Talking Points: Women ’s Information Needs for Informed Decision-Making About Noninvasive Prenatal Testing for Down Syndrome
AbstractAdequate knowledge is a vital component of informed decision-making; however, we do not know what information women value when making decisions about noninvasive prenatal testing (NIPT). The current study aimed to identify women ’s information needs for decision-making about NIPT as a first-tier, non-contingent test with out-of-pocket expense and, in turn, inform best practice by specifying the information that should be prioritized when providing pre-test counseling to women in a time-limited scenario or space-limited de cision support tool. We asked women (N = 242) in Australia to indicate the importance of...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Issue Highlights
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Interpretations of the Term “Actionable” when Discussing Genetic Test Results: What you Mean Is Not What I Heard
AbstractIn 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.” After being provided with a definition of the term, 21 out of 60...
Source: Journal of Genetic Counseling - September 7, 2018 Category: Genetics & Stem Cells Source Type: research
User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia
AbstractThe 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. All but one couple had previo...
Source: Journal of Genetic Counseling - September 5, 2018 Category: Genetics & Stem Cells Source Type: research
Response to “A Psychological Perspective on Factors Predicting Prophylactic Salpingo-Oophorectomy in a Sample of Italian Women from the General Population. Results from a Hypothetical Study in the Context of BRCA Mutations”
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - September 1, 2018 Category: Genetics & Stem Cells Source Type: research
Letter to the Editor: Response to Cox (2018)
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - September 1, 2018 Category: Genetics & Stem Cells Source Type: research
The Feelings About genomiC Testing Results (FACToR) Questionnaire: Development and Preliminary Validation
AbstractThe 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 S...
Source: Journal of Genetic Counseling - September 1, 2018 Category: Genetics & Stem Cells Source Type: research
Relation Between Religious Perspectives and Views on Sickle Cell Disease Research and Associated Public Health Interventions in Ghana
AbstractSickle 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 suprem...
Source: Journal of Genetic Counseling - September 1, 2018 Category: Genetics & Stem Cells Source Type: research
Genetic Counselors ’ and Genetic Counseling Students’ Implicit and Explicit Attitudes toward Homosexuality
AbstractMembers 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 Associatio n Test (SIAT). ...
Source: Journal of Genetic Counseling - August 30, 2018 Category: Genetics & Stem Cells Source Type: research
Issue Highlights
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - August 30, 2018 Category: Genetics & Stem Cells Source Type: 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
In conclusion, significant practice variation exists among cardiac genetic counselors regarding predictive genetic testing for children at risk of an inherited cardiomyopathy. These variations call for more research in the area to assist with the development of evidence-based guidelines. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - August 21, 2018 Category: Genetics & Stem Cells Source Type: research
Alone in a Crowd? Parents of Children with Rare Diseases ’ Experiences of Navigating the Healthcare System
This study illustrates the common challenges experienced by parents of children with rare diseases as they navigate the healthcare system. Parents’ role as “expert caregiver” was rarely acknowledged by healthcare providers, pointing to the need to foster more egali tarian relationships. As well, parents were burdened with the additional role of care coordinator, a role that could be filled formally by a healthcare provider. Lastly, peer support was a key resource in terms of information and emotional support for parents who often begin their journey feeling is olated and alone. Policies and programs are needed that v...
Source: Journal of Genetic Counseling - August 21, 2018 Category: Genetics & Stem Cells Source Type: research
Undergraduate Student Perceptions and Awareness of Genetic Counseling
Discussion elaborates upon specific factors related to student awareness and interest in genetic cou nseling and potential ways to tailor recruitment strategies for maximum benefit to the field. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - August 19, 2018 Category: Genetics & Stem Cells Source Type: research
All Along the Watchtower: a Case of Long QT Syndrome Misdiagnosis Secondary to Genetic Testing Misinterpretation
This report details a child previously diagnosed with long QT syndrome type 4 by chromosomal microarray who was then subsequently managed for this disease by cardiac providers with insufficient expertise to critically review and question the genetic testing results. The patient was eventually referred to a pediatric electrophysiology team as part of a larger multidisciplinary cardiovascular genetics program, composed of specialist genetic counselors, cardiologists, and clinical geneticists. Advanced review and clinical evaluation raised concern about the initial genetic testing result and diagnosis. Complementary testing w...
Source: Journal of Genetic Counseling - August 16, 2018 Category: Genetics & Stem Cells Source Type: research
Lay Perspectives on Receiving Different Types of Genomic Secondary Findings: a Qualitative Vignette Study
AbstractGenome-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—c ardiovascular disease (familial hypercholesterolemia, long QT syndrome) or cancer (Lynch syndrome, Li–Fraumeni syndrome). Par...
Source: Journal of Genetic Counseling - August 15, 2018 Category: Genetics & Stem Cells Source Type: research
