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How genomic research could improve healthcare

Brian Eastwood | April 30, 2013
The cost of mapping an individual genome is quickly dropping. The potential benefits for improving the care individual patients as well as entire populations are immense. So, too, are the obstacles to getting all stakeholders--healthcare providers, researchers, pharmaceutical companies, insurance companies and the patients themselves--to share what they've learned.

The cost of mapping an individual human genome is dropping logarithmically, from $100 million just 12 years ago to $5,000 today. Silicon Valley entrepreneurs hope to drive the price below $1,000, the cost of an MRI test, and within a decade it very well may be possible to conduct a whole genome sequence for every newborn at birth.

Cynics point out that genome sequencing is the only healthcare cost actually going down, at a time when U.S. healthcare spending is projected to approach $3 trillion in 2013. But the research and analytics that results from such data is poised to change the way healthcare providers, insurance companies and pharmaceutical companies do business-if only everyone who has the information is willing and able to share it.

Crowdsourcing One Possibility for Genomic Research

A whole genome sequence can be cost effective, says Sandy Aronson, executive director for IT at the Partners HealthCare Center for Personalized Genetic Medicine, since it can be run once and then used across multiple "episodes of care." Aronson and others spoke at the recent Medical Informatics World conference.

Today, clinicians can run 2,900 tests against a patient's genome, Aronson notes. The challenge is twofold, he adds: Knowing how to interpret the results of a test and, with a genome containing as many as 5 million variants, making sure nothing is missed.

To address this, organizations must be prepared to "pre-position" IT infrastructure to take advantage of ever-changing genomics research and incorporate it into mainstream clinical care, Aronson says. On top of that, the industry needs to change regulatory and reimbursement frameworks, provide training for healthcare providers, payers and patients, and lean on society's resources.

The latter could involve "highly structured crowdsourcing," he says, which places tests-of diseases, variants, pharmacological effects and others-in the context of patient phenotypes and family history. This augments a patient's record and can add further value with, for example, alerts that are triggered by certain test results.

Such information is also of interest to insurance companies, says Dr. Lonny Reisman, senior vice president and chief medical officer for Aetna, as it offers the opportunity use "phenotypic manifestations" for predictive analysis of patient populations. This, in turn, can be applied to "value-based insurance design," which Aetna has used to waive co-pays for certain procedures or medications that offer proven long-term benefits to patients with heart conditions, Reisman say.

For Patients to See Value, Data Must Flow Both Ways

Even with waived co-pays, the patient compliance rate remains less than 50 percent, Reisman says. This points to a larger concern in the healthcare industry: Improving patient engagement. For Aronson, Reisman and others speaking at Medical Informatics World, better information sharing will lead to better patient engagement.


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