Genome Medical says IRD patients face long delays in genetic testing

By AI, Created 6:45 PM UTC, May 21, 2026, /AGP/ – Genome Medical released a white paper on May 27, 2026, saying inherited retinal disease patients often wait years for genetic testing even as gene therapies move through development. The report argues that better testing access and patient identification will be critical to getting emerging treatments to the right people.

Why it matters: - Inherited retinal diseases are progressive and often irreversible, so delays in diagnosis can reduce the chance patients reach emerging therapies in time. - The report says more than 30 IRD therapeutic programs are now in clinical development, making faster genetic testing and patient identification more important for trial recruitment and treatment access. - The findings also point to a broader gap between rapid progress in precision medicine and the patient access systems needed to use it.

What happened: - Genome Medical released Inherited Retinal Diseases: Voice of the Patient, a new white paper on May 27, 2026. - The report draws on surveys of a nationwide patient cohort and peer-reviewed literature. - Genome Medical said the white paper examines diagnostic challenges, unmet needs and precision medicine opportunities for patients and families living with inherited retinal diseases. - The company made the full white paper available as the full white paper.

The details: - Inherited retinal diseases are among the most genetically complex conditions in medicine, with pathogenic variants identified in more than 280 genes. - The conditions affect an estimated 5.5 million people worldwide. - IRDs are a leading cause of blindness among working-age adults. - The first FDA-approved gene therapy for an IRD was approved in 2017. - Despite that milestone, the report says most patients still do not have a disease-modifying treatment and many still do not have a genetic diagnosis. - Nearly half of surveyed patients waited more than five years from first vision symptoms to completion of genetic testing. - When patients received guideline-recommended testing, 74% said it confirmed their diagnosis. - Another 25% said testing gave them a new diagnosis they did not have before. - The report says navigational and financial barriers still keep many patients from getting tested. - Patients with relatively preserved vision can still face major symptom burdens that affect mobility, employment, relationships and identity. - The survey found strong interest in emerging gene therapies, with trial interest described as nearly universal.

Between the lines: - The white paper frames genetic testing as a gateway to care, not just a diagnostic step. - The report suggests that patients with the right testing and counseling can become a much more usable pool for clinical trials and future commercial launch planning. - Genome Medical argues that genetically characterized, clinically engaged patient cohorts will matter more as the IRD pipeline matures, especially for natural history data, patient-reported insights and genotype-phenotype studies. - Jill Davies, Genome Medical chief executive officer, said patients surveyed were informed, motivated and ready for the IRD pipeline, but broader collaboration will be needed across genetic testing, counseling, clinical development and patient advocacy.

What’s next: - The report says closing gaps in testing access and patient identification will be essential as more IRD therapies advance. - Genome Medical expects the strategic value of patient cohorts to grow for trial recruitment, endpoint selection, regulatory strategy and commercial planning. - Inherited Retinal Diseases: Voice of the Patient is the latest entry in Genome Medical’s Voice of the Patient series, following reports on cardiomyopathy and genetic epilepsy.

The bottom line: - Genome Medical’s central message is straightforward: the science is advancing faster than patient access, and bridging that gap will determine how many people actually benefit from the next wave of IRD therapies.