Given our findings, the Oncofertility Consortium® created an online resource for genetic counselors focused on fertility preservation education and communication strategies.

  16. Reproductive Endocrinologists’ Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers

    Science.gov (United States)

    Goetsch, Allison L.; Wicklund, Catherine; Clayman, Marla L.; Woodruff, Teresa K.

    2016-01-01

    Genetic counselors believe fertility preservation and preimplantation genetic diagnosis (PGD) discussions to be a part of their role when counseling BRCA1/2 mutation-positive patients. This study is the first to explore reproductive endocrinologists’ (REI) practices and attitudes regarding involvement of genetic counselors in the care of BRCA1/2 mutation carriers seeking fertility preservation and PGD. A survey was mailed to 1000 REIs from Reproductive Endocrinology & Infertility (SREI), an American Society for Reproductive Medicine (ASRM) affiliate group. A 14.5 % response rate was achieved; data was analyzed using SPSS software. The majority of participating REIs were found to recommend genetic counseling to cancer patients considering fertility preservation (82 %) and consult with a genetic counselor regarding PGD for hereditary cancer syndromes (92 %). Additionally, REIs consult genetic counselors regarding PGD patient counseling (88 %), genetic testing (78 %), and general genetics questions (66 %). Two areas genetic counselors may further aid REIs are: elicitation of family history, which is useful to determine fertility preservation and PGD intervention timing (32 % of REIs utilize a cancer family history to determine intervention timing); and, interpretation of variants of uncertain significance (VOUS) as cancer panel genetic testing becomes more common (36 % of REIs are unfamiliar with VOUS). Given our findings, the Oncofertility Consortium® created an online resource for genetic counselors focused on fertility preservation education and communication strategies. PMID:26567039

  17. Ancestry Testing and the Practice of Genetic Counseling.

    Science.gov (United States)

    Kirkpatrick, Brianne E; Rashkin, Misha D

    2017-02-01

    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.

  18. Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: Design of a multicenter randomized clinical trial

    International Nuclear Information System (INIS)

    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

    2011-01-01

    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

  19. Genetic counseling about cancer in Peru

    OpenAIRE

    Manrique, Javier E.; Dirección de Promoción de la Salud, Prevención y Control Nacional del Cáncer, Instituto Nacional de Enfermedades Neoplásicas. Lima, Perú. Cirujano oncólogo.; Sullcahuamán-Allende, Yasser; Unidad de Genética y Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas. Lima, Perú. médico genetista.; Limache-García, Abel; Dirección de Promoción de la Salud, Prevención y Control Nacional del Cáncer, Instituto Nacional de Enfermedades Neoplásicas. Lima, Perú. enfermero.

    2014-01-01

    Cancer 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 co...

  20. Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues. Progress report

    Energy Technology Data Exchange (ETDEWEB)

    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

    1993-03-01

    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.

  1. Genetic Counseling in Military Hospitals

    Science.gov (United States)

    1987-04-01

    mother allegedly mistreated for preeclampsia at Tripler Army Medical Center could maintain an action for medical malpractice nothwithstanding Feres.1 2...retardation of unknown etiology in a child; - pregnancy in a woman older than age 35; - specific ethnic background suggestive of a high rate of genetic

  2. ESTIMATION OF RECURRENCE RISK AND GENETIC COUNSELLING OF FAMILIES WITH EVIDENCE OF ISOLATED (UNSYNDROMIC CLEFT LIP AND PALATE IN SUCEAVA COUNTY, ROMANIA

    Directory of Open Access Journals (Sweden)

    Crsitian Tudose

    2007-08-01

    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

  3. Application Form for NCI Cancer Genetics Services Directory

    Science.gov (United States)

    Professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, and others) may fill out this application form to be listed in the National Cancer Institute's Cancer Genetics Services Directory.

  4. Inclusion Criteria for NCI Cancer Genetics Services Directory

    Science.gov (United States)

    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.

  5. Factors for Personal Counseling among Counseling Trainees

    Science.gov (United States)

    Byrne, J. Stephen; Shufelt, Brett

    2014-01-01

    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…

  6. Grandmothers as gems of genetic wisdom: exploring South African traditional beliefs about the causes of childhood genetic disorders.

    Science.gov (United States)

    Penn, Claire; Watermeyer, Jennifer; MacDonald, Carol; Moabelo, Colleen

    2010-02-01

    With its diverse cultural and linguistic profile, South Africa provides a unique context to explore contextual influences on the process of genetic counseling. Prior research suggests intergenerational differences regarding models of causation which influence treatment-seeking paths. This pilot study therefore aimed to explore South African traditional beliefs regarding common childhood genetic disorders. Three focus groups were conducted with fifteen grandmothers from different cultural backgrounds in an urban community. Questions pertained to the role of the grandmother, traditional beliefs regarding causes of genetic disorders, explanations of heredity, and prevention and management of genetic disorders. Results indicate a variety of cultural explanations for causes of childhood genetic disorders. These causes can be classified into categories related to lifestyle, behavior, social issues, culture, religion, genetic, and familial causes. Prevention and treatment issues are also highlighted. These findings have implications for genetic counseling practice, which needs to include a greater focus on cultural issues.

  7. Genetics Home Reference: Kleefstra syndrome

    Science.gov (United States)

    ... 5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ... G, Tzioumi D, Sillence DO, Mowat D. Three patients with terminal deletions within the subtelomeric region of chromosome 9q. ...

  8. A rapid genetic counselling and testing in newly diagnosed breast cancer is associated with high rate of risk-reducing mastectomy in BRCA1/2-positive Italian women.

    Science.gov (United States)

    Cortesi, L; Razzaboni, E; Toss, A; De Matteis, E; Marchi, I; Medici, V; Tazzioli, G; Andreotti, A; De Santis, G; Pignatti, M; Federico, M

    2014-01-01

    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.

  9. Genetic heterogeneity of retinitis pigmentosa

    OpenAIRE

    Hartono, Hartono

    2015-01-01

    Genetic heterogeneity is a phenomenon in which a genetic disease can be transmitted by several modes of inheritance. The understanding of genetic heterogeneity is important in giving genetic counselling.The presence of genetic heterogeneity can be explained by the existence of:1.different mutant alleles at a single locus, and2.mutant alleles at different loci affecting the same enzyme or protein, or affecting different enzymes or proteins.To have an overall understanding of genetic heterogene...

  10. Indigenous counseling: A needed area in school counseling in Nigeria

    African Journals Online (AJOL)

    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 ...

  11. Virginia Tech's Cook Counseling Center receives international counseling accreditation

    OpenAIRE

    DeLauder, Rachel

    2010-01-01

    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.

  12. Attitudes and Practices Among Internists Concerning Genetic Testing

    Science.gov (United States)

    Chung, Wendy; Marder, Karen; Shanmugham, Anita; Chin, Lisa J.; Stark, Meredith; Leu, Cheng-Shiun; Appelbaum, Paul S.

    2012-01-01

    Many questions remain concerning whether, when, and how physicians order genetic tests, and what factors are involved in their decisions. We surveyed 220 internists from two academic medical centers about their utilization of genetic testing. Rates of genetic utilizations varied widely by disease. Respondents were most likely to have ordered tests for Factor V Leiden (16.8%), followed by Breast/Ovarian Cancer (15.0%). In the past 6 months, 65% had counseled patients on genetic issues, 44% had ordered genetic tests, 38.5% had referred patients to a genetic counselor or geneticist, and 27.5% had received ads from commercial labs for genetic testing. Only 4.5% had tried to hide or disguise genetic information, and genetic discrimination. Only 53.4% knew of a geneticist/genetic counselor to whom to refer patients. Most rated their knowledge as very/somewhat poor concerning genetics (73.7%) and guidelines for genetic testing (87.1%). Most felt needs for more training on when to order tests (79%), and how to counsel patients (82%), interpret results (77.3%), and maintain privacy (80.6%). Physicians were more likely to have ordered a genetic test if patients inquired about genetic testing (pgenetic counselor to whom to refer patients (pgenetic counselor in the past 6 months, had more comfort counseling patients about testing (pgenetics, larger practices (pgenetic discrimination (pgenetic test was associated with patients inquiring about testing, having referred patients to a geneticist/genetic counselor and knowing how to order tests., These data suggest that physicians recognize their knowledge deficits, and are interested in training. These findings have important implications for future medical practice, research, and education. PMID:22585186

  13. Genetic Issues in Mental Retardation, 1996-1997.

    Science.gov (United States)

    Genetic Issues in Mental Retardation, 1996

    1996-01-01

    This document consists of the first six issues of a newsletter, which discusses current knowledge about and concerns related to genetics and mental retardation. The second issue addresses the problem of genetic discrimination. The third issue considers genetic testing, screening, and counseling. The fourth issue addresses genetic privacy issues.…

  14. Clinical Assessment of Dissociative Identity Disorder among College Counseling Clients

    Science.gov (United States)

    Levy, Benjamin; Swanson, Janine E.

    2008-01-01

    College counseling professionals address a wide range of complex student mental health concerns. Among these, accurately identifying client presentations of dissociative identity disorder (DID) can be especially challenging because students with DID sometimes present as if they are experiencing another problem, such as a mood, anxiety, or…

  15. Non-genetic health professionals' attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer

    NARCIS (Netherlands)

    Douma, Kirsten F. L.; Smets, Ellen M. A.; Allain, Dawn C.

    2016-01-01

    Non-genetic health professionals (NGHPs) have insufficient knowledge of cancer genetics, express educational needs and are unprepared to counsel their patients regarding their genetic test results. So far, it is unclear how NGHPs perceive their own communication skills. This study was undertaken to

  16. 34 CFR 106.36 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-07-01

    ... 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...

  17. How Should Clinicians Counsel a Woman with a Strong Family History of Early-Onset Alzheimer's Disease about Her Pregnancy?

    Science.gov (United States)

    Mapes, Marianna V; O'Brien, Barbara M; King, Louise P

    2017-07-01

    Counseling patients regarding the benefits, harms, and dilemmas of genetic testing is one of the greatest ethical challenges facing reproductive medicine today. With or without test results, clinicians grapple with how to communicate potential genetic risks as patients weigh their reproductive options. Here, we consider a case of a woman with a strong family history of early-onset Alzheimer's disease (EOAD). She is early in her pregnancy and unsure about learning her own genetic status. We address the ethical ramifications of each of her options, which include genetic testing, genetic counseling, and termination versus continuation of the pregnancy. Our analysis foregrounds clinicians' role in helping to ensure autonomous decision making as the patient reflects on these clinical options in light of her goals and values. © 2017 American Medical Association. All Rights Reserved.

  18. Cancer Genetics Overview (PDQ®)—Health Professional Version

    Science.gov (United States)

    Cancer Genetics Overview discusses hereditary cancers and the role of genetic variants (mutations). Get information about genetic counseling, familial cancer syndromes, genomic sequencing, germline and somatic testing, ethical and legal issues and more in this summary for clinicians.

  19. 45 CFR 618.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-10-01

    ... 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...

  20. 45 CFR 2555.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-10-01

    ... 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...

  1. 32 CFR 196.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-07-01

    ... 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...

  2. Genetic testing and counselling in inherited eye disease

    DEFF Research Database (Denmark)

    Brøndum-Nielsen, Karen; Jensen, Hanne; Timshel, Susanne

    2013-01-01

    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...

  3. Psychology, Counseling Psychology, and Professional Counseling: Shared Roots, Challenges, and Opportunities

    Directory of Open Access Journals (Sweden)

    Peggy Brady-Amoon

    2017-02-01

    Full Text Available Psychology, counseling psychology, and professional counseling are at a crossroad. The growing movement to establish professional counseling as a distinct profession, based on an increasingly narrow definition of professional identity, is particularly relevant to counseling psychologists and professional counselors and has implications for the broader field of psychology. A brief systematic historical analysis of these professional specialties in the U.S. provides the context to examine current challenges, including proposed restriction of master’s level training, licensure or other authorization to practice, and employment to graduates of programs accredited by the Council for the Accreditation of Counseling and Related Educational Programs (CACREP. These restrictions reduce services to the public and threaten the viability of counseling psychology and professional counseling in the U.S. These challenges also have significant implications for counseling psychologists in Europe and internationally given similar efforts. Going beyond a call to action, the article concludes with recommendations for counseling psychologists and allied professionals to address shared challenges, maximize shared opportunities, and foster enhanced intra- and inter-professional collaboration and cooperation.

  4. Counseling activity in single-session online counseling with adolescents: an adherence study.

    Science.gov (United States)

    Chardon, Lydia; Bagraith, Karl S; King, Robert John

    2011-09-01

    While online counseling is increasingly utilized, little is known about what counseling work takes place in the online environment. The aim of this study was to quantify online counseling activity by determining counselors' adherence to the widely used model in which they had been trained. Transcripts (n=85) of online counseling with adolescents were evaluated, using a standardized and psychometrically sound instrument. We found that, while counseling in 53% of transcripts progressed through each of the key stages of counseling, the focus of most sessions was information gathering; and goal exploration and action planning were typically superficial and often absent. Possible reasons for low counseling depth are discussed and recommendations made for the further development of online counseling.

  5. 14 CFR 1253.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-01-01

    ... 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...

  6. 38 CFR 23.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-07-01

    ... 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...

  7. 13 CFR 113.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-01-01

    ... 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...

  8. 24 CFR 3.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-04-01

    ... 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...

  9. 29 CFR 36.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-07-01

    ... 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. 31 CFR 28.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-07-01

    ... 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...

  11. 10 CFR 1042.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-01-01

    ... 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...

  12. 49 CFR 25.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-10-01

    ... 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...

  13. 18 CFR 1317.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-04-01

    ... 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. 22 CFR 146.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-04-01

    ... 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...

  15. 22 CFR 229.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-04-01

    ... 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...

  16. 45 CFR 86.36 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-10-01

    ... 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...

  17. 6 CFR 17.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-01-01

    ... 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...

  18. 10 CFR 5.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-01-01

    ... 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...

  19. Genetic Forms of Epilepsies and other Paroxysmal Disorders

    Science.gov (United States)

    Olson, Heather E.; Poduri, Annapurna; Pearl, Phillip L.

    2016-01-01

    Genetic mechanisms explain the pathophysiology of many forms of epilepsy and other paroxysmal disorders such as alternating hemiplegia of childhood, familial hemiplegic migraine, and paroxysmal dyskinesias. Epilepsy is a key feature of well-defined genetic syndromes including Tuberous Sclerosis Complex, Rett syndrome, Angelman syndrome, and others. There is an increasing number of singe gene causes or susceptibility factors associated with several epilepsy syndromes, including the early onset epileptic encephalopathies, benign neonatal/infantile seizures, progressive myoclonus epilepsies, genetic generalized and benign focal epilepsies, epileptic aphasias, and familial focal epilepsies. Molecular mechanisms are diverse, and a single gene can be associated with a broad range of phenotypes. Additional features, such as dysmorphisms, head size, movement disorders, and family history may provide clues to a genetic diagnosis. Genetic testing can impact medical care and counseling. We discuss genetic mechanisms of epilepsy and other paroxysmal disorders, tools and indications for genetic testing, known genotype-phenotype associations, the importance of genetic counseling, and a look towards the future of epilepsy genetics. PMID:25192505

  20. Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method.

    Science.gov (United States)

    Eden, Martin; Payne, Katherine; Combs, Ryan M; Hall, Georgina; McAllister, Marion; Black, Graeme C M

    2013-08-01

    Technological advances present an opportunity for more people with, or at risk of, developing retinitis pigmentosa (RP) to be offered genetic testing. Valuation of these tests using current evaluative frameworks is problematic since benefits may be derived from diagnostic information rather than improvements in health. This pilot study aimed to explore if contingent valuation method (CVM) can be used to value the benefits of genetic testing for RP. CVM was used to elicit willingness-to-pay (WTP) values for (1) genetic counselling and (2) genetic counselling with genetic testing. Telephone and face-to-face interviews with a purposive sample of individuals with (n=25), and without (n=27), prior experience of RP were used to explore the feasibility and validity of CVM in this context. Faced with a hypothetical scenario, the majority of participants stated that they would seek genetic counselling and testing in the context of RP. Between participant groups, respondents offered similar justifications for stated WTP values. Overall stated WTP was higher for genetic counselling plus testing (median=£524.00) compared with counselling alone (median=£224.50). Between-group differences in stated WTP were statistically significant; participants with prior knowledge of the condition were willing to pay more for genetic ophthalmology services. Participants were able to attach a monetary value to the perceived potential benefit that genetic testing offered regardless of prior experience of the condition. This exploratory work represents an important step towards evaluating these services using formal cost-benefit analysis.

  1. Impact of Physician Training on Diagnosis and Counseling of Overweight and Obese Asian Patients.

    Science.gov (United States)

    Vasudevan, Deepa A; Northrup, Thomas F; Mandayam, Sreedhar; Bamidele, Oluwatosin O; Stotts, Angela L

    2017-06-01

    Obesity is widely underdiagnosed among Asians, due in part to a lack of physician awareness of the modified diagnostic criteria for Asians. This study investigated the effect of a physician training on accurately diagnosing obesity among and providing weight counseling to overweight and obese Asian patients. Physicians (N = 16) from five primary care practices received 1 h of face-to-face training and other reminder resources (e.g., wallet card) describing the guidelines for the diagnosis of overweight/obesity among Asians, as well as weight counseling instruction. Chart reviews of overweight/obese Asian patients were conducted for the 12 months before the training (n = 198) and 3 months following the training (n = 163). Physician race (Asian/non-Asian) and clinic setting (private/academic) were included as outcome moderators. Patients were predominantly male (63.1 %), with a mean age of 46.0 years (SD = 14.9) and an average BMI of 28.2 (SD = 3.8). Across all physicians, 26.8 and 45.1 % of patients were accurately diagnosed as overweight or obese before and after the training, respectively (p Asian patients as overweight or obese were 102 % higher at post-training after accounting for nesting of patients within physicians. Similarly, weight counseling was higher (65.0 %) following training compared to pre-training levels (43.9 %) but failed to reach significance (p = 0.06). Accurate identification and counseling of overweight/obese Asian patients can be improved by education and training. Universal adoption of race-specific guidelines will ensure more successful weight management and reduced morbidity in a rapidly growing Asian population.

  2. Egyptian Journal of Medical Human Genetics

    African Journals Online (AJOL)

    ... and genetic counseling as well as advances in prevention and treatment of genetic disorders. ... Clinical application of genomics and next generation sequencing ... vectors and SIN channels further relieves the limitations of gene therapy ... 3 gene in Malaysian subjects with neovascular age-related macular degeneration ...

  3. Declining Counseling Research in Counseling Psychology Journals: Is the Sky Falling?

    Science.gov (United States)

    Lichtenberg, James W.

    2011-01-01

    Scheel et al. note a rather precipitous decline over the past 30 years in the number and proportion of counseling-related research articles appearing in "Journal of Counseling Psychology" ("JCP") and "The Counseling Psychologist" ("TCP"). Certainly, counseling psychology as a field has changed over its 65-year history, and a great deal of that…

  4. Genetically caused congenital anomalies of reproductive system

    Directory of Open Access Journals (Sweden)

    L. F. Kurilo

    2013-01-01

    Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

  5. Different concepts and models of information for family-relevant genetic findings: comparison and ethical analysis.

    Science.gov (United States)

    Lenk, Christian; Frommeld, Debora

    2015-08-01

    Genetic predispositions often concern not only individual persons, but also other family members. Advances in the development of genetic tests lead to a growing number of genetic diagnoses in medical practice and to an increasing importance of genetic counseling. In the present article, a number of ethical foundations and preconditions for this issue are discussed. Four different models for the handling of genetic information are presented and analyzed including a discussion of practical implications. The different models' ranges of content reach from a strictly autonomous position over self-governed arrangements in the practice of genetic counseling up to the involvement of official bodies and committees. The different models show a number of elements which seem to be very useful for the handling of genetic data in families from an ethical perspective. In contrast, the limitations of the standard medical attempt regarding confidentiality and personal autonomy in the context of genetic information in the family are described. Finally, recommendations for further ethical research and the development of genetic counseling in families are given.

  6. 38 CFR 21.3100 - Counseling.

    Science.gov (United States)

    2010-07-01

    ... 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...

