Anxiety and Hereditary Testing Results
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - September 4, 2017 Category: Genetics & Stem Cells Source Type: research
Physician Experiences and Understanding of Genomic Sequencing in Oncology
AbstractThe amount of information produced by genomic sequencing is vast, technically complicated, and can be difficult to interpret. Appropriately tailoring genomic information for non-geneticists is an essential next step in the clinical use of genomic sequencing. To initiate development of a framework for genomic results communication, we conducted eighteen qualitative interviews with oncologists who had referred adult cancer patients to a matched tumor-normal tissue genomic sequencing study. In our qualitative analysis, we found varied levels of clinician knowledge relating to sequencing technology, the scope of the tu...
Source: Journal of Genetic Counseling - August 24, 2017 Category: Genetics & Stem Cells Source Type: research
Experiences of Genetic Counselors Practicing in Rural Areas
AbstractIn-person genetic counseling clinics in rural areas are likely to improve access to genetic counseling in underserved regions, but studies have not previously examined how these clinics function or described the experience of practicing in a rural setting. The present mixed-methods study explored the professional experiences of clinical genetic counselors who practice in rural areas, including the benefits and challenges of practicing in these settings and the counselors ’ motivations for doing so. The authors surveyed 20 genetic counselors who self-reported working in rural areas and conducted interviews with si...
Source: Journal of Genetic Counseling - August 22, 2017 Category: Genetics & Stem Cells Source Type: research
Counseling Close to Home: Genetic Counselors ’ Experiences with their own Family Members
AbstractGenetic counselors are trained to provide personalized genetic information and support to clients and their families. When requests for counseling comes from the counselor ’s own family member, should that counselor still provide service? There is a paucity of literature regarding genetic counselors counseling their own family members and no specific recommendations regarding how to reply to requests for genetic information from relatives. The purpose of this mixed methods study was to report genetic counselors’ and genetic counseling students’ perspectives and experiences providing genetic counseling to rela...
Source: Journal of Genetic Counseling - August 16, 2017 Category: Genetics & Stem Cells Source Type: research
Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies
AbstractType 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapies (ERTs). More recently, oral substrate reduction therapies (SRTs) were approved for treatment of GD. Although both therapies alleviate disease symptoms, attitudes toward SRTs and patient perceptions of health while using SRT have not been well established. Electronic surveys were administered to adults with GD and asked about treatment history, attitudes toward SRTs, and perception of health while using SRTs as compared to ERTs, if applicable to the participa...
Source: Journal of Genetic Counseling - August 13, 2017 Category: Genetics & Stem Cells Source Type: research
Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy
AbstractCare guidelines for Duchenne/Becker muscular dystrophy (DBMD) include recommendations for assessment of caregivers of patients with DBMD followed by proactive psychosocial interventions. To inform clinical assessment, this study described appraisals of psychosocial needs and caregiving facilitators of mothers of individuals with DBMD. Two hundred and five mothers completed an online survey. More than 50% endorsed unmet needs for managing uncertainty about the future and managing DBMD fears. Higher levels of unmet need were associated with less disease progression/earlier stage of DBMD (rho = −0.166p = 0.02)....
Source: Journal of Genetic Counseling - August 12, 2017 Category: Genetics & Stem Cells Source Type: research
The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene
AbstractThe clinical significance of the c.427G>A (p.A143T) variant inGLA is a topic of debate within the lysosomal storage disease community. A review of the literature and published case reports found the clinical impact of the variant to range from classic Fabry symptoms to healthy unaffected males with normal alpha- galactosidase enzyme levels, leaving clinicians unsure of how to manage these individuals. As the number of states testing for Fabry disease on their newborn screening panel has increased, more people with this variant are being identified. The goal of this project was to learn how the uncertainty surrou...
Source: Journal of Genetic Counseling - August 10, 2017 Category: Genetics & Stem Cells Source Type: research
Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial
AbstractTo increase accessibility to genetics services for low-urgency patients seeking Ashkenazi Jewish (AJ) carrier screening, we designed an interactive computer (IC) module that provides pre-test genetics education and allows genetics professionals to order the test without meeting the patients beforehand. We compared this module with in-person genetic counseling (GC) using a randomized trial. AJ individuals were randomized to undergo genetics education via the IC module (n = 26) or GC (n = 28). We compared post-interventional genetics knowledge, perceived genetic risk, and anxiety between the two groups, after acc...
