What Are Polygenic Scores and Why Are They Important?

This Genomics and Precision Health article explains the use and interpretation of polygenic risk scores for determining disease risk and emphasizes the gap between widespread availability of direct-to-consumer (DTC) genetic testing and the near absence of evidence validating the scores in clinical p...

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Bibliographic Details
Published inJAMA : the journal of the American Medical Association Vol. 321; no. 18; pp. 1820 - 1821
Main Authors Sugrue, Leo P, Desikan, Rahul S
Format Journal Article
LanguageEnglish
Published United States American Medical Association 14.05.2019
Subjects
Clinical outcomes
Genetic screening
Genetic testing
Genomics
Health risk assessment
Health risks
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Summary:This Genomics and Precision Health article explains the use and interpretation of polygenic risk scores for determining disease risk and emphasizes the gap between widespread availability of direct-to-consumer (DTC) genetic testing and the near absence of evidence validating the scores in clinical populations and demonstrating associations with the ability to improve clinical outcomes via interventions.
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ISSN:0098-7484
1538-3598
DOI:10.1001/jama.2019.3893