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Journal of Genetic Counseling

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https://www.readbyqxmd.com/read/29333562/have-you-ever-googled-a-patient-or-been-friended-by-a-patient-social-media-intersects-the-practice-of-genetic-counseling
#1
NinaMarie F Omaggio, Maria J Baker, Laura J Conway
Patients and healthcare providers are becoming increasingly connected via social media, bringing new opportunities and challenges. Direct connection can occur between patients and providers using online tools such as Facebook and LinkedIn. In addition, providers can gather information about patients using a search engine such as Google, referred to as patient-targeted Googling (PTG). An online 54-item survey was used to gain information on (1) how and to what extent genetic counseling students and genetic counselors connect directly with patients via social media sites, and (2) gather information on providers using PTG...
January 15, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29332197/identification-as-a-mutation-carrier-and-effects-on-life-according-to-experiences-of-finnish-male-brca1-2-mutation-carriers
#2
Outi Kajula, Outi Kuismin, Helvi Kyngäs
Earlier studies have explored post-identification experiences of male BRCA1/2 mutation carriers, but more detailed knowledge of both their experiences and effects of identification as a carrier on their lives is required to improve genetic counseling. Thus, the aim of this study was to acquire deeper and broader insights into their experiences. Qualitative data were collected from theme-based interviews with 31 men carrying BRCA1/2 mutations in Finland, and analyzed using inductive content analysis. Three categories of the participants' responses to identification as BRCA1/2 mutation carriers were identified (personal, offspring-related and related to other relatives), mainly concerning issues associated with cancer, hereditary transmission of their mutations, and life decisions...
January 13, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29302855/2018-national-society-of-genetic-counselors-presidential-address
#3
Erica Ramos
No abstract text is available yet for this article.
January 4, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29297108/psychosocial-profiles-of-parents-of-children-with-undiagnosed-diseases-managing-well-or-just-managing
#4
Allyn McConkie-Rosell, Stephen R Hooper, Loren D M Pena, Kelly Schoch, Rebecca C Spillmann, Yong-Hui Jiang, Heidi Cope, Christina Palmer, Vandana Shashi
Little is known about the psychosocial profiles of parents who have a child with an undiagnosed chronic illness. The National Institutes of Health Undiagnosed Diseases Network (UDN) evaluates individuals with intractable medical findings, with the objective of discovering the underlying diagnosis. We report on the psychosocial profiles of 50 parents whose children were accepted to one of the network's clinical sites. Parents completed questionnaires assessing anxiety, depression, coping self-efficacy, and health care empowerment at the beginning of their child's UDN clinical evaluation...
January 2, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29288411/the-journal-of-genetic-counseling-continuing-to-add-value-to-the-profession
#5
EDITORIAL
Bonnie S LeRoy, Patricia McCarthy Veach
No abstract text is available yet for this article.
December 29, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29282586/genetic-counsellors-and-private-practice-professional-turbulence-and-common-values
#6
Sarah Collis, Clara Gaff, Samantha Wake, Alison McEwen
Genetic counsellors face tensions between past and future identities: between established values and goals, and a broadening scope of settings and activities. This study examines the advent of genetic counsellors in private practice in Australia and New Zealand from the perspectives of the small numbers working in this sector and those who have only worked in public practice. Semi-structured interviews were conducted with 16 genetic counsellors who had experience in private practice, and 14 genetic counsellors without private sector experience...
December 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29280038/physicians-awareness-and-utilization-of-genetic-services-in-texas
#7
Callie Diamonstein, Blair Stevens, S Shahrukh Hashmi, Jerrie Refuerzo, Cathy Sullivan, Jennifer Hoskovec
The number of disorders for which genetic testing is available has increased nearly 500% in the past 15 years. Access to genetic tests and services often hinges on physicians' ability to identify patients at risk for genetic disease and provide appropriate testing and counseling or refer to genetic specialists. Recent research demonstrates the need for referrals to genetic specialists by showing that many physicians lack skills required to perform appropriate genetic services, such as making proper risk assessments, providing genetic counseling, ordering genetic testing and interpreting results...
December 26, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29274073/investigation-of-the-use-of-a-family-health-history-application-in-genetic-counseling
#8
Meghan L Tipsword, Peter S White, Christine G Spaeth, Richard F Ittenbach, Melanie F Myers
The paper-based pedigree is the current standard for family health history (FHH) documentation in genetic counseling. Several tools for electronic capture of family health data have been developed to improve re-use and accessibility, data quality and standardization, ease of updating, and integration with electronic medical records. One such tool, the tablet-based Proband application, provides a flexible approach to data capture in dynamic and diverse clinical settings. This study compared Proband FHH collection to paper-based methods and investigated the usability of Proband in a clinical setting...
