NIH grants to combine genomics and EHRs

The National Institutes of Health will support research that incorporates DNA sequence information into EMRs with a dozen awards.

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, according to an announcement.

The grants, administered by the National Human Genome Research Institute (NHGRI), are 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 in about 100 clinically relevant genes.

“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, MD, PhD, program director of eMERGE in the Division of Genomic Medicine at NHGRI. “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.

The eMERGE III coordinating center will provide a range of logistical support to the network investigators, including the necessary bioinformatics tools and data-sharing, and organize and maintain working groups and committees. The coordinating center will also work with the Central Genome Sequencing and Genotyping Facilities to provide quality control for DNA sequencing data, manage the network phenotyping and genotype/sequencing datasets for genomic discovery, manage the network website and facilitate collaborations outside the network.

The eMERGE III network will employ two central sequencing and genotyping facilities. They will carry out and coordinate all of the network’s DNA sequencing and genotyping activities. Investigators will interpret the potential roles of genetic variants in the eMERGE III studies and their effects on gene function.

By identifying the potential medical effects of rare genomic variants in about 100 clinically-relevant genes, eMERGE is attempting to move genomics research closer to clinical application.