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Review
. 2023 Jun;25(6):323-330.
doi: 10.1007/s11883-023-01104-3. Epub 2023 May 24.

Implementing Reporting Standards for Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease

Johanna L Smith  1 , Daniel J Schaid  2 , Iftikhar J Kullo  3   4
Affiliations
Review

Implementing Reporting Standards for Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease

Johanna L Smith et al. Curr Atheroscler Rep. 2023 Jun.

Abstract

Purpose of review: There is considerable interest in using polygenic risk scores (PRSs) for assessing risk of atherosclerotic cardiovascular disease (ASCVD). A barrier to the clinical use of PRSs is heterogeneity in how PRS studies are reported. In this review, we summarize approaches to establish a uniform reporting framework for PRSs for coronary heart disease (CHD), the most common form of ASCVD.

Recent findings: Reporting standards for PRSs need to be contextualized for disease specific applications. In addition to metrics of predictive performance, reporting standards for PRSs for CHD should include how cases/control were ascertained, degree of adjustment for conventional CHD risk factors, portability to diverse genetic ancestry groups and admixed individuals, and quality control measures for clinical deployment. Such a framework will enable PRSs to be optimized and benchmarked for clinical use.

Keywords: Atherosclerosis; Atherosclerotic cardiovascular disease; Coronary heart disease; Polygenic risk score; Reporting standards.

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Conflict of interest statement

Declarations

Conflict of Interest The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
An example of a PRS workflow. Created with BioRender.com
Fig. 2
Fig. 2
Global (A) and local (B) genetic ancestry in a Latino individual. Genetic ancestry population proportions are represented as blue for European, green for African, and red for Native Admixed American. Created with BioRender.com
See this image and copyright information in PMC

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