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 - February 17, 2018 Category: Genetics & Stem Cells Source Type: research
Comparison of Practice Guidelines, BRCAPRO, and Genetic Counselor Estimates to Identify Germline BRCA1 and BRCA2 Mutations in Pancreatic Cancer
In this study, we compared strategies to identify BRCA carriers with PDAC. Incident cases of PDAC were prospectively recruited for BRCA sequencing. Probands were evaluated using the National Comprehensive Cancer Network (NCCN) and the Ontario Ministry of Health and Long-Term Care (MOHLTC) guidelines. The probability of each proband carrying a mutation was estimated by surveying genetic counselors and using BRCAPRO. BRCA mutations were detected in 22/484 (4.5%) probands. 152/484 (31.2%) and 16/484 (3.3%) probands met the NCCN and MOHLTC guidelines, respectively. The NCCN guidelines had higher sensitivity than the MOHLTC gui...
Source: Journal of Genetic Counseling - February 13, 2018 Category: Genetics & Stem Cells Source Type: research
An iPhone Application Intervention to Promote Surveillance Among Women with a BRCA Mutation: Pre-intervention Data
AbstractWomen with BRCA mutations, at significantly increased risk for breast and ovarian cancer, do not consistently adhere to management guidelines due to lack of awareness and challenges tracking appointments. We developed an iPhone application (app) to help BRCA carriers manage their surveillance. We explored baseline awareness and adherence to surveillance guidelines and analytic data from 21 months of app use. Descriptive statistics were calculated on responses (N = 86) to a survey about surveillance awareness and practices. The majority were aware of breast surveillance guidelines, but only one third were awar...
Source: Journal of Genetic Counseling - February 10, 2018 Category: Genetics & Stem Cells Source Type: research
Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls
AbstractNeurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological deficits. Clinical studies have shown impaired health-related quality of life (HQoL) in adults with NF1. However, little is known about HQoL in non-clinical NF1 samples. We conducted a cross-sectional self-report survey of 142 persons with NF1 (M age = 50.3 years, SD = 12.0, range 32 to 80; 62.0% females) recruited from non-clinical settings. Several HQoL domains, including life satisfaction, men...
Source: Journal of Genetic Counseling - February 10, 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 - February 10, 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 - February 9, 2018 Category: Genetics & Stem Cells Source Type: research
Perceived Changes to Obstetric Care and the Integration of Personal and Professional Life as a Pregnant Prenatal Genetic Counselor
AbstractThe impact of practicing as a prenatal genetic counselor while pregnant is unclear given the limited amount of published literature on this issue. To address this gap in knowledge, a total of 215 current and past prenatal genetic counselors provided insights regarding this personal yet professional juncture through completion of an online survey that allowed for both close-ended and open-ended responses. While participants agreed that experiencing pregnancy affected their perspectives and counseling in several ways, this paper focuses on one particular finding —that of the changes in their own obstetric care perc...
Source: Journal of Genetic Counseling - February 8, 2018 Category: Genetics & Stem Cells Source Type: research
Time Costs for Genetic Counseling in Preconception Carrier Screening with Genome Sequencing
This study examined the time needed to provide genetic counseling for GS in the context of preconception carrier screening. Genetic counselors prospectively reported on the time spent in the results disclosure process with 107 study participants who were part of the NextGen study. We found that the median time for results disclosure was 64 min (ranged from 5 to 229 min). Preparation work was the most time-consuming activity. Qualitative data from journal entries, debrief interviews with genetic counselors, and detailed case conference notes provided information on factors influencing time for results disclosure and impl...
Source: Journal of Genetic Counseling - February 8, 2018 Category: Genetics & Stem Cells Source Type: research
A Two-Phase Approach to Developing SNAP: an iPhone Application to Support Appointment Scheduling and Management for Women with a BRCA Mutation
Discussion groups identified preferred intervention format and function in phase I. Findings indicated carriers desired a phone application (app) to assist with surveillance management and appointment tracking. Thus, an iPhone app for carriers to track appointments based on published surveillance guidelines was developed. In phase II, we obtained feedback fromBRCA carriers via a survey during a prototype demonstration at a regional conference. Participants in phase II wanted reminder capabilities and the ability to add and modify information fields. This feedback informed intervention modifications, resulting in the Schedu...
Source: Journal of Genetic Counseling - February 8, 2018 Category: Genetics & Stem Cells Source Type: research
“Bridge to the Literature”? Third-Party Genetic Interpretation Tools and the Views of Tool Developers
AbstractPatients and health care consumers can obtain access to their “raw,” or uninterpreted, genetic data from direct-to-consumer genetic testing companies, researchers, or providers and pursue self-directed analysis via third-party interpretation tools. Yet relatively little is known about the nature of currently available interpretation tools or the motivation s of tool developers. We conducted a structured content analysis of 23 third-party interpretation tool websites and supporting information, tracking features such as types of information returned, modes of generating and presenting that information, and priva...
Source: Journal of Genetic Counseling - February 7, 2018 Category: Genetics & Stem Cells Source Type: research
“Second-Class Status?” Insight into Communication Patterns and Common Concerns Among Men with Hereditary Breast and Ovarian Cancer Syndrome
This study serves as a pilot study and provides important and novel insights into psychosocial impacts, communication patterns, encounters with health care prof essionals, and expressed needs of males with HBOC. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - February 5, 2018 Category: Genetics & Stem Cells Source Type: research
Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca —One Center’s Experience with Two Immigrant Farmworker Families in the Central Valley of California
We report on our experience with two families of this community —one extended family with an early lethal inborn error of metabolism and the other with a chronic disfiguring form of ichthyosis. We identified multiple important factors that needed to be considered, including the matching of language dialects, adaptation to different social interaction conventio ns, acknowledgement of traditional medicine beliefs, and effective transmission of genetic terms and concepts, all of which should be incorporated into the interactions with these families when aiming to provide comprehensive genetic counseling. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - February 3, 2018 Category: Genetics & Stem Cells Source Type: research
The Promise and Pitfalls of Facebook Advertising: a Genetic Counselor ’s Perspective
We describe our experience as genetic counselors within the context of an internet-based research study, recruiting subjects for a Parkinson disease (PD) biomarker study. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - February 2, 2018 Category: Genetics & Stem Cells Source Type: research
A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia
AbstractThe Professional Society of Genetic Counselors in Asia (PSGCA) was recently established as a special interest group of the Asia Pacific Society of Human Genetics. Fostering partnerships across the globe, the PSGCA’s vision is to be the lead organization that advances and mainstreams the genetic counseling profession in Asia and ensures individuals have access to genetic counseling services. Its mission is to promote qual ity genetic counseling services in the region by enhancing practice and curricular standards, research and continuing education. The PSGCA was formally launched during the Genetic Counseling Pr...
Source: Journal of Genetic Counseling - February 1, 2018 Category: Genetics & Stem Cells Source Type: research
Variation among Consent Forms for Clinical Whole Exome Sequencing
AbstractThe goal of this study was to explore variation among informed consent documents for clinical whole exome sequencing (WES) in order to identify the level of consistency with the recommendations from the American College of Medical Genetics and Genomics (ACMG) and the Presidential Commission for the Study of Bioethical Issues (Bioethics Commission) regarding informed consent for clinical WES. Recommendations were organized into a framework of key points for analysis. Content analysis was conducted on a sample of informed consent documents for clinical WES downloaded from 18 laboratory websites. We observed considera...
Source: Journal of Genetic Counseling - February 1, 2018 Category: Genetics & Stem Cells Source Type: research
