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Invitae Launches Free Genetic Testing Programs With Spark Therapeutics, X4 Pharmaceuticals

NEW YORK (GenomeWeb) – Molecular diagnostics firm Invitae has partnered with gene therapy developer Spark Therapeutics to launch a free genetic testing program for patients suspected of having inherited retinal disease (IRD).

In a separate deal, Invitae also partnered with X4 Pharmaceuticals to provide free genetic testing for WHIM syndrome and Severe Congenital Neutropenia (SCN), a group of rare inherited primary immunodeficiencies.

The ID YOUR IRD program, financially supported by Spark, will provide free testing for 250 genes associated with IRD and post-test genetic counseling. IRD is a group of eye disorders caused by inherited changes in 250 genes. Some IRD conditions can cause gradual vision loss in adults, while others can cause blindness in infants.

"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 Invitae Chief Medical Officer Robert Nussbaum. Healthcare providers have to evaluate patients to determine if they meet criteria to enroll in the program. Families of patients who find out they have variants linked to IRD can also get tested within the program.  

The PATH4WARD program being offered by Invitae and X4 will offer genetic testing and counseling for WHIM and SCN at no cost. The partnership with Invitae will allow "quick and accurate diagnosis for patients" for conditions that often don't receive enough attention, X4 CEO Paula Ragan said in a statement. "This partnership provides X4 with a clear path to gather critical data to identify the underlying genetic causes of primary immunodeficiencies and deepen our understanding of these patients’ potential to respond to novel investigational therapies."

These two free testing programs add to Invitae's growing list of similar partnerships with drugmakers. The company recently inked a similar deal with Horizon Therapeutics to provide free genetic testing for people suspected of having urea cycle disorder. Invitae has also partnered with companies to provide free genetic testing for other rare conditions, such as epilepsy and primary hyperoxaluria.