Why is genetic testing important for me?
Until now, one of the challenges for someone who has an IRD was the lack of a precise diagnosis. It’s often impossible to tell which specific type of retinal disease a patient has based on just looking at the eye, because IRDs are some of the most complicated of all genetic conditions, involving more than 200 genes. Receiving a complete diagnosis requires genetic testing. Through genetic screening of the person affected and their family members will be provided with more detailed information about the nature and inheritance pattern of the condition. An acurate genetic diagnosis is a prerequisite to participation on a clinical trail and also in accesing an appropriate therapy should one become available.
How does it work?
The researchers will use DNA sequencing to try to find the gene that is causing the condition. First they look at the outside layer which contains the known genes associated with retinal degenerations. There are approximately 200 genes known so far, and these are estimated to account for conditions in about 60% of people affected. If your gene is in this first outside layer then finding the gene is relatively straightforward. However if the gene is not found in this outside layer then further work is needed to look at your entire genome. This will take a longer time, but the technology is constantly being refined and so this may happen sooner than we expect.
What happens when they find the gene mutation causing my condition?
When a causative mutation is discovered, you will be contacted by the hospital and an appointment will be set up so that you can receive the results of your genetic tests. Information about your gene and condition will then be added to an appropriate patient registry.