M.D., Ph.D., Chair & Marion V. Nelson Professor, Dept of Biomedical Informatics; Harvard Medical School
Isaac Kohane, MD, PhD is the inaugural Chair of the Department of Biomedical Informatics and the Marion V. Nelson Professor of Biomedical Informatics at Harvard Medical School. He develops and applies computational techniques to address disease at multiple scales—from whole healthcare systems as “living laboratories” to the functional genomics of neurodevelopment with a focus on autism. Kohane’s i2b2 project is currently deployed internationally to over 120 major academic health centers to drive discovery research in disease and pharmacovigilance (including providing evidence on drugs which ultimately contributed to “boxed warning” by the FDA). Dr. Kohane has published several hundred papers in the medical literature and authored a widely-used book on Microarrays for an Integrative Genomics. He is a member of the Institute of Medicine and the American Society for Clinical Investigation.
Integrating Genomic Data into Patient Medical Records
We are now over 15 years past the first draft of the human genome, with hundreds of thousands of human genomes sequenced and yet the vast majority of electronic health records have little if any genomic data. The causes for this deficiency have as much to do with physician education as technological limitations. I will discuss several recent projects show the way to scaleable incorporation of these data into the automated process of healthcare. These include the Undiagnosed Disease Network, multiple institution-specific oncogenomic applications, and the adoption of programmatic interfaces such as SMART/FHIR and their implementations in Sync4Science and commercial consumer platforms such as Apple’s iOS.