The human genome provides all the instructions—encoded as DNA—to make a person. DNA is composed of two interlacing strands made up of nucleotide base pairs. We all share 3 billion base pairs organized into countless genes and packed into 23 pairs of chromosomes. Determining the exact order and composition of an individual’s base pairs, a process called “sequencing,” reveals genetic mutations (deletions, repetitions, etc.) that correlate with specific diseases and variable treatment efficacy.
“The question isn’t ‘if’, but rather ‘when’ will this disrupt healthcare,” says Cognitive Medical Systems President and Co-founder Douglas W. Burke.
The Federal Government is working to speed up “personalized medicine” efforts to transition genomic research insights into 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 are throwing their weight behind the clinical implications of genomic research, which is a great start, but we also need to address several other challenges facing personalized medicine,” says Burke.
Fostering Participation & Protecting Privacy
In 2015, four years since the start of the program, the MVP was less than halfway to its goal of 1 million Veteran volunteers. Prospective volunteers are understandably wary about how their data will be used and potentially accessed. It’s more than just the concern that personally identifiable information (PII) might be released. In the federal and military communities in particular, people are concerned that documented markers for mental illnesses, for example, might be used to deny them career advancement opportunities or might affect their insurability.
Following a public comment period for PMI, during which it became clear privacy is a major concern, the White House issued the PMI Privacy and Trust Principles. These principles underscore that 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. They also indicate that managing access and disclosure of genomic data is a promising area of research that deserves more federal funding and attention from the healthcare IT community.
Normalizing Vast Amounts of Data
Personalizing medicine using genomic information 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.
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 that will house the collected data as well as pull information from VA’s VistA and other sources. “Genome information is voluminous and multidimensional; it might be better mined using non-traditional database architectures and technologies (i.e., ‘Big Data’),” says Burke.
While the strategy and implementation roadmap are works in progress, once VA hones 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.
Clinical Decision Support Deployment
What we stand to learn about the genome and health over the next 5-10 years will outstrip a clinician’s ability to assimilate and incorporate it into their clinical practice. Research is changing the landscape so quickly that providers will need assistance if there are to keep up with the volume of information about to be unleashed. As as the Centers for Medicare and Medicaid Meaningful Use program transitions to MACRA (the Medicare Access & CHIP Reauthorization Act), incorporating genomics at the point of care may become an economic necessity that impacts a provider’s reimbursement and livelihood.
Clinical decision support (CDS) will help expedite the use of this valuable information in clinical practice. CDS systems designed by clinicians for clinicians, running in the background to dynamically connect EHR data, genomic information, patient vitals, and care guidelines in real-time, will become as important to clinical practice as the stethoscope. New payment models will demand that next generation CDS capabilities both optimize care delivery and provide a safety net underlying all clinical practice.