The Nicklaus Children’s Hospital Biobank this summer enrolled its 500th participant, a significant milestone for the biorepository, founded in 2019 to address imbalances in genomic research, with the goal of enhancing individualized care for children in South Florida and beyond. The Biobank is part of the hospital’s Personalized Medicine Initiative, committed to harnessing the latest developments in genomic science to speed effective treatments for pediatric conditions, while optimizing benefits and minimizing side effects.
“Enrolling more than 500 participants in the Biobank is a great success for Nicklaus Children’s Hospital,” Principal Investigator, Dr. Paula Espinal said. “It is very exciting and gratifying for our partners and patients to see the tangible results of our efforts. It furthers our drive to expand access to even more sites and even more people in the years to come.”
Dr. Espinal noted, "Biobanking is key in generating biomedical research and improved medical care. This is going to give physicians and patients the ability to receive powerful, actionable insight into navigating medical care. We want to make sure that within the development of new drugs and other technologies, the genomic makeup of individuals in our community is very much taken into consideration."
Doctors diagnose genetic disorders in patients by comparing their DNA to "reference genomes," based on the pooling of genomes that have already been sequenced. Currently, most participants in genomic research are of European descent, with Black, Hispanic, and Latino populations vastly underrepresented. In a multi-ethnic community like South Florida, this presents a challenge in applying genomics to patient care.
The Biobank was founded to help address this gap through a $7 million gift from Sanford Health. The Nicklaus Children's Biobank aims to collect samples from diverse participants representing South Florida and, more broadly, the growing diversity of the U.S. Children are underrepresented in existing biobanks around the country and the world. Understanding genetic variants and disease patterns in children will advance personalized medicine to better serve young patients.
Nicklaus Children's Hospital made a giant leap in embracing the genomic revolution in medical care in 2018, becoming the first and only pediatric hospital in the southeastern U.S. to implement personalize medicine at the bedside with the founding of its Personalized Medicine Initiative. Other highlights of the program include research that has validated the benefits of whole genome sequencing and rapid whole genome sequencing to support the care of children with undiagnosed genetic disorders.
Since its opening, the Nicklaus Children's Biobank has collaborated with leading U.S. research entities. Most recently it has worked with the Centers for Disease Control and Boston Children's Hospital to better understand the link between COVID-19 and multisystem inflammatory disorder in children (MIS-C) and to assess why children are less often affected by COVID-19, while viruses such as influenza cause severe pediatric illness.
“The success of population-based studies depends on the willingness of large numbers of diverse individuals to grant researchers access to detailed medical and genetic information,” said Dr. Espinal. “The goal of the Nicklaus Children's Biobank is to encourage and facilitate focused research in the pathogenesis, diagnosis, and treatment of patients in our diverse South Florida community.”
For the future, Nicklaus Children’s Biobank is focused on continuing to increase participant enrollments and cultivating strong partnerships, as well as expanding to more underserved populations. The Nicklaus Children’s Biobank also aims to educate more south Floridians on personalized medicine, genomics and biobanking, and break down barriers to research participation.
Dr. Espinal is the principal investigator of the Nicklaus Children's Biobank and Manager of the Personalized Medicine Research Program. Dr. Steven Melnick is Medical Director of the Nicklaus Children's Biobank and Chief of the Department of Pathology and Laboratories.