Since September 2010, more than 10,000 patients have undergone preemptive, panel‐based pharmacogenomic testing through the Vanderbilt Pharmacogenomic Resource for Enhanced Decisions in Care and Treat...

Hidden effects of Mendelian inheritance: Identifying the determinate factors of genetic disease has been quite successful for Mendelian inheritance of large-effect pathogenic variants. In these cases, two non- or low-functioning genes contribute to disease. However, Mendelian effects of lesser strength have generally been ignored when looking at genomic consequences in human health. Bastarache et al. used electronic records to identify the phenotypic effects of previously unidentified Mendelian variations. Their analysis suggests that individuals with undiagnosed Mendelian diseases may be more prevalent in the general population than assumed. Because of this, genetic analysis may be able to assist clinicians in arriving at a diagnosis. Science , this issue p. 1233

Pharmacogenetics is a key component of precision medicine that uses genetic information to guide drug selection and dosing decisions.¹ More than 100 commercially available drugs in the US contain pharmacogenetic information in the US Food and Drug Administration (FDA) label, including therapeutic management recommendations and warnings about the potential effects on drug safety, response, or potential alterations in pharmacokinetic parameters.^2,3 The Clinical Pharmacogenetics Implementation Consortium (CPIC) publishes evidence-based, drug-centric, peer-reviewed guidelines for how to translate genetic test results into actionable prescribing decisions.^4-6 During the last decade, CPIC has published guidelines on more than 35 gene-drug pairs as CPIC level A, indicating that a prescribing action is recommended when genotype information is available and that the preponderance of evidence is high or moderate in favor of changing prescribing.⁷