Fabric Genomics AI Technology Supports Global Scientific Study of Whole Genome Sequencing in Rare Disease Diagnosis; NEJM Publication Showcases Technology-Driven Variant Detection Platforms in Accurately Identifying Causative Genetic Mutations

On November 11, 2021, the New England Journal of Medicine published findings from a pilot study that has shown how whole genome sequencing (WGS) uncovered new diagnoses for patients across the broadest range of rare diseases. The identification and prioritization of candidate genetic variants were performed with Fabric Genomics artificial intelligence (AI)-driven decision-support system and the company’s clinical genetics teams, which analyzed a large portion of the genomes of the 4,660 people in the study, a part of the 100,000 Genomes Project, led by Genomics England, England’s National Health Service (NHS) and Queen Mary University of London. The NEJM article is titled “100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care--Preliminary Report.” The pilot study found that using WGS led to a new diagnosis for 25% of the participants. Of these new diagnoses, 14% were found in regions of the genome that would be missed by other conventional methods, including other types of non-whole genomic tests. The ground-breaking 100,000 Genomes Project which produced this study was established in 2013 to sequence whole genomes from NHS patients and their families in the United Kingdom.