Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center
AbstractFamilial 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 clin...
Source: Journal of Genetic Counseling - August 14, 2018 Category: Genetics & Stem Cells Source Type: research
Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors
AbstractShared 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 cou nsellors who participated had no specific SDM training and were unaware that SDM was being assessed. Audio transcripts of appointments ...
Source: Journal of Genetic Counseling - August 14, 2018 Category: Genetics & Stem Cells Source Type: research
Precision Medicine: Familiarity, Perceived Health Drivers, and Genetic Testing Considerations Across Health Literacy Levels in a Diverse Sample
This study describes and compares group differences in familiarity, perceptions, and preferences for precision medicine in a diverse sample. Between 2016 and 2017, 252 participants completed a 1 0–15-min survey in three primary care clinics in Florida and Tennessee. The final sample was 42.5% African American/Black, 25.8% Hispanic/Latino, 25.0% White, and 6.7% other ethnicity/race. Less than a quarter of participants reported being familiar with the term “precision medicine,” but were more familiar with basic genetic terms. Participants with higher health literacy reported greater familiarity with terms (p ≤ .0...
Source: Journal of Genetic Counseling - August 13, 2018 Category: Genetics & Stem Cells Source Type: research
Effects of Genetic Counselor Self-Disclosure: an Experimental Analog Study
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). Half the participants in each video condition read that the patient had discovered personal information about the counselor during a pre-...
Source: Journal of Genetic Counseling - August 8, 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 - July 7, 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 - July 4, 2018 Category: Genetics & Stem Cells Source Type: research
“I Am Uncertain About What My Uncertainty Even Is”: Men’s Uncertainty and Information Management of Their BRCA-Related 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. Using uncertainty management theory as a theoretical framework, this study demonstrates that men manage uncertainty by seeking information from female family members, websites, and healthcare providers, and are under-informed about their cancer risks. Further, in handling their information, men prefer information abo...
Source: Journal of Genetic Counseling - July 3, 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 - July 2, 2018 Category: Genetics & Stem Cells Source Type: research
Response to Costa, Lemos, and Paneque Letter to the Editor
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - July 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 - June 27, 2018 Category: Genetics & Stem Cells Source Type: research
Training Methods for Delivering Difficult News in Genetic Counseling and Genetics Residency Training Programs
AbstractGenetic 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. To our knowledge, there is no previous assessment or study of DDN training in genetic counselor and medical ...
Source: Journal of Genetic Counseling - June 27, 2018 Category: Genetics & Stem Cells Source Type: research
Utilization of Genetic Testing for RET Mutations in Patients with Medullary Thyroid Carcinoma: a Single-Center Experience
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 hadRET gene testing, as well as patients who had positiveRET gene testing, but had not yet had genetic counseling, were contacted and offered a genetics consultation. The query identified 142 patients with MTC. Fifty-six (40%) of those patients had not had the RET testing that all endocrine professional groups r...
Source: Journal of Genetic Counseling - June 27, 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 - June 26, 2018 Category: Genetics & Stem Cells Source Type: research
The Contribution of the Reciprocal-Engagement Model as a Theoretical Framework of a Portuguese Scale for Quality Assessment of Genetic Counseling
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - June 25, 2018 Category: Genetics & Stem Cells Source Type: research
Issue Highlights
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - June 23, 2018 Category: Genetics & Stem Cells Source Type: research
