Clinical genetic testing of IRD not straightforward

Researchers analyzed data on targeted genetic panel testing for IRDs offered by different labs to determine the number of disease genes tested as well as how often both coding and non-coding variants of disease were included.

There were 409 unique genes represented in the 3 IRD panel tests included in this analysis. Researchers determined that 269 genes were tested by all 3 panels, including the 20 genes that are known to cause >70% of all IRDs. Across the 3 panels, there were 138 non-coding variants analyzed in 50 unique genes.

Among the 5 focused disease-specific panels that were analyzed, there was significant variability.

The authors emphasized the importance of panels including both coding and non-coding regions in IRD genes to ensure a diagnosis.

“In a time of increased importance for clinical genetic testing of IRD patients, knowledge of the proper test to order is paramount,” they concluded.

Reference
Mustafi D, Hisama FM, Huey J, et al. The current state of genetic testing platforms for inherited retinal diseases. Ophthalmol Retina. 2022;S2468-6530(22)00111-7. doi: 10.1016/j.oret.2022.03.011. Epub ahead of print. PMID: 35307606.