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Journal of Genetic Counseling

Amy Goldman, Alison Metcalfe, Rhona MacLeod
When a boy is diagnosed with an X-linked condition such as Duchenne or Becker muscular dystrophy (D/BMD), the mother learns not only of her own potential carrier risk but also that of her daughters. Before the daughters are seen in the Genetics Clinic, responsibility for disclosing carrier risk information falls mainly to their mothers. We know little about if when and how these daughters are being told about their risk, and how mothers find the experience. Should we be doing more to help and support them? Using qualitative methods, six mothers known to the Manchester Centre for Genomic Medicine were interviewed about the disclosure of D/BMD carrier risk information to their daughters...
March 19, 2018: Journal of Genetic Counseling
Sarah Caldwell, Katie Wusik, Hua He, Geoffrey Yager, Carrie Atzinger
This study describes the development of a self-efficacy scale that is specific to genetic counseling and based both on Bandura's self-efficacy theory (2006) and the Accreditation Council for Genetic Counseling practice-based competencies (2013). The phase 1 validation compared genetic counseling students (n = 20) and genetic counselors (n = 18). Nine items were removed from the scale at this point for lack of discrimination or redundancy. The phase 2 validation included a larger cohort of genetic counseling students (n = 168)...
March 18, 2018: Journal of Genetic Counseling
Aimée C Dane, Madelyn Peterson, Yvette D Miller
Adequate knowledge is a vital component of informed decision-making; however, we do not know what information women value when making decisions about noninvasive prenatal testing (NIPT). The current study aimed to identify women's information needs for decision-making about NIPT as a first-tier, non-contingent test with out-of-pocket expense and, in turn, inform best practice by specifying the information that should be prioritized when providing pre-test counseling to women in a time-limited scenario or space-limited decision support tool...
March 17, 2018: Journal of Genetic Counseling
Sarah E Chadwell, Hua He, Sara Knapke, Jaime Lewis, Rebecca Sisson, Jennifer Hopper
Genetic testing for inherited cancer risk has recently improved through the advent of multi-gene panels and the addition of deletion and duplication analysis of the BRCA genes. The primary aim of this study was to determine which factors influence the intent of individuals with a personal history of breast and/or ovarian cancer and negative or uncertain BRCA1 and BRCA2 testing to return to a hereditary cancer program for additional genetic risk assessment, counseling, and testing. Surveys were sent to 1197 individuals and 257 were returned...
March 17, 2018: Journal of Genetic Counseling
Kathryn M Reese, Jennifer Czerwinski, Sandra Darilek, Anthony Johnson, Malorie Jones, Claire N Singletary
The rate of twinning is rising and since the introduction of non-invasive prenatal testing, interest in and uptake of genetic screening and testing in twin pregnancies has not been investigated. This study aimed to explore the attitudes toward and uptake of current prenatal genetic screening and diagnostic testing options for fetal aneuploidy in twin pregnancies. Women being seen for genetic counseling with twin gestations were recruited for participation in a descriptive study with questionnaire (n = 42) and semi-structured phone interview (n = 15)...
March 10, 2018: Journal of Genetic Counseling
Karen Wain
The genetic counseling profession continues to expand and respond to the changing landscape of genomic medicine. "Non-traditional" genetic counseling roles have become more commonplace and the transferability of the genetic counselor skill set has been widely acknowledged, particularly in genetic laboratory settings. As these expanding roles continue to mature, all genetic counselors can benefit by learning and adopting clinically relevant skills, such as genomic variant interpretation, which can be applied to direct patient care...
March 10, 2018: Journal of Genetic Counseling
Swetha Narayanan, Bruce Blumberg, Marla L Clayman, Vivian Pan, Catherine Wicklund
Exome sequencing is a clinical diagnostic test offered primarily for children and adults with suspected genetic conditions. The purpose of this study was to explore issues related to exome sequencing in a reproductive clinical setting. This was a qualitative study using semi-structured interviews. Participants were professionals drawn from four key stakeholder groups-healthcare providers, laboratory/industry, ethics, and government. Transcribed interviews were analyzed for emergent themes. Most participants saw potential clinical utility in offering prenatal exome sequencing for diagnostic purposes as opposed to screening...
