Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies
This study surveyed 90 adult probands and relatives with a personal or family history of cardiomyopathy from a single hospital-based cardiac genetic program to determine the psychosocial impact of genetic testing for cardiomyopathies. Standardized psychological instruments including an adapted Multidimensional Impact of Cancer Risk Assessment (aMICRA), Impact of Event Scale (IES), and Satisfaction with Decision (SWD) scales were utilized. Patients with positive genetic test results had higher scores for intrusive thoughts, avoidance, and distress when compared to those with negative genetic test results and were also more ...
Source: Journal of Genetic Counseling - December 15, 2017 Category: Genetics & Stem Cells Source Type: research
Comparison of Telephone and Televideo Modes for Delivery of Genetic Counseling: a Randomized Trial
AbstractTelephone and televideo have yielded equivalent patient satisfaction and psychosocial outcomes when compared to in-person genetic counseling, yet little is known about how they compare to one another. In this randomized controlled trial, veterans received genetic counseling via telephone or traveled to a clinic to participate via encrypted televideo. Knowledge and visit satisfaction were assessed 2 weeks later. Travel time, mileage, and out-of-pocket costs were calculated for videoconferencing. Qualitative interviews were conducted with patients and counselors to assess acceptability. Of the 20 male patients rand...
Source: Journal of Genetic Counseling - December 15, 2017 Category: Genetics & Stem Cells Source Type: research
Implementing Group Prenatal Counseling for Expanded Noninvasive Screening Options
This study assessed the effect of group genetic information sessions coupled with abbreviated counseling on pregnant women ’s knowledge about and attitudes toward prenatal testing and screening. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - December 15, 2017 Category: Genetics & Stem Cells Source Type: research
Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit
In conclusion, there was a clear improvement in family history records, referrals, and preventive surgeries in breast cancer patients with genetic risk after the implementation of the HFCU. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - December 15, 2017 Category: Genetics & Stem Cells Source Type: research
Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification
AbstractWe sought to delineate the genetic test review and interpretation practices of clinical cardiovascular genetic counselors. A one-time anonymous online survey was taken by 46 clinical cardiovascular genetic counselors recruited through the National Society of Genetic Counselors Cardiovascular Special Interest Group. Nearly all (95.7%) gather additional information on variants reported on clinical genetic test reports and most (81.4%) assess the classification of such variants. Clinical cardiovascular genetic counselors typically (81.0%) classify variants in collaboration with cardiologist and/or geneticist colleague...
Source: Journal of Genetic Counseling - December 12, 2017 Category: Genetics & Stem Cells Source Type: research
Impact of a Patient-Facing Enhanced Genomic Results Report to Improve Understanding, Engagement, and Communication
The objective of this study was to” test the effectiveness of an enhanced genomic report on patient-centered outcome domains including communication, engagement and satisfaction. “Study design utilized” a prospective, randomized, mixed-methods desctiptive study of a whole genome sequencing results report, GenomeCOMPASS™, that was accessed by providers through the electronic health record and by patients through the associated patient portal. “The study was set in” an integrated healthcare delivery system in central Pennsylvania. “Eighty-four” parents of 46 children with undi agnosed Intellectual Disability,...
Source: Journal of Genetic Counseling - December 4, 2017 Category: Genetics & Stem Cells Source Type: research
Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives
AbstractChildren with Beckwith-Wiedemann Syndrome (BWS) and Isolated Hemihypertrophy (IHH) are at an increased risk for developing tumors. Tumor screening in this population is currently being reassessed by several groups and the effect on patients and patient-families has been argued both as a reason to screen and not to screen. Parental perspectives on this topic have never been systematically addressed for the BWS population. Here, we conducted a parent-based survey to evaluate knowledge and attitudes toward tumor screening in patients affected by BWS/IHH. A total of 261 surveys were completed. Overall, parents reported...
Source: Journal of Genetic Counseling - December 4, 2017 Category: Genetics & Stem Cells Source Type: research
High-Risk Palliative Care Patients ’ Knowledge and Attitudes about Hereditary Cancer Testing and DNA Banking
This study aimed to estimate genetic testing prevalence among high-risk palliative care patients in a National Cancer Institute-designated comprehensive cancer center. We also aimed to understand these patients ’ understanding of, and attitudes toward, hereditary cancer testing and DNA banking. Palliative care in-patients with cancer completed structured interviews, and their medical records were reviewed. Among patients at high risk for hereditary cancer, we assessed history of genetic testing/DNA banki ng; and related knowledge and attitudes. Among 24 high-risk patients, 14 (58.3%) said they/their relatives had genetic...
