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Invitae Expands Test Offerings, Inks Agreement With BCBS Association


NEW YORK (GenomeWeb) – Genetic testing company Invitae has expanded its next-generation sequencing-based assay to 600 genes from 200 genes and added new diagnostic panels in the areas of cardiovascular disease, hereditary cancer, neuromuscular disorders, rare disease, and pediatric disease, the company said today.

In addition, the firm struck an agreement with the Blue Cross Blue Shield Association this week that allows it to negotiate with individual plans for in-network status.

Invitae went public in February, and expects to bill for between 16,000 and 18,000 tests in 2015. The company has a different business model than many other clinical NGS test developers. The company sequences the same set of genes for all of its disease-focused tests, but only analyzes those ordered by the physician. And all tests have the same price.

For out-of-network and non-contracted institutions, the price per indication is $1,500 and for in-network third-party payors and institutions in contract with Invitae, the test can be as low as $950. For patients without insurance or who do not meet insurance criteria for coverage, each indication costs $475 when the individual has registered online and paid in advance. For these patients, a clinician must still order the test.

"The goal is to aggregate large numbers of medically relevant genetic tests onto a single platform at a low cost, so we can take advantage of economies of scale," Invitae CEO Randy Scott told GenomeWeb.

By the end of next year, the firm plans to expand its test to 1,000 genes for a price of $1,000.

Scott told GenomeWeb that the single pricing structure is helpful when negotiating with payors for reimbursement. "It really aligns our financial incentives with those of the payors," he said, because the company is "not incentivized to push people to order more genes." Instead, the focus can be "on the right set of genes for the patient in order to get the right answer."

He added that the company only recently began engaging with payors to negotiate in-network status for its test, following the publication of its technology and platform in a peer-reviewed journal. That study compared Invitae's test for hereditary breast cancer to Myriad Genetics' test, showing that for all BRCA1 and BRCA2 variants, it was concordant.

The one assay format is also cost effective, because all samples are treated the same way in the lab in terms of library prep and sequencing, which enables multiplexing and allows panels that are ordered less frequently to still cost the same as high-volume panels. Turnaround time for all panels is around three weeks.

The company has now expanded its testing menu, adding genes and new panels in the areas of hereditary cancer, cardiovascular disease, neuromuscular disorders, and rare and pediatric diseases. In addition, Invitae plans to roll out other panels over the next several months based on the expanded 600-gene test, Scott said.

"We think this is just a stepping stone to next year including over 1,000 genes," Scott said. And, by the end of 2017, the company aims to have "all known major inherited genetic disorders in a single assay format."

In the realm of hereditary cancer, Invitae has expanded its menu to 40 individual panels, up from nine, doubling the number of genes it assays. It has added new panels, including for gastric cancer and Lynch syndrome, as well as expanded on existing panels for breast, gynecologic, colon, and pancreatic cancer.

In the realm of neuromuscular disorders, Invitae has panels for Duchenne/Becker muscular dystrophy, dystonia, and pediatric neurodevelopmental syndromes, and it has expanded its existing panels for Charcot-Marie Tooth disease and hereditary spastic paraplegia. Around 100 genes on the panel are related to neuromuscular disorders.

For rare and pediatric diseases, Invitae has added a new panel for congenital structural heart defects and expanded its panels for RASopathy, ciliopathy, and primary ciliary dyskinesia.

But its biggest focus with the expanded assay is in the field of cardiovascular disease. The expanded panel now includes 190 genes related to cardiovascular disorders, up from 35. And, there are now over 30 individual panels for arrhythmias, cardiomyopathies, aortopathies, familial hypercholesterolemia, pulmonary hypertension, and congenital heart disease.

In addition, Scott said the company plans to publish a study in a peer-reviewed journal on its cardiovascular panel in the near future.  And, it is also planning a study of sudden cardiac death by sequencing DNA from autopsy samples. 

Next year, Invitae will focus more on neurological disorders, specifically central nervous system-based genetic disorders, including epilepsy, Scott said, followed by pediatric and rare diseases.

The company currently runs its assay on the Illumina HiSeq 2500 system, but Scott said that the firm also has the HiSeq 4000 and Pacific Biosciences' RS II system in house. He said the company is interested in using the RS II for regions that are hard to sequence with short-read technology, in order to resolve things like pseudogenes or to sequence through repetitive regions.

Many genes have pseudogenes that are nearly identical to the gene, but not functional. In some cases, long reads are needed to determine whether a specific mutation is in the gene or the pseudogene, Scott said, in order to decide whether it is functional or not. The RS II could also be useful for diagnosing diseases caused by tri-nucleotide repeats, he said. Scott said the company is looking at ways to incorporate PacBio sequencing alongside the standard panel test for certain indications. 

Like others in the clinical sequencing field, Scott said eventually the field is likely to move to whole-genome sequencing, but "today, it's done at fairly low coverage with a lot of gaps and holes," he said.

Instead, Invitae is taking the approach of first "aggregating the 4,000 or so genes we know are medically relevant," he said, and "build from the ground up."