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Journal of Genetic Counseling

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https://www.readbyqxmd.com/read/28815348/counseling-close-to-home-genetic-counselors-experiences-with-their-own-family-members
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28699125/uptake-of-predictive-genetic-testing-and-cardiac-evaluation-for-children-at-risk-for-an-inherited-arrhythmia-or-cardiomyopathy
#14
Susan Christian, Joseph Atallah, Robin Clegg, Michael Giuffre, Cathleen Huculak, Tara Dzwiniel, Jillian Parboosingh, Sherryl Taylor, Martin Somerville
Predictive genetic testing in minors should be considered when clinical intervention is available. Children who carry a pathogenic variant for an inherited arrhythmia or cardiomyopathy require regular cardiac screening and may be prescribed medication and/or be told to modify their physical activity. Medical genetics and pediatric cardiology charts were reviewed to identify factors associated with uptake of genetic testing and cardiac evaluation for children at risk for long QT syndrome, hypertrophic cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy...
July 11, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28689263/variation-among-consent-forms-for-clinical-whole-exome-sequencing
#15
Sara A Fowler, Carol J Saunders, Mark A Hoffman
The goal of this study was to explore variation among informed consent documents for clinical whole exome sequencing (WES) in order to identify the level of consistency with the recommendations from the American College of Medical Genetics and Genomics (ACMG) and the Presidential Commission for the Study of Bioethical Issues (Bioethics Commission) regarding informed consent for clinical WES. Recommendations were organized into a framework of key points for analysis. Content analysis was conducted on a sample of informed consent documents for clinical WES downloaded from 18 laboratory websites...
July 8, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28674770/choosing-between-higher-and-lower-resolution-microarrays-do-pregnant-women-have-sufficient-knowledge-to-make-informed-choices-consistent-with-their-attitude
#16
S L van der Steen, E M Bunnik, M G Polak, K E M Diderich, J Verhagen-Visser, L C P Govaerts, M Joosten, M F C M Knapen, A T J I Go, D Van Opstal, M I Srebniak, R J H Galjaard, A Tibben, S R Riedijk
Developments in prenatal testing allow the detection of more findings. SNP arrays in prenatal diagnosis (PND) can be analyzed at 0.5 Mb resolution detecting more clinically relevant anomalies, or at 5 Mb resolution. We investigated whether women had sufficient knowledge to make informed choices regarding the scope of their prenatal test that were consistent with their attitude. Pregnant women could choose between testing at 5 or at 0.5 Mb array. Consenting women (N = 69) received pre-test genetic counseling by phone and filled out the Measure of Informed Choice questionnaire designed for this study...
July 4, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28667568/family-communication-risk-perception-and-cancer-knowledge-of-young-adults-from-brca1-2-families-a-systematic-review
#17
REVIEW
Alison L Young, Phyllis N Butow, Janine Vetsch, Veronica F Quinn, Andrea F Patenaude, Katherine M Tucker, Claire E Wakefield
Understanding challenges in familial communication of cancer risk has informed genetic service delivery. Parent-child interactions have received considerable attention, but few studies focus on young adulthood experiences within BRCA1/2 families. Young adults are approaching, or at a life stage where awareness of hereditary cancer risk is vital for informed choice of risk management options. This review assesses family communication, risk perception and cancer knowledge held by 18-40 year old individuals who have a parent with a BRCA1/2 gene mutation or carry the gene mutation themselves...
June 30, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28667567/women-s-experience-with-non-invasive-prenatal-testing-and-emotional-well-being-and-satisfaction-after-test-results
#18
Rachèl V van Schendel, G C M Lieve Page-Christiaens, Lean Beulen, Caterina M Bilardo, Marjon A de Boer, Audrey B C Coumans, Brigitte H W Faas, Irene M van Langen, Klaske D Lichtenbelt, Merel C van Maarle, Merryn V E Macville, Dick Oepkes, Eva Pajkrt, Lidewij Henneman
Increasingly, high-risk pregnant women opt for non-invasive prenatal testing (NIPT) instead of invasive diagnostic testing. Since NIPT is less accurate than invasive testing, a normal NIPT result might leave women less reassured. A questionnaire study was performed among pregnant women with elevated risk for fetal aneuploidy based on first-trimester combined test (risk ≥1:200) or medical history, who were offered NIPT in the nationwide Dutch TRIDENT study. Pre- and post-test questionnaires (n = 682) included measures on: experiences with NIPT procedure, feelings of reassurance, anxiety (State-Trait Anxiety Inventory, STAI), child-related anxiety (PRAQ-R), and satisfaction...
June 30, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28667566/connecting-gaucher-and-parkinson-disease-considerations-for-clinical-and-research-genetic-counseling-settings
#19
Lola Cook, Jeanine Schulze
There are multiple autosomal recessive disorders in which carriers may be at risk for other diseases. This observation calls into question the previous understanding that carriers of autosomal recessive disorders escape clinical consequences. We also know that childhood genetic conditions may have adult disease counterparts (Zimran et al., The Israel Medical Association Journal: IMAJ, 16(11), 723-724, 2014). Individuals who have Gaucher disease and carriers of the disorder are at increased risk for a seemingly unrelated and complex neurological condition, Parkinson disease...
June 30, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28667565/is-low-fmr1-cgg-repeat-length-in-males-correlated-with-family-history-of-brca-associated-cancers-an-exploratory-analysis-of-medical-records
#20
Hallee C Adamsheck, Elizabeth M Petty, Jinkuk Hong, Mei W Baker, Murray H Brilliant, Marsha R Mailick
The FMR1 gene has been studied extensively with regard to expansions and premutations, but much less research has focused on potential effects of low CGG repeat length. Previous studies have demonstrated that BRCA1/2 positive women are more likely to have an FMR1 genotype with one low CGG allele, and that women with both FMR1 alleles in the low CGG repeat range are more likely to have had breast cancer compared to women with normal numbers of CGG repeats. However, there has been no research as to whether low CGG repeat length impacts cancer risks in men...
June 30, 2017: Journal of Genetic Counseling
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