AMIA 2013: Presentation on Genomics and Precision Medicine

By 2020, availability and use of genomic information will contribute to revolutionizing how consumers will make better choices about their personal health.  This became apparent to me and others in the audience during demonstrations at the recent AMIA 2013 Symposium, on how genomics is increasing sharing between researchers and clinicians.

“It is becoming clear that genomic information will become a standard component of a person's medical record in the coming years.”     -   Peter Groen, Marc Wine and Joanne Marko,  “Genomic Information Systems & Electronic Health Records,”  Virtual Medical Worlds, August 30, 2005

A panel of researches from Vanderbilt University, Harvard Medical School , Massachusetts General Hospital and Oracle explained the impacts from their ongoing work using patient’s genetic information integrated with EHRs and clinical decision support systems. Their session was entitled,  "Sharing of Genomics Information: Perspectives from Stakeholders."

The Vanderbilt researchers talked with the AMIA audience about the problem of not having a consensus on interoperable standards with genomics.  They explained, the exponential growth of genomics requires the use of advanced computing processes, plus Clinical Decision Support feeding into the knowledge base and the Rapid Learning Health System. It is extremely important to apply Natural Language Processing and semantic interoperability standards for engaging physicians and consumers directly with genetic data. See

In order to address the challenges of open solutions and interoperability required for consumers engaging with genomic information, the Vanderbilt team uses eMerge – the Electronic Medical Records and Genomics Network.  They showed how eMerge is developing ways to combine DNA biorepositories with electronic medical records. This means 'Big Data' will be capable of delivering genomic results to patients in a clinical care setting directly.  See

The AMIA Symposium discussions on sharing combined health and genetic data at the point-or-care are important because they demonstrate the direction toward bringing the power of information to the individual, contributing to the one-stop shop that will revolutionize the healthcare marketplace, delivering  rapidly analyzed and aggregated Big Data from different streams to personalize individual treatment and services.

Some other selected links referenced in the session that you might want to explore include:
Consumers & Genetic Test Results
Defining Precision Medicine
Genomics Advisor
SMART Genomics API

When do you think genomic information will be integrated with EHR systems? Do you know of any current examples?

Author: Marc Wine