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Journal of Genetic Counseling

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https://www.readbyqxmd.com/read/28707139/patients-knowledge-of-prenatal-screening-for-trisomy-21
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28664217/impairment-experiences-identity-and-attitudes-towards-genetic-screening-the-views-of-people-with-spinal-muscular-atrophy
#10
Felicity K Boardman, Philip J Young, Frances E Griffiths
Developments in genetics are rapidly changing the capacity and scope of screening practices. However, people with genetic conditions have been under-represented in the literature exploring their implications. This mixed methods study explores the attitudes of people with Spinal Muscular Atrophy (SMA) towards three different population-level genetic screening programmes for SMA: pre-conception, prenatal and newborn screening. Drawing on qualitative interviews (n = 15) and a survey (n = 82), this study demonstrates that more severely affected individuals with early-onset symptoms (Type II SMA), are less likely to support screening and more likely to view SMA positively than those with milder, later onset and/or fluctuating symptoms (Types III/ IV SMA)...
June 30, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28660354/working-with-the-hmong-population-in-a-genetics-setting-genetic-counselor-perspectives
#11
Aime Agather, Jennifer Rietzler, Catherine A Reiser, Elizabeth M Petty
The Hmong language lacks words for many familiar Western medical genetic concepts which may impact genetic counseling sessions with individuals of Hmong ancestry who have limited English proficiency. To study this interaction, a qualitative, semi-structured interview was designed to address genetic counselors' experiences of genetic counseling sessions working with individuals with Hmong ancestry. Genetic counselors in the three states with the largest population of Hmong individuals (California, Minnesota and Wisconsin) were invited via email to participate in a telephone interview...
June 28, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28643080/elaboration-of-the-reciprocal-engagement-model-of-genetic-counseling-practice-a-qualitative-investigation-of-goals-and-strategies
#12
Krista Redlinger-Grosse, Patricia McCarthy Veach, Bonnie S LeRoy, Heather Zierhut
As the genetic counseling field evolves, a comprehensive model of practice is critical. The Reciprocal-Engagement Model (REM) consists of 5 tenets and 17 goals. Lacking in the REM, however, are well-articulated counselor strategies and behaviors. The purpose of the present study was to further elaborate and provide supporting evidence for the REM by identifying and mapping genetic counseling strategies to the REM goals. A secondary, qualitative analysis was conducted on data from two prior studies: 1) focus group results of genetic counseling outcomes (Redlinger-Grosse et al...
June 22, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28616832/-if-it-helps-it-s-worth-a-try-an-investigation-of-perceptions-and-attitudes-about-genetic-counseling-among-southern-manitoba-hutterites
#13
Amber P Gemmell, Patricia McCarthy Veach, Ian MacFarlane, Rachel Riesgraf, Bonnie S LeRoy
Few studies have explored the public's views of genetic counseling services, and even fewer focus on founder populations with high prevalence of genetic disease, such as Hutterites. The Hutterites are an Anabaptist religious group grounded in a strong Christian faith. The primary aim of this study was to assess Hutterites' views of genetic counseling services. A secondary aim was to compare their views to those obtained in a study of rural Midwestern U.S. residents (Riesgraf et al., Journal of Genetic Counseling, 24(4), 565-579, 2015)...
June 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28616831/invasive-prenatal-diagnostic-testing-recommendations-are-influenced-by-maternal-age-statistical-misconception-and-perceived-liability
#14
Talya Miron-Shatz, Sivan R Rapaport, Naama Srebnik, Yaniv Hanoch, Jonina Rabinowitz, Glen M Doniger, Linda Levi, Jonathan J Rolison, Avi Tsafrir
Funding policy and medico-legal climate are part of physicians' reality and might permeate clinical decisions. This study evaluates the influence of maternal age and government funding on obstetrician/gynecologist recommendation for invasive prenatal testing (i.e. amniocentesis) for Down syndrome (DS), and its association with the physician's assessment of the risk of liability for medical malpractice unless they recommend amniocentesis. Israeli physicians (N = 171) completed a questionnaire and provided amniocentesis recommendations for women at 18 weeks gestation with normal preliminary screening results, identical except aged 28 and 37...
