California-based Fabric Genomics will partner with the Broad Institute of MIT and Harvard to help improve its whole genome sequencing (WGS) analysis offering.
WGS is becoming more common in the hospital setting as researchers and clinicians understand the value it has for fast diagnosis of rare conditions, which can sometimes take years to diagnose without it. However, interpretation of this data is still in the realm of genetic experts.
Fabric has developed an artificial intelligence (AI) based platform that can quickly provide feedback and interpretation of WGS data, without the need for extensive expert analysis. The company will provide access to this platform for researchers at the Broad Institute to “support the interpretation of clinical whole genomes and generate patient reports,” according to a press release announcing the collaboration.
The company’s system was recently successfully tested in a study by Genomics England that used WGS to look for genetic variants that were causative for rare disease in over 4000 people that took part in the 100,000 Genomes Project.
Fabric has two main versions of its platform, Fabric ACE and Fabric GEM. Fabric ACE uses AI to look for more than 90 gene variants linked to disease that are already searched for regularly using other genetic testing panels.
Fabric GEM is able to rank the variants present in the sequence and assess which is most likely to be causing disease. It was shown to be 90% accurate in testing at Rady Children’s Institute for Genomic Medicine. Both these tools were accurate in testing and dramatically speed up the analysis phase of WGS.
“Many people with rare diseases, including newborns, do not have easy access to this type of high complexity clinical whole genome testing which can have a profound impact on health outcomes,” said Martin Reese, co-founder and CEO of Fabric Genomics. “We are very proud to support the Broad Institute in providing healthcare providers and patients greater access to genomics-driven precision medicine.”