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Research to accelerate genome sequencing in clinical care

The National Institutes of Health is funding research aimed at accelerating the use of genome sequencing in clinical care, including diverse and underserved populations, as well as healthcare settings that extend beyond academic medical centers.

Under the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium, $18.9 million in grants are being awarded in Fiscal Year 2017 to six clinical sites and one coordinating center, with additional funding planned for a total of four years.

Among the goals of CSER2 is to investigate the feasibility of exchanging genomic, clinical and health utilization data within existing healthcare systems to build a shared evidence base for clinical decision-making.

According to Lucia Hindorff, program director in the National Human Genome Research Institute’s Division of Genomic Medicine, CSER2 builds on the foundation of the Clinical Sequencing Exploratory Research (CSER) Consortium, which was funded by NHGRI and the National Cancer Institute.

Launched in 2010, CSER was “very exploratory, sort of kicking the tires,” says Hindorff, adding that the effort was the beginning of seeing genomic sequencing as a “feasible technology” given that “costs are coming down such that we might be able to start using it in clinical care.”

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While CSER2 will continue to generate evidence for the usefulness of genome sequencing in clinical care, she notes that the latest effort will focus on diverse and underserved populations. In particular, researchers will look at understudied clinical healthcare settings where genomic medicine could potentially be put into practice.

“Where we don’t have a lot of information—and particularly research data yet—is in the area of genome sequencing in the clinical setting,” adds Hindorff. “Specialized academic medical centers are early adopters of this technology. But, in order to make genomics routinely used in clinical care, we’re talking about a much broader set of healthcare settings than just academic medical centers.”

The six clinical sites receiving CSER2 awards are:

  • Jonathan Berg, MD, University of North Carolina, Chapel Hill
  • Gregory Cooper, HudsonAlpha Institute for Biotechnology, Huntsville, Ala.
  • Katrina Goddard, Kaiser Permanente Center for Health Research, Portland, Ore.
  • Eimear Kenny, Icahn School of Medicine at Mount Sinai, New York
  • Pui-Yan Kwok, MD, University of California, San Francisco
  • Sharon Plon, MD, Baylor College of Medicine, Houston

For their research, the clinical sites will recruit at least 60 percent of participants from diverse or underserved settings, who have an increased burden of disease and less access to care.

Gail Jarvik, MD, from the University of Washington in Seattle, will lead the CSER2 Coordinating Center, providing organization and logistical support to stimulate synergies among the six clinical sites to address common challenges and opportunities.

“One of the things CSER2 will seek to address is real-world barriers to data integration in the clinical setting,” concludes Hindorff. “That could come from electronic health records, lab data, and pharmacy data.

“I think the way that providers receive genomic information, and how they interpret it and make it useful for clinical care, is a huge opportunity for health IT,” she adds.

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