  7. A Group Counseling and Educational Program for Students with Usher's Syndrome.

    Science.gov (United States)

    Vernon, McCay; Hicks, Wanda

    1983-01-01

    Group counseling for secondary students with Usher's syndrome, a genetic condition resulting in hearing impairment at birth and gradual loss of vision, was intended to provide information and opportunities for expression. Results included practical changes in school environment, increased information about deaf-blindness for the students, and help…

  8. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

    Science.gov (United States)

    Chandler, Natalie; Best, Sunayna; Hayward, Jane; Faravelli, Francesca; Mansour, Sahar; Kivuva, Emma; Tapon, Dagmar; Male, Alison; DeVile, Catherine; Chitty, Lyn S

    2018-03-29

    PurposeUnexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management. Postnatally exome sequencing yields high diagnostic rates, but relies on careful phenotyping to interpret genotype results. Here we used a multidisciplinary approach to explore the utility of rapid fetal exome sequencing for prenatal diagnosis using skeletal dysplasias as an exemplar.MethodsParents in pregnancies undergoing invasive testing because of sonographic fetal abnormalities, where multidisciplinary review considered skeletal dysplasia a likely etiology, were consented for exome trio sequencing (both parents and fetus). Variant interpretation focused on a virtual panel of 240 genes known to cause skeletal dysplasias.ResultsDefinitive molecular diagnosis was made in 13/16 (81%) cases. In some cases, fetal ultrasound findings alone were of sufficient severity for parents to opt for termination. In others, molecular diagnosis informed accurate prediction of outcome, improved parental counseling, and enabled parents to terminate or continue the pregnancy with certainty.ConclusionTrio sequencing with expert multidisciplinary review for case selection and data interpretation yields timely, high diagnostic rates in fetuses presenting with unexpected skeletal abnormalities. This improves parental counseling and pregnancy management.Genetics in Medicine advance online publication, 29 March 2018; doi:10.1038/gim.2018.30.

  9. 7 CFR 15a.36 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-01-01

    ... 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...

  10. [Analysis of 14 individuals who requested predictive genetic testing for hereditary neuromuscular diseases].

    Science.gov (United States)

    Yoshida, Kunihiro; Tamai, Mariko; Kubota, Takeo; Kawame, Hiroshi; Amano, Naoji; Ikeda, Shu-ichi; Fukushima, Yoshimitsu

    2002-02-01

    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

  11. Online Counseling: Reviewing the Literature from a Counseling Psychology Framework

    Science.gov (United States)

    Mallen, Michael J.; Vogel, David L.; Rochlen, Aaron B.; Day, Susan X.

    2005-01-01

    This article reviews the online-counseling literature with an emphasis on current applications and considerations for future research. It focuses on primary themes of counseling psychology including the history of process-outcome research and multiculturalism. It explores current gaps in the literature from a counseling psychology framework,…

  12. Introduction to the Major Contribution: Counseling Psychology and Online Counseling

    Science.gov (United States)

    Mallen, Michael J.; Vogel, David L.

    2005-01-01

    This article introduces the Major Contribution, which focuses on online counseling. Several acronyms and terms are presented to familiarize the reader with distance-communication technology, including a definition of online counseling. The authors show how counseling psychology provides a framework for specific questions related to the theory,…

  13. The Ghosts of Counseling Psychology: Is Counseling Research Really Dead?

    Science.gov (United States)

    Murdock, Nancy L.

    2011-01-01

    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…

  14. Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

    Directory of Open Access Journals (Sweden)

    Ryszard Slezak

    2008-04-01

    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.

  15. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Department of Psychiatry, Genetic Testing and Counselling Clinic, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India; Department of Psychiatry, Molecular Genetics Laboratory, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India; Laboratory of Stem Cells and ...

  16. 36 CFR 1211.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-07-01

    ... 36 Parks, Forests, and Public Property 3 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling materials. 1211.425 Section 1211.425 Parks, Forests, and Public Property NATIONAL... Education Programs or Activities Prohibited § 1211.425 Counseling and use of appraisal and counseling...

  17. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Effective counselling and management of retinoblastoma families using genetic information is presently practised in many parts of the world. We studied histopathological, chromosomal and molecular-genetic data of two retinoblastoma patients from India. The two patients, one with bilateral and the other with unilateral ...

  18. Genetic, chromosomal, and syndromic causes of neural tube defects.

    Science.gov (United States)

    Seidahmed, Mohammed Z; Abdelbasit, Omer B; Shaheed, Meeralebbae M; Alhussein, Khalid A; Miqdad, Abeer M; Samadi, Abdulmohsen S; Khalil, Mohammed I; Al-Mardawi, Elham; Salih, Mustafa A

    2014-12-01

    To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions.

  19. Improving diagnosis for congenital cataract by introducing NGS genetic testing.

    Science.gov (United States)

    Musleh, Mohammud; Ashworth, Jane; Black, Graeme; Hall, Georgina

    2016-01-01

    Childhood cataract (CC) has an incidence of 3.5 per 10,000 by age 15 years. Diagnosis of any underlying cause is important to ensure effective and prompt management of multisystem complications, to facilitate accurate genetic counselling and to streamline multidisciplinary care. Next generation sequencing (NGS) has been shown to be effective in providing an underlying diagnosis in 70% of patients with CC in a research setting. This project aimed to integrate NGS testing in CC within six months of presentation and increase the rate of diagnosis. A retrospective case note review was undertaken to define the baseline efficacy of current care in providing a precise diagnosis. Quality improvement methods were used to integrate and optimize NGS testing in clinical care and measure the improvements made. The percentage of children receiving an NGS result within six months increased from 26% to 71% during the project period. The mean time to NGS testing and receiving a report decreased and there was a reduction in variation over the study period. Several patients and families had a change in management or genetic counselling as a direct result of the diagnosis given by the NGS test. The current recommended investigation of patients with bilateral CC is ineffective in identifying a diagnosis. Quality Improvement methods have facilitated successful integration of NGS testing into clinical care, improving time to diagnosis and leading to development of a new care pathway.

  20. Family risk and related education and counseling needs: perceptions of adults with bipolar disorder and siblings of adults with bipolar disorder.

    Science.gov (United States)

    Peay, H L; Hooker, G W; Kassem, L; Biesecker, B B

    2009-03-01

    Genetics and mental health professionals increasingly provide education and counseling related to risk for psychiatric illness, but there is insufficient evidence about patient perceptions and needs to guide such interventions. Affected individuals and relatives may perceive increased family risk and have interest in genetic education and counseling. Our objectives were to explore perceptions of family vulnerability, perceived control, and coping strategies related to familial risk and needs from genetic counseling. Our methods included conducting semi-structured interviews (n = 48) with individuals with bipolar disorder (BPD) and unaffected siblings. Content analysis generated descriptive data that provide guidance for clinical interventions and themes to evaluate in future studies. The results showed that participants perceived increased personal and family risk, attributing BPD to genes and family environment. Causal attributions were often uncertain and at times inconsistent. Participants wished to modify psychiatric risk to relatives, but were uncertain how to do so; despite the uncertainty, most parents reported risk-modification efforts. Efforts to cope with family vulnerability included monitoring and cognitive distancing. Participants endorsed the usefulness of education and psychological support, but described more ambivalence about receiving risk assessment. Educational and supportive interventions around family risk for BPD should focus on perceptions of cause and vulnerability, reproductive decision-making, and early intervention and risk modification in young relatives. Psychological support is an important component. Providers should evaluate patient coping strategies, which could facilitate or hinder genetic counseling interventions, and should not assume interest in quantitative risk assessment. 2009 Wiley-Liss, Inc.

  1. Counseling in teacher education

    DEFF Research Database (Denmark)

    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....... The study is a qualitative questionnaire survey. The “lifeworld” is central, therefore a phenomenological and hermeneutical approach was chosen, where the student’s perception of the counseling is studied. Central themes: Setting of the counseling and progress of the counselingcourse, content and shape...

  2. The withdrawal from oncogenetic counselling and testing for hereditary and familial breast and ovarian cancer. A descriptive study of an Italian sample.

    Science.gov (United States)

    Caruso, Anita; Vigna, Cristina; Maggi, Gabriella; Sega, Fabio Massimo; Cognetti, Francesco; Savarese, Antonella

    2008-11-24

    Oncogenetic counselling is seldom followed through, even when individuals are eligible according to the test criteria. The basic variables which influence the decision to undergo the genetic counselling process are: risk perception, expected benefit or limitations of genetic testing, general psychological distress or cancer-specific distress, lack of trust in one's emotional reactions when faced with negative events, expected level of family support and communications within the family. The aim of this study was to describe the psychosocial variables of an Italian sample that forgoes genetic counselling. From May 2002 to December 2006 a psychological questionnaire was sent out to one hundred and six subjects, who freely requested a first genetic informative consultation, and never asked to have a second visit and the family tree drawn up in order to inquire about their eligibility for genetic testing. Statistical analysis was performed by Pearson chi-square test, t-test and Spearman RHO coefficient. The survey presents a lack of emotional cohesion and structured roles and rules within the family system and a positive correlation between the number of children, anxiety and risk perception. The main reasons for giving up on counselling were a sense that testing was a waste of time and the inability to emotionally handle the negative consequences of the test outcome. The subjects who maintained that test and an early diagnosis were a "waste of time" experienced more anxiety. The study revealed the importance to ac knowledging the whole persona and their family system as well as provide information highlighting usefulness of early diagnosis.

  3. Call for change in prenatal counseling for Down syndrome.

    Science.gov (United States)

    McCabe, Linda L; McCabe, Edward R B

    2012-03-01

    The American Journal of Medical Genetics Part A is to be congratulated for taking a leadership role by publishing a number of papers challenging the status quo of prenatal counseling for Down syndrome and of care for children and adults with Down syndrome. Parents want to know about the future abilities and potential of their fetus with Down syndrome, not simply negative medical information that may be outdated. Those providing counseling and those providing medical care could benefit from contact with individuals with Down syndrome outside the medical context. It is imperative that each person with Down syndrome be viewed as a unique individual with particular talents. Medical care providers should work with parents to help the child or adult with Down syndrome reach his/her goals. Copyright © 2012 Wiley Periodicals, Inc.

  4. Duchenne muscular dystrophy in a developing country: challenges in management and genetic counseling.

    Science.gov (United States)

    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

    2014-01-01

    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.

  5. Trainees versus Staff: Exploring Counseling Outcomes in a College Counseling Center

    Science.gov (United States)

    Ilagan, Guy; Vinson, Mike; Sharp, Julia L.; Havice, Pamela; Ilagan, Jill

    2014-01-01

    Investigators compared counseling outcomes among nonpaid graduate-level trainees and professional staff at a college counseling center. Counseling outcomes for 331 college student participants were measured using the Outcome Questionnaire 45.2 (OQ45.2), employing a pretest--posttest design. The two groups of service providers did not differ…

  6. The 'reformation' of counselling

    Directory of Open Access Journals (Sweden)

    G.A. Lotter

    2001-08-01

    Full Text Available Although the Reformation took place some four hundred years ago, one area in which reformation is really needed today is the counselling of people. Since Wilhelm Wundt started the “study of the mind” in 1879, William James and Sigmund Freud followed and secular psychology gradually has developed to take the “front seat”; hence moving Biblical counselling, which has been practised since the times of the New Testament, to the “back burner”. This development had been going on for the greater part of the 20th century, up to the publication of Competent to Counsel by Jay E. Adams in 1970. In the model for counselling suggested by Adams, the principles of the Reformation of the sixteenth century, Soli Deo Gloria, Soli Scriptura, Soli Fidei, Sola Gratia, etc. were again implemented in assisting and counselling people with personal and interpersonal problems. The epistomological and anthropological approach of secular psychology differs radically from that of Biblical principles, thus necessitating a new “reformation” of counselling. Within this new form counselling, inter alia, implies the following: the Word of God has its rightful place, sin has to be taken seriously and the work of the Holy Spirit should be recognised. In this article it is proposed that the “reformation” of counselling was started by scholars with a Biblical Reformational approach and that this method of counselling followed the parameters of the Reformation of the sixteenth century. This “reformation” developed into a new direction in counselling and still continues today with fascinating new frontiers opening up for Biblical counselling.

  7. 38 CFR 21.7100 - Counseling.

    Science.gov (United States)

    2010-07-01

    ... 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...

  8. Genetic disorders from an endogamous population

    African Journals Online (AJOL)

    Abdulbari Bener

    b Dept. of Evidence for Population Health Unit, School of Epidemiology and Health Sciences, University of Manchester, Manchester, UK ... genetics counseling and screening for the hereditary diseases programme. Results: The ..... Elementary.

  9. The withdrawal from oncogenetic counselling and testing for hereditary and familial breast and ovarian cancer. A descriptive study of an Italian sample

    Directory of Open Access Journals (Sweden)

    Cognetti Francesco

    2008-11-01

    Full Text Available Abstract Background Oncogenetic counselling is seldom followed through, even when individuals are eligible according to the test criteria. The basic variables which influence the decision to undergo the genetic counselling process are: risk perception, expected benefit or limitations of genetic testing, general psychological distress or cancer-specific distress, lack of trust in one's emotional reactions when faced with negative events, expected level of family support and communications within the family. The aim of this study was to describe the psychosocial variables of an Italian sample that forgoes genetic counselling. Methods From May 2002 to December 2006 a psychological questionnaire was sent out to one hundred and six subjects, who freely requested a first genetic informative consultation, and never asked to have a second visit and the family tree drawn up in order to inquire about their eligibility for genetic testing. Statistical analysis was performed by Pearson chi-square test, t-test and Spearman RHO coefficient. Results The survey presents a lack of emotional cohesion and structured roles and rules within the family system and a positive correlation between the number of children, anxiety and risk perception. The main reasons for giving up on counselling were a sense that testing was a waste of time and the inability to emotionally handle the negative consequences of the test outcome. The subjects who maintained that test and an early diagnosis were a "waste of time" experienced more anxiety. Conclusion The study revealed the importance to ac knowledging the whole persona and their family system as well as provide information highlighting usefulness of early diagnosis.

  10. Prenatal genetic counseling: future parents prefer to make decisions together, using professional advice.

    NARCIS (Netherlands)

    Martin, L.; Dulmen, S. van; Spelten, E.; Hutton, E.

    2012-01-01

    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

  11. Genetics of pulmonary hypertension in the clinic.

    Science.gov (United States)

    Girerd, Barbara; Lau, Edmund; Montani, David; Humbert, Marc

    2017-09-01

    Heritable pulmonary arterial hypertension (PAH) is an autosomal dominant disease with incomplete penetrance because of mutations in bone morphogenetic protein receptor-II (BMPR2), activin A receptor type II-like kinase 1, endoglin, caveolin-1, potassium channel subfamily K, member 3, and T-box gene 4 genes. Heritable pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD/PCH) is an autosomal recessive disease because of biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene. The 2015 european society of cardiology (ESC) and european respiratory society (ERS) pulmonary hypertension guidelines recommend genetic counselling and testing to adults and children with PAH or PVOD/PCH as well as in adult relatives at risk of carrying a predisposing mutation. In France, genetic counseling and testing are offered to all patients displaying sporadic or familial form of PAH or PVOD/PCH and to their relatives at high risk of carrying a predisposing mutation. Patients with a heritable form of PAH are younger at diagnosis with a worse hemodynamic and a dismal prognosis. Patients with a heritable form of PVOD/PCH are younger at diagnosis with a worse response to specific PAH therapies. A program to detect PAH in an early phase was offered to all asymptomatic BMPR2 mutation carriers, according to the 2015 ESC/ERS guidelines. Finally, preimplantation genetic diagnosis has been performed in families with a history of BMPR2 mutations. Genetic counseling and testing has to be implemented in pulmonary hypertension centers.

  12. Genetics of ischaemic stroke in young adults

    OpenAIRE

    Terni, Eva; Giannini, Nicola; Brondi, Marco; Montano, Vincenzo; Bonuccelli, Ubaldo; Mancuso, Michelangelo

    2015-01-01

    Background: Stroke may be a clinical expression of several inherited disorders in humans. Recognition of the underlined genetic disorders causing stroke is important for a correct diagnosis, for genetic counselling and, even if rarely, for a correct therapeutic management. Moreover, the genetics of complex diseases such the stroke, in which multiple genes interact with environmental risk factors to increase risk, has been revolutionized by the Genome-Wide Association Study (GWAS) approach. ...

  13. 44 CFR 19.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-10-01

    ... 44 Emergency Management and Assistance 1 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling materials. 19.425 Section 19.425 Emergency Management and Assistance FEDERAL... Basis of Sex in Education Programs or Activities Prohibited § 19.425 Counseling and use of appraisal and...

  14. 28 CFR 54.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-07-01

    ... 28 Judicial Administration 2 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling materials. 54.425 Section 54.425 Judicial Administration DEPARTMENT OF JUSTICE (CONTINUED... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 54.425 Counseling and use of...

  15. Genetics Home Reference: isolated sulfite oxidase deficiency

    Science.gov (United States)

    ... and Management Resources (1 link) GeneReview: Isolated Sulfite Oxidase Deficiency General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

  16. Islamic approach in counseling.

    Science.gov (United States)

    Hanin Hamjah, Salasiah; Mat Akhir, Noor Shakirah

    2014-02-01

    A religious approach is one of the matters emphasized in counseling today. Many researchers find that there is a need to apply the religious element in counseling because religion is important in a client's life. The purpose of this research is to identify aspects of the Islamic approach applied in counseling clients by counselors at Pusat Kaunseling Majlis Agama Islam Negeri Sembilan (PKMAINS). In addition, this research also analyses the Islamic approach applied in counseling at PKMAINS with reference to al-Quran and al-Sunnah. This is a qualitative research in the form of case study at PKMAINS. The main method used in this research is interview. The research instrument used is interview protocol. The respondents in this study include 9 counselors who serve in one of the counseling centers in Malaysia. This study also uses questionnaire as an additional instrument, distributed to 36 clients who receive counseling service at the center. The findings of the study show that the Islamic approach applied in counseling at PKMAINS may be categorized into three main aspects: aqidah (faith), ibadah (worship/ultimate devotion and love for God) and akhlaq (moral conduct). Findings also show that the counseling in these aspects is in line with Islamic teachings as contained in al-Quran and al-Sunnah.

  17. Genetic, chromosomal, and syndromic causes of neural tube defects

    Science.gov (United States)

    Seidahmed, Mohammed Z.; Abdelbasit, Omer B.; Shaheed, Meeralebbae M.; Alhussein, Khalid A.; Miqdad, Abeer M.; Samadi, Abdulmohsen S.; Khalil, Mohammed I.; Al-Mardawi, Elham; Salih, Mustafa A.

    2014-01-01

    Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Results: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. Conclusions: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions. PMID:25551112

  18. 40 CFR 5.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 1 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling materials. 5.425 Section 5.425 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY GENERAL... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 5.425 Counseling and use of...

  19. Molecular biology from bench-to-bedside - which colorectal cancer patients should be referred for genetic counselling and risk assessment

    DEFF Research Database (Denmark)

    Jensen, Lars Henrik; Dysager, Lars; Lindebjerg, Jan

    2010-01-01

    Lynch syndrome is associated with deficiency of the mismatch repair genes MLH1, MSH2, MSH6 or PMS2. However, most MLH1 deficient tumours are sporadic in origin, and they can be identified if harbouring a BRAF V600E mutation or hypermethylation of the MLH1 gene promoter. The aim of this study...... (PMS2 were negative in 29 cases (10%). DNA quality allowed BRAF analysis in 27 of these with 14 mutations and 13 wild-type. DNA quality allowed methylation analysis in 11 of the 13 BRAF wild-type, and all but one were methylated. Subsequently, Lynch syndrome could...... 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...

  20. The New Face of Genetics: Creating A Multimedia Educational Tool for the Twenty-First Century

    Science.gov (United States)

    Fan, Audrey

    In the study of certain genetic conditions, it is important to understand the specific "dysmorphology" associated with them. This describes the unique anatomical manifestations of the genetic condition. Traditionally, students learn about dysmorphology by reading text descriptions or looking at photographs of affected individuals. The New Face of Genetics is a film project that aims to teach students dysmorphology by featuring people who have specific genetic conditions. The goal is to enhance students' understanding of these conditions as well as to impart the humanity and beauty of the people who appear in the film. Students will have the opportunity to see dysmorphic features on the animated human form as well as meet individuals who are living with genetic difference. The target audience includes genetic counseling students and other medical professionals. Three short films were made in this format to demonstrate how this type of educational tool can be made. The featured conditions were Marfan syndrome, Sturge-Weber syndrome and Joubert syndrome. Future work will be carried out by other genetic counseling students who will make additional films based on our templates. A compendium of approximately 20 films will be eventually completed and released to genetic counseling programs and medical schools.

  1. Philosophical counselling: Towards a ‘new approach’ in pastoral care and counselling?

    Directory of Open Access Journals (Sweden)

    Daniel J. Louw

    2011-05-01

    Full Text Available The practice of pastoral counselling was dominated for several decades by the Rogerian techniques of empathetic listening. To a large extent, healing was predominately related to the realm of feelings (the affective dimension. Rational Emotive Therapy opened up other avenues. However, besides Logotherapy, the realm of meaning and its connectedness to world views and ideas (Plato: forms remained uncharted in many theories for pastoral care and counselling. In this article it was argued that philosophical counselling opens up new avenues for pastoral care and counselling. Philosophical counselling probes into the realm of different schemata of interpretation. A model for the making of a spiritual existential analysis was proposed in order to detect the impact of the Christian spiritual schema of interpretation on the dynamics of existential networking.

  2. 38 CFR 21.6100 - Counseling.

