"It's just simply the more partners in the network, the more testing can be done," George said. "The resources are there with more partners."
Invitae's sponsored testing programs with drug makers go beyond genetic epilepsy. In immunology, for example, it's working with X4 Pharmaceuticals Inc. (NASDAQ: XFOR) of Cambridge, Mass., to identify people who may carry a genetic mutation associated with severe chronic or congenital neutropenia, a condition that leads to a higher risk of recurrent severe infection. It is also working with drug makers in cardiology, nephrology, ophthalmology, urology and metabolic disease, including Novato's Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE).
Those tests are getting results. Alnylam Pharmaceuticals Inc. (NASDAQ: ALNY) of Cambridge, Mass., has received 78 hits from 705 samples submitted to Invitae to identify patients with a mutation for acute hepatic porphyria, a liver disease for which Alnylam won Food and Drug Administration approval in November to treat with the drug Givlaari.
That may not look like a big number, but Alnylam spokeswoman Christine Lindenboom said acute hepatic porphyria can take two to 15 years to diagnose. So a test that can tie together symptoms with genetics means the right drug — in this case, Givlaari — can get to the right person.
Alnylam also is working with Invitae to find patients with the defective genes responsible for hereditary transthyretin amyloidosis — deposits of the protein amyloid that can cause vision problems, heart damage and liver trouble, among other symptoms — and the kidney disease type 1 primary hyperoxaluria.
The drug maker's Onpattro was approved by the FDA in August 2018 for hereditary transthyretin amyloidosis, and its experimental Lumasiran targeting hyperoxaluria is being submitted to the FDA.
Alnylam also partnered with Mountain View-based 23andMe Inc., which offers direct-to-consumer testing to detect hereditary transthyretin amyloidosis.