Invitae 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).
“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,” Robert Nussbaum, MD, chief medical officer of Invitae, said in a company news release. “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 invitae.com/idyourird.
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.
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 www.invitae.com/idyourird.
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.