Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers
AbstractWomen with a germline pathogenic variant in the BReast CAncer susceptibility genes (BRCA1 orBRCA2) 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. Of the 70 participant female ...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
What to Do with a Second Chance in Life? Long-Term Experiences of Non-carriers of Huntington ’s Disease
In this study, 20 interviews were conducted to explore the long-term (> 5 years) experiences after receiving predictive test results as a non-carrier of HD. The results showed a broad variety of both positive and negative reactions. The most prominent positive reaction reported was feelings of relief and gratitude, of not carrying the HD mutation for themselves and for their children. Also, the non-carrier status promoted in some individuals’ significant life changes such as a wishing to have (more) children, pursuing a career or breaking up from an unhappy relationship. However, negative reactions on their psycho...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Patients ’ Views of Treatment-Focused Genetic Testing (TFGT): Some Lessons for the Mainstreaming of BRCA1 and BRCA2 Testing
AbstractThis paper explores patients ’ views and experiences of undergoing treatment-focusedBRCA1 andBRCA2 genetic testing (TFGT), either offered following triaging to clinical genetics (breast cancer) or as part of a mainstreamed care pathway in oncology (ovarian cancer). Drawing on 26 in-depth interviews with patients with breast or ovarian cancer who had undergone TFGT, this retrospective study examines patients ’ views of genetic testing at this point in their care pathway, focusing on issues, such as initial response to the offer of testing, motivations for undergoing testing, and views on care pathways. Patients ...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Experiences of Women Who Have Had Carrier Testing for Duchenne Muscular Dystrophy and Becker Muscular Dystrophy During Adolescence
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. Data were coded using thematic analysis. For most (8/12) participants, discovering their carrier status during adolescence appeared to have helped alleviate uncertainty. The majority (9/12) of participants felt that they had made an autonomous decision and most (10/12) seemed to have adjusted well to their test result. Reproduct...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Finding a Balance: Reconciling the Needs of the Institution, Patient, and Genetic Counselor for Optimal Resource Utilization
AbstractThe current practice of cancer genetic counseling is undergoing widespread change and scrutiny. While there are clinical resources for genetic counselors (GCs) regarding the delivery of cancer genetic services, there is limited literature regarding effective management of a genetic counseling clinical program. We have developed administrative tools to manage a large team of GCs at a single academic medical center over a period of increasing demand for genetics services, with the initial aim of decreasing wait time for urgent genetic counseling visits. Here, we describe the three main elements of the clinical operat...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Genetic Counselors ’ Perspectives About Cell-Free DNA: Experiences, Challenges, and Expectations for Obstetricians
AbstractThe 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. Participants supported the use of cfDNA screening for the common autosomal aneuploidies, but noted...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
The Relationship Between the Supervisory Working Alliance and Student Self-Efficacy in Genetic Counseling Training
AbstractThe purpose of this study was to determine if a genetic counseling student ’s perception of the supervisory working alliance (SWA) is related to their self-efficacy on select clinical practice-based competencies (PBCs), evaluating the second tenet of the Reciprocal Engagement Model of Supervision (REM-S) from a student perspective. Second year genetic counseling students (N = 168) completed a survey containing demographic and clinical rotation experience questions, the Supervisory Working Alliance Inventory-Trainee Form (SWAI-T), and the Genetic Counseling Self-Efficacy Scale (GCSES). Overall, the SWAI-T was ...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Adrenal Insufficiency in Young Children: a Mixed Methods Study of Parents ’ Experiences
AbstractResearch 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 th...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Disability Experiences and Perspectives Regarding Reproductive Decisions, Parenting, and the Utility of Genetic Services: a Qualitative Study
AbstractGenetic counselors adopt seemingly contradictory roles: advocating for individuals with genetic conditions while offering prenatal diagnosis and the option of selective termination to prevent the birth of a child with a disability. This duality contributes to the tension between the disability and clinical genetics communities. Varying opinions exist amongst the disability community: some value genetic services while others are opposed. However, there is limited research exploring the opinions of individuals with a disability regarding issues related to reproduction and genetic services in the context of personal e...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Genetic Counselors ’ Experience with and Opinions on the Management of Newborn Screening Incidental Carrier Findings
Discussion surrounding disclosure of these incidental carrier findings remains controversial. The purpose of this study was to assess genetic counselors ’ attitudes about disclosure of carrier status results generated by NBS and to gather data on their experiences with incidental carrier findings. An electronic survey was distributed to genetic counselors of all specialties via the NSGC listserv, and a total of 235 survey responses were analyzed. Quantitative data were analyzed using IBM SPSS v24, and qualitative data were manually analyzed for thematic analysis. Results show that the counselor participants were overall ...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
The Influence of Adolescence on Parents ’ Perspectives of Testing and Discussing Inherited Cancer Predisposition
In this study, semi-structured interviews were conducted with 46 parents of children at risk for LFS to capture those perspectives. Analysis utilized summary descriptive statistics and inductive qualitative content coding. Most parents (33/46; 72%) expressed beliefs that adolescence influences the importance of LFS testing and/or discussions about genetic risk. Twenty-six parents related this influence to cognitive, physical, and social changes occurring during adolescence. Aspects of adolescence perceived as promoting LFS testing/discussion included developmental appropriateness, risks of cancer in adolescence, need for m...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Creation and Implementation of an Environmental Scan to Assess Cancer Genetics Services at Three Oncology Care Settings
AbstractAn environmental scan (ES) is an efficient mixed-methods approach to collect and interpret relevant data for strategic planning and project design. To date, the ES has not been used nor evaluated in the clinical cancer genetics setting. We created and implemented an ES to inform the design of a quality improvement (QI) project to increase the rates of adherence to national guidelines for cancer genetic counseling and genetic testing at three unique oncology care settings (OCS). The ES collected qualitative and quantitative data from reviews of internal processes, past QI efforts, the literature, and each OCS. The E...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease
This study presents the opinions of a unique and extremely well-informed cohort on issues that need to be taken into careful consideration by genetic counselors and other me dical professionals who are developing genetic testing protocols, making decisions about the availability of genetic tests, and making decisions about whether and how to return incidental findings. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals
AbstractPrior to 2013, genetic testing for Ashkenazi Jewish (AJ) individuals primarily consisted of the three-siteBRCA1/BRCA2 AJ panel, full sequencing ofBRCA1/2, 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. We found that 29% of affected and 37% of unaffected individuals carried a pathogenic mutation (3...
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
Impact of Appointment Waiting Time on Attendance Rates at a Clinical Cancer Genetics Service
In conclusion, appointment waiting time is a significant predictor for pati ent attendance. Strategies to ensure patients receive an appointment within the necessary timeframe at the desired setting are important to ensure that individuals at increased cancer risk attend their appointments in order to manage their cancer risks effectively. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - December 1, 2018 Category: Genetics & Stem Cells Source Type: research
