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Journal of Genetic Counseling

S R Williams, K L Berrier, K Redlinger-Grosse, J G Edwards
Utilizing the tenet, "Relationship is integral to the genetic counseling process" from the Reciprocal Engagement Model (REM) of genetic counseling practice, this study sought to explore the relationship between the genetic counselor and patient following a "life-limiting" prenatal diagnosis that resulted in a major loss (termination, stillbirth/miscarriage, or neonatal death). The specific aims of this study were to: 1) Understand and describe aspects of the genetic counselor-patient relationship in the context of the life-limiting prenatal diagnosis, and identify characteristics and actions of the 2) genetic counselor and 3) patient that influence the relationship...
October 22, 2016: Journal of Genetic Counseling
Karin N Wagner, Haikady Nagaraja, Dawn C Allain, Adam Quick, Stephen Kolb, Jennifer Roggenbuck
Although genetic testing for amyotrophic lateral sclerosis (ALS) is widely available, it is unknown what proportion of patients with ALS have access to genetic counseling and testing, and patient attitudes towards ALS genetic testing have not been studied. We conducted a national survey of ALS patients enrolled in the Agency for Toxic Substances and Disease Registry, which consisted of multiple choice questions and two 12 item Likert scale series assessing respondents' experience with and attitude toward genetic testing...
October 20, 2016: Journal of Genetic Counseling
Rowan Forbes Shepherd, Tamara Kayali Browne, Linda Warwick
Ethical issues arise for genetic counselors when a client fails to disclose a genetic diagnosis of hereditary disease to family: they must consider the rights of the individual client to privacy and confidentiality as well as the rights of the family to know their genetic risk. Although considerable work has addressed issues of non-disclosure from the client's perspective, there is a lack of qualitative research into how genetic counselors address this issue in practice. In this study, a qualitative approach was taken to investigate whether genetic counselors in Australia use a relational approach to encourage the disclosure of genetic information from hereditary breast and ovarian cancer (HBOC) clients among family members; and if so, how they use it...
October 19, 2016: Journal of Genetic Counseling
Brittany Harding, Rylan Egan, Peter Kannu, Jennifer J MacKenzie
Parents have the opportunity to educate their children to facilitate behaviours and lifestyle habits that may prevent or delay genetic disease, or mitigate predispositions within the family. We sought to determine parents' understanding of genetic knowledge and heritability. Using a quantitative survey methodology 108 volunteer participants were surveyed from a convenience sample of all parents/caregivers within the waiting room of a general children's outpatient clinic. Results indicated that average genetic knowledge levels were fairly high, with the majority of participants scoring 70-80 % correct on knowledge-based questions...
October 17, 2016: Journal of Genetic Counseling
Mark B Warren, Kathryn M Schak
A diagnosis of Huntington's disease has broad social, vocational, reproductive and psychological implications. The ability to accurately diagnose the illness via genetic testing is not new. However, given a persistent lack of robustly effective interventions, it remains an area of ethical concern. The difficulty is compounded in cases of intellectual disability. This paper presents a case of genetic testing for Huntington's disease conducted on a patient with intellectual disability with guardian consent, but without the patient's direct knowledge and how the family illness narrative and psychiatric care were employed in the eventual disclosure of the patient's diagnosis and subsequent management...
October 15, 2016: Journal of Genetic Counseling
Emma Hitchcock, William T Gibson
Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family...
October 14, 2016: Journal of Genetic Counseling
Krista Redlinger-Grosse
No abstract text is available yet for this article.
October 14, 2016: Journal of Genetic Counseling
Marina J Corines, Jada G Hamilton, Emily Glogowski, Chris A Anrig, Rachael Goldberg, Kate Niehaus, Erin Salo-Mullen, Megan Harlan, Margaret R Sheehan, Magan Trottier, Asad Ahsraf, Christina Tran, Lauren Jacobs, Rohini Rau-Murthy, Anne G Lincoln, Mark E Robson, Jose G Guillem, Arnold J Markowitz, Kenneth Offit, Zsofia K Stadler
Few reports of educational and counseling support resources exist for Lynch syndrome (LS), a disorder requiring multi-organ cancer screening and specialized medical care throughout adult life. Here we describe the development and efficacy of two resources designed to address this need, the Memorial Sloan Kettering Cancer Center Clinical Genetics Service annual Lynch Syndrome Educational Workshop (LSEW), and a quarterly Lynch Syndrome Patient Advocacy Network (LSPAN) support group. The LSEW and LSPAN were implemented beginning in 2012...
October 12, 2016: Journal of Genetic Counseling
(no author information available yet)
No abstract text is available yet for this article.
October 12, 2016: Journal of Genetic Counseling
Ivan Eisler, Frances Flinter, Jo Grey, Suzanne Hutchison, Carole Jackson, Louise Longworth, Rhona MacLeod, Marion McAllister, Alison Metcalfe, Christine Patch, Buddug Cope, Glenn Robert, Emma Rowland, Fiona Ulph
Innovations in clinical genetics have increased diagnosis, treatment and prognosis of inherited genetic conditions (IGCs). This has led to an increased number of families seeking genetic testing and / or genetic counselling and increased the clinical load for genetic counsellors (GCs). Keeping pace with biomedical discoveries, interventions are required to support families to understand, communicate and cope with their Inherited Genetic Condition. The Socio-Psychological Research in Genomics (SPRinG) collaborative have developed a new intervention, based on multi-family discussion groups (MFDGs), to support families affected by IGCs and train GCs in its delivery...
