Message from the Editor-in-Chief
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - April 25, 2018 Category: Genetics & Stem Cells Source Type: research
Genetic Counselors ’ Experience with and Opinions on the Management of Newborn Screening Incidental Carrier Findings
Discussion surrounding disclosure of these incidental carrier findings remains controversial. The purpose of this study was to assess genetic counselors ’ attitudes about disclosure of carrier status results generated by NBS and to gather data on their experiences with incidental carrier findings. An electronic survey was distributed to genetic counselors of all specialties via the NSGC listserv, and a total of 235 survey responses were analyzed. Quantitative data were analyzed using IBM SPSS v24, and qualitative data were manually analyzed for thematic analysis. Results show that the counselor participants were overall ...
Source: Journal of Genetic Counseling - April 23, 2018 Category: Genetics & Stem Cells Source Type: research
Commentary on “Commercial Genetic Testing and the Future of the Genetic Counseling Profession”
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - April 9, 2018 Category: Genetics & Stem Cells Source Type: research
What to Do with a Second Chance in Life? Long-Term Experiences of Non-carriers of Huntington ’s Disease
In this study, 20 interviews were conducted to explore the long-term (> 5 years) experiences after receiving predictive test results as a non-carrier of HD. The results showed a broad variety of both positive and negative reactions. The most prominent positive reaction reported was feelings of relief and gratitude, of not carrying the HD mutation for themselves and for their children. Also, the non-carrier status promoted in some individuals’ significant life changes such as a wishing to have (more) children, pursuing a career or breaking up from an unhappy relationship. However, negative reactions on their psycho...
Source: Journal of Genetic Counseling - April 7, 2018 Category: Genetics & Stem Cells Source Type: research
Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities
AbstractPatients with newly-described or rare genetic findings are turning to social media to find and connect with others. Blogs, Facebook groups, and Twitter have all been reported as tools for patients to connect with one another. However, the preferences for social media use and privacy among patients, their families, and these communities have not been well characterized. To explore preferences about privacy and membership guidelines, an online survey was administered to two web-based patient registries, Simons Variation in Individuals Project (www.simonsvipconnect.org) and GenomeConnect (www.genomeconnect.org). Over ...
Source: Journal of Genetic Counseling - March 20, 2018 Category: Genetics & Stem Cells Source Type: research
Clinician-Stakeholders ’ Perspectives on Using Patient Portals to Return Lynch Syndrome Screening Results
AbstractTest results for genetic conditions, such as Lynch Syndrome (LS), have traditionally been returned by genetic counselors or other providers who can explain results implications and provide psychosocial support. Returning genetic results through an Electronic Health Record ’s patient portal may increase the efficiency of returning results and could activate patient follow-up; however, stakeholder input is necessary to determine acceptability and appropriate implementation for LS. Twenty interviews were conducted with clinicians from six specialties involved in LS sc reening that represent a range of settings. Data...
Source: Journal of Genetic Counseling - March 20, 2018 Category: Genetics & Stem Cells Source Type: research
The Process of Disclosure: Mothers ’ Experiences of Communicating X-Linked Carrier Risk Information to At-Risk Daughters
AbstractWhen a boy is diagnosed with an X-linked condition such as Duchenne or Becker muscular dystrophy (D/BMD), the mother learns not only of her own potential carrier risk but also that of her daughters. Before the daughters are seen in the Genetics Clinic, responsibility for disclosing carrier risk information falls mainly to their mothers. We know little about if when and how these daughters are being told about their risk, and how mothers find the experience. Should we be doing more to help and support them? Using qualitative methods, six mothers known to the Manchester Centre for Genomic Medicine were interviewed ab...
Source: Journal of Genetic Counseling - March 19, 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 - March 18, 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 - March 17, 2018 Category: Genetics & Stem Cells Source Type: research
Talking Points: Women ’s Information Needs for Informed Decision-Making About Noninvasive Prenatal Testing for Down Syndrome
AbstractAdequate knowledge is a vital component of informed decision-making; however, we do not know what information women value when making decisions about noninvasive prenatal testing (NIPT). The current study aimed to identify women ’s information needs for decision-making about NIPT as a first-tier, non-contingent test with out-of-pocket expense and, in turn, inform best practice by specifying the information that should be prioritized when providing pre-test counseling to women in a time-limited scenario or space-limited de cision support tool. We asked women (N = 242) in Australia to indicate the importance of...
Source: Journal of Genetic Counseling - March 17, 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 - March 10, 2018 Category: Genetics & Stem Cells Source Type: research
A Commentary on Opportunities for the Genetic Counseling Profession through Genomic Variant Interpretation: Reflections from an Ex-Lab Rat
AbstractThe genetic counseling profession continues to expand and respond to the changing landscape of genomic medicine. “Non-traditional” genetic counseling roles have become more commonplace and the transferability of the genetic counselor skill set has been widely acknowledged, particularly in genetic laboratory settings. As these expanding roles continue to mature, all genetic counselors can benefit by learnin g and adopting clinically relevant skills, such as genomic variant interpretation, which can be applied to direct patient care. These skills can enrich our patients’ understanding of their test results, hel...
Source: Journal of Genetic Counseling - March 10, 2018 Category: Genetics & Stem Cells Source Type: research
Exploring the Issues Surrounding Clinical Exome Sequencing in the Prenatal Setting
AbstractExome sequencing is a clinical diagnostic test offered primarily for children and adults with suspected genetic conditions. The purpose of this study was to explore issues related to exome sequencing in a reproductive clinical setting. This was a qualitative study using semi-structured interviews. Participants were professionals drawn from four key stakeholder groups —healthcare providers, laboratory/industry, ethics, and government. Transcribed interviews were analyzed for emergent themes. Most participants saw potential clinical utility in offering prenatal exome sequencing for diagnostic purposes as opposed to...
Source: Journal of Genetic Counseling - March 10, 2018 Category: Genetics & Stem Cells Source Type: research
A Commentary on Commercial Genetic Testing and the Future of the Genetic Counseling Profession
AbstractCommercial genetic testing laboratories are increasingly employing genetic counselors. As a result, the role of these or many genetic counselors is shifting from primarily direct patient counseling in clinics and hospitals to more laboratory-centered activities that involve case coordination, customer liaison, variant classification, marketing, and sales. Given the importance of these commercial entities to the genetic counseling profession, this commentary examines the current financial situation of four publicly traded, genetic testing companies. It also explores how the various roles of genetic counselors are ...
Source: Journal of Genetic Counseling - March 9, 2018 Category: Genetics & Stem Cells Source Type: research
Informed Decision-Making in the Context of Prenatal Chromosomal Microarray
AbstractThe introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i.e., chorionic villus sampling or amnioce...
Source: Journal of Genetic Counseling - March 7, 2018 Category: Genetics & Stem Cells Source Type: research
