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, Jennifer A Lee³, Phillip Medrano¹, Becky Milewski¹, Felipe Mullen¹, Andrew Walker¹, Adriana Huertez-Vasquez¹, Mauro Longoni¹, 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 92122.

²GenomOncology, Cleveland, OH 44113.

³Greenwood Genetic Center, Greenwood, SC 29646.

⁴Baylor College of Medicine, Houston, TX 77030.

⁵Henry Ford Health, Detroit, MI 48322.

PubMed PMC DOI PDF

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 o…

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