Clinically relevant pharmacogenomic findings are seen in single nucleotide polymorphism (SNP) genotyping and exome sequencing data, according to a study published in Genetics in Medicine. These findings suggest the need to refine strategies for reporting pharmacogenomics incidental findings as a means to improve patient care and to further personalize treatment. The American College of Medical Genetics and Genomics (ACMG) has focused on disease-associated genes, but pharmacogenetic incidental findings can be clinically actionable and hold potentially significant medical benefit given the possibility of life-threatening adverse drug reactions or therapeutic inefficacy. Pharmacogenetic analysis was performed on a research basis for individuals participating in the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) between 2009 and 2014. SNP chip analysis was performed on 1,101 individuals (from 308 families, including 355 affected individuals), while a subset of these participants underwent exome sequencing (645 individuals, including 182 affected, from 158 families). The Pharmacogenomics Knowledgebase (PharmGKB; 868 pharmacogenetic loci) was used to identify incidental findings based on its listing of variant–drug associations. Combined, the SNP chips and exome sequencing provided coverage of 65 percent of the SNPs in the PharmGKB database and 81 percent of the PharmGKB 1A and 1B SNPs (top two levels of […]