Development of a comprehensive cardiovascular disease genetic risk assessment test.

ABSTRACT:

Background

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 interpretation burden.

Methods

We developed a comprehensive clinical genome CVD test with semi-automated interpretation. 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 polygenic risk scores (PRS) were assessed for inclusion. Test performance was modeled using 2,594 genomes from the 1000 Genomes Project, and further investigated in 20 previously tested individuals.

Results

The CVD genome test is c

SUBMITTER: Amendola LM 

PROVIDER: S-EPMC11100944 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature