A growing body of evidence has linked pharmacogenomic (PGx) testing to better patient outcomes, lower healthcare costs, reduced hospital readmission rates, and prevented adverse drug reactions. Change often comes to healthcare slowly, however, and PGx is no exception. In 2018, we saw a greater push to standardize PGx modalities and implement testing across a wide range of healthcare providers and systems. Standards are rapidly evolving and providing empirically-based guidelines for the use of PGx.
The FDA Recognizes ClinGen’s Expert Curated Human Variant Data
One of the biggest developments during this past year was the Food and Drug Administration’s recognition of the Clinical Genome Resource (ClinGen) Expert Curated Human Variant Data. Funded by the National Institutes of Health, ClinGen is a research initiative that identifies clinically relevant genes. The FDA’s stamp of approval will likely encourage the PGx community to develop additional authoritative repositories of clinical data.
Testing Standardization and Harmonization
Currently, commercially available PGx tests are neither equivalent nor interchangeable, creating significant gaps in quality and reliability. Tests should offer similar reliability regardless of which lab performs the tests. A number of expert groups are working to develop and issue standards that harmonize PGx testing modalities. This will help produce more reliable data and bolster confidence in PGx testing.
Multidisciplinary teams within the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Association for Molecular Pathology (AMP) are developing rigorous standards that can inform laboratories about panel contents, best practices, and key terminologies. These standards will support implementers to more effectively evaluate tests and choose those that fit their needs. They will also reduce recommendation disagreements between laboratories.
Other consortia have undertaken additional standardization tasks. PharmVar, for example, is working to inventory and catalog pharmacogenetic alleles and variants to expand nomenclature databases.
Although these efforts have made significant progress, there are still plenty of opportunities to develop new standards and disseminate existing ones. CPIC’s CYP2D6 Genotype to Phenotype Standardization Project sought feedback on using the CYP2D6 genotype to predict phenotypes. Drawing on data from eight surveys, CPIC published a consensus in March 2019.
Education and Training Opportunities
Efforts to gather data, improve the evidence base for PGx testing, and standardize testing processes and recommendations depend on knowledgeable pharmacists. The American Society of Health-System Pharmacists launched its online professional Pharmacogenomics Certificate program in 2018.
Educational institutions are also keenly aware of the importance of PGx testing. In 2018, Manchester University became the first university to offer a dual doctor of pharmacy (Pharm.D.) and master’s in pharmacogenomics degree. Students graduate on time by taking summer courses on PGx, uniquely equipping them to understand PGx testing and advocate for PGx in the labs and clinics that employ them.
PGx is an accelerating science, with new discoveries and standards building on older ones. 2018 was a banner year that will propel PGx to greater credibility and success. Building upon the myriad developments of 2018, 2019 is likely to be the biggest year for pharmacogenomics yet.