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Journal of Genetic Counseling

Amy Simpson, Richard Ross, John Porter, Simon Dixon, Martin J Whitaker, Amy Hunter
Research into adrenal insufficiency (AI) and congenital adrenal hyperplasia (CAH) in children has focused largely on clinical consequences for patients; and until recently, the wider experience of the condition from the perspective of other family members has been neglected. In a mixed methods study, we captured the experiences of parents of young children affected by AI/CAH, including their views on the psychosocial impact of living with and managing the condition. Semi-structured interviews were carried out in the UK and an online survey was developed, translated and disseminated through support groups (UK and the Netherlands) and outpatient endocrinology clinics (Germany)...
July 7, 2018: Journal of Genetic Counseling
Harry G Fraser, Rebecca Z Redmond, Diana F Scotcher
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive degenerative muscular conditions. Carrier testing is available to at-risk females. Though carrier testing is often offered to adolescent females, it raises ethical issues related to autonomy. This study aimed to address the impact of DMD/BMD carrier testing during adolescence, to elucidate what motivates adolescents to seek testing, and to assess the carrier testing experience. Retrospective semi-structured telephone interviews were conducted with 12 women out of 28 initially contacted...
July 4, 2018: Journal of Genetic Counseling
Emily A Rauscher, Marleah Dean, Gemme M Campbell-Salome
Men with a germline pathogenic BRCA1 or BRCA2 variant have increased risks for developing breast, pancreatic, prostate, and melanoma cancers, but little is known about how they understand and manage their cancer risks. This study examines how men with BRCA-related cancer risks manage uncertainty and information about their risks. Twenty-five men who were either a BRCA carrier or have a BRCA-positive first-degree family member that put the participant at 50% chance of also being a BRCA carrier were interviewed for this study...
July 3, 2018: Journal of Genetic Counseling
K M Stuttgen, J M Bollinger, R L Dvoskin, A McCague, B Shpritz, J Brandt, Debra J H Mathews
This qualitative study gathered opinions about genetic testing from people who received presymptomatic testing for Huntington's disease (HD) 20-30 years ago and have lived with the implications of that testing for decades. During the last section of a semi-structured interview, participants were asked open-ended questions about their opinions on the importance of autonomy in the decision to be tested for HD, whether a formal HD testing protocol is necessary, whether physician ordering for HD is acceptable without a formal protocol, whether online direct-to-consumer (DTC) genetic testing for HD is acceptable, and whether incidental/secondary findings should be returned in the context of whole exome/genome sequencing...
July 2, 2018: Journal of Genetic Counseling
Patricia McCarthy Veach, Bonnie S Leroy
No abstract text is available yet for this article.
July 1, 2018: Journal of Genetic Counseling
Patricia K Agatisa, Mary Beth Mercer, Marissa Coleridge, Ruth M Farrell
The expansion of cell-free fetal DNA (cfDNA) screening for a larger and diverse set of genetic variants, in addition for use among the low-risk obstetric population, presents important clinical challenges for all healthcare providers involved in the delivery of prenatal care. It is unclear how to leverage the different members of the healthcare team to respond to these challenges. We conducted interviews with 25 prenatal genetic counselors to understand their experience with the continued expansion of cfDNA screening...
June 27, 2018: Journal of Genetic Counseling
Emily Parkhurst, Elise Calonico, Sridevi Abboy
Medullary thyroid carcinoma (MTC) is often due to the hereditary condition multiple endocrine neoplasia type 2 (MEN2) and it is standard of care to offer genetic testing to all diagnosed patients. This study used the Kaiser Permanente integrated medical record system to identify patients at risk for MEN2, assess adherence to clinical practice guidelines, and offer genetic counseling and testing. A query of the electronic medical records system identified patients with MTC. All patients with MTC who had not had RET gene testing, as well as patients who had positive RET gene testing, but had not yet had genetic counseling, were contacted and offered a genetics consultation...
June 27, 2018: Journal of Genetic Counseling
Laila Andoni, Wendy L Hobson, John C Carey, Karin M Dent
Genetic counselors and clinical geneticists are often in the position of delivering difficult news (DDN) to patients and families. Many studies show that healthcare providers require major improvement in the skills needed in DDN in a manner that is satisfactory to their patients. The purpose of this study was to assess the amount and methodology of DDN training received by genetic counselors and medical genetics residents in their training programs, such as observations of DDN or attending didactic lectures...
June 27, 2018: Journal of Genetic Counseling
Sarah M Nielsen, Lenika M De Simone, Olufunmilayo I Olopade
Prior to 2013, genetic testing for Ashkenazi Jewish (AJ) individuals primarily consisted of the three-site BRCA1/BRCA2 AJ panel, full sequencing of BRCA1/2, or the Lynch syndrome mismatch repair genes. Multigene panel testing became more widely available in 2013, but limited data are available regarding the impact of multigene panel testing for AJ individuals. Here, we report the frequency of cancer susceptibility gene mutations in a cohort of 427 AJ individuals seen in the Cancer Risk Clinic at The University of Chicago...
