Genetic Diagnostic Testing and Ethical Responsibilities in Retinal Diseases

Retinal diseases constitute a clinically and genetically heterogeneous group of disorders characterized by progressive dysfunction or degeneration of the neural retina and/or retinal pigment epithelium. In recent years, molecular genetic testing methods have become indispensable tools for the diagnosis, subclassification, and management of these conditions. Techniques based on next-generation sequencing (NGS), including targeted gene panels, whole-exome sequencing (WES), and whole-genome sequencing (WGS), have significantly expanded our understanding of pathogenic variants and facilitated the discovery of novel gene-disease associations. In addition to their diagnostic utility, these tests play a critical role in genetic counseling, carrier detection, assessment of therapeutic eligibility, and recruitment into clinical trials. Despite their growing clinical relevance, genetic tests raise complex ethical challenges. Predictive and prenatal testing—especially in disorders for which no effective treatment currently exists—pose dilemmas related to autonomy, confidentiality, informed consent, and distributive justice. Furthermore, disparities in access to emerging gene-based therapies, the application of testing in minors and unborn individuals, concerns surrounding the privacy of genetic data, and the obligation to recontact patients when new clinically significant information becomes available represent key areas of ethical concern. These issues underscore the need for well-defined policies and multidisciplinary approaches to ensure ethically responsible integration of genetic testing into ophthalmic care.