Purpose: Gene-specific treatment of inherited retinal dystrophy (IRD) is under development and identification of the causative genes for the condition is helpful for selecting treatment options in the future. Additionally, determining the inheritance pattern by identifying the causative gene provides useful information for patients and their family members. This study examined the usefulness of the clinical flow by performing comprehensive gene panel testing, an advanced medical care, and providing the results.
Subjects and methods: Genetic counseling was provided to 101 patients with IRD at two facilities in Japan, and blood was collected from 100 patients who requested genetic testing. We extracted DNA from the blood samples and analyzed 82 disease-causing genes. The analysis results and the patients' clinical symptoms were examined by an expert panel, with the aim of proposing a treatment plan including identification of the causative gene and low vision care.
Results: The identification rate of the causative gene was 41.0%, and the rate increased to 55.0% when the cases of variant of unknown significance according to the American College of Medical Genetics and Genomics (ACMG) guidelines were included on the suggestion from the expert panel. Patient satisfaction with genetic counseling was high (98.0% and 96.0%, before test and after results disclosure, respectively), and 32 of 80 patients (40%) were able to access low vision care one year after the results were disclosed.
Conclusion: The present study suggests the usefulness of this clinical flow.
Nippon Ganka Gakkai Zasshi (J Jpn Ophthalmol Soc) 128: 305-310,2024.