Created by on 05/17/2011

On April 27th, the National Human Genome Research Institute (NHGRI) convened a conference entitled, “Genomics and Health Information Technology Systems: Exploring the Issues.” The meeting brought together leaders from the National Institutes of Health, genomics researchers, and experts from the electronic health record (EHR) sector for two days to discuss the opportunities and challenges of integrating genomics information into EHR systems. Among the presenters was FASEB Research Information Technology Subcommittee member Dr. Marc Williams of Intermountain Healthcare. As part of opening program, NHGRI Director Dr. Eric Green highlighted the emergence of personalized medicine, the growing prevalence of genetic testing, and the potential rich data source that EHR’s represent as reasons why the genomics research community needs to be engaged in this discussion.

Dr. Charles Friedman, Chief Scientific Officer of the Office of the National Coordinator (ONC) for Health Information Technology, spoke about the rollout of the federal government’s health informatics program. As EHR adoption moves forward, Friedman urged the EHR and research communities to work together to develop shared goals. He reported that the use of EHRs has risen to 25-30 percent among physicians and 20 percent among hospitals. Further, Dr. Friedman reported that 41 percent of office-based physicians intend to apply for Meaningful Use incentive payments from the Centers for Medicare and Medicaid Services (Meaningful Use “defines the minimum requirements that providers must meet through their use of certified EHR technology in order to qualify for the payments”). He estimated 80 percent physician adoption by 2019. Since the NHGRI conference, ONC has released its plan for the development of EHR-related standards which would be based upon the policy priorities that are currently being set.

Session moderator Dr. Teri Manolio of NHGRI spoke of the enormous research opportunities presented by EHR data and how many academic health centers are connecting EHR’s and biorepositories. She went on to describe the success of the eMERGE (Electronic Medical Records and Genomics) program, which was organized by NHGRI, with additional funding from the National Institute of General Medical Sciences, to develop, disseminate, and apply methodologies for conducting EHR-based, genomics research. Supporting Dr. Manolio’s claim were several presentations by investigators of the eMERGE program and other researchers from across the country.

The need for increased EHR adoption and improved patient access was articulated by Dr. Thomas Lehner of the National Institute of Mental Health. There are currently over 600 EHR products in use in the United States. Dr. Mark Hoffman, of EHR vendor Cerner Corporation, described each EHR as a composite product of multiple parties, with specific modules for laboratory services, medical charts, radiology, and other facets of healthcare delivery. He also spoke about the continuum of EHR’s, which range from off-the-shelf commercial to custom products, and the challenge that this presents for standardization. However, Dr. Hoffman was optimistic that currently established Meaningful Use incentives would be an important driver of EHR standardization. Independent of the actual EHR, several speakers highlighted the complexities of interpreting genomic data. For example, describing each genome as a new test, Dr. Debra Leonard of the Weill Cornell Medical College, cautioned that methods may be standardized but not the interpretation of the data. The human genome has about four million genetic variants. This makes the integration of specific individual genomic variation into a systems-level clinical interpretation a daunting task, but one that has the potential to dramatically improve patient care. To view the conference agenda and speaker presentations, click here.