    Science.gov (United States)

    2010-07-01

    ... 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...

  3. The perceived impact of the European registration system for genetic counsellors and nurses.

    Science.gov (United States)

    Paneque, Milena; Moldovan, Ramona; Cordier, Christophe; Serra-Juhé, Clara; Feroce, Irene; Pasalodos, Sara; Haquet, Emmanuelle; Lambert, Debby; Bjørnevoll, Inga; Skirton, Heather

    2017-09-01

    The aim of the European Board of Medical Genetics has been to develop and promote academic and professional standards necessary in order to provide competent genetic counselling services. The aim of this study was to explore the impact of the European registration system for genetic nurses and counsellors from the perspectives of those professionals who have registered. Registration system was launched in 2013. A cross-sectional, online survey was used to explore the motivations and experiences of those applying for, and the effect of registration on their career. Fifty-five Genetic Nurses and Counsellors are registered till now, from them, thirty-three agreed to participate on this study. The main motivations for registering were for recognition of their work value and competence (30.3%); due to the absence of a registration system in their own country (15.2%) and the possibility of obtaining a European/international certification (27.3%), while 27.3% of respondents registered to support recognition of the genetic counselling profession. Some participants valued the registration process as an educational activity in its own right, while the majority indicated the greatest impact of the registration process was on their clinical practice. The results confirm that registrants value the opportunity to both confirm their own competence and advance the genetic counselling profession in Europe.

  4. Genetic counselors’ implicit racial attitudes and their relationship to communication

    Science.gov (United States)

    Schaa, Kendra L; Roter, Debra L; Biesecker, Barbara B; Cooper, Lisa A; Erby, Lori H

    2015-01-01

    Objective Implicit racial attitudes are thought to shape interpersonal interactions and may contribute to health care disparities. This study explored the relationship between genetic counselors’ implicit racial attitudes and their communication during simulated genetic counseling sessions. Methods A nationally representative sample of genetic counselors completed a web-based survey that included the Race Implicit Association Test (IAT). A subset of these counselors (n=67) had participated in an earlier study in which they were video recorded counseling Black, Hispanic and non-Hispanic White simulated clients (SC) about their prenatal or cancer risks. The counselors’ IAT scores were related to their session communication through robust regression modeling. Results Genetic counselors showed a moderate to strong pro-White bias on the Race IAT (M=0.41, SD=0.35). Counselors with stronger pro-White bias were rated as displaying lower levels of positive affect (pcommunication (pcommunication in minority client sessions and may contribute to racial disparities in processes of care related to genetic services. PMID:25622081

  5. 43 CFR 41.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-10-01

    ... 43 Public Lands: Interior 1 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling materials. 41.425 Section 41.425 Public Lands: Interior Office of the Secretary of the Interior... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 41.425 Counseling and use of...

  6. Genetics Home Reference: chylomicron retention disease

    Science.gov (United States)

    ... reflexes (hyporeflexia) and a decreased ability to feel vibrations. Related Information What does it mean if a ... Encyclopedia: Malabsorption General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  7. 38 CFR 21.100 - Counseling.

    Science.gov (United States)

    2010-07-01

    ... 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...

  8. 38 CFR 21.7600 - Counseling.

    Science.gov (United States)

    2010-07-01

    ... 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...

  9. Genetic cancer risk assessment in practice

    International Nuclear Information System (INIS)

    Gruber, S.

    2004-01-01

    The advent of genetic testing has made a dramatic impact on the management of individuals with inherited susceptibility to cancer and their relatives. Genetic counsel ing, with or without testing, is warranted when clues to familial cancer are recognized. Today, genetic testing for classic cancer genetic syndromes is now the standard of care, and has been complemented by genetic testing for other situations commonly encountered in clinical practice. Genetic testing for colorectal cancer, breast cancer, kidney cancer, thyroid cancer, melanoma, and pancreatic cancer raise important issues about the parameters for testing. Genetic cancer risk assessment can lead to measurable reductions in morbidity and mortality through strategies that rely on surveillance, chemo prevention, and risk-reducing surgery

  10. Easy calculations of lod scores and genetic risks on small computers.

    Science.gov (United States)

    Lathrop, G M; Lalouel, J M

    1984-01-01

    A computer program that calculates lod scores and genetic risks for a wide variety of both qualitative and quantitative genetic traits is discussed. An illustration is given of the joint use of a genetic marker, affection status, and quantitative information in counseling situations regarding Duchenne muscular dystrophy. PMID:6585139

  11. Co-inheritance of the rare β hemoglobin variants Hb Yaounde, Hb Görwihl and Hb City of Hope with other alterations in globin genes: impact in genetic counseling.

    Science.gov (United States)

    Vinciguerra, Margherita; Passarello, Cristina; Leto, Filippo; Cassarà, Filippo; Cannata, Monica; Maggio, Aurelio; Giambona, Antonino

    2015-04-01

    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.

  12. 38 CFR 21.8100 - Counseling.

    Science.gov (United States)

    2010-07-01

    ... 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...

  13. 38 CFR 21.9580 - Counseling.

    Science.gov (United States)

    2010-07-01

    ... 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...

  14. Genetics Home Reference: 22q13.3 deletion syndrome

    Science.gov (United States)

    ... 5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ... Veltman JA, de Vries BB. Molecular characterisation of patients with subtelomeric 22q ... L, Enns GM, Hoyme HE. Terminal 22q deletion syndrome: a newly recognized cause of ...

  15. 38 CFR 21.3102 - Required counseling.

    Science.gov (United States)

    2010-07-01

    ... 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...

  16. Adventure Counseling as an Adjunct to Group Counseling in Hospital and Clinical Settings

    Science.gov (United States)

    Gillen, Mark C.; Balkin, Richard S.

    2006-01-01

    Adventure counseling has been thought of as a highly specialized application of group counseling skills in a wilderness environment. In fact, adventure counseling is based on a developmental theory of group, can be useful for a variety of clients, and can be thoughtfully integrated into clinical and hospital settings. This article describes the…

  17. 41 CFR 101-4.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-07-01

    ... 41 Public Contracts and Property Management 2 2010-07-01 2010-07-01 true Counseling and use of appraisal and counseling materials. 101-4.425 Section 101-4.425 Public Contracts and Property Management... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 101-4.425 Counseling and use...

  18. Genetic counselors: translating genomic science into clinical practice

    OpenAIRE

    Bennett, Robin L.; Hampel, Heather L.; Mandell, Jessica B.; Marks, Joan H.

    2003-01-01

    In a time of emerging genetic tests and technologies, genetic counselors are faced with the challenge of translating complex genomic data into information that will aid their client’s ability to learn about, understand, make, and cope with decisions relating to genetic diagnoses. The first of two companion articles in this issue examines the role of the genetic counselor, particularly in counseling individuals at risk for or diagnosed with breast cancer, in an era of high-tech health care and...

  19. Pre-counseling education for low literacy women at risk of Hereditary Breast and Ovarian Cancer (HBOC): patient experiences using the Cancer Risk Education Intervention Tool (CREdIT).

    Science.gov (United States)

    Joseph, Galen; Beattie, Mary S; Lee, Robin; Braithwaite, Dejana; Wilcox, Carolina; Metrikin, Maya; Lamvik, Kate; Luce, Judith

    2010-10-01

    The Cancer Risk Education Intervention Tool (CREdIT) is a computer-based (non-interactive) slide presentation designed to educate low-literacy, and ethnically and racially diverse public hospital patients at risk of Hereditary Breast and Ovarian Cancer (HBOC) about genetics. To qualitatively evaluate participants' experience with and perceptions of a genetic education program as an adjunct to genetic counseling, we conducted direct observations of the intervention, semi-structured in person interviews with 11 women who viewed CREdIT, and post-counseling questionnaires with the two participating genetic counselors. Five themes emerged from the analysis of interviews: (1) genetic counseling and testing for breast/ovarian cancer was a new concept; (2) CREdIT's story format was particularly appealing; (3) changes in participants' perceived risk for breast cancer varied; (4) some misunderstandings about individual risk and heredity persisted after CREdIT and counseling; (5) the context for viewing CREdIT shaped responses to the presentation. Observations demonstrated ways to make the information provided in CREdIT and by genetic counselors more consistent. In a post-session counselor questionnaire, counselors' rating of the patient's preparedness before the session was significantly higher for patients who viewed CREdIT prior to their appointments than for other patients. This novel educational tool fills a gap in HBOC education by tailoring information to women of lower literacy and diverse ethnic/racial backgrounds. The tool was well received by interview participants and counselors alike. Further study is needed to examine the varied effects of CREdIT on risk perception. In addition, the implementation of CREdIT in diverse clinical settings and the cultural adaptation of CREdIT to specific populations reflect important areas for future work.

  20. Professional challenges in cancer genetic testing: who is the patient?

    Science.gov (United States)

    Chan-Smutko, Gayun; Patel, Devanshi; Shannon, Kristen M; Ryan, Paula D

    2008-03-01

    In the genetic counseling setting, the health care provider can be challenged by opposing duties to members of the same family: protecting the privacy of the patient identified with a gene mutation and the ethical obligation to warn at-risk relatives. In a situation of nondisclosure between members of a family with a known disease-predisposing mutation, this type of dilemma can present in acute form for the provider who cares for different members of the family. This can hinder effective medical decision making. To minimize this effect, we recommend detailed pretest genetic counseling steps to empower the patient to communicate with their at-risk relatives their intent to pursue testing and willingness to share information. In addition, post-test counseling should reiterate the implications of a positive result for at-risk relatives and conclude with a written summary that patients can share with their family.

  1. Human Genetics. Informational and Educational Materials, Vol. I, No. 1.

    Science.gov (United States)

    National Clearinghouse for Human Genetic Diseases (DHEW/PHS), Rockville, MD.

    This catalogue, prepared by the National Clearinghouse for Human Genetic Diseases, provides educational and informational materials on the latest advances in testing, diagnosing, counseling, and treating individuals with a concern for genetic diseases. The materials include books, brochures, pamphlets, journal articles, audio cassettes,…

  2. Accurate crop classification using hierarchical genetic fuzzy rule-based systems

    Science.gov (United States)

    Topaloglou, Charalampos A.; Mylonas, Stelios K.; Stavrakoudis, Dimitris G.; Mastorocostas, Paris A.; Theocharis, John B.

    2014-10-01

    This paper investigates the effectiveness of an advanced classification system for accurate crop classification using very high resolution (VHR) satellite imagery. Specifically, a recently proposed genetic fuzzy rule-based classification system (GFRBCS) is employed, namely, the Hierarchical Rule-based Linguistic Classifier (HiRLiC). HiRLiC's model comprises a small set of simple IF-THEN fuzzy rules, easily interpretable by humans. One of its most important attributes is that its learning algorithm requires minimum user interaction, since the most important learning parameters affecting the classification accuracy are determined by the learning algorithm automatically. HiRLiC is applied in a challenging crop classification task, using a SPOT5 satellite image over an intensively cultivated area in a lake-wetland ecosystem in northern Greece. A rich set of higher-order spectral and textural features is derived from the initial bands of the (pan-sharpened) image, resulting in an input space comprising 119 features. The experimental analysis proves that HiRLiC compares favorably to other interpretable classifiers of the literature, both in terms of structural complexity and classification accuracy. Its testing accuracy was very close to that obtained by complex state-of-the-art classification systems, such as the support vector machines (SVM) and random forest (RF) classifiers. Nevertheless, visual inspection of the derived classification maps shows that HiRLiC is characterized by higher generalization properties, providing more homogeneous classifications that the competitors. Moreover, the runtime requirements for producing the thematic map was orders of magnitude lower than the respective for the competitors.

  3. The Process and Experience of Online Group Counseling for Masters-Level Counseling Students

    Science.gov (United States)

    Lopresti, Jason Michael

    2010-01-01

    The present study explored the process and experience of online group counseling using a text-based synchronous program, particularly addressing how the process compares to face-to-face group counseling. Six students in a masters-level group counseling class voluntarily chose to participate for eight sixty minute online sessions on a weekly basis,…

  4. Counseling-Related Research in Counseling Psychology: Creating Bricks, Not Edifices

    Science.gov (United States)

    Scheel, Michael J.; Berman, Margit; Friedlander, Myrna L.; Conoley, Collie W.; Duan, Changming; Whiston, Susan C.

    2011-01-01

    Three counseling psychology colleagues (Lichtenberg, 2011; Mallinckrodt, 2011; Murdock, 2011 [all this issue]) provide differing perspectives about the findings from our target article (Scheel et al., 2011) of the decline of published counseling-related research in our major journals. In this rejoinder we respond to each author's viewpoints…

  5. Making Sense of Your Genes: A Guide to Genetic Counseling

    Science.gov (United States)

    ... become ill. • The genetic counselor may also discuss environmental risk factors in and outside of the home, what ... make decisions about cancer screening and cancer prevention methods. It could also ... about their cancer risks. A genetic counselor can also refer you to ...

  6. Counseling Ethics Education Experience: An Interpretive Case Study of the First Year Master's Level Counseling Students

    Science.gov (United States)

    Zakaria, Noor Syamilah

    2013-01-01

    Counseling ethics competency is an important part of counselor identity development as required by the counseling profession training standards, and counseling ethics education is one major component of knowledge acquisition in counseling profession. Counselor educators and counselor education training programs have a core responsibility to…

  7. Molecular-genetic analysis of two cases with retinoblastoma ...

    Indian Academy of Sciences (India)

    Unknown

    Effective counselling and management of retinoblastoma families using genetic information is presently practised in many parts of ... to chromosomal deletion, single-nucleotide alteration, microdeletion, loss ... informed consent of the parent.

  8. 15 CFR 8a.425 - Counseling and use of appraisal and counseling materials.

    Science.gov (United States)

    2010-01-01

    ... 15 Commerce and Foreign Trade 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials. 8a.425 Section 8a.425 Commerce and Foreign Trade Office of the Secretary of Commerce... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 8a.425 Counseling and use of...

  9. Contraceptive counseling for adolescents.

    Science.gov (United States)

    Potter, Julia; Santelli, John S

    2015-11-01

    The majority of adolescents become sexually active during their teenage years, making contraceptive counseling an important aspect of routine adolescent healthcare. However, many healthcare providers express discomfort when it comes to counseling adolescents about contraceptive options. This Special Report highlights the evidence supporting age-appropriate contraceptive counseling for adolescents and focuses on best practices for addressing adolescents' questions and concerns about contraceptive methods.

  10. Genetics Home Reference: spastic paraplegia type 8

    Science.gov (United States)

    ... exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. The ... and Therapies General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  11. Genetics Home Reference: spastic paraplegia type 31

    Science.gov (United States)

    ... exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet ( pes ... and Therapies General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  12. Genetics Home Reference: familial paroxysmal nonkinesigenic dyskinesia

    Science.gov (United States)

    ... slow, prolonged contraction of muscles (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs ( ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  13. Genetics Home Reference: familial paroxysmal kinesigenic dyskinesia

    Science.gov (United States)

    ... involve slow, prolonged muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs ( ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  14. Addiction Counseling Accreditation: CACREP's Role in Solidifying the Counseling Profession

    Science.gov (United States)

    Hagedorn, W. Bryce; Culbreth, Jack R.; Cashwell, Craig S.

    2012-01-01

    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…

  15. The psychological impact of genetic testing on parents.

    Science.gov (United States)

    Dinc, Leyla; Terzioglu, Fusun

    2006-01-01

    The aim of this descriptive study was to explore the psychological impact of genetic testing on parents whose children have been referred for genetic testing. Genetic tests enable individuals to be informed about their health status and to have the opportunity of early diagnosis and treatment of their diseases. However undergoing genetic testing and receiving a positive test result may also cause stress and anxiety. This descriptive study was carried out at the genetic departments of two university hospitals in Ankara. The sample of this study consisted of 128 individuals whose children have been referred for chromosomal analysis. Data were collected through using a semi-structured interview method with a data collection form and the anxiety inventory and analysed using the percentages and independent samples t-test. The majority of our participants experienced distress before genetic testing. Their general trait anxiety score before receiving the test results was 47.38, and following the test results the state anxiety score was 50.65. Having a previous child with an abnormality, a positive test result, and being a mother elevated the anxiety of individuals. This paper supports the findings of previous studies, which indicated that genetic test results might lead to anxiety in individuals and reveals the importance of genetic counselling. As the results of this study indicated, genetic testing causes distress and anxiety in individuals. Nurses can play an important role in minimizing anxiety of parents whose children undergo genetic testing by providing information about genetic testing and by taking part in the counselling process.

  16. Counseling Graduate Students.

    Science.gov (United States)

    Caple, Richard B.

    1995-01-01

    Explores how the understanding of graduate students' special needs and circumstances enhances counseling of this population. Looks at stress factors, educational preparation, delayed gratification, achieving autonomy, intellectual development, and the counseling process. Emphasizes the importance of establishing trust in the therapeutic dialog so…

  17. Predicting Factors of Drop Out Counseling Process in University Psychological Counseling and Guidance Center

    Directory of Open Access Journals (Sweden)

    Omer OZER

    2015-03-01

    Full Text Available Objective: Objective: The purpose of this study is to evaluate the predicting factors the drop out the counseling process. Methods: The study group consists of 555 college students admitted to a Counseling and Guidance Center (CGC and participated in at least one session of counseling after the first view in the 2013-2014 academic year. As a data collection tool, an “Application Form” on the demographic information and the “Brief Symptom Inventory” was applied to the students; and independent samples t-test and binary logistic regression techniques were used in the analysis of the collected data. Results: According to the analysis results, the age of the students attending the counseling process was found to be higher than those who drop out, but no significant difference was found in their psychometric properties in terms of continuation of the counseling process. Only the age of clients and their previous psychiatric help history was found to predict the dropping out counseling process early. Conclusion: Drop outs are less frequently observed in clients having a previous psychiatric help experience. In addition, it was determined that older clients less frequently drop out the counseling process

  18. General Counsel`s office FY 1995 site support program plan WBS 6.10.5

    Energy Technology Data Exchange (ETDEWEB)

    Moreno, S.R.

    1994-09-01

    The General Counsel`s office provides legal counsel to all levels of WHC management; administers the intellectual property program; coordinates all WHC investigative activity and supports WHC activities to ensure compliance with all applicable federal, state, and local laws, DOE directives, contractual provisions, and other requirements. In so doing, the Office of General Counsel supports the Hanford site mission of transforming the Hanford site into an environmentally attractive and economically sustainable community. This document briefs the FY95 site support plan.

  19. Privacy and confidentiality measures in genetic testing and counselling: arguing on genetic exceptionalism again?

    Science.gov (United States)

    Witt, Magdalena M; Witt, Michał P

    2016-11-01

    Medical confidentiality in clinical genetics poses an important question about its scope, which would be in line with professional ethics and simple honesty. It is already known that the maintenance of absolute anonymity, bearing in mind the current progress of genetic techniques, is virtually impossible. On the other hand, our insight into the information contained in the human genome is increasing. This mini-review presents the authors' standpoint regarding this complex and difficult issue.

  20. Counseling through Images: Using Photography to Guide the Counseling Process and Achieve Treatment Goals

    Science.gov (United States)

    Ginicola, Misty M.; Smith, Cheri; Trzaska, Jessica

    2012-01-01

    Creative approaches to counseling help counselors to meet the needs of diverse populations. The utility of photography in counseling has been demonstrated through several case studies; however, clear implications of how photography relates to the counseling process have not been well delineated. The existing literature on phototherapy is reviewed…

  1. GENETIC TESTING AND RELATED ETHICAL ISSUES

    African Journals Online (AJOL)

    Enrique

    person, such as a genetic nurse, should inform them of their options and then refer them to a ... cation and counselling could fall to primary care doctors and nurses. Few pri- mary health care ... no prevention, treatment or cure, is very different.

  2. An open source information system for online counseling for a Mexican university

    Directory of Open Access Journals (Sweden)

    Arthur Walter Edwards

    2006-10-01

    Full Text Available One of the primary goals of undergraduate studies programs is to promote the professional and personal growth and success of their students. First year students, however, often suffer higher desertion rates and have lower academic performance levels than their more mature counterparts. Effective counseling and tutoring of students can help lower desertion rates that are often caused by academic demands, adjustment problems, maturation, personal or economic problems, alienation, or a lack of contact and effective guidance by faculty and staff. This paper describes an open source system for online counseling and tutoring that is designed to access and provide timely and accurate information, increase and optimize contact time, provide communication tools to facilitate interaction between professors and their tutees and assist in the administration and tracking of students.

