One of Most Diverse Biobanks in the USA Held by UTHSC and Le Bonheur Children’s Hospital

Robert Rooney, PhD, assistant professor in the Department of Pediatrics at UTHSC, prepares equipment in the Biorepository and Integrative Genomics lab that is used to transfer a set of 96 DNA samples into barcoded tubes for long-term storage. Photo courtesy of Le Bonheur Children’s Hospital. (credit: UTHSC)

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 CenterRegeneron 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.

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“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.

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 life-changing 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.”

“We expect this database to become even more powerful as it grows,” said Chester Brown, MD, PhD. He holds the St. Jude Chair of Excellence in Genetics at UTHSC and Le Bonheur.

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?’”

Regeneron, which is working to collect a large repository of representative genomic data in order to advance the field of genetics and drive the development of new therapies for diverse populations, sequenced the Le Bonheur samples and shared the resulting data with UTHSC.

“Along with our existing dataset, which is one of the most diverse in the world, this data will enable Regeneron to continue searching for clues that can help better understand the genetic contributors to health and disease in diverse populations,” said Timothy Thornton, senior director at the Regeneron Genetics Center. “Addressing the health needs of underserved populations is an effort best achieved through diverse scientific collaborations, and by empowering our collaborators’ research, we are collectively working to address these unmet needs.”

“We appreciate Regeneron’s participation in this project,” Dr. Davis said. “This scientifically focused collaboration has allowed us to take a major step in advancing the vision of precision medicine for the citizens of greater Memphis and ultimately, throughout Tennessee.”

UTHSC expects requests to study the database from across the nation.

“We have processes in place to ensure that this information, provided by the people of the greater Memphis community, will be used appropriately and responsibly,” Dr. Davis said.

In the six years since UTHSC and Le Bonheur began their biorepository, researchers have gathered approximately 25,000 parental permissions.

UTHSC’s goal now is to collect 100,000 DNA samples from across the state, including adults. To do so, it is building alliances with East Tennessee State University in Johnson City, Tenn., and Regional One Health in Memphis.

“Not everyone who agrees to participate has blood drawn at that time. But when they come back for a clinic visit, if they do happen to have blood drawn, we can start the process of adding their genome to our database,” said Chester Brown, MD, PhD. He holds the St. Jude Chair of Excellence in Genetics at UTHSC and Le Bonheur.

“We expect this database to become even more powerful as it grows.”

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