December 22, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29270849/the-effect-of-predictive-testing-in-adult-onset-neurodegenerative-diseases-on-social-and-personal-life
#9
Petra E Cohn-Hokke, John C van Swieten, Yolande A L Pijnenburg, Aad Tibben, Hanne Meijers-Heijboer, Anneke Kievit
Follow-up studies on predictive testing for hereditary neurodegenerative diseases mainly focussed on psychological outcomes. We investigated whether the social and personal life of mutation carriers differ negatively from non-carriers and untested at-risk individuals. Asymptomatic individuals (≥ 35 years) who received a genetic test result for Huntington's disease, frontotemporal dementia or Alzheimer's disease more than 2 years before the onset of the study and untested subjects at 50% risk were invited to complete a questionnaire and an additional questionnaire with extra or adjusted items...
December 21, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29264692/using-telemedicine-in-mississippi-to-improve-patient-access-to-genetic-services
#10
Emily Boothe, Julie Kaplan
No abstract text is available yet for this article.
December 21, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29260487/bilingual-cancer-genetic-education-modules-for-the-deaf-community-development-and-evaluation-of-the-online-video-material
#11
Patrick Boudreault, Alicia Wolfson, Barbara Berman, Vickie L Venne, Janet S Sinsheimer, Christina Palmer
Health information about inherited forms of cancer and the role of family history in cancer risk for the American Sign Language (ASL) Deaf community, a linguistic and cultural community, needs improvement. Cancer genetic education materials available in English print format are not accessible for many sign language users because English is not their native or primary language. Per Center for Disease Control and Prevention recommendations, the level of literacy for printed health education materials should not be higher than 6th grade level (~ 11 to 12 years old), and even with this recommendation, printed materials are still not accessible to sign language users or other nonnative English speakers...
December 20, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29260486/an-evidence-based-community-engaged-approach-to-develop-an-interactive-deliberation-tool-for-pediatric-neuromuscular-trials
#12
Rebecca R Moultrie, Megan A Lewis, Ryan S Paquin, Ann Lucas, Jill Jarecki, Holly L Peay
Duchenne/Becker muscular dystrophy (DBMD) and spinal muscular atrophy (SMA) are rare neuromuscular disorders that present challenges to therapeutic and clinical trial decision making. We developed an interactive, evidence-based online tool designed to encourage thoughtful deliberation of the pros and cons of trial participation and to inform meaningful discussions with healthcare providers. Prior research demonstrates the importance of tool availability at the time each family is considering trial participation, which may be prior to the informed consent process...
December 20, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29260485/managing-variant-interpretation-discrepancies-in-hereditary-cancer-clinical-practice-concerns-and-desired-resources
#13
Ellen Zirkelbach, Syed Hashmi, Aarti Ramdaney, Leslie Dunnington, Myla Ashfaq, Elizabeth K Nugent, Kate Wilson
Variant interpretation is a complex process, and classification may vary between sources. This study aimed to determine the practice of cancer genetic counselors regarding discrepancies in variant interpretation and to identify concerns when counseling these discrepancies. An electronic survey was sent to genetic counselors in the NSGC Cancer Special Interest Group. The vast majority of counselors (93%) had seen a variant interpretation discrepancy in practice. A large majority (96%) of respondents indicated that they conducted their own research on reported variants...
December 20, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29260484/breast-cancer-genetics-knowledge-and-testing-intentions-among-nigerian-professional-women
#14
Samuel O Ngene, Babatunde Adedokun, Prisca Adejumo, Olufunmilayo Olopade
Genetic testing services for breast cancer are well established in developed countries compared to African populations that bear a disproportionate burden of breast cancer (BC). The objective of this study is to examine the knowledge of professional Nigerian women about BC genetics and their intentions to utilize genetic testing services when it is made available in Nigeria. In this study, 165 lecturers and 189 bankers were recruited and studied using a validated self-administered questionnaire. The respondents' mean age was 34...