  3. Role of genetic testing for inherited prostate cancer risk: Philadelphia prostate cancer consensus conference 2017

    NARCIS (Netherlands)

    V.N. Giri (Veda); Knudsen, K.E. (Karen E.); Kelly, W.K. (William K.); Abida, W. (Wassim); G.L. Andriole (Gerald); C.H. Bangma (Chris); Bekelman, J.E. (Justin E.); Benson, M.C. (Mitchell C.); A. Blanco (Amie); Burnett, A. (Arthur); Catalona, W.J. (William J.); Cooney, K.A. (Kathleen A.); M.R. Cooperberg (Matthew); D. Crawford (David); Den, R.B. (Robert B.); Dicker, A.P. (Adam P.); S. Eggener (Scott); N.E. Fleshner (Neil); Freedman, M.L. (Matthew L.); F. Hamdy (Freddie); Hoffman-Censits, J. (Jean); Hurwitz, M.D. (Mark D.); Hyatt, C. (Colette); Isaacs, W.B. (William B.); Kane, C.J. (Christopher J.); Kantoff, P. (Philip); R.J. Karnes (Jeffrey); Karsh, L.I. (Lawrence I.); Klein, E.A. (Eric A.); Lin, D.W. (Daniel W.); Loughlin, K.R. (Kevin R.); Lu-Yao, G. (Grace); Malkowicz, S.B. (S. Bruce); Mann, M.J. (Mark J.); Mark, J.R. (James R.); McCue, P.A. (Peter A.); Miner, M.M. (Martin M.); Morgan, T. (Todd); Moul, J.W. (Judd W.); Myers, R.E. (Ronald E.); Nielsen, S.M. (Sarah M.); Obeid, E. (Elias); Pavlovich, C.P. (Christian P.); Peiper, S.C. (Stephen C.); D.F. Penson (David F.); D.P. Petrylak (Daniel P); Pettaway, C.A. (Curtis A.); R. Pilarski (Robert); P. Pinto (Peter); Poage, W. (Wendy); Raj, G.V. (Ganesh V.); R. Rebbeck (Timothy); M. Robson (Mark); Rosenberg, M.T. (Matt T.); Sandler, H. (Howard); A.O. Sartor (Oliver); Schaeffer, E. (Edward); Schwartz, G.F. (Gordon F.); Shahin, M.S. (Mark S.); N.D. Shore (Neal); Shuch, B. (Brian); Soule, H.R. (Howard R.); S.A. Tomlins (Scott A); Trabulsi, E.J. (Edouard J.); Uzzo, R. (Robert); Griend, D.J.V. (Donald J. Vander); P.C. Walsh (Patrick); Weil, C.J. (Carol J.); Wender, R. (Richard); Gomella, L.G. (Leonard G.)

    2018-01-01

    textabstractPurpose: Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling,

  4. Exploration of Support Behavior in Counseling Groups with Counseling Trainees

    Science.gov (United States)

    Harel, Yoni; Shechtman, Zipora; Cutrona, Carolyn

    2012-01-01

    The study explores the types of support expressed in counseling groups attended by trainee counselors. Support is a crucial factor in human life in general, and in groups in particular, yet little is known about the type of support presented in counseling groups. Type of support was categorized by means of the Social Support Behavior Code (SSBC;…

  5. Working Alliance as a Mediator and Moderator between Expectations for Counseling Success and Counseling Outcome among Korean Clients

    Science.gov (United States)

    Yoo, Sung-Kyung; Hong, Sehee; Sohn, Nanhee; O'Brien, Karen M.

    2014-01-01

    The study examined client's perceptions of working alliance as a mediator and moderator between client expectations of counseling success and counseling outcome. Participants were 284 adult clients in counseling in university or community counseling centers or private practices in South Korea. Level of functioning at the start of counseling was…

  6. Assessing and counseling the obese patient: Improving resident obesity counseling competence.

    Science.gov (United States)

    Iyer, Shwetha; Jay, Melanie; Southern, William; Schlair, Sheira

    To evaluate obesity counseling competence among residents in a primary care training program METHODS: We delivered a 3h obesity curriculum to 28 Primary Care residents and administered a pre-curriculum and post curriculum survey looking specifically at self-assessed obesity counseling competence. Nineteen residents completed both the pre curriculum survey and the post curriculum survey. The curriculum had a positive impact on residents' ability to ascertain patient's stage of change, use different methods to obtain diet history (including 24h recall, food record or food frequency questionnaire), respond to patient's questions regarding treatment options, assist patients in setting realistic goals for weight loss based on making permanent lifestyle changes, and use of motivational interviewing to change behavior. When looking at the 5As domains, there was a significant improvement in the domains of Assess, Advise, and Assist. The proportion of residents with a lower level of self-assessed obesity counseling competence reduced from 75% before the curriculum to 37.5% (p=0.04) after the curriculum. Our curriculum addressing weight loss counseling using the 5As model increased obesity counseling competence among residents in a primary care internal medicine residency program. Copyright © 2018 Asia Oceania Association for the Study of Obesity. Published by Elsevier Ltd. All rights reserved.

  7. Religion and Spirituality in Group Counseling: Beliefs and Practices of University Counseling Center Counselors

    Science.gov (United States)

    Post, Brian C.; Cornish, Marilyn A.; Wade, Nathaniel G.; Tucker, Jeritt R.

    2013-01-01

    Fifty-four counselors at 9 university counseling centers participated in a study regarding religion and spirituality (R/S) in group counseling. The majority indicated that R/S is an appropriate topic for group counseling and that some religious and spiritual interventions are appropriate to use. However, counselors rarely use these interventions.…

  8. Online Counseling: New Entity, New Challenges

    Science.gov (United States)

    Barnett, Jeffrey E.

    2005-01-01

    Mallen, Vogel, and colleagues explore the developing field of online counseling from the unique perspective of counseling psychology. They examine the body of available research and relevant clinical, ethical, legal, and practical issues and make recommendations for counseling psychologists who desire to participate in online counseling. This…

  9. Counseling for Empowerment.

    Science.gov (United States)

    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,…

  10. Counseling Services for Women in Marriage Age

    OpenAIRE

    Frischa Meivilona Yendi; Zadrian Ardi; Ifdil Ifdil

    2015-01-01

    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.

  11. 28 CFR 550.43 - Drug counseling.

    Science.gov (United States)

    2010-07-01

    ... 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...

  12. Evaluating online direct-to-consumer marketing of genetic tests: informed choices or buyers beware?

    Science.gov (United States)

    Geransar, Rose; Einsiedel, Edna

    2008-03-01

    Commercialization of genetic technologies is expanding the horizons for the marketing and sales of genetic tests direct-to-consumers (DTCs). This study assesses the information provision and access requirements that are in place for genetic tests that are being advertised DTC over the Internet. Sets of key words specific to DTC genetic testing were entered into popular Internet search engines to generate a list of 24 companies engaging in DTC advertising. Company requirements for physician mediation, genetic counseling arrangements, and information provision were coded to develop categories for quantitative analysis within each variable. Results showed that companies offering risk assessment and diagnostic testing were most likely to require that testing be mediated by a clinician, and to recommend physician-arranged counseling. Companies offering enhancement testing were less likely to require physician mediation of services and more likely to provide long-distance genetic counseling. DTC advertisements often provided information on disease etiology; this was most common in the case of multifactorial diseases. The majority of companies cited outside sources to support the validity of claims about clinical utility of the tests being advertised; companies offering risk assessment tests most frequently cited all information sources. DTC advertising for genetic tests that lack independent professional oversight raises troubling questions about appropriate use and interpretation of these tests by consumers and carries implications for the standards of patient care. These implications are discussed in the context of a public healthcare system.

  13. Counseling Services for Women in Marriage Age

    Directory of Open Access Journals (Sweden)

    Frischa Meivilona Yendi

    2015-11-01

    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.

  14. 34 CFR 685.304 - Counseling borrowers.

    Science.gov (United States)

    2010-07-01

    ... 34 Education 3 2010-07-01 2010-07-01 false Counseling borrowers. 685.304 Section 685.304 Education... Direct Loan Program Schools § 685.304 Counseling borrowers. (a) Entrance counseling. (1) Except as provided in paragraph (a)(8) of this section, a school must ensure that entrance counseling is conducted...

  15. 28 CFR 551.113 - Counseling.

    Science.gov (United States)

    2010-07-01

    ... 28 Judicial Administration 2 2010-07-01 2010-07-01 false Counseling. 551.113 Section 551.113... Pretrial Inmates § 551.113 Counseling. (a) When consistent with institution security and good order, pretrial inmates may be allowed the opportunity to receive counseling services with convicted inmates. (b...

  16. Multicultural and Social Justice Counseling Competencies: Guidelines for the Counseling Profession

    Science.gov (United States)

    Ratts, Manivong J.; Singh, Anneliese A.; Nassar-McMillan, Sylvia; Butler, S. Kent; McCullough, Julian Rafferty

    2016-01-01

    In 2014, the Association for Multicultural Counseling and Development (AMCD) appointed a committee to revise the Multicultural Counseling Competencies developed by Sue, Arredondo, and McDavis in 1992 and operationalized by Arredondo et al. in 1996. This article reflects the updated competencies, titled the Multicultural and Social Justice…

  17. Review of School Counseling Outcome Research

    Science.gov (United States)

    Whiston, Susan C.; Quinby, Robert F.

    2009-01-01

    This article is somewhat unique in this special issue as it focuses on the effectiveness of an array of school counseling interventions and not solely on individual and group counseling. In summarizing the school counseling outcome literature, the authors found that students who participated in school counseling interventions tended to score on…

  18. Abraham Maslow's Legacy for Counseling.

    Science.gov (United States)

    Hoffman, Edward

    1990-01-01

    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)

  19. Do Counseling and Marketing Mix?

    Science.gov (United States)

    Fong-Beyette, Margaret L.

    1988-01-01

    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;…

  20. Role Induction in Career Counseling

    Science.gov (United States)

    Fouad, Nadya A.; Kantamneni, Neeta; Chen, Yung-Lung; Novakovic, Alexandra; Guillen, Amy; Priester, Paul E.; Henry, Caroline; Terry, Sarah

    2007-01-01

    Many vocational psychologists advocate addressing career as well as personal concerns in career counseling. However, some clients may have inappropriate expectations toward career counseling and may not be prepared or want to discuss personal issues. This study examined whether perceptions of the career counseling process could be modified with…

  1. 24 CFR 206.41 - Counseling.

    Science.gov (United States)

    2010-04-01

    ... 24 Housing and Urban Development 2 2010-04-01 2010-04-01 false Counseling. 206.41 Section 206.41... CONVERSION MORTGAGE INSURANCE Eligibility; Endorsement Eligible Mortgagors § 206.41 Counseling. (a) List... receive counseling. (b) Information to be provided. A counselor must discuss with the mortgagor: (1) The...

  2. 20 CFR 638.517 - Counseling.

    Science.gov (United States)

    2010-04-01

    ... 20 Employees' Benefits 3 2010-04-01 2010-04-01 false Counseling. 638.517 Section 638.517 Employees... THE JOB TRAINING PARTNERSHIP ACT Center Operations § 638.517 Counseling. The center operator shall establish and conduct an ongoing structured counseling program in accordance with procedures issued by the...

  3. Genetics Home Reference: lattice corneal dystrophy type II

    Science.gov (United States)

    ... leading to muscle weakness, clumsiness, and difficulty sensing vibrations. The skin is also commonly affected in people ... Lamp Examination General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  4. Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative.

    Science.gov (United States)

    Wood, Marie E; Kadlubek, Pamela; Pham, Trang H; Wollins, Dana S; Lu, Karen H; Weitzel, Jeffrey N; Neuss, Michael N; Hughes, Kevin S

    2014-03-10

    Family history of cancer (CFH) is important for identifying individuals to receive genetic counseling/testing (GC/GT). Prior studies have demonstrated low rates of family history documentation and referral for GC/GT. CFH quality and GC/GT practices for patients with breast (BC) or colon cancer (CRC) were assessed in 271 practices participating in the American Society of Clinical Oncology Quality Oncology Practice Initiative in fall 2011. A total of 212 practices completed measures regarding CFH and GC/GT practices for 10,466 patients; 77.4% of all medical records reviewed documented presence or absence of CFH in first-degree relatives, and 61.5% of medical records documented presence or absence of CFH in second-degree relatives, with significantly higher documentation for patients with BC compared with CRC. Age at diagnosis was documented for all relatives with cancer in 30.7% of medical records (BC, 45.2%; CRC, 35.4%; P ≤ .001). Referall for GC/GT occurred in 22.1% of all patients with BC or CRC. Of patients with increased risk for hereditary cancer, 52.2% of patients with BC and 26.4% of those with CRC were referred for GC/GT. When genetic testing was performed, consent was documented 77.7% of the time, and discussion of results was documented 78.8% of the time. We identified low rates of complete CFH documentation and low rates of referral for those with BC or CRC meeting guidelines for referral among US oncologists. Documentation and referral were greater for patients with BC compared with CRC. Education and support regarding the importance of accurate CFH and the benefits of proactive high-risk patient management are clearly needed.

  5. Edo Journal of Counselling

    African Journals Online (AJOL)

    Edo Journal of Counselling, the official publication of Edo Chapter of Counselling ... The Mediating Impact of Personality and Socio-Economic Status in the ... Fostering Adolescents' Interpersonal Behaviour: An Empirical Assessment of ...

  6. Marriage Counselling in Australia: An Evaluation.

    Science.gov (United States)

    Wolcott, Ilene; Glezer, Helen

    A study was conducted of the effectiveness of marriage counseling with respect to marital status and the long-term stability of relationships. Data were gathered from clients of approved Australian marriage counseling agencies (n=540) who took a pre-counseling survey during a 4-week period in October-November 1987 and a post-counseling survey 8…

  7. Counseling in Singapore

    Science.gov (United States)

    Yeo, Lay See; Tan, Soo Yin; Neihart, Maureen F.

    2012-01-01

    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…

  8. Genetic and epigenetic factors: Role in male infertility

    Directory of Open Access Journals (Sweden)

    M B Shamsi

    2011-01-01

    Full Text Available Genetic factors contribute upto 15%-30% cases of male infertility. Formation of spermatozoa occurs in a sequential manner with mitotic, meiotic, and postmeiotic differentiation phases each of which is controlled by an intricate genetic program. Genes control a variety of physiologic processes, such as hypothalamus-pituitary-gonadal axis, germ cell development, and differentiation. In the era of assisted reproduction technology, it is important to understand the genetic basis of infertility to provide maximum adapted therapeutics and counseling to the couple.

  9. From Novice to Seasoned Practitioner: a Qualitative Investigation of Genetic Counselor Professional Development.

    Science.gov (United States)

    Zahm, Kimberly Wehner; Veach, Patricia McCarthy; Martyr, Meredith A; LeRoy, Bonnie S

    2016-08-01

    Research on genetic counselor professional development would characterize typical developmental processes, inform training and supervision, and promote life-long development opportunities. To date, however no studies have comprehensively examined this phenomenon. The aims of this study were to investigate the nature of professional development for genetic counselors (processes, influences, and outcomes) and whether professional development varies across experience levels. Thirty-four genetic counselors participated in semi-structured telephone interviews exploring their perspectives on their professional development. Participants were sampled from three levels of post-degree genetic counseling experience: novice (0-5 years), experienced (6-14 years), and seasoned (>15 years). Using modified Consensual Qualitative Research and grounded theory methods, themes, domains, and categories were extracted from the data. The themes reflect genetic counselors' evolving perceptions of their professional development and its relationship to: (a) being a clinician, (b) their professional identity, and (c) the field itself. Across experience levels, prevalent influences on professional development were interpersonal (e.g., experiences with patients, genetic counseling colleagues) and involved professional and personal life events. Common developmental experiences included greater confidence and less anxiety over time, being less information-driven and more emotion-focused with patients, delivering "bad news" to patients remains challenging, and individuals' professional development experiences parallel genetic counseling's development as a field. With a few noteworthy exceptions, professional development was similar across experience levels. A preliminary model of genetic counselor professional development is proposed suggesting development occurs in a non-linear fashion throughout the professional lifespan. Each component of the model mutually influences the others, and there

  10. E-Counselling Implementation: Students' Life Stories and Counselling Technologies in Perspective

    Science.gov (United States)

    Kolog, Emmanuel Awuni; Sutinen, Erkki; Vanhalakka-Ruoho, Marjatta

    2014-01-01

    Given the current global trend of mimicking real life situations into digital counselling games and its related digital counselling platforms, we decided to contextually understand from the Ghanaian senior high school students, their life challenges arising from their life stories. The study also explores the extent to which ICT is currently being…

  11. Fetal magnetic resonance imaging and human genetics

    International Nuclear Information System (INIS)

    Hengstschlaeger, Markus

    2006-01-01

    The use of fetal magnetic resonance imaging (MRI), in addition to prenatal genetic testing and sonography, has the potential to improve prenatal diagnosis of genetic disorders. MRI plays an important role in the evaluation of fetal abnormalities and malformations. Fetal MRI often enables a differential diagnosis, a determination of the extent of the disorder, the prognosis, and an improvement in therapeutic management. For counseling of parents, as well as to basically understand how genetic aberrations affect fetal development, it is of great importance to correlate different genotypes with fetal MRI data

  12. Fetal magnetic resonance imaging and human genetics

    Energy Technology Data Exchange (ETDEWEB)

    Hengstschlaeger, Markus [Medical Genetics, Obstetrics and Gynecology, Medical University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria)]. E-mail: markus.hengstschlaeger@meduniwien.ac.at

    2006-02-15

    The use of fetal magnetic resonance imaging (MRI), in addition to prenatal genetic testing and sonography, has the potential to improve prenatal diagnosis of genetic disorders. MRI plays an important role in the evaluation of fetal abnormalities and malformations. Fetal MRI often enables a differential diagnosis, a determination of the extent of the disorder, the prognosis, and an improvement in therapeutic management. For counseling of parents, as well as to basically understand how genetic aberrations affect fetal development, it is of great importance to correlate different genotypes with fetal MRI data.

  13. Making sense of genetic uncertainty: the role of religion and spirituality.

    Science.gov (United States)

    White, Mary T

    2009-02-15

    This article argues that to the extent that religious and spiritual beliefs can help people cope with genetic uncertainty, a limited spiritual assessment may be appropriate in genetic counseling. The article opens by establishing why genetic information is inherently uncertain and why this uncertainty can be medically, morally, and spiritually problematic. This is followed by a review of the range of factors that can contribute to risk assessments, including a few heuristics commonly used in responses to uncertainty. The next two sections summarize recent research on the diverse roles of religious and spiritual beliefs in genetic decisions and challenges to conducting spiritual assessments in genetic counseling. Based on these findings, religious and spiritual beliefs are posited as serving essentially as a heuristic that some people will utilize in responding to their genetic risks. In the interests of helping such clients make informed decisions, a limited spiritual assessment is recommended and described. Some of the challenges and risks associated with this limited assessment are discussed. Since some religious and spiritual beliefs can conflict with the values of medicine, some decisions will remain problematic. (c) 2009 Wiley-Liss, Inc.

  14. Narrative Dietary Counseling

    DEFF Research Database (Denmark)

    Søndergaard Jakobsen, Nina; Kaufmann, Lisbeth; Hennesser, Yvonne

    2017-01-01

    Using cases and empirical data from a research and development project at a Danish prevention center, this study explores whether and how the use of narrative dietary counseling can strengthen dietitians' relationships and collaboration with clients who are chronically ill. The results of the study...... dietary counseling empowered clients and improved relationship building and collaboration between client and dietitian....

  15. National Society of Genetic Counselors Code of Ethics.

    Science.gov (United States)

    2018-02-01

    This document is the revised Code of Ethics of the National Society of Genetic Counselors (NSGC) that was adopted in April 2017 after majority vote of the full membership of the NSGC. The explication of the revisions is published in this volume of the Journal of Genetic Counseling. This is the fourth revision to the Code of Ethics since its original adoption in 1992.

  16. Counseling parents to quit smoking.

    Science.gov (United States)

    Sheahan, Sharon L; Free, Teresa A

    2005-01-01

    It is estimated that 20%-50% of adult smokers reside with children, and the majority of these smokers (70%) continue to smoke inside their homes despite the adverse health effects of second hand smoke (SHS) for their children (Centers for Disease Control and Prevention, 1997). Smoking is more prevalent among parents with lower incomes and less education (U.S. Surgeon General's Report, 2002a). Young persons, ages 20-40 in the family child-rearing stage, are more likely to be smokers. However, they usually have less time and financial resources for quitting smoking. To prevent the adverse health effects of SHS for children, pediatric nurses must provide parents with accurate information on affordable smoking cessation education resources. Evidenced-based smoking cessation guidelines, the cost and efficacy of prescription and over-the-counter (OTC) pharmacological aids, and essential counseling tips for parents are reviewed.

