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Overview and Update of Population Genetic Screening of Actionable Genes in the United States

Miikeda, Aika (2022) Overview and Update of Population Genetic Screening of Actionable Genes in the United States. Master Essay, University of Pittsburgh.

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Background: With the advancement in the knowledge of genetics and the emergence of evidence-based recommendations, genomic/genetic screening of adult-onset genetic conditions in healthy adults has gained attention in the past decade. Population genetic screening provides the opportunity to identify high-risk individuals within the general population regardless of medical indications. To date, no central database exists for population genetic screening programs. Research programs offer screening for actionable genetic conditions by referencing some guides provided by professional organizations, which were not intended for population screening application. This study aims to identify existing programs and create a patient-friendly educational resource about the existing programs that are actively enrolling participants.
Methods: The list of programs was first obtained using Foss et al. (2022), followed by a review of CDC’s State Public Health Genomics Program Map and online searches of each state. The website was created on Wix, a cloud-based development platform. The Flesch–Kincaid readability test was used to assess website readability.
Results: In addition to the All of Us Research Program, the study identified a total of 17 population genetic screening programs in the United States. Many programs are clustered either in the western states or the eastern states, leaving a gap in the middle and northern west states. This was also true for the enrollment sites for the All of Us Program. The website, a patient-friendly educational resource, included overviews of genetics, population genetic screening, common population screening conditions, and existing population genetic screening programs. The website scored 8.2nd-grade reading level.
Conclusion: This study is one of the first efforts in identifying a comprehensive list of population genetic screening programs across the United States. The educational resource developed provides novel information to the public, which will continue to grow in importance as more opportunities for the public to participate in population genetic screening programs become available.
Public Health Significance: This study contributes to public health by addressing one of the 10 essential services of public health: linking people to appropriate health services. Creating a patient-friendly tool that helps identify the programs can help initiate patients to participate in population screening programs.


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Item Type: Other Thesis, Dissertation, or Long Paper (Master Essay)
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Miikeda, Aikaaim33@pitt.eduaim33
ContributionContributors NameEmailPitt UsernameORCID
Committee ChairDurst, Andreaadurst@pitt.eduadurstUNSPECIFIED
Committee MemberYurkovich, Bethdudleyre@upmc.eduUNSPECIFIEDUNSPECIFIED
Committee MemberBrand, Randallbrandre@upmc.eduUNSPECIFIEDUNSPECIFIED
Committee MemberDomsic, Robynrtd4@pitt.edurtd4UNSPECIFIED
Date: 1 July 2022
Date Type: Completion
Number of Pages: 55
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MPH - Master of Public Health
Thesis Type: Master Essay
Refereed: Yes
Uncontrolled Keywords: Population genetic screening programs Actionable genes
Date Deposited: 01 Jul 2022 18:59
Last Modified: 01 Jul 2022 18:59


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