June 26, 2018: Journal of Genetic Counseling
C Costa, M S Lemos, Milena Paneque
No abstract text is available yet for this article.
June 25, 2018: Journal of Genetic Counseling
Sarah Caldwell, Katie Wusik, Hua He, Geoffrey Yager, Carrie Atzinger
The 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)...
June 22, 2018: Journal of Genetic Counseling
Devanshi Patel, Erica L Blouch, Linda H Rodgers-Fouché, Margaret M Emmet, Kristen M Shannon
The 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...
June 19, 2018: Journal of Genetic Counseling
C Roadhouse, C Shuman, K Anstey, K Sappleton, D Chitayat, E Ignagni
Genetic 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 experience...
June 16, 2018: Journal of Genetic Counseling
Corinna L Schultz, Melissa A Alderfer, Robert B Lindell, Zachary McClain, Kristin Zelley, Kim E Nichols, Carol A Ford
Li-Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome that may present with a first cancer before or during adolescence/young adulthood. Families offered LFS genetic testing for their children can inform our understanding of how the unique developmental context of adolescence influences parental perspectives about genetic testing and discussions of cancer risk. In this study, semi-structured interviews were conducted with 46 parents of children at risk for LFS to capture those perspectives...
June 16, 2018: Journal of Genetic Counseling
Pnina Mor, Sarah Brennenstuhl, Kelly A Metcalfe
Women with a germline pathogenic variant in the BReast CAncer susceptibility genes (BRCA1 or BRCA2) have an increased risk of early-onset breast and ovarian cancer. In addition to weighing cancer screening and risk-reduction options, healthy BRCA mutation carriers of childbearing age may choose to preclude passing the mutation to the next generation. In the current study, we report on preimplantation genetic diagnosis (PGD) practices in BRCA-positive Israeli women who were offered PGD at no cost. METHODS: we measured PGD uptake, decision satisfaction or regret, and predictors of uptake...
June 1, 2018: Journal of Genetic Counseling
Tarryn Shaw, Julie Metras, Zoe Ang Li Ting, Eliza Courtney, Shao-Tzu Li, Joanne Ngeow
The increase in demand for clinical cancer genetics services has impacted the ability to provide services timeously. Given limited resources, this often results in extended appointment waiting times. Over the last 3 years, the Cancer Genetics Service at the National Cancer Centre Singapore has continued to experience a steady increase in demand for its service. Nevertheless, significant no-show rates have been reported. This study sought to determine whether an association exists between appointment waiting times and attendance rates...
May 24, 2018: Journal of Genetic Counseling
Erica M Bednar, Michael T Walsh, Ellen Baker, Kimberly I Muse, Holly D Oakley, Rebekah C Krukenberg, Cara S Dresbold, Sandra B Jenkinson, Amanda L Eppolito, Kelly B Teed, Molly H Klein, Nichole A Morman, Elizabeth C Bowdish, Pauline Russ, Emaline E Wise, Julia N Cooper, Michael W Method, John W Henson, Andrew V Grainger, Banu K Arun, Karen H Lu
An environmental scan (ES) is an efficient mixed-methods approach to collect and interpret relevant data for strategic planning and project design. To date, the ES has not been used nor evaluated in the clinical cancer genetics setting. We created and implemented an ES to inform the design of a quality improvement (QI) project to increase the rates of adherence to national guidelines for cancer genetic counseling and genetic testing at three unique oncology care settings (OCS). The ES collected qualitative and quantitative data from reviews of internal processes, past QI efforts, the literature, and each OCS...
May 16, 2018: Journal of Genetic Counseling
Sarah Wright, Mary Porteous, Diane Stirling, Julia Lawton, Oliver Young, Charlie Gourley, Nina Hallowell
This paper explores patients' views and experiences of undergoing treatment-focused BRCA1 and BRCA2 genetic testing (TFGT), either offered following triaging to clinical genetics (breast cancer) or as part of a mainstreamed care pathway in oncology (ovarian cancer). Drawing on 26 in-depth interviews with patients with breast or ovarian cancer who had undergone TFGT, this retrospective study examines patients' views of genetic testing at this point in their care pathway, focusing on issues, such as initial response to the offer of testing, motivations for undergoing testing, and views on care pathways...
May 11, 2018: Journal of Genetic Counseling
(no author information available yet)
No abstract text is available yet for this article.
June 2018: Journal of Genetic Counseling
Jennifer Hoskovec
No abstract text is available yet for this article.
June 2018: Journal of Genetic Counseling
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