Invitae ramps up testing menu with new offerings in neurology, pediatrics

Invitae CEO and co-founder Randy Scott

Last year, Invitae ($NVTA) said that it was aiming to expand its test menu to more than 1,000 genes by mid-2016. Now, the company has achieved that goal ahead of schedule by launching tests for neurology, pediatrics and rare diseases and a new product that helps improve newborn screening for metabolic and immunological conditions.

San Francisco-based Invitae's updated testing menu includes tests for more than 30 neurological disorders including muscular dystrophies and myopathies, and products that screen for more than 60 rare pediatric disorders such as severe combined immunodeficiency, which causes a weaker immune system in children. The company is also rolling out tests that can supplement newborn screening by pinpointing metabolic diseases and common birth disorders, Invitae said in a statement.

"With this menu expansion, we now have more than 1,000 genes in production a full quarter ahead of our 2016 plan to achieve this goal by mid-year and are on track to continue expanding our test menu while lowering cost of goods sold in 2016," Invitae CEO Randy Scott said in a statement.

The company is keeping its low-cost model for the new tests. In 2015, Invitae said that it would slash prices for its genetic tests. Payers who have contracts with the company pay $950 and out-of-network third party payers pay $1,500 for the tools. Patients who do not have third-party insurance can get the tests for $475 as long as a doctor orders it, first, and the individual pays in advance of testing.

"One of our goals is to make genetic testing more affordable and accessible to billions of people, and this new pricing strategy enables us to leverage the progress we've made and convert that into savings for patients and the healthcare system," Scott said when the new pricing was announced last June.

Another one of Invitae's goals is building out its testing menu to cover more diseases and disorders, and at least so far, the company seems to be making progress. Last year, the company achieved its objective of passing the 500-gene mark for its testing menu with more than 600 genes and panels for areas including hereditary cancer, cardiovascular disease and neuromuscular disorders. It also rolled out a bigger epilepsy testing menu with 100 "carefully curated genes" that allow doctors to pick and choose tests based on specific symptoms or conditions.

The company is billing its latest tests similarly. Doctors can order Invitae's neurology tests based on a certain indication, for example, rather than having to order a series of tests for diagnosis. Many companies require doctors to order groups of tests and do not allow them to pick and choose panels, so Invitae is quick to talk up its systems' advantages.

"Our neuromuscular panels are thoughtfully designed and structured for flexible ordering based on clinical presentation and observations from neuropathology, which is unique," Tom Winder, a medical geneticist at Invitae, said in a statement. "This update to our neurology offering gives clinicians strong, affordable testing options, especially for highly heterogeneous disorders like the muscular dystrophies."

The company is also pointing to shorter testing times for its products. Test results take an average of 3 weeks to process, which is faster than many other companies with related tests. And time is often of the essence in diagnosing pediatric disorders and congenital birth defects, the company said in a statement.

"Having seen so many parents searching tirelessly for answers for their children suffering from pediatric and rare conditions, my colleagues and I at Invitae are excited to be able to provide comprehensive, high-quality tests at prices that families can afford," Invitae CMO Robert Nussbaum said in a statement. "Often a genetic test can provide these parents with definitive answers as to what is happening with their child, and the sooner we can get these answers, the more management options become available to the patient and the family. This can make all the difference to a child's health and quality of life, and to a parent's peace of mind."

- read the statement