Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.

WHY IT MATTERS

If you or your child had genetic testing that didn't find a diagnosis, this system could identify the cause of your rare disease by re-analyzing your existing test results as medical knowledge improves—potentially saving you years of diagnostic searching.

Researchers at Boston Children's Hospital created a new system that automatically re-examines genetic test results from patients with rare diseases as doctors learn more about genes and diseases. Many patients get genetic tests but don't get answers the first time. This new system helps find answers by looking at old test results again without waiting for doctors to manually review each one.

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care. Abstract: Genomic reanalysis can identify causative variants for rare diseases as patient phenotypes evolve and gene-disease knowledge expands. Despite its diagnostic value, routine reanalysis is limited by clinician capacity, lack of patient follow-up, data silos, cost, and lack of availability of clinical data to testing laboratories that are not obligated to conduct reanalysis. The Children's Rare Disease Collaborative at Boston Children's Hospital (BCH) has integrated genomic and phenotypic data from over 15,500 patients into a clinician-facing platform. Leveraging this infrastructure, we developed a Proactive Genomic Reanalysis (PGR) workflow at BCH for clinical sequencing data that is centralized, semi-automated, and clinically integrated. Here, we report initial results and outline required r Authors: Rockowitz et al. Journal: HGG advances MeSH: Humans, Rare Diseases, Genomics, Genetic Testing, Computational Biology, Phenotype