Summary
Inherited retinal diseases (IRDs) are a genetically heterogeneous group of disorders historically considered untreatable. Recent advances in gene therapy and molecular characterization of IRDs have expanded opportunities for genes specific interventions and clinical trial enrollment. We evaluated the utility of using a next generation sequencing (NGS) panel to identify IRD patients who may qualify for such targeted therapies. Genetic testing results from 18,026 individuals consecutively tested using an IRD-related panel were retrospectively analyzed. A positive result was identified in 50.8% of patients, with an additional 5.4% of individuals having a variant of unknown significance favoring pathogenic. Among the 214 implicated genes, 14 currently have genes pecific therapies or associated clinical trials. For every 5 patients with a positive result, 2 had findings in the actionable genes with variants in ABCA4, RPGR, and exon 13 of USH2A being most common. These findings demonstrate that NGS based testing frequently identifies IRD patients eligible for emerging therapeutic or interventional trial options.
Authors:
Kimberly Gall, Ka-Yan Mak, Julie Hathaway, Alicia Scocchia, Kati Kämpjärvi, Kirsty Wells, Johanna Känsäkoski, Pernilla von Nandelstadh, Raquel Perez, Marta Gandia, Sanna Vattulainen-Collanus, Mari-Liis Mikk, Brenda Valeiras, Mikko Muona, Inka Saarinen, Sari Tuupanen, Juha Koskenvuo