  17. Public health genetic counselors: activities, skills, and sources of learning.

    Science.gov (United States)

    McWalter, Kirsty M; Sdano, Mallory R; Dave, Gaurav; Powell, Karen P; Callanan, Nancy

    2015-06-01

    Specialization within genetic counseling is apparent, with 29 primary specialties listed in the National Society of Genetic Counselors' 2012 Professional Status Survey (PSS). PSS results show a steady proportion of genetic counselors primarily involved in public health, yet do not identify all those performing public health activities. Little is known about the skills needed to perform activities outside of "traditional" genetic counselor roles and the expertise needed to execute those skills. This study aimed to identify genetic counselors engaging in public health activities, the skills used, and the most influential sources of learning for those skills. Participants (N = 155) reported involvement in several public health categories: (a) Education of Public and/or Health Care Providers (n = 80, 52 %), (b) Population-Based Screening Programs (n = 70, 45 %), (c) Lobbying/Public Policy (n = 62, 40 %), (d) Public Health Related Research (n = 47, 30 %), and (e) State Chronic Disease Programs (n = 12, 8 %). Regardless of category, "on the job" was the most common primary source of learning. Genetic counseling training program was the most common secondary source of learning. Results indicate that the number of genetic counselors performing public health activities is likely higher than PSS reports, and that those who may not consider themselves "public health genetic counselors" do participate in public health activities. Genetic counselors learn a diverse skill set in their training programs; some skills are directly applicable to public health genetics, while other public health skills require additional training and/or knowledge.

  18. Genetic and non-genetic causes of Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency: Results of the HYPOPIT study

    NARCIS (Netherlands)

    L.C.G. de Graaff (Laura)

    2008-01-01

    textabstractHypopituitarism, the deficiency of one or more pituitary hormones, causes stunted growth and severe health problems. Understanding the etiology of pituitary hormone deficiencies is important for anticipation of clinical problems, for genetic counselling and for possible prevention. This

  19. Great aspirations: the postwar American college counseling center.

    Science.gov (United States)

    McCarthy, Tom

    2014-02-01

    In the decade after World War II, psychologists, eager to bring the benefits of counseling to larger numbers, convinced hundreds of American colleges and universities to establish counseling centers. Inspired by the educational-vocational counseling center founded by psychologists at the University of Minnesota in 1932, Carl R. Rogers's "client-centered" methods of personal adjustment counseling, and the 400-plus college counseling centers created by the Veterans Administration to provide the educational-vocational counseling benefit promised to returning World War II servicemen under the 1944 GI Bill, these counseling psychologists created a new place to practice where important currents in psychology, higher education, and federal policy converged and where they attempted to integrate educational-vocational counseling with personal adjustment counseling based on techniques from psychotherapy. By the mid-1960s, half of America's colleges and universities had established counseling centers, and more than 90% offered students educational, vocational, and psychological counseling services, a great achievement of the first generation of counseling psychologists.

  20. National Society of Genetic Counselors Code of Ethics: Explication of 2017 Revisions.

    Science.gov (United States)

    Senter, Leigha; Bennett, Robin L; Madeo, Anne C; Noblin, Sarah; Ormond, Kelly E; Schneider, Kami Wolfe; Swan, Kelli; Virani, Alice

    2018-02-01

    The Code of Ethics (COE) of the National Society of Genetic Counselors (NSGC) was adopted in 1992 and was later revised and adopted in 2006. In 2016, the NSGC Code of Ethics Review Task Force (COERTF) was convened to review the COE. The COERTF reviewed ethical codes written by other professional organizations and suggested changes that would better reflect the current and evolving nature of the genetic counseling profession. The COERTF received input from the society's legal counsel, Board of Directors, and members-at-large. A revised COE was proposed to the membership and approved and adopted in April 2017. The revisions and rationale for each are presented.

  1. Counseling in Turkey: An Evolving Field

    Science.gov (United States)

    Stockton, Rex; Guneri, Oya Yerin

    2011-01-01

    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.

  2. Genetics Home Reference: spinocerebellar ataxia type 2

    Science.gov (United States)

    ... Almira YR, Zaldivar YG, Almarales DC, Góngora EM, Herrera MP, Batallán KE, Armiñán RR, Manresa MV, Cruz ... Falcón NS, Góngora EM, Almarales DC, Pérez LV, Herrera MP. Age-dependent risks in genetic counseling for ...

  3. Turner syndrome: counseling prior to oocyte donation

    Directory of Open Access Journals (Sweden)

    Ester Silveira Ramos

    2007-03-01

    Full Text Available Ovarian failure is a typical feature of Turner syndrome (TS. Patients are followed clinically with hormone replacement therapy (HRT and inclusion in the oocyte donation program, if necessary. For patients with spontaneous puberty, genetic counseling regarding preimplantation genetic diagnosis and prenatal diagnosis is indicated. Patients with dysgenetic gonads and a Y chromosome are at increased risk of developing gonadoblastoma. Even though this is not an invasive tumor, its frequent association with other malignant forms justifies prophylactic gonadectomy. It is important to perform gonadectomy before HRT and pregnancy with oocyte donation. Among patients with TS stigmata and female genitalia, many have the Y chromosome in one of the cell lines. For this reason, all patients should undergo cytogenetic analysis. Nevertheless, in cases of structural chromosomal alterations or hidden mosaicism, the conventional cytogenetic techniques may be ineffective and molecular investigation is indicated. The author proposes a practical approach for investigating women with TS stigmata in whom identification of the X or Y chromosome is important for clinical management and follow-up.

  4. Courtland Lee: A Global Advocate for Counseling

    Science.gov (United States)

    Gladding, Samuel T.

    2011-01-01

    Courtland Lee is exemplary in his accomplishments nationally and internationally. His academic achievements are notable in multicultural counseling and social justice. His leadership in counseling has been outstanding with his having served as president of the American Counseling Association, the Association for Multicultural Counseling and…

  5. [Genetic diagnostics of cancer diseases].

    Science.gov (United States)

    Cobilanschi, Joana

    2013-11-27

    Cancer is caused by genetic alterations, but only 10% of the cancer diseases are inherited. The probability for an individual or a family of having inherited cancer, individual consequences of the respective results of genetic testing, as well as its costs and reimbursement by the health insurance must be addressed by expert genetic counseling which at-risk requires special expertise. Identification of a germline mutation which may predispose to a variety of different cancer types allows determination of an individual's specific life time risk in symptomatic as well as in a-symptomatic family members. Identification of the underlying defective gene in heritable cancer disorders also enables optimized preventive and novel therapeutic approaches specifically targeting the underlying molecular pathomechanisms.

  6. Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy.

    Science.gov (United States)

    Bianco, Bianca; Christofolini, Denise Maria; Conceição, Gabriel Seixas; Barbosa, Caio Parente

    2017-01-01

    Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.

  7. The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling.

    Science.gov (United States)

    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

    2017-04-01

    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.

  8. 24 CFR 214.313 - Housing counseling fees.

    Science.gov (United States)

    2010-04-01

    ... 24 Housing and Urban Development 2 2010-04-01 2010-04-01 false Housing counseling fees. 214.313... HOUSING COUNSELING PROGRAM Program Administration § 214.313 Housing counseling fees. (a) Participating agencies may charge reasonable and customary fees for housing education and counseling services, as long as...

  9. Malpractice in Counseling Neuropsychology.

    Science.gov (United States)

    Woody, Robert Henley

    1992-01-01

    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…

  10. Attitudes towards genetic testing: analysis of contradictions

    DEFF Research Database (Denmark)

    Jallinoja, P; Hakonen, A; Aro, A R

    1998-01-01

    A survey study was conducted among 1169 people to evaluate attitudes towards genetic testing in Finland. Here we present an analysis of the contradictions detected in people's attitudes towards genetic testing. This analysis focuses on the approval of genetic testing as an individual choice and o...... studies on attitudes towards genetic testing as well as in the health care context, e.g. in genetic counselling.......A survey study was conducted among 1169 people to evaluate attitudes towards genetic testing in Finland. Here we present an analysis of the contradictions detected in people's attitudes towards genetic testing. This analysis focuses on the approval of genetic testing as an individual choice...... and on the confidence in control of the process of genetic testing and its implications. Our analysis indicated that some of the respondents have contradictory attitudes towards genetic testing. It is proposed that contradictory attitudes towards genetic testing should be given greater significance both in scientific...

  11. Genetics of asthma

    DEFF Research Database (Denmark)

    Thomsen, Simon F

    2015-01-01

    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....... The advent of new genotyping technologies has made it possible to sequence in great detail the human genome for asthma-associated variants, and accordingly, recent decades have witnessed an explosion in the number of rare and common variants associated with disease risk. This review presents an overview...... of methods and advances in asthma genetics in an attempt to help the clinician keep track of the most important knowledge in the field....

  12. Meckel Syndrome: Genetics, Perinatal Findings, and Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

    Full Text Available Meckel syndrome (MKS is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1. MKS1 encodes a component of flagellar apparatus basal body proteome, which is associated with ciliary function. MKS3 encodes a seven-transmembrane receptor protein, meckelin. The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk families, and allows accurate genetic counseling, carrier testing, and prenatal diagnosis. Pregnancies with MKS fetuses may be associated with an elevated maternal serum α-fetoprotein level and an abnormal screening result in the second-trimester maternal serum screening test. The classic MKS triad of occipital encephalocele, postaxial polydactyly, and bilateral enlarged multicystic kidneys can be diagnosed before the 14th gestational weeks by ultrasonography. However, later in pregnancy, severe oligohydramnios may make the diagnosis of polydactyly and encephalocele difficult. Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. This article provides an overview of genetics, perinatal findings, and differential diagnosis of MKS. The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly.

  13. Experiencing the genetic body: parents' encounters with pediatric clinical genetics.

    Science.gov (United States)

    Raspberry, Kelly; Skinner, Debra

    2007-01-01

    Because of advancements in genetic research and technologies, the clinical practice of genetics is becoming a prevalent component of biomedicine. As the genetic basis for more and more diseases are found, it is possible that ways of experiencing health, illness, identity, kin relations, and the body are becoming geneticized, or understood within a genetic model of disease. Yet, other models and relations that go beyond genetic explanations also shape interpretations of health and disease. This article explores how one group of individuals for whom genetic disorder is highly relevant formulates their views of the body in light of genetic knowledge. Using data from an ethnographic study of 106 parents or potential parents of children with known or suspected genetic disorders who were referred to a pediatric genetic counseling and evaluation clinic in the southeastern United States, we find that these parents do, to some degree, perceive of their children's disorders in terms of a genetic body that encompasses two principal qualities: a sense of predetermined health and illness and an awareness of a profound historicity that reaches into the past and extends into the present and future. They experience this genetic body as both fixed and historical, but they also express ideas of a genetic body made less deterministic by their own efforts and future possibilities. This account of parents' experiences with genetics and clinical practice contributes to a growing body of work on the ways in which genetic information and technologies are transforming popular and medical notions of the body, and with it, health, illness, kinship relations, and personal and social identities.

  14. Understanding Philosophical Counseling | Sivil | South African ...

    African Journals Online (AJOL)

    philosophical counseling by exploring its points of convergence to and deviation from its complimentary parts – philosophy and counseling. The practical and applied orientation of philosophical counseling seems worlds apart from what many consider to exemplify philosophy – theoretical, intellectual and abstract concern ...

  15. Psychological counselling and indigenous African knowledge ...

    African Journals Online (AJOL)

    Psychological counselling relates to basic humanity and universal values such as the regard for human dignity, healthy socialisation, and emotional health. Counselling individuals who experience emotional or relational problems is a function of the helping and health care professions. Effective counselling should provide ...

  16. Infusing Counseling Skills in Test Interpretation.

    Science.gov (United States)

    Rawlins, Melanie E.; And Others

    1991-01-01

    Presents an instructional model based on Neurolinguistic Programming that links counseling student course work in measurement and test interpretation with counseling techniques and theory. A process incorporating Neurolinguistic Programming patterns is outlined for teaching graduate students the counseling skills helpful in test interpretation.…

  17. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    https://www.ias.ac.in/article/fulltext/jgen/094/02/0295-0298. Keywords. methylmalonic academia; prenatal diagnosis; carrier identification; genetic counselling. Author Affiliations. Ameya Paleja1 Anuradha Udumudi1. ATS GeneTech Private Limited, 6-3-1113/4, GVR Villa, Behind BS Makhtha Maisamma Temple, Greenlands, ...

  18. Current and future role of genetic screening in gynecologic malignancies.

    Science.gov (United States)

    Ring, Kari L; Garcia, Christine; Thomas, Martha H; Modesitt, Susan C

    2017-11-01

    The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syndrome account for the majority of mutations encountered by gynecologists, newly identified deleterious genetic mutations continue to be unearthed with their associated risks of malignancies. However, these advances in genetic cancer predispositions then force practitioners and their patients to confront the uncertainties of these less commonly identified mutations and the fact that there is limited evidence to guide them in expected cancer risk and appropriate risk-reduction strategies. Given the speed of information, it is imperative to involve cancer genetics experts when counseling these patients. In addition, coordination of screening and care in conjunction with specialty high-risk clinics, if available, allows for patients to have centralized management for multiple cancer risks under the guidance of physicians with experience counseling these patients. The objective of this review is to present the current literature regarding genetic mutations associated with gynecologic malignancies as well to propose screening and risk-reduction options for these high-risk patients. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Genetics for the ophthalmologist

    Directory of Open Access Journals (Sweden)

    Karthikeyan A Sadagopan

    2012-01-01

    Full Text Available The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails, nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

  20. 24 CFR 214.300 - Counseling services.

    Science.gov (United States)

    2010-04-01

    ... to provide specified types of counseling nationally. (6) All participating agencies that offer group educational sessions must also offer individual counseling on the same topics covered in the group educational... 24 Housing and Urban Development 2 2010-04-01 2010-04-01 false Counseling services. 214.300...

  1. Outcomes of Career Counseling with Women.

    Science.gov (United States)

    Seligman, Linda

    1981-01-01

    Describes a career counseling program for adult females. Reports questionnaire results used to assess the effectiveness of that program. Male as well as female clients seemed to derive both attitudinal and occupational benefits from career counseling and expressed positive views of the career counseling process. (Author)

  2. Identifying Role Diffusion in School Counseling

    Science.gov (United States)

    Astramovich, Randall L.; Hoskins, Wendy J.; Gutierrez, Antonio P.; Bartlett, Kerry A.

    2013-01-01

    Role ambiguity in professional school counseling is an ongoing concern despite recent advances with comprehensive school counseling models. The study outlined in this article examined role diffusion as a possible factor contributing to ongoing role ambiguity in school counseling. Participants included 109 graduate students enrolled in a…

  3. 15 CFR 0.735-38 - Availability for counseling.

    Science.gov (United States)

    2010-01-01

    ... 15 Commerce and Foreign Trade 1 2010-01-01 2010-01-01 false Availability for counseling. 0.735-38... AND CONDUCT Administration § 0.735-38 Availability for counseling. (a) The General Counsel of the... part; and (3) Coordinate the counseling services provided under this part and assure that counseling...

  4. [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

    Science.gov (United States)

    Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

    2014-08-01

    To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

  5. Crisis Counseling: An Overview

    Science.gov (United States)

    Sandoval, Jonathan; Scott, Amy Nicole; Padilla, Irene

    2009-01-01

    Psychologists working in schools are often the first contacts for children experiencing a potentially traumatizing event or change in status. This article reviews basic concepts in crisis counseling and describes the components of psychological first aid. This form of counseling must be developmentally and culturally appropriate as well as…

  6. Counseling on Sun Protection and Indoor Tanning.

    Science.gov (United States)

    Balk, Sophie J; Gottschlich, Elizabeth A; Holman, Dawn M; Watson, Meg

    2017-12-01

    The US Preventive Services Task Force recommends clinical counseling for individuals ages 10 to 24 years to decrease skin cancer risk. A national, random sample of US American Academy of Pediatrics members practicing primary care in 2002 (response rate 55%) and 2015 (response rate 43%). Surveys explored attitudes and experiences regarding sun protection counseling; indoor tanning questions were added in 2015. χ 2 tests compared demographics and counseling responses across years, and multivariable logistic regression models examined counseling predictors. More pediatricians in 2015 (34%) than in 2002 (23%) reported discussing sun protection during recent summer months with ≥75% of patients. This pattern held across all patient age groups (each P tanning at least once with 10 to 13 year-old patients; approximately half discussed this with older adolescents. Most (70%) did not know if their states had laws on minors' indoor tanning access; those stating they knew whether a law existed counseled more. Although improved, sun protection counseling rates remain low. Indoor tanning counseling can be improved. Because early-life exposure to UV radiation increases risk and clinician counseling can positively impact prevention behaviors, pediatricians have an important role in skin cancer prevention; counseling may save lives. Time constraints remain a barrier. Copyright © 2017 by the American Academy of Pediatrics.

  7. Deep-Learning Convolutional Neural Networks Accurately Classify Genetic Mutations in Gliomas.

    Science.gov (United States)

    Chang, P; Grinband, J; Weinberg, B D; Bardis, M; Khy, M; Cadena, G; Su, M-Y; Cha, S; Filippi, C G; Bota, D; Baldi, P; Poisson, L M; Jain, R; Chow, D

    2018-05-10

    The World Health Organization has recently placed new emphasis on the integration of genetic information for gliomas. While tissue sampling remains the criterion standard, noninvasive imaging techniques may provide complimentary insight into clinically relevant genetic mutations. Our aim was to train a convolutional neural network to independently predict underlying molecular genetic mutation status in gliomas with high accuracy and identify the most predictive imaging features for each mutation. MR imaging data and molecular information were retrospectively obtained from The Cancer Imaging Archives for 259 patients with either low- or high-grade gliomas. A convolutional neural network was trained to classify isocitrate dehydrogenase 1 ( IDH1 ) mutation status, 1p/19q codeletion, and O6-methylguanine-DNA methyltransferase ( MGMT ) promotor methylation status. Principal component analysis of the final convolutional neural network layer was used to extract the key imaging features critical for successful classification. Classification had high accuracy: IDH1 mutation status, 94%; 1p/19q codeletion, 92%; and MGMT promotor methylation status, 83%. Each genetic category was also associated with distinctive imaging features such as definition of tumor margins, T1 and FLAIR suppression, extent of edema, extent of necrosis, and textural features. Our results indicate that for The Cancer Imaging Archives dataset, machine-learning approaches allow classification of individual genetic mutations of both low- and high-grade gliomas. We show that relevant MR imaging features acquired from an added dimensionality-reduction technique demonstrate that neural networks are capable of learning key imaging components without prior feature selection or human-directed training. © 2018 by American Journal of Neuroradiology.

  8. HIV counselling in prisons.

    Science.gov (United States)

    Curran, L; McHugh, M; Nooney, K

    1989-01-01

    HIV presents particular problem in penal establishments: the nature of the population; conditions in prison; media attention and misinformation; the possibility of transmission within and beyond the prison population; the extra issues that apply to female prisoners. These are discussed in the context of prison policy regarding HIV and the broad strategic approach which is being adopted to manage the problem of HIV within penal institutions. Counselling has a key role in the overall strategy. Pre- and post-test counselling with prisoners is described and the particular problems presented by inmates are discussed and illustrated by reference to case histories. Developments in counselling provision for inmates are outlined.

  9. The revised Bethesda guidelines: extent of utilization in a university hospital medical center with a cancer genetics program

    Directory of Open Access Journals (Sweden)

    Mukherjee Aparna

    2010-11-01

    Full Text Available Abstract Background In 1996, the National Cancer Institute hosted an international workshop to develop criteria to identify patients with colorectal cancer who should be offered microsatellite instability (MSI testing due to an increased risk for Hereditary Nonpolyposis Colorectal Cancer (HNPCC. These criteria were further modified in 2004 and became known as the revised Bethesda Guidelines. Our study aimed to retrospectively evaluate the percentage of patients diagnosed with HNPCC tumors in 2004 who met revised Bethesda criteria for MSI testing, who were referred for genetic counseling within our institution. Methods All HNPCC tumors diagnosed in 2004 were identified by accessing CoPath, an internal database. Both the Tumor Registry and patients' electronic medical records were accessed to collect all relevant family history information. The list of patients who met at least one of the revised Bethesda criteria, who were candidates for MSI testing, was then cross-referenced with the database of patients referred for genetic counseling within our institution. Results A total of 380 HNPCC-associated tumors were diagnosed at our institution during 2004 of which 41 (10.7% met at least one of the revised Bethesda criteria. Eight (19.5% of these patients were referred for cancer genetic counseling of which 2 (25% were seen by a genetics professional. Ultimately, only 4.9% of patients eligible for MSI testing in 2004 were seen for genetic counseling. Conclusion This retrospective study identified a number of barriers, both internal and external, which hindered the identification of individuals with HNPCC, thus limiting the ability to appropriately manage these high risk families.

  10. Publishing International Counseling Articles

    Science.gov (United States)

    Hohenshil, Thomas H.; Amundson, Norman E.

    2011-01-01

    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…

  11. Guiding the Family: Practical Counseling Techniques.

    Science.gov (United States)

    Grunwald, Bernice Bronia; McAbee, Harold V.

