Development of a comprehensive cardiovascular disease genetic risk assessment test.

ABSTRACT:

Purpose

Despite monogenic and polygenic contributions to cardiovascular disease (CVD), genetic testing is not widely adopted, and current tests are limited by the breadth of surveyed conditions and variant interpretation burden. To address these limitations, a comprehensive clinical genome CVD test with semiautomated interpretation was developed.

Methods

Monogenic conditions and risk alleles were selected based on the strength of disease association and evidence for increased disease risk, respectively. Non-CVD secondary findings genes, pharmacogenomic (PGx) variants, and CVD-associated polygenic risk scores (PRS) were also assessed for inclusion. Test performance was modeled using 2594 genomes from the 1000 Genomes Project and further investigated in 20 previously tested in

SUBMITTER: Amendola LM 

PROVIDER: S-EPMC12810569 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature