Reporting and sharing pharmacogenetic test results across laboratories and in electronic health records (EHRs) is a crucial step in implementing pharmacogenetics into clinical practice. In 2013, the Clinical Pharmacogenetics Implementation Consortium (CPIC) formed a formal working group within CPIC to support the adoption of CPIC guidelines into the EHR with clinical decision support (CDS). This group is led by James Hoffman, Pharm.D. (St. Jude Children’s Research Hospital), Robert Freimuth, Ph.D. (Mayo Clinic), and Michelle Whirl-Carrillo, Ph.D. (PharmGKB). This group’s primary focus was to create comprehensive tables and other guidance to translate genotype information to phenotype to clinical recommendations for CPIC guidelines, using human readable and structured text with formal knowledge representation and to develop recommendations for CDS in EHRs based on CPIC guidelines. To date, these resources have been added to eight new and updated CPIC guidelines and will be incorporated into all CPIC guidelines moving forward.
Recently, the CPIC Informatics working group led the CPIC term standardization project. Terms used to describe pharmacogene allele functions and clinical phenotypes have not to date been standardized across laboratory reports or across CPIC guidelines. To maximize utility of pharmacogenetic test results and to fully implement CPIC guidelines, it is desirable to standardize these terms. To achieve as much harmonization as possible, particularly for purposes of clinical reporting, CPIC developed consensus across pharmacogenetics experts and clinicians to determine the best terms to use for CPIC level A and level B pharmacogenes. Where possible, the goal was to agree upon uniform terms that can apply to more than one pharmacogene for terms used to characterize 1) allele functional status and 2) presumed phenotype (generally based on diplotypes). CPIC used a modified Delphi method, which is a structured approach to determine consensus through iterative surveys of an expert panel. Survey participants represented a wide range of genetic and professional organizations. After five surveys of pharmacogenetic experts, consensus was reached. A full description, including results, can be found at https://cpicpgx.org/resources/. While these standardized terms will be incorporated into all new CPIC guidelines and updates, we expect these terms to have broad uptake in the clinic as they are adopted by other organizations (e.g. clinical laboratories, LOINC, IOM’s DIGITizE, Association for Molecular Pathology, etc).