December 19, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29248993/challenges-dilemmas-and-factors-involved-in-pgd-decision-making-providers-and-patients-views-experiences-and-decisions
#15
Robert Klitzman
Providers and patients are considering and pursuing PGD for ever-more conditions, but questions arise concerning how they make, view and experience these decisions, and what challenges they may face. Thirty-seven in-depth semi-structured interviews were conducted (with 27 IVF providers and 10 patients). Patients and providers struggled with challenges and dilemmas about whether to pursue PGD in specific cases, and how to decide. Respondents varied in how they viewed, experienced and made these choices, and for which conditions to pursue PGD (from lethal, childhood-onset conditions to milder, treatable, or adult-onset disorders)...
December 16, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29247312/evaluation-of-breast-cancer-patients-with-genetic-risk-in-a-university-hospital-before-and-after-the-implementation-of-a-heredofamilial-cancer-unit
#16
Miriam Lobo, Sara López-Tarruella, Soledad Luque, Santiago Lizarraga, Carmen Flores-Sánchez, Oscar Bueno, Jesús Solera, Yolanda Jerez, Ricardo González Del Val, María Isabel Palomero, María Cebollero, Isabel Echavarría, Gabriela Torres, Miguel Martín, Iván Márquez-Rodas
The identification of patients at risk for breast cancer by genetic testing has proven to reduce breast cancer mortality. In 2010, due to a lack of systematization in hereditary cancer assistance in our center, we implemented a multidisciplinary Heredofamilial Cancer Unit (HFCU). We analyze if the HFCU improved the rates of referrals and preventive management of breast cancer patients with genetic risk. We retrospectively compared family history records, referrals of high-risk patients to genetic counseling, and detection and management of patients with BRCA1/2 mutations in two cohorts of breast cancer patients diagnosed before (first period: 2007-2010) and after the creation of the HFCU (second period: 2010-2013)...
December 15, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29247311/implementing-group-prenatal-counseling-for-expanded-noninvasive-screening-options
#17
Betsy L Gammon, Laura Otto, Myra Wick, Kristy Borowski, Megan Allyse
Recently, practices have begun integrating cell-free DNA-based noninvasive prenatal screening as a screening option for a variety of genetic conditions. According to the National Society of Genetic Counselors, the integration of cfDNA screening into clinical prenatal practice may "significantly shift the paradigm of prenatal testing and screening for all women." The purpose of this study was to determine whether group information sessions can feasibly serve as an alternative to extended one-on-one genetic counseling for the increasing number of women making decisions about prenatal testing and screening...
December 15, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29243008/examining-the-psychosocial-impact-of-genetic-testing-for-cardiomyopathies
#18
Julia Wynn, David T Holland, Jimmy Duong, Priyanka Ahimaz, Wendy K Chung
Inherited cardiomyopathies, including hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), are the most common monogenic cause of cardiac disease and can rarely lead to sudden cardiac death (SCD). They are characterized by incomplete and age-dependent penetrance and are usually initially symptomatic in adulthood yet can present in childhood as well. Over 20 genes have been identified to cause HCM, and more than 40 genes are known to cause DCM. Genetic testing for these genes has been integrated into medical care; however, the psychological impact of genetic testing and the impact of the uncertainty that comes with receiving these results have not been well studied...
December 15, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29243007/comparison-of-telephone-and-televideo-modes-for-delivery-of-genetic-counseling-a-randomized-trial
#19
Corrine I Voils, Vickie L Venne, Hollis Weidenbacher, Nina Sperber, Santanu Datta
Telephone and televideo have yielded equivalent patient satisfaction and psychosocial outcomes when compared to in-person genetic counseling, yet little is known about how they compare to one another. In this randomized controlled trial, veterans received genetic counseling via telephone or traveled to a clinic to participate via encrypted televideo. Knowledge and visit satisfaction were assessed 2 weeks later. Travel time, mileage, and out-of-pocket costs were calculated for videoconferencing. Qualitative interviews were conducted with patients and counselors to assess acceptability...
December 15, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29234989/clinical-cardiovascular-genetic-counselors-take-a-leading-role-in-team-based-variant-classification
#20
Chloe Reuter, Megan E Grove, Kate Orland, Katherine Spoonamore, Colleen Caleshu
We sought to delineate the genetic test review and interpretation practices of clinical cardiovascular genetic counselors. A one-time anonymous online survey was taken by 46 clinical cardiovascular genetic counselors recruited through the National Society of Genetic Counselors Cardiovascular Special Interest Group. Nearly all (95.7%) gather additional information on variants reported on clinical genetic test reports and most (81.4%) assess the classification of such variants. Clinical cardiovascular genetic counselors typically (81...
December 12, 2017: Journal of Genetic Counseling
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