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Journal of Genetic Counseling

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28540620/anxiety-and-hereditary-testing-results
#9
LETTER
Steven Sorscher
No abstract text is available yet for this article.
May 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28536925/parental-perspectives-on-pharmacological-clinical-trials-a-qualitative-study-in-down-syndrome-and-fragile-x-syndrome
#10
Victoria Reines, Krista Charen, Tracie Rosser, Arri Eisen, Stephanie L Sherman, Jeannie Visootsak
Research studies focusing on parents' perspectives of pharmacological clinical trials have not kept pace with the number of emerging pharmacologic clinical trials in Down syndrome (DS) and Fragile X syndrome (FXS). Since individuals with DS or FXS have limited cognitive ability to make decisions about their participation in clinical trials, it is important to consider the parents' perspectives and explore the ways in which decisions are made for their children. Using a semi-structured interview, we enrolled 9 parents of a child(ren) with FXS and 15 with a child with DS to analyze their views, experiences, and knowledge of pharmacological clinical trials...
May 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28536924/response-to-dr-sorscher
#11
LETTER
Heidi Lumish, Wendy Chung
No abstract text is available yet for this article.
May 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28512697/utilization-of-genetic-counseling-after-direct-to-consumer-genetic-testing-findings-from-the-impact-of-personal-genomics-pgen-study
#12
Diane R Koeller, Wendy R Uhlmann, Deanna Alexis Carere, Robert C Green, J Scott Roberts
Direct-to-consumer personal genomic testing (DTC-PGT) results lead some individuals to seek genetic counseling (GC), but little is known about these consumers and why they seek GC services. We analyzed survey data pre- and post-PGT from 1026 23andMe and Pathway Genomics customers. Participants were mostly white (91%), female (60%), and of high socioeconomic status (80% college educated, 43% household income of ≥$100,000). After receiving PGT results, 43 participants (4%) made or planned to schedule an appointment with a genetic counselor; 390 (38%) would have used in-person GC had it been available...
May 16, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28470398/erratum-to-at-the-heart-of-the-pregnancy-what-prenatal-and-cardiovascular-genetic-counselors-need-to-know-about-maternal-heart-disease
#13
Ana Morales, Dawn C Allain, Patricia Arscott, Emily James, Gretchen MacCarrick, Brittney Murray, Crystal Tichnell, Amy R Shikany, Sara Spencer, Sara M Fitzgerald-Butt, Jessica D Kushner, Christi Munn, Emily Smith, Katherine G Spoonamore, Harikrishna S Tandri, W Aaron Kay
No abstract text is available yet for this article.
May 4, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28451876/an-exploration-of-genetic-test-utilization-genetic-counseling-and-consanguinity-within-the-inborn-errors-of-metabolism-collaborative-ibemc
#14
Quinn P Stein, Cate Walsh Vockley, Mathew J Edick, Shaohui Zhai, Sally J Hiner, Rebecca S Loman, Laura Davis-Keppen, Taylor A Zuck, Cynthia A Cameron, Susan A Berry
The Inborn Errors of Metabolism Collaborative (IBEMC) includes clinicians from 29 institutions collecting data to enhance understanding of metabolic conditions diagnosable by newborn screening. Data collected includes hospitalizations, test results, services, and long-term outcomes. Through evaluation of this data, we sought to determine how frequently genetic counseling had been provided, how often genetic testing was performed, and also determine the consanguinity rate in this population. A data query was performed with the following elements abstracted/analyzed: current age, metabolic condition, whether genetic counseling was provided (and by whom), whether genetic testing was performed, and consanguinity...
April 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28444536/a-qualitative-look-into-israeli-genetic-experts-insights-regarding-culturally-competent-genetic-counseling-and-recommendations-for-its-enhancement
#15
Merav Siani, Orit Ben-Zvi Assaraf
The aim of this study is to describe the perceptions and recommendations of Israeli genetic experts in regard to culturally competent genetic counseling. Qualitative data was collected from 15 semi-structured interviews with Israeli genetics experts. Recurring themes were identified using "thematic analysis" and coded by means of "grounded theory". Our analysis divides data from the genetic experts' interviews into four main themes: Why is culturally competent genetic counseling important? (Describing its contribution to individuals and to society); who is the recipient of culturally competent genetic counseling? (Differentiating the needs of counselees based on genetic education, cultural/religious characteristics and geographic location); what should we include in culturally competent genetic counseling? (Addressing the contents that counseling should convey); how should we perform culturally competent genetic counseling? (Addressing the methods that counseling should employ)...
April 25, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28439751/development-of-a-streamlined-work-flow-for-handling-patients-genetic-testing-insurance-authorizations
#16
Wendy R Uhlmann, Katie Schwalm, Victoria M Raymond
Obtaining genetic testing insurance authorizations for patients is a complex, time-involved process often requiring genetic counselor (GC) and physician involvement. In an effort to mitigate this complexity and meet the increasing number of genetic testing insurance authorization requests, GCs formed a novel partnership with an industrial engineer (IE) and a patient services associate (PSA) to develop a streamlined work flow. Eight genetics clinics and five specialty clinics at the University of Michigan were surveyed to obtain benchmarking data...
April 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28434142/cancer-genetic-counseling-and-testing-in-an-era-of-rapid-change
#17
Gillian W Hooker, Keelia Rhoads Clemens, John Quillin, Kristen J Vogel Postula, Pia Summerour, Rebecca Nagy, Adam H Buchanan
The impacts of the Association for Molecular Pathology vs. Myriad Supreme Court decision regarding patenting DNA segments and multi-gene testing on cancer genetic counseling practice have not been well described. We aimed to assess genetic counselors' perceptions of how their genetic testing-related practices for hereditary breast and/or ovarian cancer (HBOC) changed after these events. One-hundred fifty-two genetic counselors from the National Society of Genetic Counselors Cancer Special Interest Group completed an anonymous, online, mixed-methods survey in November 2013...
April 22, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28432537/erratum-to-information-mismatch-cancer-risk-counseling-with-diverse-underserved-patients
#18
Galen Joseph, Rena J Pasick, Dean Schillinger, Judith Luce, Claudia Guerra, Janice Ka Yan Cheng
No abstract text is available yet for this article.
April 21, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28432536/erratum-to-a-qualitative-study-to-explore-the-views-and-attitudes-towards-prenatal-testing-in-adults-who-have-muenke-syndrome-and-their-partners
#19
Julie Phipps, Heather Skirton
No abstract text is available yet for this article.
April 21, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28424951/influence-of-genetic-counseling-graduate-program-websites-on-student-application-decisions
#20
Kristina M Ivan, Susan Hassed, Alix G Darden, Christopher E Aston, Carrie Guy
This study investigated how genetic counseling educational program websites affect application decisions via an online survey sent to current students and recent graduates. Program leadership: directors, assistant directors, associate directors, were also surveyed to determine where their opinions coincided or differed from those reported by students and recent graduates. Chi square analysis and t-tests were used to determine significance of results. A two-sample t-test was used to compare factors students identified as important on a 5-point Likert scale with those identified by directors...
April 19, 2017: Journal of Genetic Counseling
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