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Clinical PGx Implementation Consortium Developing API for Guidelines Integration Into Health Records


NEW YORK (GenomeWeb) – The Clinical Pharmacogenetics Implementation Consortium plans to use funds from a government grant to develop an application programming interface (API) that will make it easier for healthcare organizations to integrate its pharmacogenetics recommendations into their clinical decision support systems.

CPIC is an international consortium of experts who since 2009 have been helping implement pharmacogenetic testing into medical care by creating evidence-based gene/drug clinical practice guidelines. The National Institutes of Health last week awarded CPIC's leaders from St. Jude Children's Hospital and Stanford University a $5 million grant to continue its work developing and updating PGx guidelines.

"This is the bulk of our work and it takes a lot work," said Mary Relling, CPIC co-chair and the head of St. Jude Pharmaceutical Sciences Department. "We had hoped that some of the [guidelines] would stay static." But given the pace of genomics research uncovering new variants and drug associations, "we're having to update every guideline," she said.

CPIC has issued 20 guidelines that address 35 drugs. Updates are made periodically online, and for nine guidelines, CPIC has published entirely new versions with changes to recommendations. However, among healthcare providers, the adoption of PGx testing hasn't been robust. 

One of the biggest barriers to the implementation of PGx testing in healthcare is the need for the genetic information to be available at the time a patient is being prescribed the drug. Not only do genetic test results already have to be available, but the doctor also needs ready access to information about how the treatment should be adjusted (by changing the dose or switching to another drug) based on that result.   

In recent years, some healthcare systems have addressed this challenge by preemptively testing patients with certain diseases or phenotypes for a handful of PGx variants, storing that information in their electronic health records, and creating decision support that brings that information to the physician's attention when they go to prescribe drugs that might be differentially metabolized by those genetic variants. Since PGx implementation is likely to continue in this way, CPIC will use the NIH grant funds to develop an API that clinical sites can use to bring in the most up to date PGx guidelines into decision support frameworks.

Keeping up to date with CPIC guidelines is currently a challenge for clinical sites, Relling said, because they have to make sure they're keeping up with how the guidelines are changing over time and the updated tables may not be easy to find on the consortium's site. "There is a lot of interest in that because many clinical sites, hospitals and clinics, have decided they want to implement pharmacogenomics," she said. "And they just want a way to sweep the site on a daily basis and update their local informatics system to reflect the changes."

And, of course, different sites implement PGx information in different ways. Certain PGx variants are associated with multiple drugs, and CPIC might have guidelines on all of them. But a clinical site may be testing a PGx variant and reporting results only for one of those drugs. Making the guidelines available via an API would allow for more customization.

Currently, there is no timeline for when the API will be launched. According to Relling, CPIC leaders are talking to EHR vendors, but the API will be freely available and agnostic of the EHR system.

Currently, there is little standardization in terms of EHR systems and decision support across clinical sites around the country. There is a whole industry around creating interfaces for EHRs that link certain content to clinical decision support, but there may be more consolidation and standardization in this space in the future.

"Perhaps in the coming years there will be a clear front runner or two … so that we don't have so many different hospitals and healthcare systems having to create their clinical decision support systems from scratch," Relling said. "CPIC wants to be helpful to those companies that want to consolidate this."

CPIC will also use a portion of the NIH grant funds to communicate and disseminate its guidelines within the medical community. CPIC has been around for more than a decade, but Relling said that the consortium continues to get feedback that many people aren't aware of its guidelines. "You can just look at the general uptake of pharmacogenetic testing in the world," she said. "It's still used sparingly."

Earlier this year, CPIC created a new dissemination working group with the charge to work with other healthcare and medical professional groups and raise awareness of the consortium's guidelines. CPIC guidelines are currently available on, indexed in PubMed, endorsed by the American Society of Health-System Pharmacists and the American Society for Clinical Pharmacology and Therapeutics. The guidelines are also referenced in ClinGen, which is an effort to create a central resource for the relevance of genes and variants used in precision medicine and research, and in PharmGKB, a catalogue of genomic variation in drug response.

CPIC is also hoping that its guidelines will be endorsed by the College of American Pathologists, which accredits labs. CAP's endorsement would not only raise awareness of these guidelines in the lab community, but also spur their uptake among labs seeking accreditation, which in turn could help standardize which variants are included in tests and how they're interpreted in reports.