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Journal of Genetic Counseling

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https://www.readbyqxmd.com/read/28916957/perspectives-of-women-considering-bilateral-prophylactic-mastectomy-and-their-peers-towards-a-telephone-based-peer-support-intervention
#1
D St-Pierre, K Bouchard, L Gauthier, J Chiquette, Michel Dorval
Prophylactic mastectomy is an effective strategy to reduce the risk of breast cancer for women carrying a BRCA1/2 germline mutation. This decision is complex and may raise various concerns. Women considering this surgery have reported their desire to discuss the implications of this procedure with women who have undergone prophylactic mastectomy. We conducted a qualitative study to describe the topics covered during a telephone-based peer support intervention between women considering prophylactic mastectomy (recipients) and women who had undergone this surgery (peers), and to explore their perspectives regarding the intervention...
September 15, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28905158/referrals-to-mental-health-services-exploring-the-referral-process-in-genetic-counseling
#2
Mitchell Cunningham, Mary Morreale, Angela Trepanier
Genetic counselors (GCs) are trained to identify and attend to distress; however, GCs may have patients with distress better managed by mental health professionals (MHPs). To understand the GCs' role in mental health care, we explored patient cues prompting GCs to refer to MHPs and where GCs thought their expertise in managing patient distress ended. We recruited GCs who have referred a patient for mental health services within the last year to participate in an interview study. A twelve-question interview guide explored GC demographics, reasons for referrals to MHPs, the obstacles to referrals, and perceived differences in counseling competencies between GCs and MHPs...
September 13, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28900785/training-to-provide-psychiatric-genetic-counseling-how-does-it-impact-recent-graduates-and-current-students-readiness-to-provide-genetic-counseling-for-individuals-with-psychiatric-illness-and-attitudes-towards-this-population
#3
Ashley Low, Shannan Dixon, Amanda Higgs, Jessica Joines, Catriona Hippman
Mental illness is extremely common and genetic counselors frequently see patients with mental illness. Genetic counselors report discomfort in providing psychiatric genetic counseling (GC), suggesting the need to look critically at training for psychiatric GC. This study aimed to investigate psychiatric GC training and its impact on perceived preparedness to provide psychiatric GC (preparedness). Current students and recent graduates were invited to complete an anonymous survey evaluating psychiatric GC training and outcomes...
September 12, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28879629/feasibility-of-coping-effectiveness-training-for-caregivers-of-children-with-autism-spectrum-disorder-a-genetic-counseling-intervention
#4
Christy Haakonsen Smith, Erin Turbitt, John Muschelli, Lori Leonard, Katie L Lewis, Brian Freedman, Michelle Muratori, Barbara B Biesecker
Caregivers of children with autism spectrum disorder (ASD) may find it difficult to feel a sense of control and to cope with the overall physical and emotional demands of caring for their child. While caregivers are able to successfully cope with a high level of stress, there are limits to their resources and abilities to cope over time. Genetic counselors working with affected families may be able to help parents more effectively manage stress related to the disorder. Few short-term interventions have been reported in genetic counseling yet implementation of evidence-based examples may be achievable...
September 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28879467/relieving-the-bottleneck-an-investigation-of-barriers-to-expansion-of-supervision-networks-at-genetic-counseling-training-programs
#5
Jordan Berg, Jennifer Hoskovec, S Shahrukh Hashmi, Patricia McCarthy Veach, Allison Ownby, Claire N Singletary
Rapid growth in the demand for genetic counselors has led to a workforce shortage. There is a prevailing assumption that the number of training slots for genetic counseling students is linked to the availability of clinical supervisors. This study aimed to determine and compare barriers to expansion of supervision networks at genetic counseling training programs as perceived by supervisors, non-supervisors, and Program Directors. Genetic counselors were recruited via National Society of Genetic Counselors e-blast; Program Directors received personal emails...
September 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28840409/physician-experiences-and-understanding-of-genomic-sequencing-in-oncology
#6
Caroline M Weipert, Kerry A Ryan, Jessica N Everett, Beverly M Yashar, Arul M Chinnaiyan, J Scott Roberts, Raymond De Vries, Brian J Zikmund-Fisher, Victoria M Raymond
The 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 tumor genomic sequencing study, and incidental germline findings...
August 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28831644/experiences-of-genetic-counselors-practicing-in-rural-areas
#7
Margaret Emmet, Quinn Stein, Erin Thorpe, MaryAnn Campion
In-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 six individuals whose workplaces were confirmed as rural per RUCA code...
August 22, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28815348/counseling-close-to-home-genetic-counselors-experiences-with-their-own-family-members
#8
Laura Rust, Hallee Adamsheck, Catherine A Reiser, Elizabeth M Petty
Genetic 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 relatives...
August 16, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28803392/attitudes-of-individuals-with-gaucher-disease-toward-substrate-reduction-therapies
#9
Victoria F Wagner, Hope Northrup, S Shahrukh Hashmi, Joanne M Nguyen, Mary Kay Koenig, Jessica M Davis
Type 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 participant...
August 13, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28803420/psychosocial-needs-and-facilitators-of-mothers-caring-for-children-with-duchenne-becker-muscular-dystrophy
#10
Holly L Peay, Bettina Meiser, Kathleen Kinnett, Aad Tibben
Care 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...
August 12, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28799081/the-psychosocial-impact-of-carrying-a-debated-variant-in-the-gla-gene
#11
Sarah Macklin, Dawn Laney, Emily Lisi, Andrea Atherton, Elizabeth Smith
The clinical significance of the c.427G>A (p.A143T) variant in GLA 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...
