eP518: Development and validation of the Vanderbilt PRS-KS, an instrument to quantify polygenic risk score knowledge

Genetics in Medicine(2022)

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摘要
A polygenic risk score (PRS) enables quantifying genetic risk by aggregating across a large number of genetic variants in an individual. PRSs can stratify individuals' disease risk in combination with traditional risk factors (ie, family history and ancestry) or as a potential standalone risk assessment when monogenic and traditional risk factors are insufficient or poorly understood. Over the past three years, PRSs have increasingly entered the clinical conversation due to direct-to-consumer testing and genetic testing companies marketing PRSs as clinical genetic tests; however, there currently is no tool to quantify understanding of PRSs.
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关键词
Polygenic risk score,Genetic knowledge,Genomic risk score,Knowledge scale,Scale validation
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