Precision Medicine

Portability will unlock lifetime value of genetic data

By: Yoav Sibony

Jun 29, 2017


The promise of precision medicine is to deliver a lifelong benefit based on an individual’s genetics, behavior, and environment.

Few things can be as predictive of your healthcare experience throughout life than your liver. Liver enzymes and how they process what we ingest are controlled by genetics. A simple pharmacogenetic (PGx) test today for less than $1,000 can predict how your body will process some of the most common medications that you will take as you come in contact with the healthcare system. Since genetic factors can account for up to 95% of drug response variability and susceptibility¹ and determine if some people have a lesser or greater sensitivity to certain drugs, genetic testing can be extremely valuable to prevent adverse drug reactions and personalize the medications that work best for you.

But how will I carry this genetic information around with me so I can share results with other healthcare providers? Some healthcare organizations are beginning to provide patients with wallet-sized information cards containing high-level, summary genetic information of relevant gene and drug interactions so that PGx test results can be reviewed and reinterpreted by healthcare providers in the future.

The vast majority of hospitals and health systems are now using electronic health records (EHRs) that should ideally enable the exchange of PGx information electronically, but there are limitations regarding the existing healthcare IT infrastructure preventing easy integration of actionable genetic data into the clinical workflow.

Fortunately, a key tool helping vendors expand the EHR’s functionality is application programming interfaces (APIs) developed using FHIR—Fast Health Interoperability Resources, an open-source standard for ensuring interoperability and security in the exchange of healthcare information. FHIR-based APIs accelerate the development of gene-enhanced applications by allowing access to existing pharmacogenomics knowledge platforms. As a result, gene-based decision support tools are coming to market embedded in our hospital’s electronic health record infrastructure or medication management system to deliver on this capability at the point of care.

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