In the most recent edition of Nature, Dr. Mary Relling and Dr. William Evans provide a review of pharmacogenomic implementation in the clinic. Within the article, they provide an overview of the history of pharmacogenomics (PGx), and then discuss the current state of diagnostic testing and clinical implementation of PGx. Within these latter two sections, Relling and Evans cover both the progress made and the difficulties that still exist with testing and then implementing PGx associations.
Relling and Evans bring up several interesting points in their review. With the falling cost of whole-genome sequencing, it is possible that in the near future, every individual will have their germline genome sequenced early in life. Relling and Evans suggest that there should therefore be a shift away from debate about whether a patient should be tested for genetic variants, and efforts focused instead on providing clinicians with informative guidelines on how to integrate genetic information into prescribing. They also highlight the fact that 7% of FDA-approved medications are affected by actionable pharmacogenes (as defined by the Clinical Pharmacogenetics Implementation Consortium (CPIC)), but that these drugs make up 18% of prescriptions within the United States; this data provides an incentive to improve clinical implementation of PGx. The authors also note the importance of considering multiple variants across one or more genes when analyzing PGx associations, as well as the growing importance and challenges of rare variants. In addition to these particular points of interest, the article also provides an excellent overview on the barriers to clinical implementation, and the complexity of determining the clinical actionability of gene-drug associations.
Read the article:
Pharmacogenomics in the clinic
Relling MV, Evans WE
Nature. 2015 Oct 15. 526(7573):343-50. doi: 10.1038/nature15817