Invitae Greatly Expands Testing Panels, Introduces Pricing for Uninsured

San Francisco-based startup laboratory Invitae has dramatically expanded its menu of test offerings and is also offering significant discounts to uninsured patients. The company said it was providing testing for more than 60 rare pediatric diseases, including severe combined immunodeficiency and periodic fever syndromes. It was also offering screening for metabolic diseases for newborns. Additionally, Invitae announced that it was expanding its offerings of neurological tests to more than 30 disorders, including muscular dystrophies, myopathies and congenital myasthenic syndrome.

“We are proud to now offer more comprehensive testing panels for patients who may be suffering from a variety of disorders, including neuromuscular, pediatric, and a host of rare conditions. We’re also now introducing testing for inherited metabolic conditions and immunodeficiencies that are part of most newborn screening programs,” said Invitae CEO Randy Scott. “With this menu expansion, we now have more than 1,000 genes in production a full quarter ahead of our 2016 plan.”

The company issued a variety of collateral marketing materials to support the test expansion, including video interviews with employees, scientists and executives with non-profits that advocate for taking proactive stances against rare childhood conditions. The predominant message was that early testing was the best way to head off the impact of an unknown disease in a newborn or toddler.

“The hardest process as a parent was really trying to find an answer for why my children were sick, and it is something I really hope this is something that can change for future patients,” said Heidi Bjornson- Pennell, a San Francisco attorney who sits on the board of the PCD Foundation. Her two children presumably were diagnosed with primary ciliary dyskinesia, a rare genetic disorder that causes severe respiratory tract issues.

“The sooner an expanded testing panel is employed in the diagnosis of an acutely ill, undiagnosed child, the greater the value of the test in terms of reducing other diagnostic expenses and speeding beneficial care,” said Steven Bleyl, M.D., the medical director of the Clinical Genetics Institute at Intermountain Healthcare.

Straightforward pricing for the testing was also released. Invitae said the list price per panel was $1,500, but that most insurers would pay around $950. Uninsured patients would not be charged more than $475 per panel—a significant drop in price for such tests compared to several years ago. However, the expansion of the testing and the relatively low prices invites questions as to whether overutilization could occur. SCID, one of the disorders for which it tests, only occurs in about one in 100,000 births.

In a conference call discussing the expansion of the testing, Robert Nussbaum, M.D., Invitae’s chief medical officer, noted that the tests have high sensitivity but relatively low selectivity, meaning only about one in five positives actually means the child has the condition for which they are being tested. Confirmation would have to come in the form of follow-up blood and genetic tests, he said.

“It is the responsibility of the clinician to determine who is best suited for genetic testing. We do look at guidelines that have been set by professional medical societies and often refer clinicians to look to those guidelines,” said company spokesperson Katherine Stueland. “We also suggest that clinicians look at a patient’s family history to help inform the decision.”

Invitae performed 19,000 billable tests in 2015, nearly half of which were delivered during the fourth quarter. It forecasts delivering between 50,000 to 70,000 billable tests in calendar 2016.

Takeaway: Invitae has greatly expanded its test panels, and will be pushing for greater testing for rare genetic diseases.