June 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28616830/the-efficacy-of-genetic-counseling-for-psychiatric-disorders-a-meta-analysis
#15
Ramona Moldovan, Sebastian Pintea, Jehannine Austin
Psychiatric illnesses are complex, highly heritable disorders that have substantial implications for both affected individuals and their families. Though genetic testing is currently limited in its clinical usefulness in this area, interest in genetic counseling for psychiatric disorders has a relatively long history and many positive outcomes have been posited. Yet, empirical studies of genetic counseling outcomes have been emerging only more recently. The aim of the current meta-analysis was to analyze the efficacy of genetic counseling and explore potential moderators of its effect...
June 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28612151/the-genetics-journey-a-case-report-of-a-genetic-diagnosis-made-30-years-later
#16
Linford A Williams, Shane C Quinonez, Wendy R Uhlmann
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant condition that was first described in 2006. The causative gene, EFTUD2, identified in 2012. We report on a family that initially presented to a pediatric genetics clinic in the 1980s for evaluation of multiple congenital anomalies. Re-evaluation of one member thirty years later resulted in a phenotypic and molecularly confirmed diagnosis of MFDM. This family's clinical histories and the novel EFTUD2 variant identified, c.1297_1298delAT (p...
June 13, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28578465/perspectives-and-practices-of-athletic-trainers-and-team-physicians-implementing-the-2010-ncaa-sickle-cell-trait-screening-policy
#17
Mary Anne McDonald, Melissa S Creary, Jill Powell, Lori-Ann Daley, Charlotte Baker, Charmaine Dm Royal
Sickle cell trait (SCT) is usually benign. However, there are some conditions that may lead to SCT-related problems and put athletes with the trait at particular risk. In 2010 the National Collegiate Athletic Association (NCAA) issued a policy that required all Division I (DI) student-athletes to confirm their SCT status or sign a liability waiver to opt out of testing. Athletic trainers and team physicians play key roles in the policy implementation and we examined their perceptions and practices. Between December 2013 and March 2014 we interviewed 13 head athletic trainers and team physicians at NCAA Division I colleges and universities in North Carolina...
June 3, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28547664/-it-was-a-lot-tougher-than-i-thought-it-would-be-a-qualitative-study-on-the-changing-nature-of-being-a-hemophilia-carrier
#18
Charlotte von der Lippe, Jan C Frich, Anna Harris, Kari Nyheim Solbrække
Studies on carriers of genetic disorders mainly focus on the process of genetic testing and reproductive choices, and less on how psychosocial aspects of being a carrier change over time. Our study sought to understand more about the psychosocial aspects of hemophilia carrier status, and thereby improve counseling aiming to advance carriers' quality of life and well-being. We analyzed 16 in-depth interviews from women who were carriers of hemophilia and had a son with hemophilia. Three themes emerged: Guilt and sorrow across generations; the choices and future consequences of genetic testing; and preparing to have a child with hemophilia...
May 26, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28547663/pediatric-predispositional-genetic-risk-communication-potential-utility-for-prevention-and-control-of-melanoma-risk-as-an-exemplar
#19
Yelena P Wu, Darren Mays, Wendy Kohlmann, Kenneth P Tercyak
Predispositional genetic testing among minor children is intensely debated due to the potential benefits and harms of providing this type of genetic information to children and their families. Existing guidelines on pediatric genetic testing state that predispositional testing could be appropriate for minors if preventive services exist that mitigate children's risk for or severity of the health condition in question. We use the example of hereditary melanoma to illustrate the rationale for and potential application of genetic risk communication for an adult-onset cancer to a pediatric population where childhood behaviors may reduce risk of disease later in life...
May 25, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28540621/universal-brca1-brca2-testing-for-ovarian-cancer-patients-is-welcomed-but-with-care-how-women-and-staff-contextualize-experiences-of-expanded-access
#20
Hannah Shipman, Samantha Flynn, Carey F MacDonald-Smith, James Brenton, Robin Crawford, Marc Tischkowitz, Nicholas J Hulbert-Williams
Decreasing costs of genetic testing and advances in treatment for women with cancer with germline BRCA1/BRCA2 mutations have heralded more inclusive genetic testing programs. The Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study, investigates the feasibility and acceptability of offering genetic testing to all women recently diagnosed with epithelial ovarian cancer (universal genetic testing or UGT). Study participants and staff were interviewed to: (i) assess the impact of UGT (ii) integrate patients' and staff perspectives in the development of new UGT programs...
May 24, 2017: Journal of Genetic Counseling
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