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As research into genetic causes of disease began to grow, Le Bonheur Pediatrician-in- Chief Jon McCullers, MD, knew it was time to start building a pediatric DNA biorepository. So in 2015, Le Bonheur’s Children’s Foundation Research Institute (CFRI) created the Biorepository and Integrative Genomics (BIG) Initiative and began collecting DNA samples from hospitalized children at Le Bonheur with the consent of their parents. “We knew then that changes in genes impact health and cause disease.

We began collecting DNA samples in the hope that at some point we would be able to sequence the DNA and use it for research,” said McCullers. Five years and more than 10,000 DNA samples later, this dream is becoming a reality. Le Bonheur and the University of Tennessee Health Science Center (UTHSC) recently signed an agreement with a leading biotechnology company to obtain genetic information from 25,000 DNA samples in the next five years with the option to increase that number to 100,000.

This partnership is a step forward to support research to better understand the genetic contributions to disease and the ultimate goal of precision medicine. Precision medicine uses genetic and other important health information to either correct or reduce the effects of genetic abnormalities or to understand which therapies will be most effective. Research into this field requires a diverse team — physicians who understand the most important medical questions, researchers who know how to analyze the DNA to answer those questions and laboratories with the capability to generate the data on a large scale and help develop new medical therapies.

Genetic data from the biorepository will provide the foundation for research that can change the way we practice medicine to provide more precise therapies.

Le Bonheur’s biorepository is one of only a handful in the country devoted to pediatrics. In addition, Memphis’ pediatric population provides a unique opportunity to focus on minority health issues and disparities. Forty-five percent of the biorepository samples are from African-American children — a unique feature compared to other pediatric biorepositories in the country. BIG collects leftover samples that would otherwise be thrown out from Le Bonheur patients in the inpatient, outpatient and Emergency Department settings. Appropriate consent is obtained and education provided for parents and caregivers to understand how their child’s sample will be used to contribute to the future of medicine.

While all samples are de-identified for research purposes, each sample connects to the patient’s electronic medical record (EMR) through a secured process. This includes a longitudinal health record of every patient, so researchers know a child’s health conditions, but not who they are. This sample can be traced back to a patient in the event that any beneficial therapies are discovered that pertain to that individual. But the pediatric biorepository is just the beginning for DNA sequencing and research at Le Bonheur. “The second phase of our biorepository is to go statewide and get to 100,000 individual samples as a part of the University of Tennessee 100,000 genomes project,” said McCullers. In addition, Le Bonheur is partnering with a local adult hospital, Regional One Health, to start an adult biorepository that will be housed at Le Bonheur. “DNA sequencing will give us insight into diseases that are not just a one gene model but have effects from multiple genes,” said Brown. “Our ultimate goal is to provide higher quality care for our patients tailored to the individual.”