Read by QxMD icon Read

Journal of Genetic Counseling

Heather Mae Rocha, Juliann M Savatt, Erin Rooney Riggs, Jennifer K Wagner, W Andrew Faucett, Christa Lese Martin
Patients with newly-described or rare genetic findings are turning to social media to find and connect with others. Blogs, Facebook groups, and Twitter have all been reported as tools for patients to connect with one another. However, the preferences for social media use and privacy among patients, their families, and these communities have not been well characterized. To explore preferences about privacy and membership guidelines, an online survey was administered to two web-based patient registries, Simons Variation in Individuals Project ( www...
November 13, 2017: Journal of Genetic Counseling
Hailey Campbell, Rani H Singh, Eric Hall, Nadia Ali
Tyrosinemia type I (HT1) is an inborn error of metabolism (IEM). Current management guidelines include lifelong specialized diet and use of the orphan drug, nitisinone. This study explores the quality of life (QOL) of caregivers of children with HT1. Caregivers for 26 children with HT1 completed a questionnaire (TYR-QOL) adapted to this patient population from an existing validated QOL questionnaire (PKU-QOL). Responses were analyzed via domain scores, based on predetermined scoring guidelines. Results suggest HT1 has a moderate overall impact on caregiver QOL, with emotional aspects of the disease having the greatest impact...
November 6, 2017: Journal of Genetic Counseling
Sandi Dheensa, Anneke Lucassen, Angela Fenwick
European genetic testing guidelines recommend that healthcare professionals (HCPs) discuss the familial implications of any test with a patient and offer written material to help them share the information with family members. Giving patients these "family letters" to alert any relatives of their risk has become part of standard practice and has gone relatively unquestioned over the years. Communication with at-risk relatives will become an increasingly pressing issue as mainstream and routine practice incorporates broad genome tests and as the number of findings potentially relevant to relatives increases...
November 1, 2017: Journal of Genetic Counseling
Benjamin M Helm, Samantha L Freeze, Katherine G Spoonamore, Stephanie M Ware, Mark D Ayers, Adam C Kean
There are minimal data on the impact of genetic counselors in subspecialty clinics, including the pediatric arrhythmia clinic. This study aimed to describe the clinical encounters of a genetic counselor integrated into a pediatric arrhythmia clinic. In the 20 months between July 2015 and February 2017, a total of 1914 scheduled patients were screened for indications relevant for assessment by a genetic counselor. Of these, the genetic counselor completed 276 patient encounters, seeing 14.4% of all patients in clinic...
October 27, 2017: Journal of Genetic Counseling
Stephanie E Wallace, Sara Gilvary, Michael J Smith, Siobhan M Dolan
Families that choose to continue a pregnancy with a prenatal diagnosis of Trisomy 13/18 are a minority that present unique challenges for those in charge of their care. This study investigated the extent to which these patients felt supported by their healthcare providers, and any differences in the perceived level of support experienced by those working with a physician versus those working with a genetic counselor. Two online support groups, SOFT and Hope for Trisomy, distributed an online survey to their members...
October 27, 2017: Journal of Genetic Counseling
(no author information available yet)
This document is the revised Code of Ethics of the National Society of Genetic Counselors (NSGC) that was adopted in April 2017 after majority vote of the full membership of the NSGC. The explication of the revisions is published in this volume of the Journal of Genetic Counseling. This is the fourth revision to the Code of Ethics since its original adoption in 1992.
October 27, 2017: Journal of Genetic Counseling
Leigha Senter, Robin L Bennett, Anne C Madeo, Sarah Noblin, Kelly E Ormond, Kami Wolfe Schneider, Kelli Swan, Alice Virani
The Code of Ethics (COE) of the National Society of Genetic Counselors (NSGC) was adopted in 1992 and was later revised and adopted in 2006. In 2016, the NSGC Code of Ethics Review Task Force (COERTF) was convened to review the COE. The COERTF reviewed ethical codes written by other professional organizations and suggested changes that would better reflect the current and evolving nature of the genetic counseling profession. The COERTF received input from the society's legal counsel, Board of Directors, and members-at-large...
