Biorepository and integrative genomics initiative: designing and implementing a preliminary platform for predictive, preventive and personalized medicine at a pediatric hospital in a historically disadvantaged community in the USA

Abstract

Current healthcare is evolving to emphasize cost-effective care by leveraging results and outcomes of genomic and other advanced research efforts in clinical care and preventive health planning. Through a collaborative effort between the University of Tennessee Health Science Center (UTHSC) and Le Bonheur Children's Hospital (LBCH), the Biorepository and Integrative Genomics (BIG) Initiative was established to set up a pediatric-based DNA biorepository that can serve as a foundation for successful development of delivery platforms for predictive, preventive, and personalized medical services in Memphis, Tennessee, a historically disadvantaged community in the USA. In this paper, we describe the steps that were followed to establish the biorepository. We focused on domains that are essential for implementation of a biorepository for genomic research as an initial goal and identified patient consent, DNA extraction, storage and dissemination, and governance as essential components. Specific needs in each of these domains were addressed by respective solutions developed by multidisciplinary teams under the guidance of a governance model that involved experts from multiple hospital arenas and community members. The end result was the successful launch of a large-scale DNA biorepository, with patient consent greater than 75% in the first year. Our experience highlights the importance of performing pre-design research, needs assessment, and designing an ethically vetted plan that is cost-effective, easy to implement, and inclusive of the community that is served. We believe this biorepository model, with appropriate tailoring according to organizational needs and available resources, can be adopted and successfully applied by other small- to mid-sized healthcare organizations.