We might not have entered the era of designer babies or complete and infallible screening for all genetic diseases, but a patient’s DNA is becoming increasingly important when practicing medicine, holding a wealth of information that can predict responses to certain therapies and help physicians tailor treatment plans to an individual patient’s needs. Personalized medicine is a cutting edge area of study that holds great promise for many, and Mount Sinai Medical Center in New York City is at the forefront of the field, rapidly expanding their BioMe bank of patient DNA in order to conduct research and modify treatments to fit a patient’s specific needs.
By collecting DNA and plasma samples from 25,000 consenting patients, the BioMe project uses a new program called CLIPMERGE, which stands for “Clinical Implementation of Personalized Medicine through Electronic Health Records and Genomics” to communicate with a patient’s EHR, extracting data that is matched with their genetic profile in order to provide guidance for physicians when prescribing medications. CLIPMERGE was developed at Mount Sinai as a tool to provide real-time counseling for physicians based on DNA data.
“We know that genetically, some patients respond better to some drugs than others,” explained Erwin Bottinger, MD, Principal Investigator of BioMe and Director of The Charles Bronfman Institute for Personalized Medicine where the BioMe information bank and CLIPMERGE platforms are housed. “Our platforms are programmed to access that information to help physicians write informed prescriptions in the clinical setting.” Clinicians can access real-time feedback about cardiovascular disease, blood clots, and high cholesterol that indicate optimal therapies based on the DNA sequence of a patient. As research on the treatments continues, the information will be imported into CLIPMERGE and updates accordingly.
CLIPMERGE and BioMe bring laboratory research into the realm of actual patient care, eliminating the need to rely on self-reported information like a patient’s ethnicity, which is a major determining factor in many chronic conditions and acute diseases. A 2011 study conducted by Mount Sinai researchers found that the DNA of nearly 1,000 participants in the biobank who declared their ethnicity using common labels such as African-American, Hispanic, and European-American was largely mixed with other ethnic origins, complicating disease prediction. “These findings emphasize the importance of considering the unique genotype of the individual patient rather than grouping patients by self-reported ethnicity,” noted Bottinger. “Individual genomic disease risk and treatment response information will allow us to provide highly effective, personalized care.”
Kaiser Permanente, the largest healthcare system in the western United States, has also delved into genetic research by gathering DNA samples from patients, aiming to cultivate a genetic data set linked to EHR information to conduct similar research. “It’s just this playground of incredibly rich data,” Nobel laureate Elizabeth Blackburn of the University of California, San Francisco told NPR of the saliva-based DNA bank Kaiser has been collecting. “We’re just scratching the surface.”
“It’s an idea whose time has come,” added Dr. Pui-Yan Kwok of UCSF in an interview with the New York Times. “The genotyping technology is here; the electronic medical records are here.” Kaiser is sequencing the genomes of 2500 participants every week, and is planning to release the data to researchers worldwide. Mount Sinai is hoping to recruit 100,000 patients to bolster their collection of genomic data, and they are proud to be well on their way towards that goal.
“Enrolling 25,000 patients in the biobank is a significant achievement for Mount Sinai, propelling us to the forefront of precision medicine and its application in the clinical setting,” said Dennis S. Charney, MD, Executive VP for Academic Affairs at Mount Sinai. “The future of medicine lies in genomics research and translating it to the bedside – and Mount Sinai’s commitment to translational research makes us uniquely poised to lead that revolution.”
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