March 10, 2018: Journal of Genetic Counseling
Nicholas D Wolff, Jon A Wolff
Commercial genetic testing laboratories are increasingly employing genetic counselors. As a result, the role of these or many genetic counselors is shifting from primarily direct patient counseling in clinics and hospitals to more laboratory-centered activities that involve case coordination, customer liaison, variant classification, marketing, and sales. Given the importance of these commercial entities to the genetic counseling profession, this commentary examines the current financial situation of four publicly traded, genetic testing companies...
March 9, 2018: Journal of Genetic Counseling
Jessica Baker, Cheryl Shuman, David Chitayat, Syed Wasim, Nan Okun, Johannes Keunen, Renee Hofstedter, Rachel Silver
The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i...
March 7, 2018: Journal of Genetic Counseling
Brandon M Welch, Kevin Wiley, Lance Pflieger, Rosaline Achiangia, Karen Baker, Chanita Hughes-Halbert, Heath Morrison, Joshua Schiffman, Megan Doerr
Family health history (FHx) is one of the most important pieces of information available to help genetic counselors and other clinicians identify risk and prevent disease. Unfortunately, the collection of FHx from patients is often too time consuming to be done during a clinical visit. Fortunately, there are many electronic FHx tools designed to help patients gather and organize their own FHx information prior to a clinic visit. We conducted a review and analysis of electronic FHx tools to better understand what tools are available, to compare and contrast to each other, to highlight features of various tools, and to provide a foundation for future evaluation and comparisons across FHx tools...
March 6, 2018: Journal of Genetic Counseling
Stephanie A Cohen, Megan E Tucker
A previous study of genetic counselors (GCs) in the state of Indiana identified movement out of clinical positions within the past 2 years. The aims of this study were to determine if this trend is nationwide and identify reasons why GCs are leaving their positions and factors that might help employers attract and retain GCs. An email was sent to members of the American Board of Genetic Counseling with a link to an online confidential survey. There were 939 responses (23.5% response rate). Overall, 52% of GCs report being highly satisfied in their current position, although almost two thirds think about leaving and one third had changed jobs within the past 2 years...
March 5, 2018: Journal of Genetic Counseling
Julia Silver, Colleen Caleshu, Sylvie Casson-Parkin, Kelly Ormond
Genetic counselors experience high rates of compassion fatigue and an elevated risk for burnout, both of which can negatively impact patient care and retention in the profession. In other healthcare professions, mindfulness training has been successfully used to address similar negative psychological sequelae and to bolster empathy, which is the foundation of our counseling work. We aimed to assess associations between mindfulness and key professional variables, including burnout, compassion fatigue, work engagement, and empathy...
March 4, 2018: Journal of Genetic Counseling
Shiri Shkedi-Rafid, Yael Hashiloni-Dolev
Advanced genomic tests in pregnancy, such as chromosomal microarray analysis (CMA), provide higher detection rates yet often produce probabilistic and uncertain information. This study aimed to understand how the most knowledgeable patients, i.e., pregnant genetic counselors, act in their own pregnancies, thereby gaining insight into the impact of patients' knowledge on the diagnostic process. Seventeen interviews were conducted with Israeli genetic counselors, either pregnant or up to 2 years post-pregnancy...
March 3, 2018: Journal of Genetic Counseling
Kristin A Maloney, Dina S Alaeddin, Rainer von Coelln, Shannan Dixon, Lisa M Shulman, Katrina Schrader, Yue Guan
The objective of this study was to assess the genetics knowledge of patients with Parkinson's disease (PD), and to explore their attitudes on genetic testing and interest in genetic counseling. We surveyed 158 patients from the University of Maryland Parkinson's Disease and Movement Disorders Center. Patients averaged a score of 63% on general genetics knowledge and 73% on PD genetics knowledge. Participants had an overall positive attitude toward genetic testing: 80% believed that the use of genetic tests among people should be promoted, and 83% would undertake genetic test for PD if it was available...
