Before that genomics revolution, we need interoperability, patient engagement and privacy

precision medicine

The White House’s Precision Medicine Initiative is widely viewed a harbinger of a genomics revolution – one that comes with massive potential, but with several challenges from both a technical and regulatory perspective.

“As the technical limits to genomic research recede, institutional barriers are looming larger,” says a rich new whitepaper from the nonprofit Health IT Now Coalition.

So how do we get things on track? The paper lays out three recommendations to get applied genomics on track: Improving interoperability, upping patient engagement and rethinking privacy.

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To outline some of the hurdles: The current research infrastructure remains “cramped by compartmentalization that depletes research dollars and slows the pace of discovery.” The “multidimensional puzzle” that is the genome is proving exponentially more challenging to unravel than initially thought.

So although we’re ostensibly down to having that $1,000 genome, our current knowledge base has “produced only a trickle of treatments.” We need many thousands more – and need the data infrastructure, as well as a strong enough business case to validate precision medicine, to get there.

Interoperability 

The aforementioned compartmentalization issues are a symptom of proprietary technology. EHR users stick to Epic or Cerner, and the data still doesn’t migrate easily between the two, the paper says:

“Interoperability has been a top-down process until now, with the federal government issuing rules and EHR vendors and their customers finding ways around them,” the paper says. “These rules need to be strengthened.”

Extrapolate this to genomics. With the Precision Medicine Initiative, and its one-million-strong cohort of individuals who are having their genes logged for science, sharing of phenotypic as well as genotypic information is key

“At a minimum, strong interoperability requirements are essential,” the paper says. “These should include standardized vocabulary and data, and standards-driven protocols for sending, receiving, and querying records.”

These kinds of moves could allow the Precision Medicine Initiative to drive change through all levels of healthcare, the paper argues. The market can be driven forward by allowing patients to have better control of their own EHRs and sequencing data.

Patient Engagement

“Doctors are no longer the experts they once were,” the paper says, adding that IBM calculates that physicians would have to read for 160 hours per week to keep up with all the advancements in medicine. And it’s only growing, thanks to the explosion of fields like bioinformatics.

“If Americans are to have cutting-edge medicine, artificial intelligence, driven by big data, will need to play a greater role,” the paper says. “In the future, health care is likely to be two parts data, one part doctor.”

And handing over data to the patient is critical. The Food and Drug Administration “patronizingly” banned companies like 23andMe from providing health-related genomic data to patients – but that practice should be turned around, the paper argues.

“For sequencing to move into the mainstream, there should be rewards for those willing to share their essence with medical science,” it writes.

This includes educating patients about their own data privacy – that insurers, for instance, aren’t allowed by law since 2010 to change health plan rates based on genomic data. And employers have been barred since 2008 to go the Gattaca route in hiring practices, barring potential employees based on their health data.

Privacy

We must rethink privacy, the paper says – and take a critical look at the state of HIPAA and other such rules. This is already an issue being addressed by the Precision Medicine Initiative, and will undoubtedly progress as we continue to fold genomics data into our overarching health profiles. The paper writes:

“Congress should convene a dedicated commission for healthcare data, to promote policies that enable data-driven health research; examine the benefits and costs of medical cybersecurity; assess the viability of alternative privacy models; and consider standards of proportionality that better match the civil penalties for privacy breaches to the harms actually done.”

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