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Journal of Genetic Counseling

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https://www.readbyqxmd.com/read/28432537/erratum-to-information-mismatch-cancer-risk-counseling-with-diverse-underserved-patients
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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/28357779/a-comprehensive-review-of-pediatric-tumors-and-associated-cancer-predisposition-syndromes
#7
REVIEW
Sarah Scollon, Amanda Knoth Anglin, Martha Thomas, Joyce T Turner, Kami Wolfe Schneider
An understanding of the role of inherited cancer predisposition syndromes in pediatric tumor diagnoses continues to develop as more information is learned through the application of genomic technology. Identifying patients and their relatives at an increased risk for developing cancer is an important step in the care of this patient population. The purpose of this review is to highlight various tumor types that arise in the pediatric population and the cancer predisposition syndromes associated with those tumors...
March 29, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28357778/impact-of-panel-gene-testing-for-hereditary-breast-and-ovarian-cancer-on-patients
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/28289854/seekers-finders-settlers-and-stumblers-identifying-the-career-paths-of-males-in-the-genetic-counseling-profession
#16
Anthony Chen, Pat McCarthy Veach, Cheri Schoonveld, Heather Zierhut
Genetic counseling is a female-dominated profession, with 96% of counselors self-identifying as female. Research suggests gender diversification benefits healthcare professionals and the populations they serve. Therefore, this study explored how men choose a genetic counseling career, associations between career satisfaction and their career entry dynamics and experience levels, and differences due to experience level in how they decide on this profession. Twenty-five novice, experienced, or seasoned male counselors and 8 male genetic counseling students participated in semi-structured phone interviews...
March 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28289853/information-mismatch-cancer-risk-counseling-with-diverse-underserved-patients
#17
Galen Joseph, Rena J Pasick, Dean Schillinger, Judith Luce, Claudia Guerra, Janice Ka Yan Cheng
As genetics and genomics become part of mainstream Medicine, these advances have the potential to reduce or exacerbate health disparities. Gaps in effective communication (where all parties share the same meaning) are widely recognized as a major contributor to health disparities. The purpose of this study was to examine GC-patient communication in real time, to assess its effectiveness from the patient perspective, and then to pilot intervention strategies to improve the communication. We observed 64 English-, 35 Spanish- and 25 Chinese-speaking (n = 124) public hospital patients and 10 GCs in 170 GC appointments, and interviewed 49 patients who were offered testing using the audio recordings to stimulate recall and probe specific aspects of the communication...
March 13, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28283918/at-the-heart-of-the-pregnancy-what-prenatal-and-cardiovascular-genetic-counselors-need-to-know-about-maternal-heart-disease
#18
REVIEW
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
In the last decade, an increasing number of cardiac conditions have been shown to have a genetic basis. Cardiovascular genetic counseling has emerged as a subspecialty aiming to identify unaffected at-risk individuals. An important sector of this at-risk population also includes expectant mothers, in whom unique clinical challenges may arise. Genetic counselors, especially those in cardiovascular and prenatal settings, have an opportunity to identify and assist women who may benefit from cardiovascular care during pregnancy...
March 10, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28283917/risk-perception-and-psychological-distress-in-genetic-counselling-for-hereditary-breast-and-or-ovarian-cancer
#19
G Cicero, R De Luca, P Dorangricchia, G Lo Coco, C Guarnaccia, D Fanale, V Calò, A Russo
Oncological Genetic Counselling (CGO) allows the identification of a genetic component that increases the risk of developing a cancer. Individuals' psychological reactions are influenced by both the content of the received information and the subjective perception of their own risk of becoming ill or being a carrier of a genetic mutation. This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer. The aim of the study was to examine the relation between their cancer risk perception and the genetic risk during CGO before receiving genetic test results, considering the influence of some psychological variables, in particular distress, anxiety and depression...
March 10, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28281044/using-patient-reported-outcome-measures-for-quality-improvement-in-clinical-genetics-an-exploratory-study
#20
A Costal Tirado, A M McDermott, C Thomas, D Ferrick, J Harris, A Edwards, Marion McAllister
International advocacy of patient-centred healthcare delivery has led to emphasis on the (re)design and evaluation of healthcare processes and outcomes from a patient perspective. Patient-reported outcome measures (PROMs) have significant potential to inform such attempts. However there is limited understanding of the processes by which this can be achieved. This exploratory study followed attempts to utilise two different PROMs measures to support service quality improvement in clinical genetics. PROMs used were the Genetic Counseling Outcome Scale (GCOS-24), a well-validated clinical genetics-specific PROM and Euroqol (EQ-5D), a generic PROM favoured by the UK National Institute for Health and Excellence (NICE)...
March 9, 2017: Journal of Genetic Counseling
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