Journal of Genetic Counseling OnlineFirst articles

15.09.2018 | Original Research

Evolving Decisions: Perspectives of Active and Athletic Individuals with Inherited Heart Disease Who Exercise Against Recommendations

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 …

verfasst von:: Trishna Subas, Rebecca Luiten, Andrea Hanson-Kahn, Matthew Wheeler, Colleen Caleshu

07.09.2018 | Original Research

Interpretations of the Term “Actionable” when Discussing Genetic Test Results: What you Mean Is Not What I Heard

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 …

verfasst von:: Michele C. Gornick, Kerry A. Ryan, Aaron M. Scherer, J. Scott Roberts, Raymond G. De Vries, Wendy R. Uhlmann

05.09.2018 | Original Research

User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia

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 …

verfasst von:: Sarah Josephi-Taylor, Kristine Barlow-Stewart, Arthavan Selvanathan, Tony Roscioli, Alan Bittles, Bettina Meiser, Lisa Worgan, Sulekha Rajagopalan, Alison Colley, Edwin P. Kirk

01.09.2018 | Original Research

Relation Between Religious Perspectives and Views on Sickle Cell Disease Research and Associated Public Health Interventions in Ghana

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 …

verfasst von:: 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

01.09.2018 | Original Research

The Feelings About genomiC Testing Results (FACToR) Questionnaire: Development and Preliminary Validation

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 …

verfasst von:: 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

30.08.2018 | Original Research

Genetic Counselors’ and Genetic Counseling Students’ Implicit and Explicit Attitudes toward Homosexuality

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 …

verfasst von:: Megan L. Nathan, Kelly E. Ormond, Christopher M. Dial, Amber Gamma, Mitchell R. Lunn

21.08.2018 | Original Research

Practice Variation among an International Group of Genetic Counselors on when to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy

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 …

verfasst von:: S. Christian, M. Somerville, C. Huculak, J. Atallah

21.08.2018 | Original Research

Alone in a Crowd? Parents of Children with Rare Diseases’ Experiences of Navigating the Healthcare System

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 …

verfasst von:: Jennifer Baumbusch, Samara Mayer, Isabel Sloan-Yip

19.08.2018 | Original Research

Undergraduate Student Perceptions and Awareness of Genetic Counseling

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 …

verfasst von:: Amanda Gerard, Sarah Noblin, S. Shahrukh Hashmi, Andrew J. Bean, Katie Bergstrom, Christina B. Hurst, William Mattox, Blair Stevens

15.08.2018 | Original Research

Lay Perspectives on Receiving Different Types of Genomic Secondary Findings: a Qualitative Vignette Study

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 …

verfasst von:: M. Vornanen, K. Aktan-Collan, N. Hallowell, H. Konttinen, A. Haukkala

14.08.2018 | Original Research

Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors

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 …

verfasst von:: Patricia H. Birch, S. Adam, R. R. Coe, A. V. Port, M. Vortel, J. M. Friedman, F. Légaré

14.08.2018 | Original Research

Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center

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 …

verfasst von:: Elisabeth Wurtmann, Julia Steinberger, Pat McCarthy Veach, Mindi Khan, Heather Zierhut

13.08.2018 | Original Research

Precision Medicine: Familiarity, Perceived Health Drivers, and Genetic Testing Considerations Across Health Literacy Levels in a Diverse Sample

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.

verfasst von:: Jessica R. Williams, Vivian M. Yeh, Marino A. Bruce, Carolyn Szetela, Flora Ukoli, Consuelo H. Wilkins, Sunil Kripalani

08.08.2018 | Original Research

Effects of Genetic Counselor Self-Disclosure: an Experimental Analog Study

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 …

verfasst von:: Brianna Volz, Kathleen D. Valverde, Steven J. Robbins

23.07.2018 | Original Research

Assessing an Interactive Online Tool to Support Parents’ Genomic Testing Decisions

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 …

verfasst von:: 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

Springer Medizin