October 27, 2017: Journal of Genetic Counseling
Sarah Long, Peter O'Leary, Roanna Lobo, Jan E Dickinson
In order to explore the impact of potential new technologies in the area of prenatal screening, we conducted a baseline study using qualitative interviews to explore women's attitudes and knowledge regarding current and future prenatal screening technology and methods. Three cohorts were interviewed, including healthy women without children, healthy women with healthy children, and healthy women with children who have de novo genetic disorders. This study aimed to assess the baseline understanding and attitudes of women in Western Australia...
October 24, 2017: Journal of Genetic Counseling
Jennifer M Hoskovec, R L Bennett, M E Carey, J E DaVanzo, M Dougherty, S E Hahn, B S LeRoy, S O'Neal, J G Richardson, C A Wicklund
As of May 2017, there were 4242 Certified Genetic Counselors (CGC) (American Board of Genetic Counseling, Inc. 2017) and 41 graduate-level genetic counseling training programs (Accreditation Council for Genetic Counseling 2017) in North America, and the demand for CGCs continues to increase. In the Fall of 2015 the Genetic Counselor Workforce Working Group, comprised of representatives from the American Board of Genetic Counseling (ABGC), the Accreditation Council for Genetic Counseling (ACGC), the Association of Genetic Counseling Program Directors (AGCPD), the American Society of Human Genetics (ASHG), and the National Society of Genetic Counselors (NSGC) commissioned a formal workforce study to project supply of and demand for CGCs through 2026...
October 20, 2017: Journal of Genetic Counseling
Emily VandenBoom, Angela M Trepanier, Erin P Carmany
Providing patients with post-visit written communication (PVWC) is a long-standing component of genetic counseling. However the depiction of this practice in today's clinical landscape is limited. To better describe this practice, we surveyed practicing clinical genetic counselors to ask if they send post-visit communications to patients and if so, what are the types, the average length, and the average time spent writing. They were also asked the perceived purpose of providing PVWC, if/how the practice has changed over time, and factors influencing the practice...
October 12, 2017: Journal of Genetic Counseling
Deborah Cragun, Heather Zierhut
Conceptual frameworks bring together existing theories and models in order to identify, consolidate, and fill in gaps between theory, practice, and evidence. Given the vast number of possible outcomes that could be studied in genetic counseling, a framework for organizing outcomes and postulating relationships between communication services and genetic counseling outcomes was sought. Through an iterative approach involving literature review, thematic analysis, and consolidation, outcomes and processes were categorized to create and define components of a conceptual framework...
October 12, 2017: Journal of Genetic Counseling
Kim C A Holtkamp, Phillis Lakeman, Hind Hader, Suze M J P Jans, Maria Hoenderdos, Henna A M Playfair, Martina C Cornel, Marjolein Peters, Lidewij Henneman
Carrier screening for hemoglobinopathies (HbPs; sickle cell disease and thalassemia) aims to facilitate autonomous reproductive decision-making. In the absence of a Dutch national HbP carrier screening program, some primary care midwives offer screening on an ad hoc basis. This qualitative descriptive study explores how pregnant women perceive an offer of HbP carrier screening by their midwife. Semi-structured interviews (n = 26) were conducted with pregnant women at risk of being a HbP carrier, and whom were offered screening at their booking appointment in one of two midwifery practices in Amsterdam...
October 5, 2017: Journal of Genetic Counseling
Marci M Lesperance, Erin Winkler, Tori L Melendez, Beverly M Yashar
The aim of this study was to obtain patient and parent perspectives on genetic evaluation of hearing loss, in order to identify motivators, expectations, and barriers. Three focus groups were conducted following a semi-structured discussion guide, led by an independent moderator. Participants were hearing parents of children with permanent hearing loss or deaf adults. Qualitative content analysis was used to develop a codebook and identify major themes and subthemes. Participant views were compared to national guidelines...
