NEW PRODUCT APPLICATIONS: Registry Offers Resources to Inherited Retinal Disease Patients

Offerings include genetic testing and counseling, notifications of clinical studies, and more


A new open-access registry for US patients with inherited retinal disease (IRD) offers no-cost genetic testing and genetic counseling. Launched in October 2019, the program expands upon a genetic testing program offered by the Foundation Fighting Blindness, which has already tested more than 6,000 patients and aims to grow the country’s largest volume IRD genetic testing program. In 2017, the My Retina Tracker Registry launched a genetic testing program via a partnership between the Foundation Fighting Blindness, the largest nongovernmental organization supporting research for treatments and cures of IRDs; Blueprint Genetics, which provides genetic testing and clinical interpretation; and InformedDNA, which provides genetic counseling by certified genetic counselors with IRD expertise.

Between 200,000 and 300,000 people in the United States have IRDs, making them quite rare. IRDs are a group of about 23 diseases, including retinitis pigmentosa, Stargardt disease, and Usher syndrome, that lead to the loss of retinal function. When classified by genetics, however, there are more than 250 different types of IRDs. Retinitis pigmentosa, for example, has at least 65 different genetic subtypes, meaning that a mutation in any one of 65 genes will cause it. The only approved therapy for an IRD is a gene therapy for people with a disease caused by a mutation in the gene RPE65. More than 38 other therapies for IRDs are in clinical trials; many are gene-specific or mutation-specific.


To support research studies and clinical trials, it is important to learn as much as possible about IRDs: how a disease impacts people’s lives; how many people have which type of disease; at what age a disease started to become noticeable; how quickly it progressed; and the visual status of people with the disease, says Brian Mansfield, PhD, executive vice president research and interim chief scientific officer at Foundation Fighting Blindness in Columbia, Maryland.

“It’s helpful to know a disease’s genetic cause, which was why we started a genetic testing program,” Dr. Mansfield says. “Initially, it was only for people already in the registry.”

“There needs to be a way to quickly contact the few people with each disease when there are natural history studies or clinical trials,” Dr. Mansfield says. “Most eye care professionals don’t see many patients with these rare diseases. An informative database provides a single central point of contact that can accelerate enrollment in studies and speed research.”

Jacque L. Duncan, MD, professor of clinical ophthalmology at University of California, San Francisco, says providing no-cost genetic testing and counseling is an extremely valuable offering, because health insurance usually doesn’t cover this testing. Patients are tested for more than 285 IRD genes.

The new open-access genetic testing program allows any retinal specialist who diagnoses a patient with an IRD to order the test from Blueprint Genetics, which uses a comprehensive panel of genes associated with retinal degenerations, Dr. Duncan says. She used the program on a pilot basis and now uses it daily in her clinical practice. The current program makes testing available to a much larger network of retinal specialists, bringing genetic testing to many more patients, Dr. Duncan says.


To get started, if a clinician doesn’t already have an existing account with Blueprint Genetics, they will need to create one. This will give them access to the company’s online ordering system. This can be accomplished via email or with a 5-minute phone call.

During an eye exam, a clinician can order a free comprehensive genetic test using the My Retina Tracker program for a patient with an IRD. In doing so, the clinician will also order no-cost genetic counseling to explain the results. Testing is available to any person who is clinically diagnosed with an IRD living in the United States or US territories who hasn’t had a comprehensive genetic test since 2016. My Retina Tracker enables patients to better understand how retinal degenerations affect vision regardless of their location, age, insurance status, or whether they see a retinal degenerations expert, Dr. Duncan says.


This is the first coordinated nationwide collection on this scale of data on the geographic distribution or prevalence of IRDs in the United States, specifically at the genetic level. “Our database, with over 15,000 people, is addressing that issue,” Dr. Mansfield says. “The data continue to attract industry into developing therapies for IRD patients.”

The registry raises general awareness about the prevalence of IRDs, providing industry with data to support the market potential for a treatment. The registry never shares patients’ contact information; in fact, data are deidentified in the registry.

The registry acts as a connector — if an industry researcher is interested in a particular person or group, the registry can inform those people about the opportunity and provide them with contact information if they want to learn more. Patients can be contacted and invited to participate in patient focus groups, natural history studies, research studies, and clinical trials, providing a single point of access to hard-to-find patients. As products tested in clinical trials are FDA approved, the registry can help manufacturers rapidly identify their market.

“Many of my patients discuss information they have received from My Retina Tracker to find out how the information is relevant for their condition and to get my opinion about different clinical trials that seek participants,” Dr. Duncan says. A goal is to test more than 20,000 IRD patients in the program within the next few years, Dr. Mansfield says. RP