Currently, there are several projects underway to link EHRs and human genomic data. Among the most promising is the Electronic Medical Records and Genomics (eMERGE) Network.
Funded by the National Human Genome Research Institute, the eMERGE network joins researchers from nine healthcare research organizations and hospitals with a wide range of expertise in genomics, statistics, ethics, informatics and clinical medicine. Up to 10,000 patients will have sequencing performed on them in reference to 83 specific genes, with another 50,000 to 80,000 patients getting more general genotypes.
The resulting data will improve genetic risk assessment, disease prevention, diagnosis and treatment, and can be used to develop genomic-based medicines, according to Dr. Gail Jarvik, head of the division of Medical Genetics at the University of Washington.
The eMERGE network includes the University of Washington, the Mayo Clinic, Boston Children's Hospital and the Geisinger Health System. The network started out looking for genes for more common diseases, using computer algorithms with EHRs to find the diseases associated with a particular genotype.
"This year, the network moved into pharmacogenetics, and it is very interested in sequencing of genes related to treatment response or adverse response to medications," Jarvik said.
Jarvik, one of the network's principal investigators, said the network has been successful in finding disease genes, immunity genes, and eye and cardiac disorders.
The eMERGE project has developed a computer algorithm that extracts disease types from a number of different EHRs at various institutions. Researchers then input the data and look for genetic markers that point to mutations responsible for diseases.
"When you move to pharmacogenetics, there are problems you can have with drugs," Jarvik said. "A drug can be ineffective, or you may have an effective use of that drug but you may need a different dose than someone else. Or you might have a bad reaction. We want to work on all those problems."
Shah and other researchers caution that many variables affect a person's health, and genomics won't be a cure-all. But the use of big analyses can help improve patient outcomes.
Notes, images and biometrics
Genomics is only "one tiny fraction" of the myriad efforts to improve healthcare, Shah said. "For the average Joe who has hypertension, diabetes [and] high cholesterol, genomics is completely useless."
One of the most valuable tools in diagnosing and tracking patients still involves medical notes, and new natural language processing software is allowing those physician's notes to be codified into database fields that most healthcare professionals don't have time to fill out themselves.