Incidental Pharmacogenomic Findings Can Help Personalize Treatment

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.

SNP chip and exome sequence 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.

The Pharmacogenomics Knowledgebase (PharmGKB; 868 pharmacogenetic loci) was used to identify incidental findings based on its listing of variant–drug associations.

“Despite the small size of the NIH UDP patient cohort, we identified pharmacogenetic incidental findings potentially useful for guiding therapy,” writes co-author Murat Sincan, M.D., from the NIH’s UDP (Bethesda, Md.). “Consequently, groups conducting clinical genomic studies might consider reporting of pharmacogenetic incidental findings.” (The July 2016 issue of Diagnostic Testing & Emerging Technologies provides more details about this study).