Source: Journal of Genetic Counseling - August 9, 2017 Category: Genetics & Stem Cells Source Type: research
Cancer Counseling of Low-Income Limited English Proficient Latina Women Using Medical Interpreters: Implications for Shared Decision-Making
This study identified communication patterns in CGC sessions with this population and assessed how these patterns facilitate or inhibit the decision-making process during the sessions. We analyzed 24 audio recordings of CGC sessions conducted in Spanish via telephone interpreters at two public hospitals. Patients were referred for risk of hereditary breast and ovarian cancer; all were offered genetic testing. Audio files were coded by two bilingual English-Spanish researchers and analyzed using conventional content analysis through an iterative process. The 24 sessions included 13 patients, 6 counselors, and 18 interpreter...
Source: Journal of Genetic Counseling - August 9, 2017 Category: Genetics & Stem Cells Source Type: research
Cancer Genetic Counseling and Testing: Perspectives of Epithelial Ovarian Cancer Patients and Gynecologic Oncology Healthcare Providers
The objective was to assess provider behaviors and attitudes and patient knowledge and attitudes towards genetic counseling and testing. An online survey was distributed to Society of Gynecologic Oncology members and a written questionnaire was administered to patients diagnosed with epithelial ovarian cancer at a tertiary care referral center. Most of the 233 (18% response rate) provider respondents were gynecologic oncologists. Access to a genetic counselor was reported by 87% of providers and 55% deferred all testing to genetic counselors. Of 53 ovarian cancer patient respondents, two-thirds had previously seen a geneti...
Source: Journal of Genetic Counseling - August 7, 2017 Category: Genetics & Stem Cells Source Type: research
Blue Genes? Understanding and Mitigating Negative Consequences of Personalized Information about Genetic Risk for Depression
AbstractPersonalized genetic testing for vulnerability to mental disorders is expected to become increasingly common. It is therefore important to understand whether learning about one ’s genetic risk for a mental disorder has negative clinical implications, and if so, how these might be counteracted. Among participants with depressive symptoms, we administered a sham biochemical test purportedly revealing participants’ level of genetic risk for major depression. Participants told that they carried a genetic predisposition to depression expressed significantly lower confidence in their ability to cope with depressive s...
Source: Journal of Genetic Counseling - August 7, 2017 Category: Genetics & Stem Cells Source Type: research
When to Consider Risk-Reducing Mastectomy in BRCA1/BRCA2 Mutation Carriers with Advanced Stage Ovarian Cancer: a Case Study Illustrating the Genetic Counseling Challenges
This article includes a case report, a review of the relevant literature and considers some implications for practice. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - August 5, 2017 Category: Genetics & Stem Cells Source Type: research
FDA Approval of PARP Inhibitors and the Impact on Genetic Counseling and Genetic Testing Practices
This study explored the impact of PARPi/CDx™ on genetic counselors’ (GCs) counseling and testing practices. One hundred twenty three GCs responded to an online survey regarding pre- and post-FDA approval referral patterns, testing strategies/influences, and anecdotal experiences with insurance coverage of PARPi forBRCA1/2 positive patients through a non-CDx ™ platform. Following PARPi approval, 40% of respondents reported an increase in overall referrals of ovarian cancer patients and 20% had an increase in post-test counseling only referrals. The majority (61.9%) of respondents reported no change in genetic testing ...
Source: Journal of Genetic Counseling - August 5, 2017 Category: Genetics & Stem Cells Source Type: research
Breast Cancer Risk Assessment at the Time of Screening Mammography: Perceptions and Clinical Management Outcomes for Women at High Risk
AbstractThe purpose of this study was to evaluate the utility of a breast cancer risk assessment (BCRA) at the time of screening mammogram. Women whose BCRA indicated a high risk for cancer received a letter with instructions for breast health care and genetic counseling if appropriate. After 6 months this group received surveys to evaluate their risk perception and their recall of, and compliance with, recommendations. We also explored the impact of other variables such as a recommendation for genetic counseling and physician communication with the women. After the BCRA, the majority of high risk women reported no chang...
Source: Journal of Genetic Counseling - July 8, 2017 Category: Genetics & Stem Cells Source Type: research
Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance
AbstractProviders and patients encounter challenges related to the management of Variants of Unknown Significance (VUS). A VUS introduces new counseling dilemmas for the understanding and psychosocial impact of uncertain genetic test results. This descriptive study uses Mishel ’s theory of uncertainty in illness to explore the experience of individuals who have received a VUS as part of the genetic testing process. Semi-structured interviews were conducted with 27 adult individuals who received a VUS for Lynch syndrome mismatch repair genes between 2002 and 2013. The in terviews were transcribed and analyzed. Most indivi...
Source: Journal of Genetic Counseling - July 8, 2017 Category: Genetics & Stem Cells Source Type: research
