New Research Shows Dramatic Shift in Understanding of Personalized Medicine

Captured by Mount Sinai Medical Center

Researchers at Mount Sinai School of Medicine, in collaboration with researchers at Loyola University Chicago Stritch School of Medicine, have made a critical discovery that may lead scientists to abandon the use of broad conventional ethnic labels—African-American, Hispanic, and Caucasian—to estimate a patient’s genetic risk for disease. This first-of-its kind study conducted with diverse patients receiving care at a single urban academic medical center, marks an important step in the clinical application of personalized medicine. The data are published online in the peer-reviewed journal PLoS ONE.

The Mount Sinai Biobank, a program of the Charles R. Bronfman Institute for Personalized Medicine, enrolls consented patients representing the diverse communities surrounding The Mount Sinai Medical Center, who confidentially provide DNA and plasma samples to aid in genomic and personalized medicine research. Researchers used state-of-the-art genomic technology to determine the genetic make-up, or genotype, of nearly 1,000 local Biobank participants who self-identified as European American, African-American, or Hispanic. They found that there was a continuum in ancestral genetic heritage at the individual level of African-American and Hispanic patients receiving care at Mount Sinai—meaning considerable fractions of their genome came from mixed European or African ancestry, respectively—and with it genetic variants that indicate risk for developing disease.

“Our data indicate that historical population labels may not be helpful in predicting disease risk or guiding how a patient will respond to certain medications,” said Erwin Bottinger, MD, Director of the Bronfman Institute, and the Irene and Dr. Arthur M. Fishberg Professor of Medicine. “Rather, a spectrum of mixed ancestry is emerging in the largest U.S. minority groups. These findings further validate the importance of considering the unique genotype of the individual patient rather than grouping patients by self-reported ethnicity.” Read more…

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