The company was originally founded as a spinoff from Korean genomic services provider Macrogen to offer direct-to-consumer genomic rare disease screening tests.
The company announced this week the expansion of a genetic testing program for US patients with inherited retinal disease that it has run with partners since 2017.
A New York Genome Consortium-led team plans retrospective and prospective analyses on very rare cancers in the hopes of improving treatment options available for patients.
The testing programs are financially supported by the drugmakers, and will allow Invitae to provide free testing and genetic counseling for rare inherited retinal disease and primary immunodeficiencies.
In patients with a range of rare diseases, RNA sequencing in blood had a 7.5 percent diagnostic rate and identified candidate genes in 16.7 percent of cases.
Silence Therapeutics aims to use the database to help identify new drug targets, as well as for patient recruitment and stratification in clinical trials.
The Genomics4RD platform is focused on data harmonization from research collaborations across Canada, but its developers are eyeing a future in the clinical market.
