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Journal of Genetic Counseling

Trishna Subas, Rebecca Luiten, Andrea Hanson-Kahn, Matthew Wheeler, Colleen Caleshu
Individuals with hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS) are advised to avoid certain forms of exercise to reduce their risk of sudden death. Cardiovascular genetic counselors facilitate both adaptation to, and decision-making about, these exercise recommendations. This study describes decision-making and experiences of active adults who exercise above physicians' recommendations. Purposive sampling was used to select adults with HCM and LQTS who self-identified as exercising above recommendations...
September 15, 2018: Journal of Genetic Counseling
Michele C Gornick, Kerry A Ryan, Aaron M Scherer, J Scott Roberts, Raymond G De Vries, Wendy R Uhlmann
In genomic medicine, the familiarity and inexactness of the term "actionable" can lead to multiple interpretations and mistaken beliefs about realistic treatment options. As part of a larger study focusing on public attitudes toward policies for the return of secondary genomic results, we looked at how members of the lay public interpret the term "medically actionable" in the context of genetic testing. We also surveyed a convenience sample of oncologists as part of a separate study and asked them to define the term "medically actionable...
September 7, 2018: Journal of Genetic Counseling
Sarah Josephi-Taylor, Kristine Barlow-Stewart, Arthavan Selvanathan, Tony Roscioli, Alan Bittles, Bettina Meiser, Lisa Worgan, Sulekha Rajagopalan, Alison Colley, Edwin P Kirk
The study aimed to explore with consanguineous couples in Australia the acceptability and perceived utility of whole exome reproductive carrier screening for autosomal recessive and X-linked recessive conditions. Semi-structured interviews with 21 consanguineous couples were conducted prior to the offer of screening. Interviews were coded, and thematic analysis was informed by an inductive approach. Three major themes were identified: experiences and attitudes of Australian consanguineous couples, childhood genetic conditions and beliefs, and the perceived utility of genomic screening...
September 5, 2018: Journal of Genetic Counseling
Meng Li, Caroline S Bennette, Laura M Amendola, M Ragan Hart, Patrick Heagerty, Bryan Comstock, Peter Tarczy-Hornoch, Stephanie M Fullerton, Dean A Regier, Wylie Burke, Susan B Trinidad, Gail P Jarvik, David L Veenstra, Donald L Patrick
The purpose of this study was to develop a brief instrument, the Feelings About genomiC Testing Results (FACToR), to measure the psychosocial impact of returning genomic findings to patients in research and clinical practice. To create the FACToR, we modified and augmented the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire based on findings from a literature review, two focus groups (N = 12), and cognitive interviews (N = 6). We evaluated data from 122 participants referred for evaluation for inherited colorectal cancer or polyposis from the New EXome Technology in (NEXT) Medicine Study, an RCT of exome sequencing versus usual care...
September 1, 2018: Journal of Genetic Counseling
Jemima A Dennis-Antwi, Kwaku Ohene-Frempong, Kofi A Anie, Helen Dzikunu, Veronica A Agyare, Richard Okyere Boadu, Joseph Sarfo Antwi, Mabel K Asafo, Oboshie Anim-Boamah, Augustine K Asubonteng, Solomon Agyei, Ambroise Wonkam, Marsha J Treadwell
Sickle cell disease (SCD) is highly prevalent in Africa with a significant public health burden for under-resourced countries. We employed qualitative research methods to understand the ethical, legal, and social implications of conducting genomic research in SCD under the Human Heredity and Health in Africa (H3Africa) initiative. The present study focused on religious and cultural aspects of SCD with the view to identifying beliefs and attitudes relevant to public health interventions in Ghana. Thematic analyses from individual and group interviews revealed six key areas of importance, namely, reliance on a supreme being; religion as a disruptive influence on health behaviors; role of religious leaders in information sharing and decision-making; social, religious, and customary norms; health and religious/supernatural beliefs; and need for social education and support through church and community...
September 1, 2018: Journal of Genetic Counseling
Megan L Nathan, Kelly E Ormond, Christopher M Dial, Amber Gamma, Mitchell R Lunn
Members of the lesbian, gay, and bisexual (LGB) community experience significant health disparities. Widespread preferences for heterosexual over homosexual people among healthcare providers are believed to contribute to this inequity, making recognition (and ultimately reduction) of healthcare providers' sexual prejudices of import. The present study sought to characterize North American genetic counselors' and genetic counseling students' implicit and explicit attitudes toward homosexuality. During January 2017, 575 participants completed a Web-based survey and Sexuality Implicit Association Test (SIAT)...
