M.D., Ph.D.,Assistant Professor at Harvard Medical School
Paul Avillach holds an MD in public health and epidemiology from the University of Bordeaux and a PhD in biomedical informatics from the University of Marseilles. Avillach’s research focuses on the development of novel methods and techniques for the integration of multiple heterogeneous clinic cohorts, electronic health records data, and multiple types of genomics data to encompass biological observations. He is PI and Co-Investigator on several large projects at DBMI, including the BD2K PIC-SURE Center of Excellence, the Global Rare Diseases Registry project, the PCORI ARCH project, and the PCORI Phelan-Mcdermid Syndrome project.
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.