October 10, 2016: Journal of Genetic Counseling
Stephanie A Cohen, Megan E Tucker, Paula Delk
The aims of this study were to document movement of genetic counselors (GCs) out of clinical positions and identify factors that might help employers attract and retain clinical GCs. A confidential on-line survey of GCs ever licensed in the state of Indiana was conducted. Of the 46 respondents, most provide direct patient care (69.6 %), have worked in their current position for 5 years or less (72.1 %), and are experienced genetic counselors, having graduated between 6 and 15 years ago (43.5 %). One-third (32...
October 8, 2016: Journal of Genetic Counseling
Ramona Alfaro Arenas, Jordi Rosell Andreo, Damián Heine Suñer
We report herein results of a study performed in the Balearic Islands which had the following goals: 1) Determine the proportion of pregnant or non-pregnant women planning pregnancy, who would choose to undergo a screening test for Fragile X Syndrome (FXS), if it is accompanied by the appropriate information; 2) Assess satisfaction and any increase in stress among women who participate in screening; 3) Collect epidemiological information about the incidence of the disease in our population; and 4) Collect demographic and health history data and assess participants' awareness of the disease...
October 7, 2016: Journal of Genetic Counseling
Brianne E Kirkpatrick, Misha D Rashkin
Ancestry testing is a home DNA test with many dimensions; in some cases, the implications and outcomes of testing cross over into the health sphere. Common reasons for seeking ancestry testing include determining an estimate of customer's ethnic background, identifying genetic relatives, and securing a raw DNA data file that can be used for other purposes. As the ancestry test marketplace continues to grow, and third-party vendors empower the general public to analyze their own genetic material, the role of the genetic counselor is likely to evolve dramatically...
October 4, 2016: Journal of Genetic Counseling
Andrea Farkas Patenaude, Katherine A Schneider
The defining difference between genetic and traditional medicine is that genetic findings have implications not just for the patient, but also for their relatives. Discussion of a test result between parent and child is both a transformative and a translational moment in the life of a family. Parents report wanting help in talking to their children. The challenge for genetic counselors and other providers is to be able to recognize which issues are at the core of parental distress and be able to offer recommendations to empower and support parents...
October 3, 2016: Journal of Genetic Counseling
Ashley Rhodes, Lindsey Rosman, John Cahill, Jodie Ingles, Brittney Murray, Crystal Tichnell, Cynthia A James, Samuel F Sears
Genetic assessment for inherited cardiovascular disease (CVD) is increasingly available, due in part to rapid innovations in genetic sequencing technologies. While genetic testing is aimed at reducing uncertainty, it also produces awareness of potential medical conditions and can leave patients feeling uncertain about their risk, especially if there are ambiguous results. This uncertainty can produce psychological distress for patients and their families undergoing the assessment process. Additionally, patients may experience psychological distress related to living with inherited CVD...
September 30, 2016: Journal of Genetic Counseling
Bettina Meiser, Michelle Peate, Charlene Levitan, Philip B Mitchell, Lyndal Trevena, Kristine Barlow-Stewart, Timothy Dobbins, Helen Christensen, Kerry A Sherman, Kate Dunlop, Peter R Schofield
We developed and pilot-tested the first online psycho-educational intervention that specifically targets people with a family history of depression ('LINKS'). LINKS provides genetic risk information and evidence-rated information on preventive strategies for depression and incorporates a risk assessment tool and several videos using professional actors. LINKS was pilot-tested in the general practitioner (GP) setting. The patient sample included people with a family history of at least one first-degree relative (FDR) with major depressive disorder (MDD) or bipolar disorder (BD)...
September 29, 2016: Journal of Genetic Counseling
Zahra Moudi, Ebrahim Miri-Moghaddam
In the present study, an embedded design was applied in order to conduct a one-year cross-sectional audit of chorionic villus sampling (CVS) and foetal outcomes affected by β-thalassemia major (β-TM) in a prenatal diagnosis (PND) setting. In addition, we explored the decisions regarding pregnancy termination among women whose pregnancy (or child) was affected by β-TM. In the quantitative phase, the available data in the clients' medical records were analysed, while the qualitative phase was performed using a grounded theory method...
September 28, 2016: Journal of Genetic Counseling
Angela Fenwick, Mirjam Plantinga, Sandi Dheensa, Anneke Lucassen
Healthcare professionals (HCPs) regularly face requests from parents for predictive genetic testing of children for adult-onset conditions. Little is known about how HCPs handle these test requests, given that guidelines recommend such testing is deferred to adulthood unless there is medical benefit to testing before that time. Our study explored the process of decision-making between HCPs and parents. Semi-structured interviews were conducted with 34 HCPs in 8 regional genetic services across the UK, and data were thematically analysed...
September 28, 2016: Journal of Genetic Counseling
H-L Hietaranta-Luoma, H T Luomala, H Puolijoki, A Hopia
No abstract text is available yet for this article.
September 28, 2016: Journal of Genetic Counseling
Katie L Lewis, Lori A H Erby, Amanda L Bergner, E Kate Reed, Maria R Johnson, Jessica Y Adcock, Meredith A Weaver
Supervision is a practice that is utilized by a variety of practitioners to hone their counseling skills. Genetic counselors have embraced the supervision process, and some seek out supervision in a group setting with peers. Researchers have described the structure and content of genetic counseling peer supervision groups, and provided evidence for the benefits of seeking peer supervision. This study aimed to describe the interpersonal aspects of one genetic counseling peer supervision group, including personality traits and group dynamics, and how those factors influenced our experiences within the group...
September 13, 2016: Journal of Genetic Counseling
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