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NIH programs explore genomics application in ‘real world’ setting
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WASHINGTON — Two large-scale research projects supported by the NIH have been aimed at expanding the use of genomics from the laboratory setting into everyday clinical practice.
Teri Manolio, MD, PhD, director of the division of genomic medicine at NIH’s National Human Genome Research Institute, discussed the two programs, the Electronic Medical Records and Genomics Network (eMERGE) and Implementing Genomics in Practice (iGNITE), in a presentation at the U.S. News & World Report’s Hospital of Tomorrow Forum.
Teri Manolio
“We wanted to take our research from focusing primarily on genome sequencing to actually implementing this into care,” Manolio said. “These two programs, eMERGE and iGNITE, are large implementations across centers to generate the evidence needed to justify using these interventions – or not using them – and assessing their system-wide impact.”
The two programs are aligned with a strategic plan published by the NIH in 2011, and are intended to expand the use of genomic research.
“We had been working on the structure of genomes since our inception; it began as the human genome project,” Manolio said. “So once we understood the structure of genomes, we wanted to understand the biology of genomes, and that led us into the biology of disease – how does the genome influence who gets sick and who stays well?”
From there, Manolio said the institute sought to use this information to improve disease diagnosis, treatment and prevention, and to improve health care's ability to implement this new knowledge without significantly increasing costs. One of the programs developed from the strategic plan was eMERGE, which started in 2007 to determine whether EHRs tied with hospital biorepositories could be used for high-quality genomics research.
“At the time, this was a big question,” Manolio said. “It wasn't clear whether the consent was adequate, or if the data collected were good enough, and even if EHRs could provide enough in the way of phenotypes.”
In its second phase, which was implemented in 2011, the program sought to incorporate individual patient genotyping data, along with electronic phenotyping, into the EHR to provide personalized care.
The iGNITE network is a project designed to take the findings of research programs like eMERGE and apply them in less resource-intensive settings, Manolio said.
“We wanted to bring this to places that weren’t as familiar with this, to expand our existing efforts and develop new collaborative projects,” she said. “We wanted to get this out from the tertiary research centers and really try to get some real-world experience.”
iGNITE applicants come to a sort of “parent” site, where they work with several groups on a wide variety of genomic projects, including family history, clinical decision support, APOL1 genotyping, cancer genomic testing and diabetes genomic testing.
“Because we’re a non-disease-specific institute, we can solicit for anything that’s a good idea,” Manolio said. “We’ve got groups working on some very innovative things.” ─ by Jennifer Byrne
For more information:
Manolio T. Preparing for the age of personalized medicine. Presented at: Presented at: U.S. News & World Report’s Hospital of Tomorrow Forum; Oct. 6-8, 2014; Washington, D.C.