    This book, intended as a text for therapists and counselors in family counseling, is based on principles of Adlerian psychology. The first chapter examines Adlerian theory and family counseling. Basic principles of individual psychology are applied to family counseling, and the goals of children with disturbing behavior are discussed. Reasons why…

  12. Genetic determinants of heart failure: facts and numbers.

    Science.gov (United States)

    Czepluch, Frauke S; Wollnik, Bernd; Hasenfuß, Gerd

    2018-06-01

    The relevance of gene mutations leading to heart diseases and hence heart failure has become evident. The risk for and the course of heart failure depends on genomic variants and mutations underlying the so-called genetic predisposition. Genetic contribution to heart failure is highly heterogenous and complex. For any patient with a likely inherited heart failure syndrome, genetic counselling is recommended and important. In the last few years, novel sequencing technologies (named next-generation sequencing - NGS) have dramatically improved the availability of molecular testing, the efficiency of genetic analyses, and moreover reduced the cost for genetic testing. Due to this development, genetic testing has become increasingly accessible and NGS-based sequencing is now applied in clinical routine diagnostics. One of the most common reasons of heart failure are cardiomyopathies such as the dilated or the hypertrophic cardiomyopathy. Nearly 100 disease-associated genes have been identified for cardiomyopathies. The knowledge of a pathogenic mutation can be used for genetic counselling, risk and prognosis determination, therapy guidance and hence for a more effective treatment. Besides, family cascade screening for a known familial, pathogenic mutation can lead to an early diagnosis in affected individuals. At that timepoint, a preventative intervention could be used to avoid or delay disease onset or delay disease progression. Understanding the cellular basis of genetic heart failure syndromes in more detail may provide new insights into the molecular biology of physiological and impaired cardiac (cell) function. As our understanding of the molecular and genetic pathophysiology of heart failure will increase, this might help to identify novel therapeutic targets and may lead to the development of new and specific treatment options in patients with heart failure. © 2018 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of the European

  13. Genetic testing for colorectal carcinoma susceptibility: focus group responses of individuals with colorectal carcinoma and first-degree relatives.

    Science.gov (United States)

    Kinney, A Y; DeVellis, B M; Skrzynia, C; Millikan, R

    2001-01-01

    Colorectal carcinoma (CRC) may be the most frequent form of hereditary cancer. Genetic counseling and testing for heritable CRC is a promising approach for reducing the high incidence and mortality rates associated with the disease. Patients with CRC or those with at least one family member with the disease are the most likely persons to request or be offered genetic testing in the clinical or research setting. Currently, however, little is known about the behavioral, psychosocial, ethical, legal, and economic outcomes of CRC genetic counseling and testing. Eight focus group interviews, four for CRC patients (n = 28) and four for first-degree relatives (n = 33), were conducted to obtain insights into attitudes, beliefs, and informational needs about genetic testing for hereditary CRC. Focus group interviews revealed a general lack of knowledge about cancer genetics and genetic testing; worry about confidentiality issues; strong concern for family members, particularly children; and a need for primary care providers to be informed about these issues. Major perceived advantages of genetic testing included improving health-related decisions, guiding physicians in making recommendations for surveillance, and informing relatives about risk potential. Disadvantages included potential discrimination, adverse psychologic effects, and financial costs associated with testing. As knowledge and media coverage of genetics continue to expand, it becomes increasingly important to continue efforts on behalf of, and in partnership with, those individuals most affected by genetic testing for hereditary cancer syndromes. These findings provide data needed to develop and implement informational, educational, counseling, and research-oriented programs that are sensitive to individuals' concerns and preferences. Copyright 2001 American Cancer Society.

  14. GENETICS OF BREAST CANCER AND HORMONE REPLACEMENT THERAPY

    Directory of Open Access Journals (Sweden)

    Ksenija Geršak

    2008-12-01

    The findings of pharmacogenomic studies about polymorphisms in oestrogen synthesizingand metabolizing genes could have an important clinical value: before prescribing HRT,we would offer women genetic counselling and define their genotype. Thus, we would beable to organize an individualized postmenopausal period for each woman accordingly

  15. Nigerian Journal of Clinical and Counselling Psychology

    African Journals Online (AJOL)

    Nigerian Journal of Clinical and Counselling Psychology. ... paediatric and ethical aspects of the applied field of clinical and counselling psychology. The journal publishes contributions of research, clinical, counselling and theoretical interest.

  16. Genetics of hereditary neurological disorders in children.

    Science.gov (United States)

    Huang, Yue; Yu, Sui; Wu, Zhanhe; Tang, Beisha

    2014-04-01

    Hereditary neurological disorders (HNDs) are relatively common in children compared to those occurring in adulthood. Recognising clinical manifestations of HNDs is important for the selection of genetic testing, genetic testing results interpretation, and genetic consultation. Meanwhile, advances in next generation sequencing (NGS) technologies have significantly enabled the discovery of genetic causes of HNDs and also challenge paediatricians on applying genetic investigation. Combination of both clinical information and advanced technologies will enhance the genetic test yields in clinical setting. This review summarises the clinical presentations as well as genetic causes of paediatric neurological disorders in four major areas including movement disorders, neuropsychiatric disorders, neuron peripheral disorders and epilepsy. The aim of this review is to help paediatric neurologists not only to see the clinical features but also the complex genetic aspect of HNDs in order to utilise genetic investigation confidently in their clinical practice. A smooth transition from research based to clinical use of comprehensive genetic testing in HNDs in children could be foreseen in the near future while genetic testing, genetic counselling and genetic data interpretation are in place appropriately.

  17. A Qualitative Study of Anticipated Decision Making around Type 2 Diabetes Genetic Testing: the Role of Scientifically Concordant and Discordant Expectations.

    Science.gov (United States)

    Carmichael, Alicia G; Hulswit, Bailey B; Moe, Emily J; Jayaratne, Toby Epstein; Yashar, Beverly M

    2017-06-01

    Type 2 diabetes mellitus (T2DM) genetic testing is undergoing clinical trials to measure the efficacy of genetic counseling for behavior-based risk reduction. The expectations patients bring to the testing process may play an important role in individual outcomes. We conducted a qualitative exploration of anticipated decision-making and expectations around T2DM genetic testing. Semi-structured interviews were completed with Mexican Americans (n = 34), non-Hispanic Black Americans (n = 39), and non-Hispanic White Americans (n = 39) at risk for T2DM. Transcripts were analyzed for themes. Most participants would accept T2DM genetic testing in order to motivate risk-reducing behaviors or apprise family members of their risk. Participants who would decline testing wished to avoid emotional distress or believed the test would not reveal new risk information. Non-Hispanic Whites and those with college education declined genetic testing more often than other groups. Those without college education were more likely to have testing expectations that were discordant with current science, such as conflating genetic testing with common 'blood tests.' Understanding expectations and decision-making factors around T2DM genetic testing will better prepare healthcare professionals to counsel their patients. This may lead to a higher efficacy of T2DM genetic testing and counseling.

  18. The Validity And Reliability Of The Turkish Version Of The Online Counseling And Face ‐ To ‐ Face Counseling Attitudes Scale

    OpenAIRE

    İbrahim Demirci; Ali Haydar Şar; Abdullah Manap

    2014-01-01

    The purpose of this study is to examine the validity and reliability of the Turkish version of the Online Counseling Attitudes Scale (OCAS) and Face‐to‐Face Counseling Attitudes Scale (OCAS (Rochlen, Beretvas, & Zack, 2004). OCAS and FCAS loaded on four factors and the factors were named Value of Online Counseling (OC ‐ V), Discomfort with Online Counseling(OC‐D), Value of Face‐to‐Face Counseling (FC‐V) and Discomfort with Face ‐to‐Face Counseling (FC‐ D). The results of confir...

  19. Using a social marketing framework to evaluate recruitment of a prospective study of genetic counseling and testing for the deaf community.

    Science.gov (United States)

    Kobayashi, Yoko; Boudreault, Patrick; Hill, Karin; Sinsheimer, Janet S; Palmer, Christina G S

    2013-11-25

    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

  20. Between coaching and social counselling

    Directory of Open Access Journals (Sweden)

    Toni Vrana

    2012-03-01

    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.

  1. Molecular genetics of hemophilia A: Clinical perspectives

    African Journals Online (AJOL)

    Azza A.G. Tantawy

    Evaluation of an individual with a suspected bleeding disorder includes: platelet count .... information for genetic counseling of at-risk family members. It is indicated for ... Patients with blood group O and a low von Willebrand antigen level have a ..... [4] Husain N. Carrier analysis for hemophilia A: ideal versus acceptable.

  2. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Three mutations were associated with variable expressivity of the disease in different family members. Using this method, the detection rates achieved in patients with bilateral Rb were 44/53 (83%) and with unilateral Rb, 5/21 (23.8%). This approach may be feasible for clinical genetic testing and counselling of patients.

  3. The influence of acculturation and breast cancer-specific distress on perceived barriers to genetic testing for breast cancer among women of African descent.

    Science.gov (United States)

    Sussner, Katarina M; Thompson, Hayley S; Jandorf, Lina; Edwards, Tiffany A; Forman, Andrea; Brown, Karen; Kapil-Pair, Nidhi; Bovbjerg, Dana H; Schwartz, Marc D; Valdimarsdottir, Heiddis B

    2009-09-01

    Rising health disparities are increasingly evident in relation to use of genetic services (including genetic counseling and testing) for breast cancer risk, with women of African descent less likely to use genetic services compared with Whites. Meanwhile, little is known regarding potential within-group acculturation and psychological differences underlying perceived barriers to genetic testing among women of African descent. Hypothesized contributions of acculturation factors and breast cancer-specific distress to perceived barriers to genetic testing were examined with a statistical analysis of baseline data from 146 women of African descent (56% US born and 44% foreign born) meeting genetic breast cancer risk criteria and participating in a larger longitudinal study that included the opportunity for free genetic counseling and testing. Perceived barriers assessed included: (1) anticipation of negative emotional reactions, (2) stigma, (3) confidentiality concerns, (4) family-related worry, and (5) family-related guilt associated with genetic testing. In multivariate analyses, being foreign born was a significant predictor of anticipated negative emotional reactions about genetic testing (beta=0.26; SE=0.11; p=0.01). Breast cancer-specific distress scores (avoidance symptoms) were positively related to anticipated negative emotional reactions (beta=0.02; SE=0.005; p=barriers to genetic testing among women of African descent. The potential utility of culturally tailored genetic counseling services taking into account such influences and addressing emotional and psychological concerns of women considering genetic testing for breast cancer should be investigated.

  4. Counseling in the Elementary Feeder Schools.

    Science.gov (United States)

    Dunham, Virginia

    This brief paper presents the concept of transition counseling between a junior high school and its feeder school(s), designed to make the change from elementary into junior high less traumatic. Aside from routine sixth grade counseling, the counselors expanded their base of counseling to include all types of problems as well as all grade levels.…

  5. From clinical suspect to molecular confirmation of noonan syndrome; contribution of “best practice” genetic counseling and new technical possibilities

    Directory of Open Access Journals (Sweden)

    Bukvic Nenad

    2015-01-01

    Full Text Available Noonan syndrome (NS is an autosomal dominant disorder, characterized by variable expressivity of clinical features such as: postnatal growth reduction, congenital heart disease, characteristic facial dysmorphisms and development delay. In ~75% of all NS cases, germline mutations involving RAS-MAPK signaling pathway genes (PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF, SHOC2, MEK1, CBL are causative. We reported a case of 13-year-old girl [born at 36w by CS (BW 3250 g (~95°, BL 48 cm (~75°] referred for genetic counseling due to growth retardation, facial dysmorphisms, development delay and learning disability. After birth she presented frequent vomiting, with failure to thrive and at 5 months of age underwent surgery for intestinal malrotation. Because of short stature, Growth Hormone (GH therapy have been introduced at age of 3yrs up to 11yrs. Negative molecular testing for PTPN11 and SOS1 genes, normal female karyotype and aCGH analysis were observed. Objective examination: H 138 cm, (A; p.Val14Ile has been identified. Even though KRAS mutations are usually associated with NS severe phenotype with cardiac involvement (hypertrophic cardiomyopathy, this finding is not present in our patient.

  6. Nondirective counseling interventions with schizophrenics.

    Science.gov (United States)

    Gerwood, J B

    1993-12-01

    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.

  7. Ability of Saudi mothers to appropriately and accurately use dosing devices to administer oral liquid medications to their children

    Directory of Open Access Journals (Sweden)

    Almazrou S

    2014-12-01

    Full Text Available Saja Almazrou, Hind Alsahly, Huda Alwattar, Lamya Alturki, Mona Alamri Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia Background: Most liquid medications are packaged with administration devices, which may be used inappropriately or inaccurately, and sometimes are not used at all. Because of the importance of their proper use for children's health, this study was designed to assess Saudi mothers' experiences with measuring cups, syringes, and droppers for oral liquid medications; to compare accuracy of dosing across these devices; and to determine the effects of mothers' education statuses and pharmacist counseling on dosing accuracy. Methods: This was a cross-sectional study in which mothers were observed as they used a set of commonly available dosing devices which are a dosing cup, syringe, and dropper. Interviews were conducted in the outpatient pharmacy waiting area in several tertiary hospitals and primary clinics in Riyadh, Saudi Arabia between March and April 2013. Saudi women who were mothers of children aged 12 years old or younger and who gave their consent were eligible. Caregivers other than mothers and subjects with vision problems or cognitive/physical disabilities were excluded. We gathered demographic information such as age, number of children, and education status. Subjects were asked if they had had counseling on how to use measuring devices and which device they preferred. Then, the mothers were required to demonstrate how to measure 5 mL of paracetamol (acetaminophen syrup using a cup and a syringe and 1 mL of paracetamol syrup using a dropper. Dosing errors were evaluated visually as overdosing, underdosing, or no error (if the dose was accurate. The data were entered into Microsoft Excel and evaluated using Stata 11.1. Logistic regression was employed to determine relationships. Results: The results revealed that 58% of participants measured an accurate dose of paracetamol

  8. Empowering Lay-Counsellors with Technology: Masivukeni, a Standardized Multimedia Counselling Support Tool to Deliver ART Counselling.

    Science.gov (United States)

    Gouse, H; Robbins, R N; Mellins, C A; Kingon, A; Rowe, J; Henry, M; Remien, R H; Pearson, A; Victor, F; Joska, J A

    2018-05-19

    Lay-counsellors in resource-limited settings convey critical HIV- and ART-information, and face challenges including limited training and variable application of counselling. This study explored lay-counsellors and Department of Health (DoH) perspectives on the utility of a multimedia adherence counselling program. Masivukeni, an mHealth application that provides scaffolding for delivering standardized ART counselling was used in a 3-year randomized control trail at two primary health care clinics in Cape Town, South Africa. In this programmatic and descriptive narrative report, we describe the application; lay-counsellors' response to open-ended questions regarding their experience with using Masivukeni; and perspectives of the City of Cape Town and Western Cape Government DoH, obtained through ongoing engagements and feedback sessions. Counsellors reported Masivukeni empowered them to provide high quality counselling. DoH indicated strong support for a future implementation study assessing feasibility for larger scale roll-out. Masivukeni has potential as a counselling tool in resource-limited settings.

  9. Making Sense of Genetic Uncertainty: The Role of Religion and Spirituality

    OpenAIRE

    White, Mary T.

    2009-01-01

    This paper argues that to the extent that religious and spiritual beliefs can help people cope with genetic uncertainty, a limited spiritual assessment may be appropriate in genetic counseling. The paper opens by establishing why genetic information is inherently uncertain and why this uncertainty can be medically, morally, and spiritually problematic. This is followed by a review of the range of factors that can contribute to risk assessments, including a few heuristics commonly used in resp...

  10. Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation.

    Science.gov (United States)

    Vrecar, Irena; Peterlin, Borut; Teran, Natasa; Lovrecic, Luca

    2015-01-01

    Over the last few years, many private companies are advertising direct-to-consumer genetic testing (DTC GT), mostly with no or only minor clinical utility and validity of tests and without genetic counselling. International professional community does not approve provision of DTC GT and situation in some EU countries has been analysed already. The aim of our study was to analyse current situation in the field of DTC GT in Slovenia and related legal and ethical issues. Information was retrieved through internet search, performed independently by two authors, structured according to individual private company and the types of offered genetic testing. Five private companies and three Health Insurance Companies offer DTC GT and it is provided without genetic counselling. Available tests include testing for breast cancer, tests with other health-related information (complex diseases, drug responses) and other tests (nutrigenetic, ancestry, paternity). National legislation is currently being developed and Council of Experts in Medical Genetics has issued an opinion about Genetic Testing and Commercialization of Genetic Tests in Slovenia. Despite the fact that Slovenia has signed the Additional protocol to the convention on human rights and biomedicine, concerning genetic testing for health purposes, DTC GT in Slovenia is present and against all international recommendations. There is lack of or no medical supervision, clinical validity and utility of tests and inappropriate genetic testing of minors is available. There is urgent need for regulation of ethical, legal, and social aspects. National legislation on DTC GT is being prepared.

  11. Non-genetic health professionals' attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer.

    Science.gov (United States)

    Douma, Kirsten F L; Smets, Ellen M A; Allain, Dawn C

    2016-04-01

    Non-genetic health professionals (NGHPs) have insufficient knowledge of cancer genetics, express educational needs and are unprepared to counsel their patients regarding their genetic test results. So far, it is unclear how NGHPs perceive their own communication skills. This study was undertaken to gain insight in their perceptions, attitudes and knowledge. Two publically accessible databases were used to invite NGHPs providing cancer genetic services to complete a questionnaire. The survey assessed: sociodemographic attributes, experience in ordering hereditary cancer genetic testing, attitude, knowledge, perception of communication skills (e.g. information giving, decision-making) and educational needs. Of all respondents (N = 49, response rate 11%), most have a positive view of their own information giving (mean = 53.91, range 13-65) and decision making skills (64-77% depending on topic). NGHPs feel responsible for enabling disease and treatment related behavior (89-91%). However, 20-30% reported difficulties managing patients' emotions and did not see management of long-term emotions as their responsibility. Correct answers on knowledge questions ranged between 41 and 96%. Higher knowledge was associated with more confidence in NGHPs' own communication skills (r(s) = .33, p = 0.03). Although NGHPs have a positive view of their communication skills, they perceive more difficulties managing emotions. The association between less confidence in communication skills and lower knowledge level suggests awareness of knowledge gaps affects confidence. NGHPs might benefit from education about managing client emotions. Further research using observation of actual counselling consultations is needed to investigate the skills of this specific group of providers.

  12. Preliminary program evaluation of emergency department HIV prevention counseling.

    Science.gov (United States)

    Sitlinger, Andrea P; Lindsell, Christopher J; Ruffner, Andrew H; Wayne, D Beth; Hart, Kimberly W; Trott, Alexander T; Fichtenbaum, Carl J; Lyons, Michael S

    2011-07-01

    Controversy surrounds the linkage of prevention counseling with emergency department (ED)-based HIV testing. Further, the effectiveness and feasibility of prevention counseling in the ED setting is unknown. We investigate these issues by conducting a preliminarily exploration of several related aspects of our ED's HIV prevention counseling and testing program. Our urban, academic ED provides formal client-centered prevention counseling in conjunction with HIV testing. Five descriptive, exploratory observations were conducted, involving surveys and analysis of electronic medical records and programmatic data focused on (1) patient perception and feasibility of prevention counseling in the ED, (2) patient perceptions of the need to link prevention counseling with testing, and (3) potential effectiveness of providing prevention counseling in conjunction with ED-based HIV testing. Of 110 ED patients surveyed after prevention counseling and testing, 98% believed privacy was adequate, and 97% reported that their questions were answered. Patients stated that counseling would lead to improved health (80%), behavioral changes (72%), follow-up testing (77%), and discussion with partners (74%). However, 89% would accept testing without counseling, 32% were willing to seek counseling elsewhere, and 26% preferred not to receive the counseling. Correct responses to a 16-question knowledge quiz increased by 1.6 after counseling (95% confidence interval 1.3 to 12.0). The program completed counseling for 97% of patients tested; however, 6% of patients had difficulty recalling the encounter and 13% denied received testing. Among patients undergoing repeated testing, there was no consistent change in self-reported risk behaviors. Participants in the ED prevention counseling and testing program considered counseling acceptable and useful, though not required. Given adequate resources, prevention counseling can be provided in the ED, but it is unlikely that all patients benefit

  13. Sexual counseling and cardiovascular disease: practical approaches

    Directory of Open Access Journals (Sweden)

    Elaine E Steinke

    2015-02-01

    Full Text Available Patients with cardiovascular disease and their partners expect health care providers to provide sexual counseling to assist them in maintaining sexual quality of life. Evidence suggests however, that there is a gap in integrating evidence into practice and that relatively few cardiac patients receive sexual counseling. This can result in negative psychological, physical, and quality of life outcomes for couples who may needlessly decide sexual activity is too risky and cease all sexual activity. Two scientific statements now exist that provide ample guidance to health care providers in discussing this important topic. Using a team approach that includes physicians, nurses, physical therapists, rehabilitation staff, and others is important to ensure that sexual counseling occurs throughout recovery. In addition, several trials using interventional approaches for sexual counseling provide insight into successful approaches for sexual counseling in practice. This article provides practical strategies and evidence-based approaches for assessment and sexual counseling for all cardiac patients and their partners, and specific counseling for those with ischemic conditions, heart failure, and implanted devices.

