Journal article
Patients' reactions and follow-up testing decisions related to Tay-Sachs (HEXA) variants of uncertain significance results
Journal of genetic counseling, v 28(4), pp 738-749
Aug 2019
PMID: 30843643
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
JScreen is a national public health initiative based out of Emory University that provides reproductive carrier screening through an online portal and follow-up genetic counseling services. In 2014, JScreen began reporting to patients variants of uncertain significance (VUSs) in the gene that causes Tay-Sachs disease (HEXA). Genetic counseling was provided to discuss the VUS and patients were offered hexosaminidase A (HEXA) blood enzyme testing to assist with VUS reclassification. To identify patient reactions and factors influencing their follow-up testing decisions after receiving these results, we conducted a retrospective quantitative study by administering online surveys to 62 patients with HEXA VUSs. Participants who pursued enzyme testing and those who did not both experienced low levels of distress when receiving the VUS results. Perceptions of HEXA carrier status after genetic counseling, decisional conflict levels, plans to have children in the near future, time available to pursue enzyme testing, and eligibility for research were significant factors influencing decision-making to pursue or not pursue enzyme testing. Genetic counseling played an important role in helping patients understand the VUS and follow-up testing options. When discussing VUSs with patients, it would be beneficial for genetic counselors to focus on the patient's perception of the VUS, anxiety related to the uncertainty of their results, and follow-up options, when available.
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Details
- Title
- Patients' reactions and follow-up testing decisions related to Tay-Sachs (HEXA) variants of uncertain significance results
- Creators
- Tiffany Yip - Emory UniversityKaren A. Grinzaid - Emory UniversityCecelia Bellcross - Emory UniversityRenee H. Moore - Emory UniversityPatricia Z. Page - University of Alabama at BirminghamMelanie W. Hardy - Emory University
- Publication Details
- Journal of genetic counseling, v 28(4), pp 738-749
- Publisher
- Wiley
- Number of pages
- 12
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Epidemiology and Biostatistics
- Web of Science ID
- WOS:000482136400003
- Scopus ID
- 2-s2.0-85062708837
- Other Identifier
- 991021448184904721
UN Sustainable Development Goals (SDGs)
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InCites Highlights
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Genetics & Heredity
- Health Policy & Services
- Social Sciences, Biomedical