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Genetic Testing Company Expands Offering, Adds Pediatric Focus

Invitae announces new panels for pediatric, rare diseases, neuromuscular, and inherited metabolic conditions, taking its coverage well beyond oncology to more than 1000 genes.

Marie Thibault


This week, genetic testing company Invitae announced a significant expansion of its panel offerings to cover more than 1000 genes. The expansion includes a focus on pediatrics, including pediatric immunology, rare diseases, and inherited metabolic conditions, as well as neuromuscular diseases. 

The expansion was launched a quarter earlier than originally expected and will be rolled out in several releases in the coming months, said Randy Scott, PhD, Invitae's CEO and cofounder, on a March 29 investor call.

Invitae is striving to offer comprehensive genetic testing through assays that cover hundreds of genes. The company already offers coverage for oncology, as well as some cardiovascular, neuromuscular, and rare diseases, but this latest expansion adds a pediatric focus to its services. 

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Scott explained the importance of affordable, relatively quick genetic testing for pediatric conditions:

"Until recently, pediatric and newborn clinicians and their patients were relegated to expensive testing with long turnaround times, often split across different labs, some of which offered only some of the genes required, which prevented many people from being able to benefit from a reasonably-priced, comprehensive test. Our intent is to put an end to diagnostic odysseys and ensure that patients and their families have access to testing they can afford."

Instead of several thousand dollars and pricing per gene, Invitae advertises a per-indication $1500 list price, a $950 price for institutions, distributors, and payers who contract with the company, and a $475 upfront patient price. The company will maintain this same pricing scheme for the expanded offering. On average, it takes three weeks to turn around test results.

In an interview last fallScott explained that economies of scale allow Invitae to offer flat test pricing, since the same assay is being run at far higher volumes in order to investigate a particular indication instead of an assay specific to one indication being run less frequently.

According to a company press release, the expansion includes testing for more than 30 neurological disorders such as muscular dystrophies and myopathies, more than 60 pediatric and rare diseases such as periodic fever syndromes and severe combined immunodeficiency, and inherited metabolic disorders.

"Newborn screening is one of the greatest public health initiatives; it is, however, a screening test. Confirmatory genetic testing can lead to a diagnosis more quickly and allow for timely initiation of effective therapies, accurate genetic counseling, recurrence risk assessment, and carrier testing for family members," said Olaf Bodamer, MD, PhD, associate chief genetics and genomics at Boston Children's Hospital, in the press release.

Invitae isn't stopping at over 1000 genes. Scott said the company plans to continue adding more genes to its offerings--planning to reach "most, if not all, 4000 [medically relevant] genes over the next 18 months"--and bundling tests to target various patient and customer populations. "For example, our newborn genetic testing program encompasses much of the content for carrier testing of healthy adults since many of the newborn metabolic disorders are recessive traits passed on by parents to their children," he said.

Marie Thibault is the associate editor at MD+DI. Reach her at [email protected] and on Twitter @medtechmarie


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