Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review
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Shen, Emily C, et al. Barriers and Facilitators for Population Genetic Screening In Healthy Populations: A Systematic Review. 2022. https://doi.org/10.17615/2jjc-rq30APA
Shen, E., Srinivasan, S., Passero, L., Allen, C., Dixon, M., Foss, K., Halliburton, B., Milko, L., Smit, A., Carlson, R., & Roberts, M. (2022). Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review. https://doi.org/10.17615/2jjc-rq30Chicago
Shen, Emily C., Swetha Srinivasan, Lauren E Passero, Caitlin G Allen, Madison Dixon, Kimberly Foss, Brianna Halliburton et al. 2022. Barriers and Facilitators for Population Genetic Screening In Healthy Populations: A Systematic Review. https://doi.org/10.17615/2jjc-rq30- Creator
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Shen, Emily C.
- Affiliation: N.C. Cancer Hospital, UNC Lineberger Comprehensive Cancer Center
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Srinivasan, Swetha
- Affiliation: Eshelman School of Pharmacy
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Passero, Lauren E.
- Affiliation: Eshelman School of Pharmacy
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Allen, Caitlin G.
- Other Affiliation: Medical University of South Carolina
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Dixon, Madison
- Other Affiliation: Emory University
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Foss, Kimberly
- Affiliation: School of Medicine, Department of Genetics
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Halliburton, Brianna
- Affiliation: College of Arts and Sciences
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Milko, Laura V.
- Affiliation: School of Medicine, Department of Genetics
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Smit, Amelia K.
- Other Affiliation: University of Sydney
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Carlson, Rebecca
- Affiliation: University of North Carolina at Chapel Hill. Health Sciences Library
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Roberts, Megan C.
- Affiliation: Eshelman School of Pharmacy
- Abstract
- Studies suggest that 1–3% of the general population in the United States unknowingly carry a genetic risk factor for a common hereditary disease. Population genetic screening is the process of offering otherwise healthy patients in the general population testing for genomic variants that predispose them to diseases that are clinically actionable, meaning that they can be prevented or mitigated if they are detected early. Population genetic screening may significantly reduce morbidity and mortality from these diseases by informing risk-specific prevention or treatment strategies and facilitating appropriate participation in early detection. To better understand current barriers, facilitators, perceptions, and outcomes related to the implementation of population genetic screening, we conducted a systematic review and searched PubMed, Embase, and Scopus for articles published from date of database inception to May 2020. We included articles that 1) detailed the perspectives of participants in population genetic screening programs and 2) described the barriers, facilitators, perceptions, and outcomes related to population genetic screening programs among patients, healthcare providers, and the public. We excluded articles that 1) focused on direct-to-consumer or risk-based genetic testing and 2) were published before January 2000. Thirty articles met these criteria. Barriers and facilitators to population genetic screening were organized by the Social Ecological Model and further categorized by themes. We found that research in population genetic screening has focused on stakeholder attitudes with all included studies designed to elucidate individuals’ perceptions. Additionally, inadequate knowledge and perceived limited clinical utility presented a barrier for healthcare provider uptake. There were very few studies that conducted long-term follow-up and evaluation of population genetic screening. Our findings suggest that these and other factors, such as prescreen counseling and education, may play a role in the adoption and implementation of population genetic screening. Future studies to investigate macro-level determinants, strategies to increase provider buy-in and knowledge, delivery models for prescreen counseling, and long-term outcomes of population genetic screening are needed for the effective design and implementation of such programs.Systematic Review Registration: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42020198198
- Date of publication
- 2022
- Keyword
- DOI
- Identifier
- Resource type
- Article
- Rights statement
- In Copyright
- License
- Attribution 4.0 International
- Journal title
- Frontiers in Genetics
- Journal volume
- 13
- Language
- English
- Version
- Publisher
- ISSN
- 1664-8021
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