August 30, 2018: Journal of Genetic Counseling
S Christian, M Somerville, C Huculak, J Atallah
Cascade predictive genetic testing is available for many families as a means to identify individuals at risk of long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), hypertrophic cardiomyopathy (HCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). The general issue of offering predictive genetic testing to minors has been an area of ethical debate among genetic counselors and other healthcare professionals for many years. An online questionnaire was circulated to four international genetic counseling associations to assess the views of cardiac genetic counselors regarding when to offer predictive genetic testing to children at risk of LQTS, CPVT, HCM, and ARVC...
August 21, 2018: Journal of Genetic Counseling
Jennifer Baumbusch, Samara Mayer, Isabel Sloan-Yip
A disorder is considered a rare disease if it affects 1 in 2000, hence, while independently unique, collectively, these conditions are quite common. Many rare diseases are diagnosed during childhood, and therefore parents become primary caregivers in addition to their parental role. Despite the prevalence of rare diseases among children, there has been little research focused on parents' experiences of navigating the healthcare system, a gap we begin to address in this study. Guided by an interpretive description methodology, participants were recruited through online listservs and posting flyers at a pediatric hospital in Western Canada...
August 21, 2018: Journal of Genetic Counseling
Amanda Gerard, Sarah Noblin, S Shahrukh Hashmi, Andrew J Bean, Katie Bergstrom, Christina B Hurst, William Mattox, Blair Stevens
Genetic counseling is a rapidly expanding field, and the supply of certified genetic counselors is currently unable to keep up with job demand. Research is fairly limited regarding the awareness and perceptions that prospective genetic counseling students have on the field and what factors most influence their interest. The current study includes data collected from 1389 undergraduate students in the sciences at 23 universities across the United States who were surveyed regarding information related to their awareness, perceptions, knowledge, and interest in genetic counseling...
August 19, 2018: Journal of Genetic Counseling
Benjamin M Helm, Mark D Ayers, Adam C Kean
Clinical genetics services continue to expand into diverse medical specialties. An ever-increasing number of non-genetics providers are independently ordering genetic tests, interpreting results, and at times, making diagnoses leading to patient care recommendations. Non-genetics healthcare providers can help increase patient access to these services, but a potential pitfall occurs when these providers either do not have adequate expertise with genetic variant interpretation or do not have access to multi-disciplinary teams including genetic counselors or clinical geneticists for advanced review...
December 2018: Journal of Genetic Counseling
Allison Werner-Lin, Shana L Merrill, Amanda C Brandt, Rachel E Barnett, Ellen T Matloff
The original article [1] was initially published with the following list of authors: Allison Werner-Lin, Shana L. Merrill, and Amanda C. Brandt. This author list is now corrected as follows: Allison Werner-Lin, Shana L. Merrill, Amanda C. Brandt, Rachel E. Barnett, & Ellen T. Matloff.
December 2018: Journal of Genetic Counseling
Amy Simpson, Richard Ross, John Porter, Simon Dixon, Martin J Whitaker, Amy Hunter
Research into adrenal insufficiency (AI) and congenital adrenal hyperplasia (CAH) in children has focused largely on clinical consequences for patients; and until recently, the wider experience of the condition from the perspective of other family members has been neglected. In a mixed methods study, we captured the experiences of parents of young children affected by AI/CAH, including their views on the psychosocial impact of living with and managing the condition. Semi-structured interviews were carried out in the UK and an online survey was developed, translated and disseminated through support groups (UK and the Netherlands) and outpatient endocrinology clinics (Germany)...
December 2018: Journal of Genetic Counseling
Harry G Fraser, Rebecca Z Redmond, Diana F Scotcher
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive degenerative muscular conditions. Carrier testing is available to at-risk females. Though carrier testing is often offered to adolescent females, it raises ethical issues related to autonomy. This study aimed to address the impact of DMD/BMD carrier testing during adolescence, to elucidate what motivates adolescents to seek testing, and to assess the carrier testing experience. Retrospective semi-structured telephone interviews were conducted with 12 women out of 28 initially contacted...