October 4, 2017: Journal of Genetic Counseling
Maureen Mulhern, Louise Bier, Roy N Alcalay, Manisha Balwani
Gaucher disease (GD) is an autosomal recessive disease caused by GBA mutations that is especially common in the Ashkenazi Jewish (AJ) population. The link between GBA mutations and Parkinson disease (PD), a later-onset neurodegenerative condition, is well established, and studies have shown that GBA carriers have an increased lifetime risk of developing PD. Carrier screening for GD is frequently offered to couples during or prior to pregnancy, especially to those of AJ descent. However, no studies have been performed to assess if prospective parents would want to learn about their risk of developing PD incidentally through carrier screening...
September 30, 2017: Journal of Genetic Counseling
(no author information available yet)
No abstract text is available yet for this article.
September 27, 2017: Journal of Genetic Counseling
Caroline E Ghiossi, James D Goldberg, Imran S Haque, Gabriel A Lazarin, Kenny K Wong
Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to determine reproductive risk. Data on the clinical utility of screening conditions beyond professional guidelines are scarce. Individuals underwent ECS for up to 110 genes. Five-hundred thirty-seven at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to participate in a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results. Sixty-four eligible ARC completed the survey...
September 27, 2017: Journal of Genetic Counseling
Rachel N A Graziani, Laurie Nemzer, Jennifer Kerns
Prenatal genetic counselors are health care professionals who counsel women making reproductive decisions which include decisions such as terminating pregnancies due to fetal anomalies. Little is known about the experiences and practices of prenatal genetic counselors working with women who have the option of termination after 24 weeks gestation. In this national survey of 168 genetic counselors who have practiced prenatal genetic counseling, we asked about their general practice patterns, including indications for which termination is offered and types of abortion care services that are coordinated by genetic counselors...
September 27, 2017: Journal of Genetic Counseling
S J Quigley, B Linnane, S Connellan, A Ward, P Ryan
Significant gaps have been identified in parental understanding of CF newborn screening and the consequences of carrying an altered CF gene. Seven potential causes of psychosocial adversity arising from false positive newborn screening for CF have been identified. The current study aimed to increase parents understanding of CF, reduce their levels of stress, and investigate psychosocial adversity arising from false-positive screening. This national study was run over one year in the Republic of Ireland. Parents were recruited for the study following a diagnostic sweat test confirming their child carried a single altered CF gene...
September 26, 2017: Journal of Genetic Counseling
Yue Guan, Kristin A Maloney, Debra L Roter, Toni I Pollin
The purpose of this study was to assess the informational content, readability, suitability and comprehensibility of websites offering educational information about monogenic diabetes available to patients. The top 20 results from 15 queries in four search engines were screened. Content analysis was performed by two independent coders. Readability was determined using Flesch-Kincaid grade level (FKGL) and Simplified Measure of Goobledygook (SMOG). The Comprehensibility Assessment of Materials (SAM + CAM) scale was utilized to evaluate website suitability and comprehensibility...
September 26, 2017: Journal of Genetic Counseling
Patricia Muñoz-Cabello, Sixto García-Miñaúr, Manuel Eliecer Espinel-Vallejo, Lorenzo Fernández-Franco, Alexandra Stephens, Fernando Santos-Simarro, Pablo Lapunzina-Badía, Marion McAllister
The aim in this study was to translate and cross-culturally adapt the Genetic Counseling Outcome Scale (GCOS-24) for use in Spain and to carry out a preliminary psychometric validation in a sample of Spanish patients. With oversight by an expert panel, forward and backward translations were conducted to create the draft Spanish GCOS-24. Fourteen patients were recruited from a clinical genetics service in Madrid, Spain, to participate in cognitive interviews designed to explore readability and interpretability of the draft...
September 25, 2017: Journal of Genetic Counseling
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"