Mount Sinai links EMR with DNA

May 1, 2013 in Medical Technology

Mount Sinai Medical Center announced this week that 25,000 people have signed on to participate in its biobank program, BioMe, with each patient consenting to DNA sequencing and longitudinal studies related to data embedded in their electronic medical records.

The Mount Sinai Medical Center, comprises the Mount Sinai Hospital and Icahn School of Medicine at Mount Sinai. Officials there say the participants in the BioMe program represent one of the most diverse patient populations in the world.

“Biobank participants represent the ancestral diversity of the local Upper Manhattan communities, with self-reported 25 percent of African ancestry, 30 percent of European ancestry, 36 percent of Hispanic Latino, and 9 percent of other ancestry,” says Erwin P. Böttinger, MD, director of the Charles Bronfman Institute for Personalized Medicine at Mount Sinai.

“To assess representativeness of the Biobank population for the local communities from which they are recruited, we obtained publicly available individual-level data from the annual New York City Community Healthy Survey, which provides robust data on the health of New Yorkers, including neighborhood, borough, and citywide estimates on a broad range of chronic disease and behavioral risk factors,” he says.

Mount Sinai researchers published a report in 2011 that found that ethnic labels may be of little help in predicting individuals’ disease risk or determining their response to certain medications. It found that nearly 1,000 biobank participants who self-identified as European-American, African-American or Hispanic, had considerable parts of their genome coming from mixed ancestry.

[See also: Genetic testing links to EMRs]

“These findings emphasize the importance of considering the unique genotype of the individual patient rather than grouping patients by self-reported ethnicity,” said Böttinger.  “Individual genomic disease risk and treatment response information will allow us to provide highly effective, personalized care.”  

Funded by The Charles Bronfman Institute for Personalized Medicine at Mount Sinai, the BioMe program – in addition to serving as a repository of DNA and plasma samples that allows for secure, de-identified molecular research – accesses a wide array of clinical and environmental data stored in the Epic EMR and links it with genetic information.

Beyond its broader mission of biomedical research, BioMe is helping doctors give enrolled patients more targeted care. More than 600 new patients, on average, sign on to the project each month. The goal, ultimately, is to enroll 100,000.

“The large collection of DNA and plasma samples and large-scale genomic data that are stored in a way that protects patients’ privacy while allowing research to be performed on de-identified clinical information from Mount Sinai’s data warehouse system,” says Böttinger.

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