Poster #62 - Patrick Van Hoose

Pediatric metadata collection in the Developmental Genotype Expression Project enhances developmental comparison

Patrick Van Hoose (National Disease Research Interchange), Raquel G. Hernandez (Johns Hopkins All Children’s Hospital), Melissa Faith (Johns Hopkins All Children’s Hospital), Simone Guambana (Johns Hopkins All Children’s Hospital), Thomas G. Blanchard (University of Maryland School of Medicine), Deanne M. Taylor (Children’s Hospital of Philadelphia), Rebecca L. Linn (Children’s Hospital of Philadelphia), Meghan Delaney (Children’s National Hospital), Daniel G. Leino (Cincinnati Children’s Hospital), Melissa W. VonDran (National Disease Research Interchange) and Thomas J. Bell (National Disease Research Interchange)

Purpose: The Developmental Genotype Tissue Expression (dGTEx) project is a large-scale initiative to address a significant gap in our understanding of how gene expression is regulated during development. The dGTEx project has three primary goals: 1) to create an atlas of gene expression in pediatric tissues, 2) evaluate gene expression during development and 3) create a resource of pediatric tissue and genetic data. As a first-of-its kind resource for the pediatric research community, the program developed tissue and data collection methods to maximize donated gifts from eligible pediatric donors. Methods: The dGTEx Biospecimen Procurement Center (BPC) is a multi-institutional effort collaborating with a select number of organ procurement organizations (OPOs) to collect biospecimens from 120 pediatric donors. OPOs utilize project-specific donor screening tools, authorization for donation, donor questionnaires, and standardized recovery protocols to collect up to 40 tissue types from each donor. The dGTEx BPC is responsible for processing, pathology of tissues post-recovery and metadata collection. An integrated ethical, legal, and social implications (ELSI) study team provides ongoing assessment of donor family needs as well as engagement with community stakeholders. Results: On average, the dGTEx BPC collects numerous tissue samples from 2 pediatric donors per month. The initial donor screening and collection efforts have yielded remarkably promising data for overcoming existing challenges with access to pediatric tissues, including execution of a comprehensive tissue recovery procedure resulting in an average of 25 tissues collected on-site per donor. A total of ~274 metadata fields are collected per donor including age, detailed tissue pathological evaluations, tissue recovery details, death circumstances, past medical history, and pubertal status. The extensive metadata collection for dGTEx will enhance developmental comparisons, guide experimental analysis, and strengthen the dGTEx resource for the scientific and medical communities. Results on biospecimen collection and metadata structure will be presented.