Portability will unlock lifetime value of genetic data

June 29, 2017
By Yoav Sibony, Vice President, Translational Software

The promise of precision medicine is to deliver a lifelong benefit based on an individual’s genetics, behavior, and environment. A typical journey through the healthcare ecosystem for the average person starts as a newborn in a healthcare facility, followed by the occasional pediatric visit for kid-related things like stitches, ear tubes, or a tonsillectomy. By the teenage years, we may see treatment for acne or depression, and active teens and young adults may experience sports injuries. Later in life, the journey may take you through the use of statins to control cholesterol, and drugs to manage pre-diabetes and eventually will include routine screenings such as mammograms or colonoscopies. We are all likely to experience cataracts or the need to regulate blood pressure or monitor a heart condition.

The power of the genome

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.

Pharmaceutical companies have long screened for these enzymes to safely profile products, but now this genetic screening capability is becoming accessible to all of us. Prices for performing genetic testing are dropping rapidly and are starting to average below the $500 mark thanks to the rise of numerous direct-to-consumer laboratory testing services that make genetic testing conveniently available at the local pharmacy or online. This follows the same technology odyssey we are accustomed to, where something that is initially an expensive industry tool is eventually commoditized and made available to the consumer.

Building the technology infrastructure

But how will I carry this genetic information around with me so I can share results with other healthcare providers? Unfortunately, for now we may be required to figure this out on our own. 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 (Exhibit 1). The information card may also provide additional information for how to obtain the detailed PGx report if needed.

Exhibit 1. Courtesy of Translational Software

Numerous care coordination solutions are also available that allow users to collect and access their own health information from disparate sources on a secure, central platform. This would enable the sharing and transfer of genomic information from facility to facility or state to state to allow you the benefit of fewer side effects from medications throughout life.

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. The database infrastructure supporting EHRs is not set up to support real-time access to the genetic information required to support precision medicine or the complex data sets it generates.

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.2 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.

A recent policy document and white paper published by the American Medical Informatics Association speaks to the need of standardized APIs to foster clinical access to external data and knowledge, advanced analytics, and other tools needed like genomics data to provide patient-specific cognitive assistance within the clinical workflow. In addition, the paper advises that APIs include core data elements that have received community endorsement from collaborations between specialty societies, informatics experts, standards developers, and health IT vendors.3

Lagging in this story is an information system infrastructure that will provide the capability to store, access, and flag pharmacogenomics test results over our lifetimes, anywhere, any time. As we learn more and involve additional stakeholders with an investment in using this information, we will be able to deliver more relevant genomic information at the right time to our healthcare providers using data tools that ensure we level the playing field to all.

References

  1. Ventola CL. Role of Pharmacogenomic Biomarkers In Predicting and Improving Drug Response: Part 1: The Clinical Significance of Pharmacogenetic Variants. Pharmacy and Therapeutics, 2013;38(9):545-560.
  2. Welcome to FHIR. Ann Arbor, MI: Health Level Seven International, 2016.
  3. Julia Adler-Milstein, Peter J Embi, Blackford Middleton, Indra Neil Sarkar, Jeff Smith; Crossing the health IT chasm: considerations and policy recommendations to overcome current challenges and enable value-based care. J Am Med Inform Assoc.

Sponsored Recommendations

A Cyber Shield for Healthcare: Exploring HHS's $1.3 Billion Security Initiative

Unlock the Future of Healthcare Cybersecurity with Erik Decker, Co-Chair of the HHS 405(d) workgroup! Don't miss this opportunity to gain invaluable knowledge from a seasoned ...

Enhancing Remote Radiology: How Zero Trust Access Revolutionizes Healthcare Connectivity

This content details how a cloud-enabled zero trust architecture ensures high performance, compliance, and scalability, overcoming the limitations of traditional VPN solutions...

Spotlight on Artificial Intelligence

Unlock the potential of AI in our latest series. Discover how AI is revolutionizing clinical decision support, improving workflow efficiency, and transforming medical documentation...

Beyond the VPN: Zero Trust Access for a Healthcare Hybrid Work Environment

This whitepaper explores how a cloud-enabled zero trust architecture ensures secure, least privileged access to applications, meeting regulatory requirements and enhancing user...