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 - June 22, 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 - June 19, 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 - June 16, 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 - June 16, 2018 Category: Genetics & Stem Cells Source Type: research
Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study
AbstractThe impact of returning secondary results from exome sequencing (ES) on patients/participants is important to understand as ES is increasingly utilized in clinical care and research. Participants were recruited from studies using ES and were separated into two arms: 107 who had ES and were offered the choice to learn secondary results (ES group) and 85 who had not yet had ES (No ES group). Questionnaires were administered at baseline and 1 and 12 months, following results disclosure (ES group) or enrollment (No ES group). While the majority (65%) elected to learn all results following pre-test counseling, it was ...
Source: Journal of Genetic Counseling - May 10, 2018 Category: Genetics & Stem Cells Source Type: research
Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples
AbstractExpanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to determine reproductive risk. Data on the clinical utility of screening conditions beyond professional guidelines are scarce. Individuals underwent ECS for up to 110 genes. Five-hundred thirty-seven at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to participate in a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results. Sixty-four eligible ARC completed the survey. Of 45 respondents screened preconceptionally, 62% (n = 28) planned IVF wi...
Source: Journal of Genetic Counseling - May 10, 2018 Category: Genetics & Stem Cells Source Type: research
Working with the Hmong Population in a Genetics Setting: an Interpreter Perspective
AbstractThe aim of this pilot qualitative study was to describe the experiences and beliefs of medical interpreters when working with genetic counselors and other genetic providers caring for Hmong patients who are not native English speakers. Specific goals were to identify interpreters ’ thoughts and perceptions on (a) their roles during sessions, (b) unique challenges in a genetics session, (c) knowledge genetics providers need when working with Hmong patients and interpreters, and (d) supports and training needed to effectively interpret in a genetics setting. Hmong medical in terpreters from Wisconsin and Minnesota ...
Source: Journal of Genetic Counseling - May 10, 2018 Category: Genetics & Stem Cells Source Type: research
Evaluation of the Informational Content, Readability and Comprehensibility of Online Health Information on Monogenic Diabetes
AbstractThe purpose of this study was to assess the informational content, readability, suitability and comprehensibility of websites offering educational information about monogenic diabetes available to patients. The top 20 results from 15 queries in four search engines were screened. Content analysis was performed by two independent coders. Readability was determined using Flesch-Kincaid grade level (FKGL) and Simplified Measure of Goobledygook (SMOG). The Comprehensibility Assessment of Materials (SAM + CAM) scale was utilized to evaluate website suitability and comprehensibility. Only 2% (N = 29) of 1200 screened...
Source: Journal of Genetic Counseling - May 10, 2018 Category: Genetics & Stem Cells Source Type: research
Psychosocial Distress and Knowledge Deficiencies in Parents of Children in Ireland Who Carry an Altered Cystic Fibrosis Gene
AbstractSignificant gaps have been identified in parental understanding of CF newborn screening and the consequences of carrying an altered CF gene. Seven potential causes of psychosocial adversity arising from false positive newborn screening for CF have been identified. The current study aimed to increase parents understanding of CF, reduce their levels of stress, and investigate psychosocial adversity arising from false-positive screening. This national study was run over one year in the Republic of Ireland. Parents were recruited for the study following a diagnostic sweat test confirming their child carried a single al...
Source: Journal of Genetic Counseling - May 10, 2018 Category: Genetics & Stem Cells Source Type: research
“Yeah that Made a Big Difference!”: The Importance of the Relationship between Health Professionals and Fathers Who Have a Child with Down Syndrome
This study used interpretative phenomenological analysis (IPA) to explore the experiences of seven fathers who have a child with Down syndrome, focusing on their interactions with health professionals. The analysis showed that the major factors associated with negative experiences were feelings of exclusion, receiving overly negative information about the condition and a perceived lack of on-going suppo rt. Positive experiences were associated with being made to feel like an equal parent, being given direct/clear information and being congratulated on the birth of their child. These results provide an insight into what fat...
Source: Journal of Genetic Counseling - May 10, 2018 Category: Genetics & Stem Cells Source Type: research
Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood
AbstractCatecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmogenic disease with a high risk of sudden cardiac death. The impact on health-related quality of life (HR-QoL) and psychosocial outcomes is not known. We sought to provide the first description of HR-QoL and psychosocial wellbeing of adults with CPVT, parents of affected children and at-risk relatives. Participants were recruited through the Australian Genetic Heart Disease Registry and invited to complete a cross-sectional survey comprising a number of validated scales and open-ended questions. Thirty-five participants complet...
Source: Journal of Genetic Counseling - May 10, 2018 Category: Genetics & Stem Cells Source Type: research
Patients ’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers
AbstractGaucher disease (GD) is an autosomal recessive disease caused byGBA mutations that is especially common in the Ashkenazi Jewish (AJ) population. The link betweenGBA mutations and Parkinson disease (PD), a later-onset neurodegenerative condition, is well established, and studies have shown thatGBA carriers have an increased lifetime risk of developing PD. Carrier screening for GD is frequently offered to couples during or prior to pregnancy, especially to those of AJ descent. However, no studies have been performed to assess if prospective parents would want to learn about their risk of developing PD incidentally th...
Source: Journal of Genetic Counseling - May 10, 2018 Category: Genetics & Stem Cells Source Type: research
The Experience of Genetic Counselors Working with Patients Facing the Decision of Pregnancy Termination after 24 Weeks Gestation
We report respondents’ self-assessments of level of understanding of federal abortion law and abortion procedures. Seventy-six percent of respondents have offered and counseled on termination after 24 weeks and 93% of respondents believe it is the responsibility of the counselor to discuss this o ption with patients. However, one-third report that they have some or no understanding of the procedures and three-quarters report that they have some or no understanding of federal abortion law. The results of this study provide insight into knowledge and experiences of genetic counselors working w ith these patients, allowing...
Source: Journal of Genetic Counseling - May 10, 2018 Category: Genetics & Stem Cells Source Type: research
Making Sense of SNPs: Women ’s Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks
This study suggests that the provision of personalized risk information about breast cancer generated by SNP profiling is understood and well received. However, a model of genetic counsel ing that incorporates monogenic and polygenic genetic information will need to be developed prior to clinical implementation. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - May 10, 2018 Category: Genetics & Stem Cells Source Type: research
Response to Commercial Genetic Testing and the Future of the Genetic Counseling Profession
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - May 10, 2018 Category: Genetics & Stem Cells Source Type: research
