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Journal of Genetic Counseling

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28386791/motivation-perception-and-treatment-beliefs-in-the-myocardial-infarction-genes-mi-genes-randomized-clinical-trial
#10
Sharma Kattel, Tochukwu Onyekwelu, Sherry-Ann Brown, Hayan Jouni, Erin Austin, Iftikhar J Kullo
Little is known about individuals' motivation, perception, and treatment beliefs towards the use of genetic information in risk estimates for coronary heart disease (CHD). In this study, participants at intermediate 10-year risk of CHD were randomized to receive either their estimated conventional risk score (CRS) alone, or a CRS and a genetic risk score (GRS), by a genetic counselor. Surveys on motivation to participate in and perception of genetic testing for CHD were administered at 3 months and treatment beliefs at 6 months following risk disclosure...
April 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28374142/insights-into-brca1-2-genetic-counseling-from-ethnically-diverse-latina-breast-cancer-survivors
#11
Neha Rajpal, Juliana Muñoz, Beth N Peshkin, Kristi D Graves
Despite the disproportionate underuse of genetic counseling and testing for BRCA1/2 (BRCA)-associated hereditary breast and ovarian cancer (HBOC) risk among Latinas, little is known about the associated barriers and facilitators. We conducted in-depth qualitative interviews with 20 at-risk Latina women from diverse backgrounds. Eligible women were diagnosed with breast cancer <50 years, with or without a family history of breast and/or ovarian cancer (>1 first-degree relative diagnosed <50 years)...
April 4, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28361381/prospective-evaluation-of-predictive-dna-testing-for-huntington-s-disease-in-a-large-german-center
#12
Aysegül Ibisler, Sebastian Ocklenburg, Susanne Stemmler, Larissa Arning, Jörg T Epplen, Carsten Saft, Sabine Hoffjan
We present a prospective study of counselees seeking predictive testing for Huntington's disease at the Huntington Center North Rhine-Westphalia (Bochum, Germany) between 2010 and 2012. The aim was to observe the decision-making process of at-risk individuals and explore their experiences following the decision as well as the impacts of positive and negative mutation results. Data were collected using two standardized questionnaires as well as via a semi-standardized telephone interview one year after the initial counseling session...
March 30, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28357778/impact-of-panel-gene-testing-for-hereditary-breast-and-ovarian-cancer-on-patients
#13
Heidi S Lumish, Hallie Steinfeld, Carrie Koval, Donna Russo, Elana Levinson, Julia Wynn, James Duong, Wendy K Chung
Recent advances in next generation sequencing have enabled panel gene testing, or simultaneous testing for mutations in multiple genes for a clinical condition. With more extensive and widespread genetic testing, there will be increased detection of genes with moderate penetrance without established clinical guidelines and of variants of uncertain significance (VUS), or genetic variants unknown to either be disease-causing or benign. This study surveyed 232 patients who underwent genetic counseling for hereditary breast and ovarian cancer to examine the impact of panel gene testing on psychological outcomes, patient understanding, and utilization of genetic information...
March 29, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28357777/public-s-views-toward-return-of-secondary-results-in-genomic-sequencing-it-s-almost-all-about-the-choice
#14
Kerry A Ryan, Raymond G De Vries, Wendy R Uhlmann, J Scott Roberts, Michele C Gornick
The therapeutic use of genomic sequencing creates novel and unresolved questions about cost, clinical efficacy, access, and the disclosure of sequencing results. The disclosure of the secondary results of sequencing poses a particularly challenging ethical problem. Experts disagree about which results should be shared and public input - especially important for the creation of disclosure policies - is complicated by the complex nature of genetics. Recognizing the value of deliberative democratic methods for soliciting informed public opinion on matters like these, we recruited participants from a clinical research site for an all-day deliberative democracy (DD) session...
March 29, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28349288/genetic-counselors-perception-of-the-effect-on-practice-of-laws-restricting-abortion
#15
Caitlin Cooney, Laura Hercher, Komal Bajaj
In 2013, twenty-two states enacted seventy provisions restricting access to abortion. The legislation restricted access to abortions by instituting more regulations on providers and facilities, by prohibiting abortion prior to viability, by restricting funding available to patients and by requiring patients to wait a mandatory time period before having a procedure. Genetic counselors are trained to provide unbiased, comprehensive information in a non-directive style in order to allow patients to exercise their reproductive freedom...
