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Mount Sinai Links Genetics with EMR

May 1, 2013
by Rajiv Leventhal
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New York’s  Mount Sinai Medical Center has announced that 25,000 people have signed on to participate in its biobank program, BioMe, where each patient has broadly consented to DNA sequencing, contact from researchers, and longitudinal studies related to data embedded in the electronic medical record (EMR). 

BioMe accesses a broad range of clinical and environmental information stored in the EMR and links it with genetic information.  It is also a repository of DNA and plasma samples that allows for secure, de-identified genetic and molecular research.  In addition to being an engine for biomedical research, BioMe is helping doctors give enrolled patients more targeted, precise care.

A team of physicians, genetic scientists and experts in information technology at The Mount Sinai Medical Center have developed and are gradually implementing a new program called CLIPMERGE for 'Clinical Implementation of Personalized Medicine through Electronic Health Records and Genomics'. CLIPMERGE utilizes a potentially revolutionary new tool, developed at Mount Sinai that communicates with the EMR and gives doctors real-time therapeutic guidance based on a patient’s genetic profile. With its interoperable BioMe and CLIPMERGE platforms as flagship institutional infrastructures, Mount Sinai has the capability to close the loop between genomic discovery and the implementation of genomic medicine in clinical care. 

“We know that genetically, some patients respond better to some drugs than others,” Erwin Bottinger, M.D., principal investigator of BioMe and director of The Charles Bronfman Institute for Personalized Medicine where the BioMe biobank and CLIPMERGE platforms are housed, said in a statement.  “Our platforms are programmed to access that information to help physicians write informed prescriptions in the clinical setting.” 

Currently, real-time feedback on optimal therapeutics based on DNA is available for three conditions related to cardiovascular disease, blood clots, and high cholesterol.  As science yields greater insights into the role that genetics plays in drug efficacy and reactions, BioMe and CLIPMERGE will be updated accordingly.

In 2011, Mount Sinai researchers, in collaboration with Loyola University Chicago Stritch School of Medicine, published a report that found the use of ethnic labels –African-American, Hispanic and Caucasian—may no longer be helpful in predicting disease risk or determining how a patient will respond to certain medications.  The report, published in the online journal, PLoS One, 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-African or European ancestry. 

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

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