Healthcare Analytics, Population Health Management, Healthcare Big Data

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NIH to boost role of genomics in research, clinical analytics

By Jennifer Bresnick

- The National Institutes of Health will be launching a new program this summer aimed at expanding the role of genomics in the identification, research, and treatment of a range of diseases.  Led by Dr. Michael Gottesman, Deputy Director for Intermural Research, the newly minted Clinical Center Genomics Opportunity (CCGO) will allow researchers to delve deeper into the root causes of certain conditions with the added power of DNA data.

“We’re trying to jump-start genomic medicine,” Dr. Gottesman said. “It’s as if we were missing a whole dimension-like living in flat land and wanting the third dimension to navigate the landscape of the disease you’re studying. We first need to build an infrastructure for clinical genomic sequencing that can be used by researchers in their projects at the NIH Clinical Center.”

CCGO will help to sequence and analyze 1000 exomes, and then select a series of projects that can make the best use of the new data.  “The initiative will help investigators take advantage of genomic technologies and develop capabilities to work with genomic data from clinical research patients,” explains Leslie Biesecker, MD, chief of the National Human Genome Research Institute’s Medical Genomics and Metabolic Genetics Branch. “NIH investigators will advance their own research and CCGO will develop the infrastructure and pipeline within the Clinical Center to begin to manage genomic data in a clinical context.”

Only a few hospitals consistently use DNA sequencing as part of routine care, the NIH says, even though the cost of collecting and sequencing important exomes has declined significantly over the past few years.  While the cost was as high as $10,000 just five years ago, the price for completing the lab work is currently hovering around $600, bringing the prospect of personalized medicine closer to becoming mainstream. “At some time in the future, I imagine we will be sequencing everybody – maybe full genome sequencing,” Gottesman said. “But there’s a lot we need to learn from here to there.”

“We want the Clinical Center to be at the forefront of individualized genomic medicine,” said Biesecker. “Use of exome data is the way to get a toe-hold in this field and develop those capabilities. Then the practice of genomic medicine at the Clinical Center can evolve over time so that it becomes both more generalized and more useful for researchers and patients.”

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