Association of No-Cost Genetic Testing Program Implementation and Patient Characteristics With Access to Genetic Testing for Inherited Retinal Degenerations

Abstract

Inherited retinal degenerations (IRDs) are a clinically and genetically heterogeneous group of visually debilitating disorders affecting more than 200 000 individuals in the US and millions worldwide.¹ Clinical genetic testing is an integral part of providing care for individuals with IRDs, giving a specific molecular diagnosis.^2,3 Testing may also provide relatives or prospective parents with actionable prognostic information and identify novel genetic variants to advance disease understanding.⁴ In addition, testing allows access to clinical trials. Except for Leber congenital amaurosis caused by pathogenic variants in RPE65, treatments addressing the genetic cause of disease have not yet been developed.⁵ Genetic testing is required for individuals to enroll in numerous clinical trials, including those for Stargardt disease (ABCA4), X-linked retinitis pigmentosa (RPGR), retinitis pigmentosa and Usher syndrome type 2 (USH2A), achromatopsia (CNGA3 and CNGB3), and choroideremia (CHM).