December 2018: Journal of Genetic Counseling
Emily A Rauscher, Marleah Dean, Gemme M Campbell-Salome
Men with a germline pathogenic BRCA1 or BRCA2 variant have increased risks for developing breast, pancreatic, prostate, and melanoma cancers, but little is known about how they understand and manage their cancer risks. This study examines how men with BRCA-related cancer risks manage uncertainty and information about their risks. Twenty-five men who were either a BRCA carrier or have a BRCA-positive first-degree family member that put the participant at 50% chance of also being a BRCA carrier were interviewed for this study...
December 2018: Journal of Genetic Counseling
K M Stuttgen, J M Bollinger, R L Dvoskin, A McCague, B Shpritz, J Brandt, Debra J H Mathews
This qualitative study gathered opinions about genetic testing from people who received presymptomatic testing for Huntington's disease (HD) 20-30 years ago and have lived with the implications of that testing for decades. During the last section of a semi-structured interview, participants were asked open-ended questions about their opinions on the importance of autonomy in the decision to be tested for HD, whether a formal HD testing protocol is necessary, whether physician ordering for HD is acceptable without a formal protocol, whether online direct-to-consumer (DTC) genetic testing for HD is acceptable, and whether incidental/secondary findings should be returned in the context of whole exome/genome sequencing...
December 2018: Journal of Genetic Counseling
Patricia K Agatisa, Mary Beth Mercer, Marissa Coleridge, Ruth M Farrell
The expansion of cell-free fetal DNA (cfDNA) screening for a larger and diverse set of genetic variants, in addition for use among the low-risk obstetric population, presents important clinical challenges for all healthcare providers involved in the delivery of prenatal care. It is unclear how to leverage the different members of the healthcare team to respond to these challenges. We conducted interviews with 25 prenatal genetic counselors to understand their experience with the continued expansion of cfDNA screening...
December 2018: Journal of Genetic Counseling
Emily Parkhurst, Elise Calonico, Sridevi Abboy
Medullary thyroid carcinoma (MTC) is often due to the hereditary condition multiple endocrine neoplasia type 2 (MEN2) and it is standard of care to offer genetic testing to all diagnosed patients. This study used the Kaiser Permanente integrated medical record system to identify patients at risk for MEN2, assess adherence to clinical practice guidelines, and offer genetic counseling and testing. A query of the electronic medical records system identified patients with MTC. All patients with MTC who had not had RET gene testing, as well as patients who had positive RET gene testing, but had not yet had genetic counseling, were contacted and offered a genetics consultation...
December 2018: Journal of Genetic Counseling
Laila Andoni, Wendy L Hobson, John C Carey, Karin M Dent
Genetic counselors and clinical geneticists are often in the position of delivering difficult news (DDN) to patients and families. Many studies show that healthcare providers require major improvement in the skills needed in DDN in a manner that is satisfactory to their patients. The purpose of this study was to assess the amount and methodology of DDN training received by genetic counselors and medical genetics residents in their training programs, such as observations of DDN or attending didactic lectures...
December 2018: Journal of Genetic Counseling
Sarah M Nielsen, Lenika M De Simone, Olufunmilayo I Olopade
Prior to 2013, genetic testing for Ashkenazi Jewish (AJ) individuals primarily consisted of the three-site BRCA1/BRCA2 AJ panel, full sequencing of BRCA1/2, or the Lynch syndrome mismatch repair genes. Multigene panel testing became more widely available in 2013, but limited data are available regarding the impact of multigene panel testing for AJ individuals. Here, we report the frequency of cancer susceptibility gene mutations in a cohort of 427 AJ individuals seen in the Cancer Risk Clinic at The University of Chicago...
December 2018: Journal of Genetic Counseling
Pnina Mor, Sarah Brennenstuhl, Kelly A Metcalfe
Women with a germline pathogenic variant in the BReast CAncer susceptibility genes (BRCA1 or BRCA2) have an increased risk of early-onset breast and ovarian cancer. In addition to weighing cancer screening and risk-reduction options, healthy BRCA mutation carriers of childbearing age may choose to preclude passing the mutation to the next generation. In the current study, we report on preimplantation genetic diagnosis (PGD) practices in BRCA-positive Israeli women who were offered PGD at no cost. Methods: we measured PGD uptake, decision satisfaction or regret, and predictors of uptake...
December 2018: Journal of Genetic Counseling
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