Development of a comprehensive cardiovascular disease genetic risk assessment test.

Laura M Amendola¹, Alison J Coffey¹, Josh Lowry¹, James Avecilla¹, Alka Malhotra¹, Aditi Chawla¹, Stetson Thacker^1,2, Julie P Taylor¹, Revathi Rajkumar¹, Carolyn M Brown¹, Katie Golden-Grant¹, Rueben Hejja¹, Tasha Kalista¹, Jennifer A Lee³, Phillip Medrano¹, Becky Milewski¹, Felipe Mullen¹, Andrew Walker¹, Adriana Huertas-Vazquez¹, Mauro Longoni¹, Keisha Robinson¹, Denise L Perry¹, Damon Hostin¹, Subramanian S Ajay¹, Akanchha Kesari¹, Samuel P Strom¹, Elliott Margulies¹, John Belmont⁴, David E Lanfear⁵, Ryan J Taft¹

¹Illumina Inc, San Diego, CA.

²GenomOncology, Cleveland, OH.

³Greenwood Genetic Center, Greenwood, SC.

⁴Baylor College of Medicine, Houston, TX.

⁵Henry Ford Health, Detroit, MI.

PubMed PMC DOI PDF

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 we…

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