Search the KHIT Blog

Wednesday, September 2, 2015

Omics update: National Human Genome Research Institute Health IT news

Well, this bears watching.
NIH grants seek best ways to combine genomic information and EHRs
Researchers seek to better understand genomic basis of disease, provide tailored care to patients

Bethesda, Maryland, Tues., September 1, 2015 - A dozen awards from the National Institutes of Health will support research that incorporates DNA sequence information into electronic medical records. The goal of research conducted by the Electronic Medical Records and Genomics (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to individual patients based on their genomic differences.

The grants, administered by the National Human Genome Research Institute (NHGRI), represent   the third phase of the eMERGE program, and focus on moving genomics research closer to clinical application by identifying the potential medical effects of rare genomic variants (inherited differences in the DNA code) in about 100 clinically relevant genes. The activity of such genes can affect a person's health, and might affect treatment choices.

"The newly funded projects are focused on discovering genes and gene variants with clinical implications by using the latest sequencing technologies to examine rare and common variants suspected to relate to disease risk and treatment effects," said Rongling Li, M.D., Ph.D., program director for eMERGE in the Division of Genomic Medicine at NHGRI, a part of NIH. "The other important component of these grants is implementing what researchers learn about these gene variants into medical settings to improve patient care."

Researchers will look at the best ways to provide DNA test results to physicians and patients, she said, and ways in which doctors might use this information to improve clinical treatment and practice. These funded researchers will also examine the psychological and economic effects on patients and families, and the effects on healthcare systems, in using this information...
Full article w/grantee information here. I'm seeing a total of $52,405,228 in awards (I may be overcounting, given the somewhat unclear way the monies are reported).

I direct you to a number of my prior posts on the "Omics" topical issues:
"It's not so elementary, Watson." Developments in Health IT (June 29th)
"Personalized Medicine" and "Omics" -- HIT and QA considerations (July 16th)
Are EHRs obsolete? (Aug 6th)
"Personalized Medicine" - will Health IT be up to the task? (Aug 16th)
Three core (compound) questions, really:
  • Will commercial ("clinical") "omics" assays be sufficiently, uniformly accurate and precise?
  • Will clinical staff be adequately up to speed on "omics" dx analytics and tx options, and how will all of this fit into workflows?
  • Will Health IT capacity and functionality on the street suffice uniformly, or will we have a digital "omics divide" for a long time?

Another question comes to mind. Are we seriously proposing to import raw gene sequence information into EHRs as "structured data" rather than just document-oriented PDF summary reports (e.g., attachments that are essentially faxes by any other name) -- i.e., the the way we now handle imaging study radiologists' "impression" narratives? (I have yet to see my prostate OncoType dx results, but I'm sure it simply comprises a brief summary genetic "impression" written by my urologist's assay vendor's genetic analyst.)

Above, a snippet of genetic sequence "raw data." I rather doubt that many physicians would have any interest in or diagnostic need to see stuff like this. It seems to me that the utility may well run the other way, i.e., correlating the myriad patient data elements routinely captured in EHRs (e.g., Pt Demographics, FH, SH, PMH, CC, Vitals, Active dx's, Active Rx's, HPI, H&P, ROS, Labs/Imaging, specialist consults, etc) with Omics data. The old word "registry" comes to mind.


"The eMERGE Network brings together researchers with a wide range of expertise in genomics, statistics, ethics, informatics, and clinical medicine from leading medical research institutions across the country. Each center participating in the consortium is uniquely situated to provide critical resources to this highly collaborative and productive network. Each site combines abiobank or study cohort with extensive genomic data and access to clinical data derived from electronic medical records. Sites are geographically dispersed and have diverse patient populations, including two sites focusing specifically on pediatrics."

eMERGE is a national network organized and funded by the National Human Genome Research Institute (NHGRI) that combines DNA biorepositories with electronic medical record (EMR) systems for large scale, high-throughput genetic research in support of implementing genomic medicine.  eMERGE studies and pilots genomic medicine translation  through discovery, implementation, tools, and policy.  During Phase I and II, the Network deployed more than 40 electronic phenotype algorithms across more than 55,000 subjects with dense genomic data.  Returning clinical results has been implemented or planned for pilot at sites across the Network.  A large-scale survey of patient attitudes regarding data sharing is being sent to 90,000 clinic patients across the country.  A multicenter pilot of returning genome sequence information to electronic medical records (EMRs) for use in healthcare is almost complete.  Themes of genomics, bioinformatics, genomic medicine, ethnics, data sharing, privacy, and community engagement are of particular relevance to eMERGE.

eMERGE was initiated in 2007 and included five biorepositories linked to EMRs.  The network demonstrated that EMR phenotyping to develop cohorts for genome-wide studies was a robust approach to genetic discovery, defined approaches for enhancing privacy of shared EMR data, and engaged patients and communities in consent and data sharing. eMERGE expanded to include 7 clinical sites in 2011 and 2 pediatric sites in 2012.
eMERGE is openly interested in collaborations.  Current external collaborations include the US Air Force, ENCODE, IGNITE, and the larger ELSI (Ethical, Legal, and Social Issues) community.  eMERGE is dedicated to developing tools, identifying best practices, and communicating results for participant consent, data sharing, and returning genomic research results,to benefit the broader medical and scientific communities and the general public.
Interesting, all of it.

More to come...

No comments:

Post a Comment