Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation

Project summary/Abstract Our present R01 funding (R01HD055651) is actively investigating the clinical utility and value of prenatal sequencing of fetal structural anomalies in clinical care. Our work has demonstrated the complexity and uniqueness of the fetal genome and the associated phenotypes. To address

this complexity, we developed an international consortium of other sites involved in fetal sequencing, which meets bi-weekly to discuss their experience. There are numerous limits to this informal model and it has illustrated the need for a single, collaborative, domain specific genomic and phenotypic data repository.

Combining our efforts with genomics leaders at The Broad Institute and The Jackson Laboratories, we aim to develop a fetal genomic and phenotypic data repository consistent with NIH guidelines for data management and sharing and inclusive of the FAIR goals of findability, accessibility, interoperability and reusability. Building this data repository using cloud

infrastructure at The Newborn Screening Translational Research Network (NBSTRN) will incorporate innovative tools and expertise from a number of partners similarly working in genomics and in the perinatal continuum to improve data sharing and collaboration. Additional expertise will be provided to support his project from The Global Alliance for Genomics and

Health (GA4GH) along with the parent grant study sites, academic, and industry partners providing pilot data. We anticipate that, when completed, this repository will serve as a major resource for investigators and clinicians working in the fields of genomics, developmental biology, and perinatal medicine. This assembled team will seek to address this critical unmet

need to aggregate and harmonize a central repository of fetal genomics data.