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Journal of Genetic Counseling

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28265802/translation-and-adaptation-of-the-genetic-counselling-outcome-scale-gcos-24-for-use-in-denmark
#9
Birgitte Rode Diness, Gritt Overbeck, Tina Duelund Hjortshøj, Trine Bjørg Hammer, Susanne Timshel, Else Sørensen, Marion McAllister
Outcome measurement in clinical genetics is challenging. Robust outcome measures are needed to provide evidence to support service development within genetic counseling. The Genetic Counselling Outcome Scale (GCOS-24), a Patient Reported Outcome Measure (PROM), was developed in English and validated with clinical genetics patients in the British NHS. This study reports the translation and adaptation of the GCOS-24 for use in Denmark. GCOS-24 was translated and back translated, supervised by an expert committee...
March 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28265801/performing-and-declining-pgd-accounts-of-jewish-israeli-women-who-carry-a-brca1-2-mutation-or-partners-of-male-mutation-carriers
#10
Efrat Dagan, Daphna Birenbaum-Carmeli, Eitan Friedman, Baruch Feldman
To describe factors associated with preimplantation genetic diagnosis (PGD) decisions among Jewish Israeli BRCA1/2 carriers or spouses of a male carrier, we contacted all women who initiated PGD consultation for embryonic BRCA1/2 mutation detection at Sheba Medical Center, prior to March 2014. Applying a qualitative approach, we asked women to elaborate on the factors they considered in either opting for PGD or discontinuing the screening procedure. Participants were 18 Jewish Israeli women; 14 were carriers of one of the Ashkenazi founder mutations in BRCA1/2, and four were spouses of male mutation carriers, who underwent at least one cycle of PGD...
March 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28255928/a-systematic-review-of-randomized-controlled-trials-to-assess-outcomes-of-genetic-counseling
#11
REVIEW
Barbara A Athens, Samantha L Caldwell, Kendall L Umstead, Philip D Connors, Ethan Brenna, Barbara B Biesecker
With the advancements in precision medicine and health care reform, it is critical that genetic counseling practice respond to emerging evidence to maximize client benefit. The objective of this review was to synthesize evidence on outcomes from randomized controlled trials (RCTs) of genetic counseling to inform clinical practice. Seven databases were searched in conducting this review. Studies were selected for inclusion if they were: (a) RCTs published from 1990 to 2015, and (b) assessed a direct outcome of genetic counseling...
March 2, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28251433/attitudes-towards-prenatal-genetic-counseling-prenatal-genetic-testing-and-termination-of-pregnancy-among-southeast-and-east-asian-women-in-the-united-states
#12
Ginger J Tsai, Carrie A Cameron, Jennifer L Czerwinski, Hector Mendez-Figueroa, Susan K Peterson, Sarah Jane Noblin
Recognizing the heterogeneity of the Asian population with regards to acculturation, education, health awareness, and cultural values is vital for tailoring culturally sensitive and appropriate care. Prior studies show that cultural values influence perceptions of genetics within Asian populations. The reputation of the family unit factors into decisions such as pregnancy termination and disclosure of family medical history, and the nondirective model of American genetic counseling may conflict with the historical Asian model of paternalistic health care...
March 2, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28247171/genetic-counseling-dilemmas-for-a-patient-with-sporadic-amyotrophic-lateral-sclerosis-frontotemporal-degeneration-parkinson-s-disease
#13
Vittorio Mantero, Claudia Tarlarini, Angelo Aliprandi, Giuseppe Lauria, Andrea Rigamonti, Lucia Abate, Paola Origone, Paola Mandich, Silvana Penco, Andrea Salmaggi
Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson's disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause...
March 1, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28236280/standards-for-the-reporting-of-genetic-counseling-interventions-in-research-and-other-studies-gcirs-an-nsgc-task-force-report
#14
Gillian W Hooker, D Babu, M F Myers, H Zierhut, M McAllister
As the demand for evidence to support the value of genetic counseling increases, it is critical that reporting of genetic counseling interventions in research and other types of studies (e.g. process improvement or service evaluation studies) adopt greater rigor. As in other areas of healthcare, the appraisal, synthesis, and translation of research findings into genetic counseling practice are likely to be improved if clear specifications of genetic counseling interventions are reported when studies involving genetic counseling are published...
