Standardized allele function and phenotype terms for clinical pharmacogenetic test results

In December 2014 and February 2015, we blogged about the CPIC term standardization project. CPIC (Clinical Pharmacogenetics Implementation Consortium) just published the results of this project in Genetics in Medicine.

Consensus terms for allele function and phenotype were determined by starting with a broad list of terms currently used by genetic testing laboratories and in the literature followed by a modified Delphi method surveying experts in the pharmacogenomics field. Ninety percent of the participants agreed on the final sets of pharmacogenetic terms.

Defining this standard vocabulary is an important step forward to reduce confusion across clinicians, laboratories, and patients.  Electronic health records with clinical decision support are essential for the implementation of pharmacogenetics, and wide use of these terms will facilitate sharing pharmacogenetic data across diverse electronic health record systems.

The terminology will be used in new and updated CPIC guidelines. Furthermore, Dr. James Hoffman, senior author of the study, told us: "We have already seen great interest in various organizations adopting these terms, and we hope this will only continue. For example, LOINC has already included the terms in a recent release, and the terms have been endorsed by the Association for Molecular Pathology."

Read the article on Genetics in Medicine: 

Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium. Kelly E. Caudle, Henry M. Dunnenberger, Robert R. Freimuth, Josh F. Peterson, Jonathan D. Burlison, Michelle Whirl-Carrillo, Stuart A. Scott, Heidi L. Rehm, Marc S. Williams, Teri E. Klein, Mary V. Relling, James M. Hoffman.