My Retina Tracker Program and Registry Featured in American Journal of Medical Genetics

The Foundation’s no-cost genetic testing and genetic counseling program, along with its patient registry, are having a major impact in driving clinical research and helping patients manage their inherited retinal conditions. The implementation and highlights of the program were published online, and are available at no cost, in the American Journal of Medical Genetics.

“We’ve enabled 8,000 people to order a no-cost genetic test since the program was launched in 2017 and we now have more than 15,000 active participants in the registry,” says Brian Mansfield, PhD, executive vice president of research and interim chief scientific officer at the Foundation and lead author of the paper. “We are very pleased to be helping patients receive a clearer diagnosis guided by genetic testing, as well as genetic counseling to better understand what the result means. A diagnosis is also helping patients get on the radar screen of clinical investigators. With more than 31 gene or mutation-specific clinical trials underway for emerging therapies, and several more pan-disease trials in the clinic, there are increasingly more opportunities for people to participate in the research.”

The published paper also provided insights into the IRD landscape. For example, the top five IRD genes identified through the genetic testing program (for first 5,879 cases) were:

ABCA4 (Stargardt disease): 19.0%

USH2A (Usher syndrome and non-syndromic retinitis pigmentosa): 12.9%

RPGR (X-linked RP): 6.8%

PRPH2 (RP): 4.8%

RHO (RP): 4.7%

Nearly 60 percent of people who were genetically tested through the program received a conclusive result. The detection rates were highest, about 83 percent, for people with Usher syndrome and Bardet-Biedl syndrome. Cone and cone-rod dystrophies had the lowest detection rates, about 50 percent.

“By publishing this registry information and an overview of the genetic testing data, we are expanding the body of knowledge for IRDs,” says Benjamin Yerxa, PhD, chief executive officer at the Foundation and an author on the paper. “That is an important part of our mission, because it boosts and accelerates the work of all therapy developers in our space.”

“Genetic testing is an essential step in helping patients understand more about their IRDs and in moving patients toward available clinical trials,” says Kari Branham, a genetic counselor at Kellogg Eye Center and author on the paper. “Not only has the program provided important access to genetic testing that they might not otherwise be able to get, but the data that is generated is making a significant impact on our understanding of the genetic basis for disease in the IRD patient population.”