Successful implementation of widespread pharmacogenetic testing discussed this week in The Atlantic

An article this week in The Atlantic presents the story of widespread testing for HLA genotypes in some Southeast Asian countries. Simple pharmacogenetic ID cards are issued to inform physicians of a patient’s risk for developing Stevens-Johnson Syndrome (SJS)/Toxic Epidermal Necrolysis (TEN) hypersensitivity reactions if prescribed carbamazepine, allopurinol, abacavir, and other drugs. Despite a drop in the incidence of SJS as a result of the cards, better integration with electronic medical records is needed if cases are to be eliminated entirely.

This type of translation of pharmacogenetic research to improve patient outcomes is the goal of the PharmacogenomicsResearch Network (PGRN), supported by the NIH since 2000 under the leadership of Dr. Rochelle Long. Specific PGRN groups address questions ranging from basic science to clinical trials and implementation. In 2009, the Clinical Pharmacogenomics Implementation Consortium (CPIC), led by Dr. Mary Relling of St. Jude Children’s Research Hospital and Dr. Teri Klein of PharmGKB, was established to develop guidelines for and to address barriers to implementation of pharmacogenetic research. The CPIC guidelines for testing of HLA variants in relation to carbamazepine (HLA-B*15:02), allopurinol (HLA-B*58:01), and abacavir (HLA-B:57:01) treatment were published in Clinical Pharmacology and Therapeutics. Each guideline summarizes the relationship of specific HLA variants with hypersensitivity reactions to each drug and recommendations of how to alter care in response. All CPIC guidelines are freely available to the public.