Abstract 1806: Notifiable Genetic Variants on Commercially Available SNP Arrays: Implications for Research Participants in Genome-wide Association Studies for Cardiovascular Disease

In recent years, genome-wide association studies (GWAS) for cardiovascular disease (CVD) have been conducted with increasing sample sizes using dense arrays of single nucleotide polymorphisms (SNPs). While criteria exist for determining if incidental genetic findings should be reported back to research participants, a comprehensive survey of the extent of potentially notifiable variants on genotyping arrays now widely applied in GWAS and in direct to consumer genetic tests has not been reported. We hypothesized that while genotyping arrays are generally designed to measure common variants with modest clinical impact a comprehensive survey might reveal some lower frequency genetic variants with more substantial clinical impact that could warrant participant notification regarding genotype status. Using bioinformatics techniques and multiple public genome databases, we surveyed 18 commercial SNP arrays and HapMap, searching for variants tested for genetic disorders in ≥ 2 CLIA-approved US labs within the Ge...