  14. A Clinical Perspective on Ethical Issues in Genetic Testing

    NARCIS (Netherlands)

    Sijmons, R. H.; Van Langen, I. M.; Sijmons, J. G.

    2011-01-01

    Genetic testing is traditionally preceded by counselling to discuss its advantages and disadvantages with individuals so they can make informed decisions. The new technique of whole genome or exome sequencing, which is currently only used in research settings, can identify many gene mutations,

  15. Facilitating Online Counseling: Perspectives from Counselors in Training

    Science.gov (United States)

    Haberstroh, Shane; Parr, Gerald; Bradley, Loretta; Morgan-Fleming, Barbara; Gee, Robert

    2008-01-01

    To address the need for research regarding online counseling, the authors explore the experiences of 4 female and 2 male Caucasian counseling students who facilitated 5 chat-based online counseling sessions. Conducting semistructured interviews based in grounded theory methods, the authors discuss technological barriers, counseling without visual…

  16. Psychosocial Aspects of ART Counseling: A Comparison of HIV Beliefs and Knowledge in PMTCT and ART-Naïve Women.

    Science.gov (United States)

    Gouse, Hetta; Henry, Michelle; Robbins, Reuben N; Lopez-Rios, Javier; Mellins, Claude A; Remien, Robert H; Joska, John A

    Antiretroviral therapy (ART)-readiness counseling has been deemed critical to adherence, instilling knowledge, and promoting positive beliefs and attitudes. In the landscape of changing policy in South Africa, some ART initiators have had prior ART-readiness counseling (e.g., for prevention-of-mother-to-child-transmission [PMTCT] programs). The extent to which previous counseling resulted in retained knowledge and belief is unknown, which may be important to the promotion of women's ART adherence. We compared 320 women living with HIV and initiating ART, with and without prior PMTCT on HIV knowledge, treatment, beliefs, and attitudes. The PMTCT group held more accurate beliefs and more positive attitudes about ART. Both groups lacked understanding of basic HIV biology. Nondisclosure of HIV status was high. Thus, in individuals re-initiating therapy, some knowledge about HIV and its treatment was not well retained. Tailored education and counseling may be critical to adherence, with a focus on biological concepts that impact ART resistance. Copyright © 2017 Association of Nurses in AIDS Care. Published by Elsevier Inc. All rights reserved.

  17. Beyond spaces of counselling

    DEFF Research Database (Denmark)

    Bank, Mads; Nissen, Morten

    2017-01-01

    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...

  18. Kierkegaard's Philosophy: Implications for Counseling.

    Science.gov (United States)

    Dopson, Lorraine; Gade, Eldon

    1981-01-01

    Discusses how the philosophy of Soren Kierkegaard can provide useful guidelines for the study of the counseling process. Compares Kierkegaard's philosophy with selected contributions of Freud, Skinner, Rogers, and May and with four common themes of counseling and psychotherapy. (Author)

  19. 25 CFR 36.42 - Standard XV-Counseling services.

    Science.gov (United States)

    2010-04-01

    ... the students being served; (iii) Preventative and crisis counseling on both individual and group bases... 25 Indians 1 2010-04-01 2010-04-01 false Standard XV-Counseling services. 36.42 Section 36.42... § 36.42 Standard XV—Counseling services. Each school shall offer student counseling services concerned...

  20. Cultural Values, Counseling Stigma, and Intentions to Seek Counseling among Asian American College Women

    Science.gov (United States)

    Miville, Marie L.; Constantine, Madonna G.

    2007-01-01

    The authors explored the extent to which Asian American college women's perceived stigma about counseling mediated the relationship between their adherence to Asian cultural values and intentions to seek counseling, Participants, 201 Asian American college women (age range = 18-24 years), completed measures of Asian cultural values, perceived…

  1. Marriage Counselling in Multicultural Society, Nigerian Experience ...

    African Journals Online (AJOL)

    This paper discusses marriage counselling in Multicultural society: Nigerian experience. The researcher sees Multicultural Counselling as a helping relationship, which involves two or more persons with different culture, beliefs and environment. The paper discusses how multicultural counselling can be applied in marriage ...

  2. BIBLIO COUNSELING TO REDUCE THE EFFECTIVENESS OF STUDENT academic procrastination FORCE OF GUIDANCE AND COUNSELING

    Directory of Open Access Journals (Sweden)

    Erik Teguh Prakoso

    2017-12-01

    The results showed that based on the analysis of different test Wilcoxon between pretest and posttest generate value significant (two-tailed <0.05 is 0.043, which means the provision of treatment through counseling biblio effective to reduce the level of student academic procrastination. Based on the results of data presentation can be concluded that the study subjects experienced the difference after the treatment is done, so it can be said that the biblio effective counseling to reduce the level of academic procrastination. Keywords: Academic Procrastination, Biblio counseling

  3. The Clinical and Client-Centered Approach to Counseling.

    Science.gov (United States)

    Rivas, Richard G.

    This review analyzes the clinical and client-centered approaches to counseling. Clinical counseling separated from vocational counseling in the third decade of this century. A split took place between guidance and discipline. The mental hygiene movement facilitated this split. In 1942 Carl Rogers made an impact on counseling theory with the…

  4. Genetic Counselling for Predictive Testing in Huntington's Disease in One Centre since 1993. Gender-Specific Aspects of Decision-Making.

    Science.gov (United States)

    Arning, Larissa; Witt, Constantin N; Epplen, Jörg T; Stemmler, Susanne

    2015-01-01

    The discovery of the mutation causing Huntington's disease (HD) in 1993 allowed direct mutation analysis and predictive testing to identify currently unaffected carriers with a sensitivity and specificity of virtually 100%. The present study was designed to comprehensively profile the participants who sought predictive testing for HD between 1993 and 2009 in our Huntington centre. Using a retrospective design, we analysed the written documentation of the counselling sessions for all referrals for predictive mutation testing in this time span. Six hundred sixty-three individuals at risk for HD requested predictive testing. Roughly half (n = 333) completed the protocol and received their test result. In general our findings are in accordance with other reports: most participants share an a priori risk of 50% (91.1%); more females request testing (58.5%); and those who ask for the result are mostly in their 30 s (mean = 35.1 years). Of those at 50% or 25% prior risks, 47.4% and 22.7%, respectively, tested positive in accordance with the respective risk of inheriting HD. Generally, more participants with an affected mother than father sought genetic testing (52.5% versus 47.5%). Interestingly, this difference was especially evident in the group of females who finally withdrew from testing (59.1%, p = 0.040). Men, in particular those who decided in favour of the test, were more often accompanied by their partner in the pre-test counselling session than vice versa (67.9% versus 44.7%, p = 0.003). On the other hand, significantly more men who were being tested did not have a companion in the pre-test session as compared with men who decided against the test (40.0% versus 25.7%, p = 0.012). During the first four years of predictive testing (1993–1996) more participants completed the protocol and received their test result as in later years. Yet, in this early time span significantly fewer females finally decided in favour of the test (48.4%, p = 0.005). These findings

  5. Physical Attractiveness and Counseling Skills.

    Science.gov (United States)

    Vargas, Alice M.; Borkowski, John G.

    1982-01-01

    Searched for interaction between quality of counseling skills (presence or absence of empathy, genuineness, and positive regard) and physical attractiveness as determinants of counseling effectiveness. Attractiveness influenced perceived effectiveness of counselor's skill. Analyses of expectancy data revealed that only with good skills did…

  6. Oedipal Issues in Counseling Psychology.

    Science.gov (United States)

    Thomas, Kenneth R.

    1991-01-01

    Analyzes current status of counseling psychology from perspective of Freudian, drive-structure theory. Argues that counseling psychology has committed classical response to oedipal conflict in its treatment of counselor education by identifying with aggressor (psychiatry and clinical psychology). Recommends more unified relationship between…

  7. Hypopituitarism in Children. Modern Laboratory and Genetic Diagnosis

    Directory of Open Access Journals (Sweden)

    Ye.V. Hloba

    2016-04-01

    Full Text Available The lecture presents the current international guidelines on the diagnosis of hypopituitarism in children, in particular the rules of stimulation tests for the diagnosis of growth hormone deficiency, secondary hypogonadism and hypocorticism. It is recommended to use the anti-Müllerian hormone and inhibin B to diagnose different forms of hypogonadism. Genetic methods are also recommended to make a correct diagnosis, to prescribe a proper treatment and to provide a medical and genetic counseling of family members.

  8. Counselling in infertility: individual, couple and group interventions.

    Science.gov (United States)

    Van den Broeck, Uschi; Emery, Marysa; Wischmann, Tewes; Thorn, Petra

    2010-12-01

    Infertility is considered a biopsychosocial crisis and infertility counselling is recommended as an integral part of a multidisciplinary approach. This article will outline the theoretical background and describe common interventions used in infertility counselling for individuals, couples and in a group setting. This article summarizes the proceedings of the first campus workshop of the Special interest group of Psychology and Counselling of the European Society for Human Reproduction and Embryology (ESHRE). Infertility counselling offers the opportunity to explore, discover and clarify ways of living more satisfyingly and resourcefully when fertility impairments have been diagnosed. The Heidelberg Fertility Consultation Service is presented as a framework for individual and couples counselling and highlights important issues in counselling patients. For group work a number of steps to set up a group within an infertility framework are discussed. In recent years, infertility counselling has become a specialist form of counselling requiring professional expertise and qualification. Key issues and common interventions are presented to raise awareness for the specific counselling needs of individuals and couples experiencing infertility and undergoing medical treatment. Mental health professionals new to the field of reproductive technologies as well as those in other areas of mental health counselling clients with fertility disorders can benefit from the topics addressed. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  9. Evaluation of the FOCUS (Feedback on Counseling Using Simulation) instrument for assessment of client-centered nutrition counseling behaviors.

    Science.gov (United States)

    Henry, Beverly W; Smith, Thomas J

    2010-01-01

    To develop an instrument to assess client-centered counseling behaviors (skills) of student-counselors in a standardized patient (SP) exercise. Descriptive study of the accuracy and utility of a newly developed counseling evaluation instrument. Study participants included 11 female student-counselors at a Midwestern university-10 Caucasian, 1 African-American-for the simulated counseling sessions, in which the Feedback on Counseling Using Simulation (FOCUS) instrument was applied in 2 SP scenarios (cardiovascular disease and diabetes). FOCUS ratings of student-counselors by 4 SPs during 22 sessions were compared with ratings from a 3-member panel of experts who independently viewed the 22 videotaped sessions. Quantitative analysis of instrument validity included inter-rater reliability by computing generalizability coefficients, Pearson correlations, and Spearman rank-order correlations. FOCUS criteria encompassed relevant dimensions of nutrition counseling based in a client-centered perspective. The critical points of information gathering and counseling behaviors showed internal consistency overall and good inter-rater reliability with the cardiovascular disease scenario. For both scenarios, pooled ratings of 3 experts agreed with ratings carried out by SPs. Initial findings suggest that the FOCUS instrument with client-centered criteria may enhance evaluation of counseling skills in SP exercises, meriting further study with larger groups.

  10. FEATURES OF STUDENT PSYCHOLOGICAL COUNSELLING

    Directory of Open Access Journals (Sweden)

    Maria Dorina PASCA

    2013-10-01

    Full Text Available Student psychological counseling is one of the means to acknowledge student identity by employing counseling tools that allow the psychologist to make use of a set of skills essential in achieving envisaged outcomes. To act as counseling psychologist for students is to guide actions by the five wh- questions: who (the client is, why (the counselor is approached, who (the counselor talks to, what (problem the student has to tackle, how (the problem can be solved. Some of the most important features that contribute to solving student problems are the counselor’s deontology, trustworthiness and attitude that are to be relied on without impeding the client’s personality traits. Thus, developing awareness of the features underlying student psychological counseling and acting accordingly is the real test for any professional in the field. Therefore, the real challenge is not being in the lion’s den, but living with it.

  11. Counselling Psychology in South Africa.

    Science.gov (United States)

    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.

  12. Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

    Directory of Open Access Journals (Sweden)

    Swati Tomar

    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

  13. 249 Marriage Counselling in Multicultural Society, Nigerian ...

    African Journals Online (AJOL)

    User

    2012-01-24

    Jan 24, 2012 ... The researcher sees Multicultural Counselling as a helping relationship, which involves two or more ... pastors and elders in the counselling profession. Some recommendations were made as ... Multicultural counselling is a helping relationship which involves two or more persons with different culture, ...

  14. A national benchmarking survey of student counselling centres/units ...

    African Journals Online (AJOL)

    The present study further found that the majority of counselling centres/units had one or more staff members with specialised training in areas such as HIV/AIDS counselling, sexual abuse counselling and multicultural counselling. In 2007, these counselling centres/units saw on average 18 per cent of enrolled students as ...

  15. Content Analysis of Acculturation Research in Counseling and Counseling Psychology: A 22-Year Review

    Science.gov (United States)

    Yoon, Eunju; Langrehr, Kimberly; Ong, Lee Za

    2011-01-01

    The authors conducted a 22-year (1988-2009) content analysis of quantitative empirical research that included acculturation and/or enculturation as a study variable(s). A total of 138 studies in 134 articles were systematically evaluated from 5 major American Psychological Association and American Counseling Association journals in counseling and…

  16. 17 CFR 200.21a - The Ethics Counsel.

    Science.gov (United States)

    2010-04-01

    ... 17 Commodity and Securities Exchanges 2 2010-04-01 2010-04-01 false The Ethics Counsel. 200.21a...; CONDUCT AND ETHICS; AND INFORMATION AND REQUESTS Organization and Program Management General Organization § 200.21a The Ethics Counsel. (a) The Ethics Counsel within the Office of the General Counsel of the...

  17. The "Journal of College Counseling" Turns 20: Celebrating Two Decades of Advancing College Counseling Theory, Research, and Practice

    Science.gov (United States)

    Watson, Joshua C.

    2017-01-01

    This issue marks the beginning of the "Journal of College Counseling"'s 20th volume. For 2 decades, the journal has served as a trusted resource for college counseling researchers and practitioners working with a diverse mix of college and university students at 2- and 4-year institutions worldwide. Reaching this milestone is a…

  18. Sociolinguistics and the Counselling Process

    Science.gov (United States)

    Conville, Richard L.; Ivey, Allen E.

    1975-01-01

    Sociolinguistics is the study of language as part of culture and society. Counselling, basically a linguistic-communicative process, has too often failed to consider systematic knowledge from related fields. This article discusses basic concepts of sociolinguistics and considers their relation to the counselling process. (Author)

  19. Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue

    DEFF Research Database (Denmark)

    Petersen, Annabeth Høgh; Jørgensen, Mads Malik Aagaard; Nielsen, Henriette Roed

    2016-01-01

    Accurate estimation of cancer risk in HBOC families often requires BRCA1/2 testing, but this may be impossible in deceased family members. Previous, testing archival formalin-fixed, paraffin-embedded (FFPE) tissue for germline BRCA1/2 variants was unsuccessful, except for the Jewish founder mutat...... samples from non-tumor tissue. Accurate genetic counseling is achievable in families where variant testing would otherwise be impossible.European Journal of Human Genetics advance online publication, 6 January 2016; doi:10.1038/ejhg.2015.268....

  20. 75 FR 32496 - Housing Counseling Outcomes Study

    Science.gov (United States)

    2010-06-08

    ... counseling agencies seeking assistance to either purchase a home (pre-purchase clients) or to resolve or... months following the recipt of counseling to complete a survey about their conseling experience and their...-funded housing counseling agencies seeking assistance to either purchase a home (pre-purchase clients) or...

  1. [Teenager counselling in primary care].

    Science.gov (United States)

    Millán, Teresa; Morera, Iván; Vargas, Nelson A

    2007-04-01

    Teenager counseling to recognize risks and reinforce strengths is carried out in a primary care outpatient clinic since 2003. To describe the epidemiology and causes for consultation in this teenage counseling program. Retrospective review of the records of 116 teenagers (median age 13 years, 67% females) that received teenager counseling. Seventy percent of women and 50% of men came from nuclear families. More than two thirds were primogenital. Most adolescents were accompanied by their mother, that were the main adult raw model. Fifty percent had dysfunctional families. All were attending school regularly and 21% of women and 29% of men had repeated a school level. Sixty eight percent of women and 62% of men declared to have a life project. Twenty percent were worried about their physical appearance. Seventy seven percent of women and 62% of men considered themselves as happy. Thirty six percent of women and 14% of men smoked. The figures for alcohol consumption were 21% and 14%, respectively. The causes for consultation were obesity, overweight, unspecific symptoms, behavioral problems, bad school achievement, communication problems or pregnancy. Reasons for counseling were family dysfunction, low self esteem, bad school achievement and information about sexuality. The information obtained could help to improve the interdisciplinary work and to coordinate counseling with the family and schools.

  2. Routine counseling about intrauterine contraception for women seeking emergency contraception.

    Science.gov (United States)

    Schwarz, E Bimla; Papic, Melissa; Parisi, Sara M; Baldauf, Erin; Rapkin, Rachel; Updike, Glenn

    2014-07-01

    To compare contraceptive knowledge and use among women seeking emergency contraception (EC) before and after an inner-city clinic began providing structured counseling and offering same-day intrauterine device (IUD) or implant placement to all women seeking EC. For 8 months before and 21 months after this change in clinic policy, women aged 15-45 who wanted to avoid pregnancy for at least 6 months were asked to complete surveys immediately, 3 and 12 months after their clinic visit. In addition, we abstracted electronic medical record (EMR) data on all women who sought EC (n=328) during this period. We used chi-squared tests to assess pre/post differences in survey and EMR data. Surveys were completed by 186 women. After the clinic began offering structured counseling, more women had accurate knowledge of the effectiveness of IUDs, immediately and 3 months after their clinic visit. In addition, more women initiated IUD or implant use (survey: 40% vs. 17% preintervention, p=0.04; EMR: 22% vs. 10% preintervention, p=0.01), and fewer had no contraceptive use (survey: 3% vs. 17% preintervention, pcontraceptives with the option of same-day contraceptive placement. Copyright © 2014 Elsevier Inc. All rights reserved.

  3. Professional Counseling in Taiwan: Past to Future

    Science.gov (United States)

    Guo, Yuh-Jen; Wang, Shu-Ching; Combs, Don C.; Lin, Yi-Chun; Johnson, Veronica

    2013-01-01

    Because of the recent introduction of a licensure law, professional counseling has grown rapidly in Taiwan after decades of slow development. The authors provide a historical review of the development of professional counseling in Taiwan and discuss the current status and future trajectory of professional counseling in Taiwan.

  4. 24 CFR 904.105 - Counseling of homebuyers.

    Science.gov (United States)

    2010-04-01

    ... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false Counseling of homebuyers. 904.105... DEVELOPMENT LOW RENT HOUSING HOMEOWNERSHIP OPPORTUNITIES Turnkey III Program Description § 904.105 Counseling of homebuyers. The LHA shall provide counseling and training as provided in subpart C of this part...

  5. The genetics of anophthalmia and microphthalmia.

    Science.gov (United States)

    Bardakjian, Tanya M; Schneider, Adele

    2011-09-01

    To summarize recent breakthroughs regarding the genes known to play a role in normal ocular development in humans and to elucidate the role mutations in these genes play in anophthalmia and microphthalmia. The main themes discussed within this article are the various documented genetic advances in identifying the various causes of anophthalmia and microphthalmia. In addition, the complex interplay of these genes during critical embryonic development will be addressed. The recent identification of many eye development genes has changed the ability to identify a cause of anophthalmia and microphthalmia in many individuals. Syndrome identification and the availability of genetic testing underscores the desirability of evaluation by a geneticist for all individuals with anophthalmia and microphthalmia in order to provide appropriate management, long-term guidance, and genetic counseling.

  6. Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in Taiwan

    Directory of Open Access Journals (Sweden)

    Yong-Lin Foo

    2015-08-01

    Full Text Available This review article aims to introduce the screening and referral network of genetic evaluation for children with developmental delay in Taiwan. For these children, integrated systems provide services from the medical, educational, and social welfare sectors. All cities and counties in Taiwan have established a network for screening, detection, referral, evaluation, and intervention services. Increased awareness improves early detection and intervention. There remains a gap between supply and demand, especially with regard to financial resources and professional manpower. Genetic etiology has a major role in prenatal causes of developmental delay. A summary of reports on some related genetic disorders in the Taiwanese population is included in this review. Genetic diagnosis allows counseling with regard to recurrence risk and prevention. Networking with neonatal screening, laboratory diagnosis, genetic counseling, and orphan drugs logistics systems can provide effective treatment for patients. In Taiwan, several laboratories provide genetic tests for clinical diagnosis. Accessibility to advanced expensive tests such as gene chips or whole exome sequencing is limited because of funding problems; however, the service system in Taiwan can still operate in a relatively cost-effective manner. This experience in Taiwan may serve as a reference for other countries.

