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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...
August 16, 2018: Journal of Genetic Counseling
M Vornanen, K Aktan-Collan, N Hallowell, H Konttinen, A Haukkala
Genome-wide sequencing may generate secondary findings (SFs). It is recommended that validated, clinically actionable SFs are reported back to patients/research participants. To explore publics' perspectives on the best ways to do this, we performed a vignette study among Finnish adults. Our aim was to explore how lay people react to different types of hypothetical genomic SFs. Participants received a hypothetical letter revealing a SF predisposing to a severe but actionable disease-cardiovascular disease (familial hypercholesterolemia, long QT syndrome) or cancer (Lynch syndrome, Li-Fraumeni syndrome)...
August 15, 2018: Journal of Genetic Counseling
Elisabeth Wurtmann, Julia Steinberger, Pat McCarthy Veach, Mindi Khan, Heather Zierhut
Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA; yet, factors influencing family notification about risk for FH in the US pediatric setting have not been well elucidated. Most previous research on these factors has occurred in adult patient populations in European countries with organized cascade screening programs; therefore, we sought to characterize parent experiences with cascade screening in the US pediatric setting. A quantitative survey measuring family notification of FH risk information was administered to 38 parents of children with FH identified within a pediatric cardiology clinic...
August 14, 2018: Journal of Genetic Counseling
Patricia H Birch, S Adam, R R Coe, A V Port, M Vortel, J M Friedman, F Légaré
Shared decision-making (SDM) is a collaborative approach in which clinicians educate, support, and guide patients as they make informed, value-congruent decisions. SDM improves patients' health-related outcomes through increasing knowledge, reducing decisional conflict, and enhancing experience of care. We measured SDM in genetic counselling appointments with 27 pregnant women who were at increased risk to have a baby with a genetic abnormality. The eight experienced genetic counsellors who participated had no specific SDM training and were unaware that SDM was being assessed...
August 14, 2018: Journal of Genetic Counseling
Jessica R Williams, Vivian M Yeh, Marino A Bruce, Carolyn Szetela, Flora Ukoli, Consuelo H Wilkins, Sunil Kripalani
A clear awareness of a patient's knowledge, values, and perspectives is an important component of effective genetic counseling. Advances in precision medicine, however, have outpaced our understanding of patient perceptions of this new approach. Patient views may differ across the three domains of precision medicine (genetics, behavioral, and environmental determinants of health), ethnic/racial groups, and health literacy levels. This study describes and compares group differences in familiarity, perceptions, and preferences for precision medicine in a diverse sample...
August 13, 2018: Journal of Genetic Counseling
Brianna Volz, Kathleen D Valverde, Steven J Robbins
The complex nature of self-disclosure poses challenges for genetic counselors in clinical practice. We examined the impact of genetic counselor self-disclosure on observer perceptions of the counselor. In an online analog study, 123 participants watched a 3-minute video of a simulated genetic counseling session. For half the participants, the video showed the counselor disclosing that she had a family medical history similar to the patient (direct personal disclosure). For half the participants, the counselor revealed her experience with other patients (direct professional disclosure)...
August 8, 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.
July 23, 2018: Journal of Genetic Counseling
Shelin Adam, Patricia H Birch, Rachel R Coe, Nick Bansback, Adrian L Jones, Mary B Connolly, Michelle K Demos, Eric B Toyota, Matthew J Farrer, Jan M Friedman
Clinical use of genome-wide sequencing (GWS) requires pre-test genetic counseling, but the availability of genetic counseling is limited. We developed an interactive online decision-support tool, DECIDE, to make genetic counseling, patient education, and decision support more readily available. We performed a non-inferiority trial comparing DECIDE to standard genetic counseling to assess the clinical value of DECIDE for pre-GWS counseling. One hundred and six parents considering GWS for their children with epilepsy were randomized to conventional genetic counseling or DECIDE...
July 23, 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)...
July 7, 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...
July 4, 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...
July 3, 2018: Journal of Genetic Counseling
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