February 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28191608/experiences-of-pre-implantation-genetic-diagnosis-pgd-in-sweden-a-three-year-follow-up-of-men-and-women
#15
Stina Järvholm, Ann Thurin-Kjellberg, Malin Broberg
Men and women with a hereditary genetic disease are faced with different options when they wish to become parents. One is pre-implantation genetic diagnosis (PGD) which is a combination of in vitro fertilization (IVF) and genetic analysis of the embryo before implantation. The present study focused on men and women's psychological experiences of PGD three years after applying for PGD. Nineteen women and seventeen men (i.e. seventeen couples and two women) participated. The interviews were analysed by thematic method...
February 12, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28181058/analysis-of-reimbursement-of-genetic-counseling-services-at-a-single-institution-in-a-state-requiring-licensure
#16
Jennifer R Leonhard, Paul J Munson, Jason D Flanagan, Kristen L De Berg, Paul A Thompson, Lori W Dean, Quinn P Stein
Reimbursement for genetic counseling services was examined at a single institution. Patient encounters utilizing the 96040 CPT® code from 7/31/2009 through 7/31/2013 were reviewed. Exclusion criteria included billing records of patients seen by a physician the same day, self-pay, Medicaid, and Medicare patients. Of the 8,630 encounters with a genetic counselor, 582 encounters were eligible for review. Descriptive statistics (i.e., percentage of encounters receiving some level of reimbursement, average reimbursement rate, number of third party payors providing any level of reimbursement, and number of ICD-9 codes receiving any level of reimbursement) depicted reimbursement of the 96040 CPT® code for the encounters analyzed...
February 8, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28176155/genetic-counseling-for-alcohol-addiction-assessing-perceptions-and-potential-utility-in-individuals-with-lived-experience-and-their-family-members
#17
Fayth M Kalb, Victoria Vincent, Teresa Herzog, Jehannine Austin
Though addictions to substances including alcohol are highly heritable, there have been no studies regarding the possible applicability of genetic counseling to this set of conditions. Adults (≥18 years old) with a personal and/or family history of alcohol addiction were recruited to participate in an online survey-based study comprising 43 questions about beliefs/concern about recurrence risk and etiology of alcohol addiction and its impact on childbearing decisions, and perceptions of potential utility of genetic counseling for alcohol addiction...
February 7, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28168332/a-rapid-systematic-review-of-outcomes-studies-in-genetic-counseling
#18
REVIEW
Lisa Madlensky, Angela M Trepanier, Deborah Cragun, Barbara Lerner, Kristen M Shannon, Heather Zierhut
As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs...
February 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28161759/-they-just-want-to-know-genetic-health-professionals-beliefs-about-why-parents-want-to-know-their-child-s-carrier-status
#19
Danya F Vears, Clare Delany, John Massie, Lynn Gillam
In the context of a child being diagnosed with a genetic condition, reports from both parents and health professionals suggest many genetic health professionals are reluctant to provide carrier testing for unaffected siblings, despite the lack of evidence of harm. We propose that genetic health professionals' understandings of why parents want to have their children tested may contribute to their reluctance to test. We draw on interviews with 17 genetic health professionals, reporting their beliefs about parents' motivations for testing and their intentions to communicate results to their children...
February 4, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28138923/-it-was-an-emotional-baby-previvors-family-planning-decision-making-styles-about-hereditary-breast-and-ovarian-cancer-risk
#20
Marleah Dean, Emily A Rauscher
Women who test positive for a BRCA genetic mutation are at an increased risk for developing hereditary breast and ovarian cancer and have a 50% chance of passing on their genetic mutation to their children. The purpose of this study was to investigate how women who test positive for a BRCA mutation but have not been diagnosed with cancer make decisions regarding family planning. Analysis of interviews with 20 women revealed they engage in logical and emotional decision-making styles. Although women want to be logical to reduce their hereditary cancer risk, emotions often complicate their decision-making...
January 30, 2017: Journal of Genetic Counseling
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