  7. Ethical and legal issues arising from complex genetic disorders. DOE final report

    Energy Technology Data Exchange (ETDEWEB)

    Andrews, Lori

    2002-10-09

    The project analyzed the challenges raised by complex genetic disorders in genetic counselling, for clinical practice, for public health, for quality assurance, and for protection against discrimination. The research found that, in some settings, solutions created in the context of single gene disorders are more difficult to apply to complex disorders. In other settings, the single gene solutions actually backfired and created additional problems when applied to complex genetic disorders. The literature of five common, complex genetic disorders--Alzheimer's, asthma, coronary heart disease, diabetes, and psychiatric illnesses--was evaluated in depth.

  8. Counselling Psychology in South Africa

    Science.gov (United States)

    Bantjes, Jason; Kagee, Ashraf; Young, Charles

    2016-01-01

    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

  9. Enhancing the Evidence for Behavioral Counseling

    Science.gov (United States)

    Alcántara, Carmela; Klesges, Lisa M.; Resnicow, Ken; Stone, Amy; Davidson, Karina W.

    2015-01-01

    U.S. Preventive Services Task Force (USPSTF) clinical guidelines at present rarely assign the highest grade recommendation to behavioral counseling interventions for chronic disease prevention or risk reduction because of concerns about the certainty and quality of the evidence base. As a result, the broad integration of behavioral counseling interventions in primary care remains elusive. Thus, there is an urgent need for novel perspectives on how to generate the highest-quality and -certainty evidence for primary care–focused behavioral counseling interventions. As members of the Society of Behavioral Medicine (SBM)—a multidisciplinary scientific organization committed to improving population health through behavior change—we review the USPSTF mandate and current recommendations for behavioral counseling interventions, and provide a perspective for the future that calls for concerted and coordinated efforts among SBM, USPSTF, and other organizations invested in the rapid and wider uptake of beneficial, feasible, and referable primary care–focused behavioral counseling interventions. This perspective highlights five areas for further development, including: (1) behavioral counseling–focused practice-based research networks; (2) promotion of USPSTF evidence standards and the increased use of pragmatic RCT design; (3) quality control and improvement procedures for behavioral counseling training; (4) systematic research on effective primary care–based collaborative care models; and (5) methodologic innovations that capitalize on disruptive technologies and healthcare transformation. Collective efforts to improve the health of all Americans in the 21st century and beyond must ensure that effective, feasible, and referable behavioral counseling interventions are embedded in modern primary care practice. PMID:26296553

  10. Cancer Counseling of Low-Income Limited English Proficient Latina Women Using Medical Interpreters: Implications for Shared Decision-Making.

    Science.gov (United States)

    Kamara, Daniella; Weil, Jon; Youngblom, Janey; Guerra, Claudia; Joseph, Galen

    2018-02-01

    In cancer genetic counseling (CGC), communication across language and culture challenges the model of practice based on shared decision-making. To date, little research has examined the decision-making process of low-income, limited English proficiency (LEP) patients in CGC. This study identified communication patterns in CGC sessions with this population and assessed how these patterns facilitate or inhibit the decision-making process during the sessions. We analyzed 24 audio recordings of CGC sessions conducted in Spanish via telephone interpreters at two public hospitals. Patients were referred for risk of hereditary breast and ovarian cancer; all were offered genetic testing. Audio files were coded by two bilingual English-Spanish researchers and analyzed using conventional content analysis through an iterative process. The 24 sessions included 13 patients, 6 counselors, and 18 interpreters. Qualitative data analyses identified three key domains - Challenges Posed by Hypothetical Explanations, Misinterpretation by the Medical Interpreter, and Communication Facilitators - that reflect communication patterns and their impact on the counselor's ability to facilitate shared decision-making. Overall, we found an absence of patient participation in the decision-making process. Our data suggest that when counseling LEP Latina patients via medical interpreter, prioritizing information with direct utility for the patient and organizing information into short- and long-term goals may reduce information overload and improve comprehension for patient and interpreter. Further research is needed to test the proposed counseling strategies with this population and to assess how applicable our findings are to other populations.

  11. A Framework for Chaos Theory Career Counselling

    Science.gov (United States)

    Pryor, Robert G. L.

    2010-01-01

    Theory in career development counselling provides a map that counsellors can use to understand and structure the career counselling process. It also provides a means to communicate this understanding and structuring to their clients as part of the counselling intervention. The chaos theory of careers draws attention to the complexity,…

  12. 10 CFR 850.37 - Training and counseling.

    Science.gov (United States)

    2010-01-01

    ... 10 Energy 4 2010-01-01 2010-01-01 false Training and counseling. 850.37 Section 850.37 Energy... Training and counseling. (a) The responsible employer must develop and implement a beryllium training... implement a counseling program to assist beryllium-associated workers who are diagnosed by the SOMD to be...

  13. WHO HAS TO UNDERGO CANCER GENETIC TESTING? A PERSPECTIVE.

    Directory of Open Access Journals (Sweden)

    Carmen Rinaldi

    2017-10-01

    Full Text Available Genetic testing is a medical tool employed to screen changes in genes linked to cancer and other genetic diseases. Genetic tests are available for breast, ovarian, colon, thyroid, and some other cancers and they represent the main tool for early identification of the “risk” subjects. The choice to undergo genetic testing by a healthy or affected cancer patient with family history of the cancer has to be the fruit of a careful and prudent assessment of the advantages and disadvantages discussed during oncogenetic counselling. The latter, in turn, in the case of a patient's positive and informed choice, must constantly affiliate the genetic testing, in order to preserve the prediction and information role of the test as much as possible.

  14. Genetics in Ophthalmology III – Posterior Segment Diseases

    Directory of Open Access Journals (Sweden)

    Canan Aslı Utine

    2012-10-01

    Full Text Available Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field of genetics science. It becomes increasingly important that physicians from all disciplines have knowledge about the basic principles of genetics, patterns of inheritance, etc., so that they can follow the new developments. In genetic eye diseases, ophthalmologists should know the basic clinical and recently rapidly developing genetic characteristics of these diseases in order to properly approach the diagnosis and treatment and to provide genetic counseling. In this paper, posterior segment eye diseases of genetic origin are reviewed, and retinoblastoma, mitochondrial diseases, retinal dysplasia, retinitis pigmentosa, choroideremia, gyrate atrophy, Alström disease, ocular albinism, optic nerve hypoplasia, anophthalmia/microphthalmia and Leber’s congenital amaurosis are covered. (Turk J Ophthalmol 2012; 42: 386-92

  15. Perceived Public Stigma and the Willingness to Seek Counseling: The Mediating Roles of Self-Stigma and Attitudes toward Counseling

    Science.gov (United States)

    Vogel, David L.; Wade, Nathaniel G.; Hackler, Ashley H.

    2007-01-01

    This study examined the mediating effects of the self-stigma associated with seeking counseling and attitudes toward seeking counseling on the link between perceived public stigma and willingness to seek counseling for psychological and interpersonal concerns. Structural equation modeling of data from 676 undergraduates indicated that the link…

  16. Mindfulness-Based Interventions in Counseling

    Science.gov (United States)

    Brown, Amanda P.; Marquis, Andre; Guiffrida, Douglas A.

    2013-01-01

    Mindfulness is a relatively new construct in counseling that is rapidly gaining interest as it is applied to people struggling with a myriad of problems. Research has consistently demonstrated that counseling interventions using mindfulness improve well-being and reduce psychopathology. This article provides a detailed definition of mindfulness,…

  17. Clinical and ethical implications of genetic counselling in familial adenomatous polyposis Implicaciones clínicas y éticas del consejo genético en la poliposis adenomatosa familiar

    Directory of Open Access Journals (Sweden)

    A. Fernández-Suárez

    2005-09-01

    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

  18. Globalization and Counseling: Professional Issues for Counselors

    Science.gov (United States)

    Lorelle, Sonya; Byrd, Rebekah; Crockett, Stephanie

    2012-01-01

    Scholars have examined globalization for many years in terms of its impact on individuals, but it remains a concept not often discussed in the counseling literature. As counseling transforms from a Western-based practice to a global phenomenon, it is important to understand professional counseling within an international and multicultural context.…

  19. Counseling in Switzerland: Past, Present, and Future

    Science.gov (United States)

    Thomas, Roslyn; Henning, Stacy

    2012-01-01

    The authors review counseling in Switzerland and compare it with counseling in the United States. They evaluate the role of professional associations and programs and argue that the evolution of counseling is situated within the history and economic, social, and political systems of Switzerland. Findings suggest that Swiss counselors are ready to…

  20. Active-learning instruction on emergency contraception counseling.

    Science.gov (United States)

    Young, Shardae; Griffin, Brooke; Vest, Kathleen

    2013-06-12

    To increase pharmacy students' knowledge of and confidence in counseling patients regarding emergency contraception and to identify any barriers to counseling patients about emergency contraception. Approximately 200 third-year pharmacy students participated in the Women's Health Therapeutics workshop at Midwestern University Chicago College of Pharmacy. Students observed a 5-minute skit of a counseling session on emergency contraception and then were asked to pair up with a classmate and practice counseling each other regarding the use of emergency contraception following a checklist of key points. One hundred eighty-nine students completed pre- and post-workshop survey instruments. Students' knowledge scores increased from 86% to 93% (pemergency contraception before completing the active-learning exercise compared to 58.5% after (pemergency contraception and significantly reduced several barriers to counseling identified prior to participation.

  1. Adlerian Counseling for Parent Education.

    Science.gov (United States)

    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…

  2. School Counseling in China Today

    Science.gov (United States)

    Thomason, Timothy C.; Qiong, Xiao

    2008-01-01

    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…

  3. Group Counseling for Navy Children.

    Science.gov (United States)

    Mitchum, Nancy Taylor

    1991-01-01

    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…

  4. Eugenics, Genetics, and the Minority Group Model of Disabilities: Implications for Social Work Advocacy

    Science.gov (United States)

    O'Brien, Gerald V.

    2011-01-01

    In the United States, genetic research, as well as policy and practice innovations based on this research, has expanded greatly over the past few decades. This expansion is indicated, for example, by the mapping of the human genome, an expansion of genetic counseling, and other biogenetic research. Also, a disability rights movement that in many…

  5. Racial Group Membership and Multicultural Training: Examining the Experiences of Counseling and Counseling Psychology Students

    Science.gov (United States)

    Pieterse, Alex L.; Lee, Minsun; Fetzer, Alexa

    2016-01-01

    This study documents various process elements of multicultural training from the perspective of counseling and counseling psychology students within the United States (US). Using a mixed-methods approach, findings indicate that racial group membership is an important variable that differentially impacts White students and students of Color while…

  6. Cultural humility and racial microaggressions in counseling.

    Science.gov (United States)

    Hook, Joshua N; Farrell, Jennifer E; Davis, Don E; DeBlaere, Cirleen; Van Tongeren, Daryl R; Utsey, Shawn O

    2016-04-01

    Racial microaggressions may contribute to poor counseling outcomes in racial/ethnic minority clients. The present study examined the occurrence of racial microaggressions in counseling using a large and diverse sample and explored the association between perceived cultural humility of the counselor and racial microaggressions. Racial/ethnic minority participants (N = 2,212) answered questions about the frequency and impact of racial microaggressions in counseling and the characteristics of their counselor. The majority of clients (81%) reported experiencing at least 1 racial microaggression in counseling. Participants most commonly reported racial microaggressions involving denial or lack of awareness of stereotypes and bias and avoidance of discussing cultural issues. There were few differences in racial microaggression frequency or impact based on client race/ethnicity and counselor race/ethnicity. Racially matched clients viewed racial microaggressions as more impactful than did clients who were not racially matched. Client-perceived cultural humility of the counselor was associated with fewer microaggressions experienced in counseling. We conclude by discussing limitations, areas for future research, and implications for counseling. (c) 2016 APA, all rights reserved).

  7. Genetic Counseling for Breast Cancer Susceptibility in African American Women

    National Research Council Canada - National Science Library

    Hughes, Chanita

    2004-01-01

    .... 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...

  8. [Issues on business of genetic testing in near future].

    Science.gov (United States)

    Takada, Fumio

    2009-06-01

    Since 1990's, a business condition that company sells genetic testing services directly to consumers without through medical facility, so called "direct-to-consumers (DTC) genetic testing", has risen. They provide genetic testing for obesity, disease susceptibility or paternity, etc. There are serious problems in this kind of business. Most of the providers do not make sales with face-to-face selling, and do through internet instead. They do not provide genetic counseling by certified genetic counselor or clinical geneticist. Most DTC genetic testing services for disease susceptibility or predispositions including obesity, lack scientific validity, clinical validity and clinical utility. And also including paternity genetic testing, they all have risks of ethical legal and social issues (ELSI) in genetic discrimination and/or eugenics. The specific problem in Japan is that the healthcare section of the government still has not paid attention and not taken seriously the requirement to deploy safety net.

  9. Using a social marketing framework to evaluate recruitment of a prospective study of genetic counseling and testing for the deaf community

    Science.gov (United States)

    2013-01-01

    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

  10. A simplified and accurate detection of the genetically modified wheat MON71800 with one calibrator plasmid.

    Science.gov (United States)

    Kim, Jae-Hwan; Park, Saet-Byul; Roh, Hyo-Jeong; Park, Sunghoon; Shin, Min-Ki; Moon, Gui Im; Hong, Jin-Hwan; Kim, Hae-Yeong

    2015-06-01

    With the increasing number of genetically modified (GM) events, unauthorized GMO releases into the food market have increased dramatically, and many countries have developed detection tools for them. This study described the qualitative and quantitative detection methods of unauthorized the GM wheat MON71800 with a reference plasmid (pGEM-M71800). The wheat acetyl-CoA carboxylase (acc) gene was used as the endogenous gene. The plasmid pGEM-M71800, which contains both the acc gene and the event-specific target MON71800, was constructed as a positive control for the qualitative and quantitative analyses. The limit of detection in the qualitative PCR assay was approximately 10 copies. In the quantitative PCR assay, the standard deviation and relative standard deviation repeatability values ranged from 0.06 to 0.25 and from 0.23% to 1.12%, respectively. This study supplies a powerful and very simple but accurate detection strategy for unauthorized GM wheat MON71800 that utilizes a single calibrator plasmid. Copyright © 2014 Elsevier Ltd. All rights reserved.

  11. The Cultural Obstacles of Counseling Licensure in Hong Kong

    Science.gov (United States)

    Lam, Gigi; Yeung, Marine

    2017-01-01

    A comprehensive package of counseling credentialism comprises certification, registration, and licensing. Counseling in Hong Kong adheres to certification for which diverse counseling master's programs exist. In addition, counselors can register as members of professional counseling organizations such as the Hong Kong Professional Counseling…

  12. Genetic Counseling for Breast Cancer Susceptibility in African American Women

    National Research Council Canada - National Science Library

    Hughes, Chanita

    2005-01-01

    .... 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...

  13. Psychosocial aspects of hereditary cancer (PAHC) questionnaire: development and testing of a screening questionnaire for use in clinical cancer genetics.

    Science.gov (United States)

    Eijzenga, W; Bleiker, E M A; Hahn, D E E; Kluijt, I; Sidharta, G N; Gundy, C; Aaronson, N K

    2014-08-01

    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.

  14. Online Counseling: Prioritizing Psychoeducation, Self-Help, and Mutual Help for Counseling Psychology Research and Practice

    Science.gov (United States)

    Chang, Tai

    2005-01-01

    This reaction article extends the research and practice recommendations for online counseling from the Major Contribution to the November 2005 issue of "The Counseling Psychologist" by prioritizing research and practice in online psychoeducation, self-help, and mutual help. Research suggests that tens of millions of Americans use the Internet for…

  15. Ethics in reproductive genetics.

    Science.gov (United States)

    Fletcher, J C; Evans, M I

    1992-12-01

    Ethics in reproductive genetics comprise descriptive ethics and normative ethics. Ethical problems before prenatal diagnosis involve genetic counseling and informed consent for the choice patients must make. Prenatal diagnosis using amniocentesis is controversial. An international survey of geneticists showed that 25% would do prenatal diagnosis for sex selection, and 17% would refer the couple elsewhere. Hungary (60%), India (37%), the US (34%), Canada (30%), Greece (29%), and Sweden (28%) would do prenatal diagnosis. The statistical incidence of positive findings after prenatal diagnosis does not exceed 4% of all cases when most couples choose abortion. Respect for parental choice and for nondirective counseling was supported in responses to 3 cases in the international survey that also had disclosure dilemmas included with abortion choices. 84% of respondents would be nondirective for XYY and 88% for XO. In India, Hungary, Turkey, and Norway, 46%, 40%, 40%, and 33%, respectively, would advise aborting an XO (Turner) fetus. A survey of 737 genetics and obstetricians and ethicists and clergy showed acceptability of abortion in singleton pregnancies and in twins associated strongly with the trimester of pregnancy, indication for selective termination, and fetal number. Prior group review of risks and benefits of experimental fetal therapy, case selection for experimental fetal therapy, the optimal informed-consent process for fetal therapy, twin pregnancies, refusal of proven fetal therapy, the lack of federal support for research in fetal diagnosis (preimplantation embryo diagnosis) and therapy, and sources of a moral obligation are also addressed. The Belmont Report on the ethics of biomedical research in the US proposed ethical principles to guide research with human subjects including the fetus: respect for parsons, beneficence, and justice.

  16. Self-Transcendence: Integrating Ends and Means in Value Counseling.

    Science.gov (United States)

    Conn, Walter E.

    1994-01-01

    Compares pastoral and secular counseling, suggesting that pastoral counseling is distinctively specified by limit experiences. Relates Lonergan's view of self-transcendence to Egan's three-stage model and various approaches summarized by Corey. Concludes that, although distinctive in some ways, pastoral counseling and secular counseling are…

  17. 78 FR 68343 - Homeownership Counseling Organizations Lists Interpretive Rule

    Science.gov (United States)

    2013-11-14

    ... counseling and online counseling services, which are particularly useful to borrowers in remote areas or... BUREAU OF CONSUMER FINANCIAL PROTECTION 12 CFR Part 1024 RIN 3170-AA37 Homeownership Counseling... the High-Cost Mortgage and Homeownership Counseling Amendments to the Truth in Lending Act (Regulation...

  18. Restating a Client-Centered Approach to Career Counseling.

    Science.gov (United States)

    Miller, Mark J.

    1988-01-01

    Asserts career counseling too often is associated with objective test scores and rational decision making. Reiterates the importance of considering the client's developing self-concept in career counseling. Provides sample client centered career counseling session. (Author/ABL)

  19. Supervision on Transference and Counter-Transference Issues for Undergraduate Students’ Counseling Practice at Counseling Department

    Directory of Open Access Journals (Sweden)

    Amirah Diniaty

    2014-07-01

    Full Text Available Undergraduate students should take 4 credits for counseling practice subject in Counseling Department of State Islamic University of Riau. The subject is taken by seventh semester students who conduct counseling practice at senior high school for 3 months. Based on prelimenary study, majority of students acknowledged that they felt nervous to follow this programme. Thus, the problem of transference and counter transference issue for undergraduate students counseling practice must be answered by their supervisions. The result showed that a total of 93% of respondents had positive transference, while 7% of them had negative one. It means that majority of respondents felt positive transference, while internship students faced identification counter transference. It was proved that internship students did not need to have negative thinking of being rejected by the schools. The finding also showed that 97.3% of interenship students faced identification counter transference, while 2,7%  of them experienced for unidentification of transfenece. It means that there were a few of them should be supervised to have good counter transference. Supervision format that done by supervisor (university teacher and tutor (high school teacher was by conducting monthly meeting and by following up counseling result and writing report. It is recommended that a professional discussion is conducted to discuss problems faced by internship students.

  20. Counselling users of hearing technology: a comprehensive literature review.

    Science.gov (United States)

    Meibos, Alex; Muñoz, Karen; Schultz, Jared; Price, Tanner; Whicker, John J; Caballero, Ana; Graham, Laurel

    2017-12-01

    The purpose of this review is to determine the scope of peer-reviewed empirical research related to counselling in audiology with patients using hearing technology and to identify limitations and gaps to guide recommendations for future research. A rapid evidence assessment was used to identify relevant articles for the review. Eighteen articles met the inclusion criteria. Three themes were identified: (1) audiologist counselling perspectives, (2) counselling communication trends in practice and (3) audiologist experiences with professional training and reported patient outcomes. Findings revealed audiologists are more confident providing information than counselling that addresses adjustment aspects, and other communication gaps have been observed. There is limited research related to counselling in audiology. Audiologists continue to report a need for more training in counselling in their graduate programmes. Additional research is needed to determine effective ways to implement counselling in practice and to improve graduate student supervision for the development of counselling competencies and confidence in using skills in practice.