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Journal of Genetic Counseling

Katie L Lewis, Flavia M Facio, Courtney D Berrios
Exome and genome sequencing (EGS) are increasingly the genetic testing modalities of choice among researchers owing to their ready availability, low cost, and large data output. Recruitment of larger, more diverse cohorts into long-term studies with extensive data collection is fundamental to the success of EGS research and to the widespread benefit of genomic medicine to various populations. Effective engagement will be critical to meeting this demand. The Diffusion of Innovation (DOI) model provides a framework for how new technologies are adopted in communities, including antecedents of an individual's decision to adopt the technology, how the technology's attributes influence its acceptability, the predictors of sustained use of that technology, and its diffusion through society...
January 17, 2019: Journal of Genetic Counseling
Margret Matias, Katie Wusik, Derek Neilson, Xue Zhang, C Alexander Valencia, Kathleen Collins
Whole exome sequencing (WES) is expected to impact patient management, but data surrounding the types of downstream effects and how frequently these effects are observed depending on the type of WES results received is limited. This study investigated changes to medical management and genetic counseling (GC) options following WES for individuals with positive and negative results. Electronic medical records of patients who had positive (n = 37) or negative (n = 41) WES results from Cincinnati Children's Hospital were retrospectively reviewed...
January 16, 2019: Journal of Genetic Counseling
Jenna J Albiani, Kelly E McShane, Spring Holter, Kara Semotiuk, Melyssa Aronson, Zane Cohen, Tae L Hart
This study examined the differences in perceptions of one's health and one's child's health between parents with Lynch syndrome (LS) characterized with high versus low health anxiety. Twenty-one parents completed semistructured telephone interviews about their perceptions of their own health and the health of their children. Qualitative content analysis using a template coding approach examined the differences between parents with high and low health anxiety. Findings revealed that the most prevalent difference emerged on perceptions of personal health, showing individuals with high health anxiety reported more extreme worries, were more hypervigilant about physical symptoms, experienced the emotional and psychological consequences of LS as more negative and severe, and engaged in more dysfunctional coping strategies than those with low health anxiety...
January 14, 2019: Journal of Genetic Counseling
Sukh Makhnoon, Brian H Shirts, Deborah J Bowen
Variants of uncertain significance (VUS) are a well-recognized source of uncertainty in genomic medicine. Despite the existence of straightforward clinical management recommendations, patients report feeling anxiety, worry, and uncertainty in response to VUS. We report the first structured analysis of patient perspectives of VUS-related uncertainty in genome sequencing using Han's taxonomy of genomic uncertainty. We conducted in-depth semi-structured interviews with 11 patients to elicit their thoughts regarding implications of the result for themselves and their family members...
January 12, 2019: Journal of Genetic Counseling
Felicity K Boardman, Rachel Hale
Members of the public face particular challenges when undergoing reproductive genetic screening. Lack of family history with genetic disease has been identified as a key barrier affecting screening uptake and responses to genetic risk. This study explores this obstacle using beta thalassaemia as a case study. Fifteen in-depth qualitative interviews were conducted exploring the reproductive views and decisions of people at risk of transmitting thalassaemia. Eleven participants had thalassaemia themselves and/or were members of an affected family...
December 24, 2018: Journal of Genetic Counseling
Kelly Reumkens, Marly H E Tummers, Joyce J G Gietel-Habets, Sander M J van Kuijk, Cora M Aalfs, Christi J van Asperen, Margreet G E M Ausems, Margriet Collée, Charlotte J Dommering, C Marleen Kets, Lizet E van der Kolk, Jan C Oosterwijk, Vivianne C G Tjan-Heijnen, Trudy van der Weijden, Christine E M de Die-Smulders, Liesbeth A D M van Osch
A nationwide pretest-posttest study was conducted in all clinical genetic centres in the Netherlands, to evaluate the effects of an online decision aid to support persons who have a genetic predisposition to cancer and their partners in making an informed decision regarding reproductive options. Main outcomes (decisional conflict, knowledge, realistic expectations, level of deliberation, and decision self-efficacy) were measured before use (T0), immediately after use (T1), and at 2 weeks (T2) after use of the decision aid...