March 2, 2018: Journal of Genetic Counseling
Danielle Braun, Jiabei Yang, Molly Griffin, Giovanni Parmigiani, Kevin S Hughes
The rapid drop in the cost of DNA sequencing led to the availability of multi-gene panels, which test 25 or more cancer susceptibility genes for a low cost. Clinicians and genetic counselors need a tool to interpret results, understand risk of various cancers, and advise on a management strategy. This is challenging as there are multiple studies regarding each gene, and it is not possible for clinicians and genetic counselors to be aware of all publications, nor to appreciate the relative accuracy and importance of each...
March 2, 2018: Journal of Genetic Counseling
Vickie Venne, Megan Doerr
No abstract text is available yet for this article.
March 1, 2018: Journal of Genetic Counseling
Christina G S Palmer, Allyn McConkie-Rosell, Ingrid A Holm, Kimberly LeBlanc, Janet S Sinsheimer, Lauren C Briere, Naghmeh Dorrani, Matthew R Herzog, Sharyn Lincoln, Kelly Schoch, Rebecca C Spillmann, Elly Brokamp
The burden of living with an undiagnosed condition is high and includes physical and emotional suffering, frustrations, and uncertainty. For patients and families experiencing these stressors, higher levels of empowerment may be associated with better outcomes. Thus, it is important to understand the experiences of patients with undiagnosed conditions and their families affected by undiagnosed conditions in order to identify strategies for fostering empowerment. In this study, we used the Genetic Counseling Outcome Scale (GCOS-24) to assess levels of empowerment and support group participation in 35 adult participants and 67 parents of child participants in the Undiagnosed Diseases Network (UDN) prior to their UDN in-person evaluation...
March 1, 2018: Journal of Genetic Counseling
Laura M Amendola, Jill O Robinson, Ragan Hart, Sawona Biswas, Kaitlyn Lee, Barbara A Bernhardt, Kelly East, Marian J Gilmore, Tia L Kauffman, Katie L Lewis, Myra Roche, Sarah Scollon, Julia Wynn, Carrie Blout
Clinical and research settings are increasingly incorporating genomic sequencing (GS) technologies. Previous research has explored reasons for declining genetic testing and participation in genetic studies; however, there is a dearth of literature regarding why potential participants decline participation in GS research, and if any of these reasons are unique to GS. This knowledge is essential to promote informed decision-making and identify potential barriers to research participation and clinical implementation...
March 1, 2018: Journal of Genetic Counseling
Lisa L Shah, Sandra Daack-Hirsch
Screening for hereditary cardiomyopathies and arrhythmias (HCA) may enable early detection, treatment, targeted surveillance, and result in effective prevention of debilitating complications and sudden cardiac death. Screening at-risk family members for HCA is conducted through cascade screening. Only half of at-risk family members are screened for HCA. To participate in screening, at-risk family members must be aware of their risk. This often relies on communication from diagnosed individuals to their relatives...
February 28, 2018: Journal of Genetic Counseling
Lauren Propst, Gwendolyn Connor, Megan Hinton, Tabitha Poorvu, Jeffrey Dungan
Expanded carrier screening (ECS) is a relatively new carrier screening option that assesses many conditions simultaneously, as opposed to traditional ethnicity-based carrier screening for a limited number of conditions. This study aimed to explore pregnant women's perspectives on ECS, including reasons for electing or declining and anxiety associated with this decision-making. A total of 80 pregnant women were surveyed from Northwestern Medicine's Clinical Genetics Division after presenting for aneuploidy screening...
February 23, 2018: Journal of Genetic Counseling
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