August 10, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28791541/cancer-counseling-of-low-income-limited-english-proficient-latina-women-using-medical-interpreters-implications-for-shared-decision-making
#12
Daniella Kamara, Jon Weil, Janey Youngblom, Claudia Guerra, Galen Joseph
In cancer genetic counseling (CGC), communication across language and culture challenges the model of practice based on shared decision-making. To date, little research has examined the decision-making process of low-income, limited English proficiency (LEP) patients in CGC. 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...
August 9, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28791521/online-module-for-carrier-screening-in-ashkenazi-jewish-individuals-compared-with-in-person-genetics-education-a-randomized-controlled-trial
#13
Chia Wei Fan, Lysanne Castonguay, Sonja Rummell, Sébastien Lévesque, John J Mitchell, Guillaume Sillon
To 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 accounting for pre-interventional scores, using ANCOVA...
August 9, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28785836/cancer-genetic-counseling-and-testing-perspectives-of-epithelial-ovarian-cancer-patients-and-gynecologic-oncology-healthcare-providers
#14
Margaret I Liang, Deanna H Wong, Christine S Walsh, Robin Farias-Eisner, Joshua G Cohen
Multi-gene panel testing has expanded the genetic information available to cancer patients. 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...
August 7, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28785835/blue-genes-understanding-and-mitigating-negative-consequences-of-personalized-information-about-genetic-risk-for-depression
#15
Matthew S Lebowitz, Woo-Kyoung Ahn
Personalized 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 symptoms than participants told they did not carry this predisposition...
August 7, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28780755/when-to-consider-risk-reducing-mastectomy-in-brca1-brca2-mutation-carriers-with-advanced-stage-ovarian-cancer-a-case-study-illustrating-the-genetic-counseling-challenges
#16
Beverley Speight, Marc Tischkowitz
Germline mutations in BRCA1/BRCA2 significantly increase the risk of breast and ovarian cancer in women. This case report describes a BRCA1 germline mutation identified in a woman with stage IV epithelial ovarian cancer and the provision of genetic counseling about BRCA1-associated breast cancer risk in the three years following diagnosis. The report centers on the patient's enquiry about risk-reducing breast surgery. We focus on the challenges for health professionals and patients in understanding and balancing the risks and benefits of major prophylactic surgery in the context of a potentially life-limiting cancer diagnosis...
August 5, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28780754/fda-approval-of-parp-inhibitors-and-the-impact-on-genetic-counseling-and-genetic-testing-practices
#17
Kathryn M Buchtel, Kristen J Vogel Postula, Shelly Weiss, Carmen Williams, Mario Pineda, Scott M Weissman
In December 2014, the FDA approved olaparib, a poly(ADP-ribose) polymerase inhibitor (PARPi) for ovarian cancer patients who have failed three or more lines of chemotherapy and have a germline BRCA1/2 mutation identified through a companion diagnostic test (BRACAnalysis CDx™ (CDx™)) offered exclusively by Myriad Genetic Laboratories. 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 for BRCA1/2 positive patients through a non-CDx™ platform...
August 5, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28735371/identifying-symptoms-of-distress-in-youth-living-with-neurofibromatosis-type-1-nf1
#18
Lori Wiener, Haven Battles, Sima Zadeh Bedoya, Andrea Baldwin, Brigitte C Widemann, Maryland Pao
Children and adolescents with Neurofibromatosis type 1 (NF1) are at increased risk for wide-ranging behavioral, developmental, and cognitive impairments and decreased quality of life. To date, no psychosocial screening tool has been developed to quickly assess the symptoms that 1) can be addressed during routine medical appointments in children with NF1, 2) can produce interpretable and actionable results, 3) can be integrated into medical care, and 4) can quickly identify patients at risk in order to better address that the provision of appropriate care are available...
July 23, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28707139/patients-knowledge-of-prenatal-screening-for-trisomy-21
#19
Michal Sheinis, Kira Bensimon, Amanda Selk
This study's objective was to assess the knowledge of prenatal screening for Trisomy 21 in pregnant women in one institution in Canada. A cross-sectional survey measuring demographics, knowledge of screening, and health literacy, was administered to pregnant women. Of the 135 women who completed the survey, 74% had adequate knowledge of Trisomy 21 and associated screening procedures. Twenty-eight point one percent of women did not receive any counseling. Overall, 29.5% of women did not know that the screening test was optional and 10...
July 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28699126/a-report-on-ten-asia-pacific-countries-on-current-status-and-future-directions-of-the-genetic-counseling-profession-the-establishment-of-the-professional-society-of-genetic-counselors-in-asia
#20
Mercy Y Laurino, Kathleen A Leppig, Peter James Abad, Breana Cham, Yoyo Wing Yiu Chu, Saahil Kejriwal, Juliana M H Lee, Darci L Sternen, Jennifer K Thompson, Matthew J Burgess, Shu Chien, Niby Elackatt, Jiin Ying Lim, Thanyachai Sura, Sultana Faradz, Carmencita Padilla, Eva Cutiongco de-la Paz, Donny Nauphar, Khanh Ngoc Nguyen, Olya Zayts, Dung Chi Vu, Meow-Keong Thong
The Professional Society of Genetic Counselors in Asia (PSGCA) was recently established as a special interest group of the Asia Pacific Society of Human Genetics. Fostering partnerships across the globe, the PSGCA's vision is to be the lead organization that advances and mainstreams the genetic counseling profession in Asia and ensures individuals have access to genetic counseling services. Its mission is to promote quality genetic counseling services in the region by enhancing practice and curricular standards, research and continuing education...
July 11, 2017: Journal of Genetic Counseling
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