Invitae rolls out neurology, cardiology Dx, stays focused on affordability

Invitae is boosting its neurology and cardiology diagnostic test offerings. The San Francisco-based company will be adding 11 panels for heritable diseases and will update 17 existing neurology panels and 8 existing cardiology panels.

Invitae is a genetic information company, specializing in genetic diagnostics for hereditary disorders. The company aims to bring genetic information into mainstream medical use "to improve the quality of healthcare for billions of people," the company website explained. "Invitae is aggregating the world’s genetic tests into a single service with better quality, faster turnaround time, and a lower price than most single-gene tests today."

These most recent additions to Invitae's offering will not increase the cost or time it would take to conduct the tests, and will be immediately available to children’s hospitals, pediatricians and medical genetic professionals.

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The genetic tests include the Hereditary Parkinson’s Disease & Parkinsonism Panel which analyzes up to 17 genes associated with the conditions; the Comprehensive Neuropathies Panel which analyzes 78 genes which cover Charcot-Marie-Tooth (CMT) disease, hereditary motor neuropathies, hereditary sensory and autonomic neuropathy and riboflavin transporter deficiency neuronopathy; and the Comprehensive Neuromuscular Disorders Panel, which analyzes 116 genes regarding muscular dystrophy, myopathy and congenital myasthenic syndrome.

Other myopathy panels test for hyperkalemic periodic paralysis, body myopathy and autophagic vacuolar myopathy. Additional neuropathy panels include those regarding hereditary sensory and autonomic neuropathy and motor neuropathies, and riboflavin transporter deficiency neuronopathy.

New research has resulted in 13 new genes for the CMT panel, 20 new genes for the comprehensive hereditary spastic paraplegia panel, and updates to 15 panels in Invitae’s neurology offering.

“We are excited to see the addition of new genes in Invitae’s CMT panel,” said Susan Ruediger, patient advocate and Director of Development at the Charcot-Marie-Tooth Association, in the announcement. “Comprehensive genetic testing can provide patients with a definitive diagnosis, which is critical for the treatment and management of the disease.”

Within its cardiovascular panels, Invitae has expanded 8 existing panels to diagnose aortopathies, arrhythmias, cardiomyopathies and pulmonary hypertension. Invitae also added a cardiomyopathy and skeletal muscle disease panel. This panel is aimed at those with overlapping features for heart and skeletal muscle disorders. It analyzed up to 157 genes associated with neuromuscular disorders and cardiomyopathies.

“The role of genetic testing in diagnosing cardiovascular disease is rapidly expanding, now offering us insights that can help patients with a variety of conditions, such as dilated cardiomyopathy and primary arrhythmias,” said Ray Hershberger, professor of cardiovascular medicine and director of the division of human genetics at The Ohio State University Wexner Medical Center. “Importantly, genetic testing can also help us understand when cardiac problems are actually the first symptoms of a broader genetic disease. Expanding our ability to access clear and comprehensive genetic information will help us better diagnose and treat patients.”

Cost can be a major roadblock to advances in genetic testing. “We believe the main roadblock has been the high cost of genetic testing which forced the healthcare system to ‘ration’ genetic testing to very high risk individuals,” Invitae CEO Randy Scott told FierceMedicalDevices. “Now that the price of comprehensive genetic testing has come down, that roadblock is being rapidly eliminated and genetic testing is becoming more affordable and accessible to patients and healthy individuals at risk for a genetic disorder.”

Invitae boasts a transparent pricing structure dependent on the number of genes being tested. For payers and institutions in a contract with Invitae, prices can be as low as $950 per clinical area. For third-party payers out-of-network for Invitae or not contracted, the price per clinical area is $1,500. To those patients who do not have third-party insurance coverage or who can not meet requirements for coverage, Invitae offers a full test offering for $475 per clinical area.

Scott has plans for Invitae to continue building on its low-cost platform. “We plan to continue to aggregate all of the world's inherited genetic tests into a single low-cost platform in order to provide affordable genetic tests for not only patients and families with disease but also for healthy individuals for more preventive medicine,” he said via email.

However, Scott noted the lack of medical geneticists and genetic counselors could prove troublesome. “In terms of future roadblocks, we believe there is a dramatic shortage of medical geneticists and genetic counselors and thus Invitae is investing in providing professional support for ordering physicians with regard to gene selection, interpretation of results, and genetic counseling support for families,” Scott explained.

Still, Invitae will continue building on its current work and expanding its network. “Our long-term goal is to build a network of clinicians, patients, healthy individuals, and researchers in order to help manage genetic information over the life time or course of disease of a patient,” Scott said.

- here's the release

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