March 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28345121/outcomes-of-a-randomized-controlled-trial-of-genomic-counseling-for-patients-receiving-personalized-and-actionable-complex-disease-reports
#16
Kevin Sweet, Amy C Sturm, Tara Schmidlen, Joseph McElroy, Laura Scheinfeldt, Kandamurugu Manickam, Erynn S Gordon, Shelly Hovick, J Scott Roberts, Amanda Ewart Toland, Michael Christman
There has been very limited study of patients with chronic disease receiving potentially actionable genomic based results or the utilization of genetic counselors in the online result delivery process. We conducted a randomized controlled trial on 199 patients with chronic disease each receiving eight personalized and actionable complex disease reports online. Primary study aims were to assess the impact of in-person genomic counseling on 1) causal attribution of disease risk, 2) personal awareness of disease risk, and 3) perceived risk of developing a particular disease...
March 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28337671/a-psychological-perspective-on-factors-predicting-prophylactic-salpingo-oophorectomy-in-a-sample-of-italian-women-from-the-general-population-results-from-a-hypothetical-study-in-the-context-of-brca-mutations
#17
Teresa Gavaruzzi, Alessandra Tasso, Marzena Franiuk, Liliana Varesco, Lorella Lotto
The aim of this study was to assess attitudes toward ovarian cancer risk management options for BRCA mutation carriers in healthy Italian women, and to identify predictors of the preference for risk reducing salpingo-oophorectomy (RRSO) over surveillance. One hundred eighty-one women aged 30-45 completed a questionnaire about preferences, knowledge, risk perception, and socio-demographic information. Participants were randomly presented with a pamphlet about BRCA1 or BRCA2 mutation-specific testing, consequences of testing and preventive options for carriers, and they were stratified by having children or not and by age group...
March 23, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28332077/a-qualitative-study-to-explore-the-views-and-attitudes-towards-prenatal-testing-in-adults-who-have-muenke-syndrome-and-their-partners
#18
Julie Phipps, Heather Skirton
Muenke syndrome constitutes the most common syndromic form of craniosynostosis, occurring in 1 in 30,000 live births. The phenotype is variable, ranging from no clinical findings to complex presentation. Facilitating reproductive decision making for couples at genetic risk of having a child with Muenke syndrome is an important aspect of genetic counselling. Prenatal genetic testing for Muenke syndrome is accurate; however the value of testing is uncertain with a variable phenotype. The purpose of this study was to explore attitudes towards prenatal testing in couples where one partner had tested positive for the Muenke mutation...
March 22, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28315134/reasons-for-declining-preconception-expanded-carrier-screening-using-genome-sequencing
#19
Marian J Gilmore, Jennifer Schneider, James V Davis, Tia L Kauffman, Michael C Leo, Kellene Bergen, Jacob A Reiss, Patricia Himes, Elissa Morris, Carol Young, Carmit McMullen, Benjamin S Wilfond, Katrina A B Goddard
Genomic carrier screening can identify more disease-associated variants than existing carrier screening methodologies, but its utility from patients' perspective is not yet established. A randomized controlled trial for preconception genomic carrier screening provided an opportunity to understand patients' decisions about whether to accept or decline testing. We administered a survey to potential genomic carrier screening recipients who declined participation (N = 240) to evaluate their reasons for doing so...
March 17, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28303452/should-genetic-testing-be-offered-for-children-the-perspectives-of-adolescents-and-emerging-adults-in-families-with-li-fraumeni-syndrome
#20
Melissa A Alderfer, Robert B Lindell, Claire I Viadro, Kristin Zelley, Jessica Valdez, Belinda Mandrell, Carol A Ford, Kim E Nichols
Whether children should be offered genetic testing for cancer risk is much debated but young voices are rarely heard in these conversations. The current study explored perspectives of genetic testing held by adolescents and emerging adults in families with Li Fraumeni syndrome (LFS). Twelve 12- to 25-year-olds in families with LFS completed qualitative interviews for this study. All believed that testing should be offered for children but many qualified this statement saying parental approval would be needed and testing should be optional...
March 16, 2017: Journal of Genetic Counseling
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