Patient’s genetic information along with descriptions of their diseases will eventually be linked to EMRs so that doctors will be able to customize their patients’ treatments and outcomes. The Electronic Medical Records and Genomics or referred to as the eMERGE network which was formed by NIH’s National Human Genome Research Institute (NHGRI) with support from the National Institute of General Medical Sciences to address this need.
The first phase of eMERGE wrapping up this year, demonstrates that genetic information from EMRs can be used to study patients disease traits, including those associated with dementia, cataracts, HDL-cholesterol, peripheral arterial disease, type 2 diabetes, and cardiac conduction defects.
Some doctors are already using genetic information to identify patients who face potentially lethal side effects from the drug Warfarin and for breast cancer patients with a genetic mutation that causes them to overproduce the HER2 protein.
Teri Manolio, M.D., PhD, Director of NHGRI’s Office of Population Genomics administering the eMERGE network, said “Scientists can take a genome-wide association study that might initially involve 1000 to 2000 people and by using clinical descriptions in the EMRs suddenly multiply that by 10 to 12 thousand people at very little additional cost.”
NHGRI will incorporate the methods and knowledge learned in the first phase to expand eMERGE this year. In the near future, NHGRI plans to award $22 million to up to eight investigators for four-year studies focusing on adults and about $3.5 million to a single coordinating center.
In spring of 2012, NHGRI also plans to award up to $1.6 million to as many as three investigators to conduct three-year pediatric studies. Both adult and pediatric eMERGE investigators will conduct studies to validate the link between certain genes and at least 40 disease traits. Another NIH institute, the Eunice Kennedy Shriver National Institute of Child Health and Human Development plans to fund these grants.
eMERGE will include a consent and consultation group to explore privacy concerns. The group will study participants and community advisory groups and their concerns about genomic research and EMRs. eMERGE participant surveys already show that patients are willing to share their genetic and EMR information when it enhances the value of a research study. The surveys also show that patients want results of their own genetic tests returned to them regardless of whether the results affected their clinical care.