Inherited Retinal Disease

Most patients with IRDs get genetic testing for their relatives’ benefit

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Most patients diagnosed with inherited retinal diseases (IRDs) opt to undergo genetic testing to gather information for their relatives, according to a study.

Researchers asked 132 patients diagnosed with IRDs treated at an Italian clinic to answer a 12-item questionnaire.

Of the 104 patients who said they were told about the possibility of undergoing genetic testing, 94 of them did, with 93.6% having been told about the advantages and limitations of genetic testing.

Most patients said they underwent testing to gather information for their relatives. Most also believed that undergoing genetic testing could help “aid medical research in the search for a treatment for IRDs.”

Amongst those who did not undergo testing, the most common reason was not having someone who encouraged them to do so.

The researchers concluded that both patients and healthcare professionals should be educated on the importance of genetic testing for IRDs.

Bottazzi L, Antropoli A, Bianco L, et al. Understanding the propensity to undergo genetic testing in patients affected by inherited retinal diseases: a twelve-item questionnaire. Ophthalmic Genet. 2022;doi: 10.1080/13816810.2022.2135111. Epub ahead of print. PMID: 36239612.