Source: Journal of Genetic Counseling - December 4, 2017 Category: Genetics & Stem Cells Source Type: research
Genesurance Counseling: Genetic Counselors ’ Roles and Responsibilities in Regards to Genetic Insurance and Financial Topics
This study sought to examine “genesurance counseling” which we defined as: that portion of a genetic counseling session, whether intentional or non-intentional, that is devoted to the topic of costs and insurance/third party coverage (particularly for genetic testing). Our objective was to assess genetic counselors’ pract ices and perspective related to genesurance counseling. A survey link was sent by e-mail to members of the National Society of Genetic Counselors (approximately 3100 NSGC members). A total of 571 genetic counselors participated in the survey of which 550 identified as clinical genetic counselors. Su...
Source: Journal of Genetic Counseling - December 4, 2017 Category: Genetics & Stem Cells Source Type: research
Implementing a Virtual Health Telemedicine Program in a Community Setting
AbstractAurora Health Care in eastern Wisconsin has a clinical genetics program driven by genetic counselors in the cancer/adult and prenatal genetics settings. In 2015, the workforce shortage of genetic counselors left us with 4 open positions for genetic counselors that we were unable to fill. We explored many models of alternative service delivery, and determined virtual health (VH) via telemedicine to be the best option for our system. Historically, telemedicine technologies have been used to provide access to healthcare services to patients in remote areas. We, however, were struggling to find genetics counselors to s...
Source: Journal of Genetic Counseling - December 4, 2017 Category: Genetics & Stem Cells Source Type: research
Development and Evaluation of a Telephone Communication Protocol for the Delivery of Personalized Melanoma Genomic Risk to the General Population
We describe the development and evaluation of a communication protocol for disclosing melanoma genomic risk information to the asymptomatic general population and assess participants ’ satisfaction and acceptability. Participants (n = 117) were aged 22–69 years, living in New South Wales, Australia and unselected for family history. They provided a saliva sample and had genomic testing for melanoma for low to moderate penetrant melanoma susceptibility variants in 21 gen es. Participants could choose to receive their results from a genetic counselor via telephone, followed by a mailed booklet or to receive their ri...
Source: Journal of Genetic Counseling - December 3, 2017 Category: Genetics & Stem Cells Source Type: research
Presented Abstracts from the Thirty Sixth Annual Conference of the National Society of Genetic Counselors (Columbus, OH, September 2017)
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - November 6, 2017 Category: Genetics & Stem Cells Source Type: research
Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study
AbstractDirect-to-consumer personal genomic testing (DTC-PGT) results lead some individuals to seek genetic counseling (GC), but little is known about these consumers and why they seek GC services. We analyzed survey data pre- and post-PGT from 1026 23andMe and Pathway Genomics customers. Participants were mostly white (91%), female (60%), and of high socioeconomic status (80% college educated, 43% household income of ≥$100,000). After receiving PGT results, 43 participants (4%) made or planned to schedule an appointment with a genetic counselor; 390 (38%) would have used in-person GC had it been available. Compared to n...
Source: Journal of Genetic Counseling - November 6, 2017 Category: Genetics & Stem Cells Source Type: research
Universal BRCA1/BRCA2 Testing for Ovarian Cancer Patients is Welcomed, but with Care: How Women and Staff Contextualize Experiences of Expanded Access
AbstractDecreasing costs of genetic testing and advances in treatment for women with cancer with germlineBRCA1/BRCA2 mutations have heralded more inclusive genetic testing programs. The Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study, investigates the feasibility and acceptability of offering genetic testing to all women recently diagnosed with epithelial ovarian cancer (universal genetic testing or UGT). Study participants and staff were interviewed to: (i) assess the impact of UGT (ii) integrate patients ’ and staff perspectives in the development of new UGT programs. Semi-structured interviews were conducte...
Source: Journal of Genetic Counseling - November 6, 2017 Category: Genetics & Stem Cells Source Type: research
“It was an Emotional Baby”: Previvors’ Family Planning Decision-Making Styles about Hereditary Breast and Ovarian Cancer Risk
AbstractWomen who test positive for aBRCA genetic mutation are at an increased risk for developing hereditary breast and ovarian cancer and have a 50% chance of passing on their genetic mutation to their children. The purpose of this study was to investigate how women who test positive for aBRCA mutation but have not been diagnosed with cancer make decisions regarding family planning. Analysis of interviews with 20 women revealed they engage in logical and emotional decision-making styles. Although women want to be logical to reduce their hereditary cancer risk, emotions often complicate their decision-making. Women experi...
Source: Journal of Genetic Counseling - November 6, 2017 Category: Genetics & Stem Cells Source Type: research
