Why federated queries are key to a trusted research environment for rare diseases

BeginNGS is tackling the challenge of scaling genome-based newborn screening (gNBS) to diagnose severe childhood-onset genetic diseases (SCGD) more efficiently, which is crucial given that rare genetic conditions significantly impact global child health. Utilizing a combination of human expertise and AI, BeginNGS aims to create a comprehensive list of actionable genetic disorders and interventions, while minimizing false positives through a blocklist. The platform's pilot of rapid whole genome sequencing (rWGS) demonstrated its potential benefits by identifying conditions earlier than traditional methods. To enhance global collaboration without compromising data privacy, BeginNGS employs federated queries, which allow researchers to perform complex analyses on shared aggregate genomic data without exposing sensitive information. TileDB supports this by providing a secure database environment that facilitates federated queries, thus enabling more effective rare disease treatment by allowing hospitals and research groups worldwide to share variant data securely, leading to improved health outcomes for newborns.

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