December 21, 2018: Journal of Genetic Counseling
Tanya Dwarte, Kristine Barlow-Stewart, Rosie O'Shea, Marcel E Dinger, Bronwyn Terrill
Facilitating informed decision-making regarding genetic testing is a core component of genetic counseling practice. Internationally, genetic testing is shifting toward gene panels and genomic testing, including whole exome and whole genome sequencing to improve diagnostic yield and cost-effectiveness. This study explored genetics practitioners' current experience with panels and genomic tests and the associated evolution of genetic counseling practice. Genetics practitioners with genomic testing experience, were purposively invited to participate in a semi-structured telephone interview and to snowball the invitation to colleagues...
December 15, 2018: Journal of Genetic Counseling
Diane Salema, Anne Townsend, Jehannine Austin
Despite much theory about how genetic counseling facilitates prenatal decision-making, there are limited data regarding patients' perceptions of the process and the role of the genetic counselor (GC). Our aim in this study was to explore patients' perceptions of their prenatal genetic counseling session, with a focus on their relationship with their GC and how factors inside and outside the session influenced their decision-making about amniocentesis. We performed a qualitative study with patients who had seen a GC after maternal serum screening revealed an increased risk for aneuploidy...
December 15, 2018: Journal of Genetic Counseling
Jenny Morgan, Rachel R Coe, Rochelle Lesueur, Ruth Kenny, Roberta Price, Nancy Makela, Patricia H Birch
Compared to European ancestral groups, Indigenous Canadians are more likely to have uninterpretable genome-wide sequencing results due to non-representation in reference databases. We began a conversation with Indigenous Canadians to raise awareness and give voice to this issue. We co-created a video explaining genomic non-representation that included diverse Indigenous view-points. We audio-recorded the focus groups including 30 First Nations, Métis, and Inuit individuals living in Greater Vancouver. After watching an introductory video explaining genomic testing, participants discussed issues surrounding collecting Indigenous genomic data, its control, and usage...
December 14, 2018: Journal of Genetic Counseling
Stacy M Yadava, Elena Ashkinadze
Whole exome sequencing (WES) for prenatal diagnosis has a reported diagnostic yield of 6.2%-57%. Our aim was to identify patients with a high likelihood of genetic diagnosis using WES in cases with fetal ultrasound anomalies. This is a series of five selected cases for prenatal WES at our institution. Pregnant couples were initially identified due to fetal ultrasound anomalies. Candidates for WES for fetal diagnosis had a normal fetal karyotype and negative microarray with at least one of the following: parental consanguinity, large regions of homozygosity on fetal microarray, or high likelihood of single gene disorder based on ultrasound findings...
December 12, 2018: Journal of Genetic Counseling
Courtney A Attard, Erin P Carmany, Angela M Trepanier
Genetic services have historically been time and labor intensive. Little information is known about the proportion of time genetic counselors (GCs) spend face-to-face with patients in comparison to the time spent on patient-related activities (PRA). We aimed to perform a real-time workflow study of GCs representing multiple clinics and specialties. We developed an electronic collection tool formatted in 15-min increments for real-time documentation of how the GC spent his/her time throughout the workday for one full week, based on a defined task list...
December 10, 2018: Journal of Genetic Counseling
Benjamin M Helm, Mark D Ayers, Adam C Kean
Clinical genetics services continue to expand into diverse medical specialties. An ever-increasing number of non-genetics providers are independently ordering genetic tests, interpreting results, and at times, making diagnoses leading to patient care recommendations. Non-genetics healthcare providers can help increase patient access to these services, but a potential pitfall occurs when these providers either do not have adequate expertise with genetic variant interpretation or do not have access to multi-disciplinary teams including genetic counselors or clinical geneticists for advanced review...
December 2018: Journal of Genetic Counseling
Allison Werner-Lin, Shana L Merrill, Amanda C Brandt, Rachel E Barnett, Ellen T Matloff
The original article [1] was initially published with the following list of authors: Allison Werner-Lin, Shana L. Merrill, and Amanda C. Brandt. This author list is now corrected as follows: Allison Werner-Lin, Shana L. Merrill, Amanda C. Brandt, Rachel E. Barnett, & Ellen T. Matloff.
December 2018: 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)...
December 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...
December 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...
December 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...
December 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...
December 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...
December 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...
December 2018: Journal of Genetic Counseling
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