Family Communication About Genetic Risk of Hereditary Cardiomyopathies and Arrhythmias: an Integrative Review
AbstractScreening for hereditary cardiomyopathies and arrhythmias (HCA) may enable early detection, treatment, targeted surveillance, and result in effective prevention of debilitating complications and sudden cardiac death. Screening at-risk family members for HCA is conducted through cascade screening. Only half of at-risk family members are screened for HCA. To participate in screening, at-risk family members must be aware of their risk. This often relies on communication from diagnosed individuals to their relatives. However, family communication is not well understood and is ripe for developing interventions to improv...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy
This study explored experiences of HCM genetic testing to identify potential benefits and harms. Thirty-two individuals previously offered genetic testing for HCM were recruited. Semi-structured int erviews were conducted face-to-face or by phone, and transcribed audio-recordings were coded using framework analysis. Key themes were as follows: (1) helping the next generation, (2) misunderstanding risk, (3) discrepancy between actual/perceived impact. Participants described multiple psychologica l (shock, worry, uncertainty) and behavioural (career, sport, insurance, family planning) consequences, depending on perceived ris...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Factors Influencing Clinical Follow-Up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Uninformative BRCA1 and BRCA2 Testing
AbstractGenetic testing for inherited cancer risk has recently improved through the advent of multi-gene panels and the addition of deletion and duplication analysis of theBRCA genes. The primary aim of this study was to determine which factors influence the intent of individuals with a personal history of breast and/or ovarian cancer and negative or uncertainBRCA1 andBRCA2 testing to return to a hereditary cancer program for additional genetic risk assessment, counseling, and testing. Surveys were sent to 1197 individuals and 257 were returned. Of those participants who were planning to return to clinic, most cited having...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Attitudes Toward and Uptake of Prenatal Genetic Screening and Testing in Twin Pregnancies
This study aimed to explore the attitudes toward and uptake of current prenatal genetic screening and diagnostic testing options for fetal aneuploidy in twin pregnancies. Women being seen for genetic counseling with twin gestations were recruited for participation in a descriptive study with questionnaire (n = 42) and semi-structured phone interview (n = 15). Women were significantly more in favor of screening than diagnostic testing (p = 0.049). Sixty-nine (n = 25) percent elected screening, while one participant had a diagnostic procedure. Women were interested in screening for preparation or reassurance ...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents
This study aimed to explore the experiences of parents of children with PKU under the age of two. It is the first study to examine these experiences in this way. Seven parents were interviewed about their experiences, and interpretative phenomenological analysis was used to analyse the data. Three main themes were identified:control,striving for normality andacceptance of PKU as a continuum. Links between the themes and processes underpinning the results were explored with relation to existing literature and theories from a clinical psychology perspective. The role of acceptance of PKU was central to the parent ’s experi...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing
AbstractWith the advent of widespread genomic testing for diagnostic indications and disease risk assessment, there is increased need to optimize genetic counseling services to support the scalable delivery of precision medicine. Here, we describe how we operationalized the reciprocal engagement model of genetic counseling practice to develop a framework of counseling components and strategies for the delivery of genomic results. This framework was constructed based upon qualitative research with patients receiving genomic counseling following online receipt of potentially actionable complex disease and pharmacogenomics re...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Parkinson ’s Disease: Patients’ Knowledge, Attitudes, and Interest in Genetic Counseling
This study is the first to demonstrate an interest in genetic counseling among patients with PD. Our findings demonstrate a new niche for genetic counselors to support patients in clarifying gaps or misconceptions in knowledge about PD genetics as well as the possible risks, benefits, and limitations of genetic testing. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium
AbstractClinical and research settings are increasingly incorporating genomic sequencing (GS) technologies. Previous research has explored reasons for declining genetic testing and participation in genetic studies; however, there is a dearth of literature regarding why potential participants decline participation in GS research, and if any of these reasons are unique to GS. This knowledge is essential to promote informed decision-making and identify potential barriers to research participation and clinical implementation. We aggregated data from seven sites across the National Institutes of Health ’s Clinical Sequencing ...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Development and Pilot Testing of a Decision Aid for Genomic Research Participants Notified of Clinically Actionable Research Findings for Cancer Risk
This study aimed to produce and pilot test a decision aid to assist participants in genomic research studies who are notified of clinically actionable research findings to make informed choices regarding uptake of genetic counseling. Development was guided by published literature, the International Patient Decision Aid Standards, and the expertise of a steering committee of clinicians, researchers, and consumers. Decision aid acceptability was assessed by self-report questionnaire. All 19 participants stated that the decision aid was easy to read, clearly presented, increased their understanding of the implications of taki...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Reduction of Health Care Costs and Improved Appropriateness of Incoming Test Orders: the Impact of Genetic Counselor Review in an Academic Genetic Testing Laboratory
This study provides evidence of the significant contribution of genetic counselors in a laboratory setting and demonstrates the benefit of laboratories working with ordering providers to identify the best test for their patients. The review of test orde rs by a genetic counselor both improves genetic test ordering strategies and decreases the amount of health care dollars spent on genetic testing. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Pediatric and Adult Recommendations Vary for Sibling Testing in Cystic Fibrosis
This study explored sibling testing recommendations in pediatric and adult practice using a survey that was emailed to CF clinicians. There were 58 respondents. Results revealed that 82.5% of pediatric and 36.4% of adult care respondents reported always recommending diagnostic testing for siblings of a newly diagnosed patient. In adult care, another 33.3% reported recommending diagnostic testing if the sibling has symptoms. In pediatric care, whether the sibling had newborn screening was most influential. Most pediatric respondents prefer the sweat chloride test, while 40% in adult practice prefer familial mutation analysi...
Source: Journal of Genetic Counseling - October 1, 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 - October 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 - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Development and Validation of the Genetic Counseling Self-Efficacy Scale (GCSES)
This study describes the development of a self-efficacy scale that is specific to genetic counseling and based both on Bandura ’s self-efficacy theory (2006) and the Accreditation Council for Genetic Counseling practice-based competencies (2013). The phase 1 validation compared genetic counseling students (n = 20) and genetic counselors (n = 18). Nine items were removed from the scale at this point for lack of discrimination or redundancy. The phase 2 validation included a larger cohort of genetic counseling students (n = 168). Factor analysis identified six factors accounting for 58% of the total variance. C...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
Pregnant Genetic Counselors in an Era of Advanced Genomic Tests: What Do the Experts Test Prenatally?
This study aimed to understand how the most knowledgeable patients, i.e., pregnant genetic counselors, act in their own pregnancies, thereby gaining insight into the impact of patients ’ knowledge on the diagnostic process. Seventeen interviews were conducted with Israeli genetic counselors, either pregnant or up to 2 years post-pregnancy. A third of the participants chose not to have CMA while two thirds underwent it despite no detected abnormalities. Although knowledge was th e main motivation, counselors varied in the desired degree of information. Two thirds of those opting for CMA wished to have all findings identi...
Source: Journal of Genetic Counseling - October 1, 2018 Category: Genetics & Stem Cells Source Type: research
