What advances in genomic research mean for federal health IT

The human genome provides all the chemical instructions—expressed as DNA—to make a person. DNA is composed of two interlacing strands made up of nucleotide bases that pair across the two strands.

We all share 3 billion base pairs—just in different order. Determining the exact order of an individual's base pairs, called "sequencing," can reveal genetic mutations (deletions, repetitions, etc.) correlated with disease and treatment indications.

The question isn't 'if', but rather 'when' will this disrupt healthcare.

The Federal Government is working to speed up "personalized medicine" efforts to get insights from genomic research to the front lines of care. Announced last year, President Obama's Precision Medicine Initiative (PMI) provides $200 million for the National Institute for Health (NIH) and National Cancer Institute (NCI) to aggregate genomic data and create a research cohort.

As part of PMI, the Department's of Veterans Affairs' Million Veterans Program is also gathering genomes from 1 million Veterans for longitudinal healthcare research. Volunteers have their blood taken, fill out surveys about their health and agree to let researchers access their VA electronic health record (EHR).

Federal agencies throwing their weight behind this is a great start, but we need to address several challenges facing personalized medicine.

Fostering participation & protecting privacy
In 2015, four years into the program, the MVP is less than halfway to its goal of 1 million Veteran volunteers. And following a public comment period for PMI, during which it became clear privacy is a major concern, the White House issued PMI Privacy and Trust Principles.

Personalized medicine hinges on participation, but prospective volunteers are understandably wary about how their data will be used and potentially accessed. It's more than just personally identifiable information (PII); in the federal and military communities in particular, people are concerned that documented markers for mental illnesses in the wrong hands could cost people their livelihood.

Genomic redaction—deleting pieces of information from your genome—is a promising area of research that deserves more federal funding and attention from the healthcare IT community.

If we want people to submit potentially sensitive genomic data, we must give them the power to choose how much and which information gets shared.

Normalizing vast amounts of data
Personalizing medicine based on genetics is no easy task due to the volume of data that stands to be collected and the need to meaningfully cross-reference it with disparate sources of health information such as EHRs.

Genome information is very data rich and thus can often be better mined using non-traditional database architectures and technologies (i.e., 'Big Data').

Currently there is no standard platform to clean, curate, and harmonize this type and breadth of data. For the MVP, VA is developing an informatics platform called GenISIS, which will house the collected data as well as pull information from VA's VistA EHR.

While the strategy and implementation roadmap are works in progress, once VA homes in on how to best normalize genomic data in a standards-based manner and map EHR data to the platform, GenISIS could provide a powerful model for handling and parsing genomic data going forward.

Deploying learning through CDS
What we stand to learn about the intersection of the genome and manifest health conditions over the next 5-10 years will outstrip clinicians' ability to absorb it through study while also treating patients and fulfilling their administrative duties.

Clinical decision support (CDS) will expedite the use of this valuable information in clinical practice. And as the Centers for Medicare and Medicaid Meaningful Use program transitions to MACRA (the Medicare Access & CHIP Reauthorization Act), requiring healthcare organizations to increasingly show "better care, not just more care," incorporating genomics at the point of care may very well impact reimbursement.

The wealth of actionable information coming our way and new payment models demand the next generation of CDS. CDS 2.0 will be designed by clinicians for clinicians, passively running in the background to connect EHR data, genomic information, patient vitals, and care guidelines.

Cognitive Medical Systems is a fast growing company helping public and private organizations make the most of clinical decision support tools. They come to us because we're able to draw from decades of operational experience in on-the-ground health delivery, informatics, and enterprise software. And we combine that with technical prowess in complex infrastructure, workflows and CDS systems integrations.

Douglas W. Burke is the President & Cofounder of Cognitive Medical Systems, a rapidly growing company specializing in clinical decision support.

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