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June 12, 2019

Invitae Announces ID YOUR IRD Program to Expand Access to Genetic Testing for Inherited Retinal Disorders

-Genetic testing can identify causes of rare, progressive eye disorders-

SAN FRANCISCO, June 12, 2019 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, today announced the launch of ID YOUR IRD, an initiative with Spark Therapeutics to offer genetic testing at no charge to patients suspected by their healthcare providers of having an inherited retinal disease (IRD), a group of rare, progressive eye disorders that may result in vision loss or blindness and are caused by inherited genetic changes.

Invitae's (NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. (PRNewsFoto/Invitae Corporation)

"Identifying the genetic cause of an inherited retinal disease can not only provide an accurate genetic diagnosis, but also help patients and clinicians make more informed decisions about their care, including considering gene-specific clinical trial options," said Robert Nussbaum, MD, chief medical officer of Invitae. "These degenerative diseases can cause severe visual impairment, up to and including blindness, often in children. We are pleased to collaborate with Spark Therapeutics on this program to increase access to genetic testing for patients."

The new genetic testing panel associated with the ID YOUR IRD program tests for approximately 250 genes associated with IRDs. Additional details and terms and conditions of the program can be found at

Variants in more than 250 genes are associated with inherited retinal diseases (also called inherited retinal dystrophies, or IRDs), a group of rare eye disorders caused by inherited gene mutations that result in vision loss, blindness, deterioration in color vision and other defects in vision. Some IRDs cause gradual, progressive loss of vision through adulthood, while others can cause blindness in infancy or early childhood. Some of the more common IRDs include retinitis pigmentosa (RP), choroideremia (CHM), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD) and juvenile macular degeneration (JMD). Stargardt disease is the most common form of inherited juvenile macular degeneration.1

ID YOUR IRD offers access to a new, broad genetic panel that tests for variants in approximately 250 genes associated with IRDs. Research has shown programs that increase access to genetic testing may result in earlier diagnosis and possible access to treatment or trials using precision therapies. ID YOUR IRD offers appropriate patients no-charge genetic testing and access to genetic counselors to discuss post-test results and next steps, subject to the terms and conditions of the program. Families of patients with genetic variants associated with disease are eligible for follow-up testing. Patients enroll in ID YOUR IRD through their physician.

Spark provides financial support for this program to enable testing to be available at no charge to patients who elect to participate, subject to the terms and conditions of the program. Healthcare professionals must evaluate patients to determine if they are appropriate to participate in this program. Genetic testing and counseling are available in the US only. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any Spark product.

Additional details and terms and conditions of the program can be found at

Invitae sponsored testing programs are designed to increase access to genetic testing, particularly in conditions where earlier testing can improve diagnosis and treatment yet testing remains underutilized. The company has programs for patients suspected of having a variety of rare and neurological disorders. ID YOUR IRD is the company's first program in ophthalmology.

About Spark Therapeutics

At Spark Therapeutics, a fully integrated, commercial company committed to discovering, developing and delivering gene therapies, we challenge the inevitability of genetic diseases, including blindness, hemophilia, lysosomal storage disorders and neurodegenerative diseases. We have successfully applied our technology in the first gene therapy approved in both the U.S. and EU for a genetic disease, and currently have four programs in clinical trials. At Spark, we see the path to a world where no life is limited by genetic disease. For more information, visit, and follow us on Twitter and LinkedIn.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at

Safe Harbor Statement

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the benefits of genetic testing and the ID YOUR IRD program. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to:  the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended March 31, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Source: Invitae Corporation

Laura D'Angelo
(628) 213-3283


  1. Sahel J, Marazova S, et al. Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect.a017111.


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