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Research
UTHSC, Le Bonheur Biorepositories Largest database of people with African ancestry in U.S.A
UTHSC, Le Bonheur Children’s Hospital Hold One of Most Diverse Biorepositories in Nation Memphis, a city where 64% of the population is Black, now has one of the largest genetic databases of people with African ancestry in the United States. This winter, researchers at the University of Tennessee Health Science Center (UTHSC) and Le Bonheur Children’s Hospital, in collaboration with the Regeneron Genetics Center, sequenced the DNA of nearly 10,000 children whose families agreed to participate and who have had blood drawn at Le Bonheur since 2015. More than 44% of the participants are of African ancestry. “This repository, one of the largest databases in the United States to contain the genetic information of Black Americans linked to their de-identified electronic medical data, is a powerful tool,” said Robert Davis, MD, MPH, director of the UTHSC Center in Biomedical Informatics and the University of Tennessee-Oak Ridge National Laboratory Governor’s Chair in Biomedical Informatics. “It will enable us to study unmet medical needs for conditions like epilepsy, asthma or development delay. By looking at these conditions in people representing a wide variety of ancestries that better reflect populations from around the world, we can better address the diversity of health disparities. By focusing on how specific genetic variations in DNA affect risk for disease, we can potentially devise better treatments for individuals who have those variations.” Parents gave permission for their children to participate. All genetic and health information was de-identified in accordance with the HIPAA standards for de-identification to help maintain the privacy of all participants. 14
The new database holds the potential of helping advance the science of precision medicine, which investigates a patient’s genetic code to pinpoint differences in genes that could make that person more — or less — susceptible to a disease or condition. Researchers can also use the patient’s genetic data to study what treatments may be most effective for such patient. Of the human genomes collected in repositories around the world, about 79% are from people of European ancestry, making it challenging to use that to understand the genetic contributions to diseases or conditions in other populations. “This disparity places Black Americans and other underrepresented groups at risk for not benefitting as much from precision medicine initiatives. The goal is to make the potentially lifechanging advantages of genetic analysis available to all people,” said Scott Strome, MD, Robert Kaplan Executive Dean of the UTHSC College of Medicine and vice chancellor for Health Affairs. “The goal is to help everybody.” Researchers and clinicians will be able to search the database to test hypotheses,” says Robert Williams, PhD, professor in the College of Medicine and Chair of the UTHSC Department of Genetics, Genomics & Informatics. “They might say, ‘I have a hypothesis that the differences in Gene X, which may be a calcium channel that is expressed in the brain is critical for the risk of epilepsy, particularly in pediatric cases.’ Now, they can say, ‘Do we see that genetic marker/difference in all populations? Do we see any relationship between this calcium-channel gene and its genetic differences that could produce higher or lower risk for epilepsy, irrespective of population?’”
