Eye2Gene Go to Market Strategy

The retina is a highly specialized, light-sensitive neural tissue located at the posterior segment of the eye, responsible for transducing incident light into electrical signals that are interpreted by the brain as vision. In the United Kingdom, inherited retinal diseases (IRDs)—a heterogeneous group of genetic disorders that impair retinal function—affect approximately 1 in 3,000 individuals. IRDs represent the leading cause of blindness among children and working-age adults in the UK. Despite their prevalence and impact, IRDs are often challenging to diagnose due to their genetic and phenotypic complexity. Clinical presentation varies widely among individuals with IRDs, ranging from congenital blindness to progressive visual decline over time. Although therapeutic interventions are emerging, particularly gene-targeted therapies, their implementation is contingent upon accurate identification of the causative genetic variant. To date, pathogenic mutations in over 300 genes have been implicated in IRDs, highlighting the need for precise molecular diagnosis as the foundation for prognosis, genetic counseling, and treatment planning. Currently, IRD detection often begins in community optometry settings, where retinal imaging may prompt referral to general ophthalmology services, followed by subspecialist evaluation at tertiary centers such as Moorfields Eye Hospital. However, the scarcity of IRD specialists and the complexity of genetic diagnosis contribute to prolonged diagnostic timelines—frequently exceeding five years—thereby delaying access to appropriate care and support services. To address this gap, we have developed Eye2Gene, an artificial intelligence (AI)-based decision support tool designed to assist in the diagnosis of IRDs directly from retinal imaging. Trained on a large dataset of retinal scans linked to genetically confirmed diagnoses, Eye2Gene demonstrates diagnostic accuracy that surpasses that of leading IRD specialists. Preliminary evaluations, including clinician feedback and patient engagement, indicate strong support for the tool’s clinical potential. Moreover, the project has garnered widespread attention across scientific, public, and media platforms both within the UK and internationally with interested potential users contacting us every day. To transition Eye2Gene into routine clinical practice, we are currently piloting real-world evaluation across in NHS eye hospitals, in order to assess safety, diagnostic performance, clinical utility, and user acceptability. Data generated will inform regulatory pathways and support NHS adoption. This grant will specifically support Eye2Gene's go to market strategy and the health economic, human factors, and regulatory work that underpins it. Patients have been actively involved in all stages of the Eye2Gene project, including the co-design of the website interface, surveys, diagnostic reports, and feedback mechanisms. Ultimately, the deployment of Eye2Gene in settings lacking subspecialist expertise will democratize access to expert-level IRD diagnostics, reduce diagnostic delays, and facilitate timely access to care. Our long-term objective is to scale Eye2Gene globally, with a particular focus on improving access to genetic diagnosis in low- and middle-income countries where specialist resources are limited.