622 - Accelerating pediatric genomic research via a state-of-the-art biospecimen collection model for the Developmental Genotype Tissue Expression Project

Publication Number: 4608.622

Patrick Van Hoose, National Disease Research Interchange, Swedesboro, NJ, United States; Melissa VonDran, National Disease Research Interchange, Philadelphia, PA, United States; Thomas Bell, NDRI, Philadelphia, PA, United States; Rebecca L. Linn, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Raquel G. Hernandez, Johns Hopkins All Children's Hospital, Tampa, FL, United States; Simone F.. Guambana, Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States; Thomas Blanchard, University of Maryland School of Medicine, Baltimore, MD, United States; Deanne M. Taylor, University of Pennsylvania Perelman Medical School, and the Children's Hospital of Philadelphia, Philadelphia, PA, United States; Melissa A. Faith, Johns Hopkins All Children's Hospital and Johns Hopkins University School of Medicine, Palmetto, FL, United States

Background: 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. .

Objective: 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 collection methods to maximize donated gifts from eligible pediatric donors.

Design/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, and standardized recovery protocols to collect up to 40 tissue types from each donor. The dGTEx BPC is responsible for processing and pathology of tissues post-recovery. The dGTEx Pediatric Pathology Committee (PPC) provides expert pediatric guidance on the recovery and pathological review of collected tissues that bolsters experimental design and analyses. 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 pediatric donation: 21% authorization rate and 25 tissues collected on-site per donor. The BPC PPC utilizes a standardized tissue-specific pathology template to define pathological findings, including cellular autolysis, target tissue composition, and developmental staging. The BPC and the Laboratory, Data Analysis, and Coordinating Center (LDACC) convene monthly to examine biospecimen collection and tissue quality metrics (pathology and molecular data) to guide dGTEx scientific goals and honor donation.

Conclusion(s): The data from the first set of ~30 case reviews have demonstrated that our OPO-based model is yielding high-quality pediatric biospecimens that will be suitable to support rigorous, pioneering experimental analyses for the program. Results of biospecimen collection and tissue quality metrics results will be presented.