Mar 16, 2021

Foundation’s No-Cost Program Increased Genetic Testing Rates for IRD Patients

Eye On the Cure Research News

More than 8,000 people have applied for genetic testing through the Foundation’s program

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In a paper published online in JAMA Ophthalmology, clinical researchers at Kellogg Eye Center reported that the number of patients with inherited retinal diseases (IRDs) receiving genetic testing increased by 28.9 percent after the clinic began using the no-cost genetic testing program launched by the Foundation Fighting Blindness in June 2017. A total of 369 patients were included in Kellogg’s study which took place from July 1, 2016 through June 30, 2018.

Patients participating in the no-cost genetic testing program were also registered in the Foundation’s My Retina Tracker Patient Registry. Authors for the JAMA Ophthalmology paper were Peter Zhao, MD; Kari Branham, MS; and Dana Schlegel, MS, MPH, Abigal Fahim, MD, PhD, and Thiran Jayasundera, MD, MS.

The identification of the mutated gene causing an IRD can help patients and families better understand and manage their disease. It can confirm or refine the clinical diagnosis and reveal the inheritance pattern of the condition so risk for other family members can be better determined. Also, the identification of the mutated gene can help patients qualify for clinical trials for emerging therapies, many of which require a genetic diagnosis. Patients registered in the My Retina Tracker Patient Registry can also be notified about clinical trials for which they may qualify.

Patients in the Kellogg study were less likely to get genetic testing if they identified as Black or African-American, or if they were of another race and their primary language was not English.

“We are pleased that our program is achieving its goal of increasing accessibility for IRD genetic testing and appreciate the great job Kellogg is doing in implementing the program,” says Todd Durham, PhD, vice president, clinical and outcomes research at the Foundation. “With that said, Kellogg’s study showed we need to do a better job educating and recruiting minorities for the program. That is, in fact, an important goal for us moving forward.”

More than 8,000 people have sought genetic testing through the Foundation’s no-cost program. All ophthalmologists and most optometrists in the US can order the no-cost test for their IRD patients by visiting and registering at the Nucleus portal. If the doctor or clinic doesn’t provide genetic counseling, no-cost genetic counseling is provided by InformedDNA.