Why genetic testing for inherited retinal disease (IRD) matters
Knowledge is power
Anyone with an IRD should consider genetic testing. Genetic testing may be able to identify the mutated gene or genes responsible for your vision loss. Armed with this important information, you and your doctor can determine the best course of action for your disease and discuss whether clinical research might apply to you.
If you were tested a few years ago and you didn’t receive a conclusive result—or received a negative one—think about getting tested again. Genetic tests have improved, research is advancing, and a person may learn more from a newer test, especially with the identification of new genes.
- Genetic testing is for anyone with an IRD or a suspected IRD.
- Identifying a genetic cause may benefit IRD management.
- It is important to share information with family members.
Benefits of genetic testing for IRDs
When you identify and understand the gene mutations responsible for vision loss, you may open up new possibilities for yourself and your family.
There are more than 270 genes known to cause these IRDs, and the availability of genetic testing has opened doors and brought information and clarity to many living with one of these rare eye diseases. Today there are more than 100 recruiting, enrolling, or active clinical studies for IRDs on ClinicalTrials.gov, the national resource housing information on all clinical studies across the country. The more patients and the medical community know about specific gene mutations, the faster clinical trials may progress.
Because of this, everyone with an IRD or suspected IRD should declare “Eye Want 2 Know” and pursue genetic testing. Identifying and understanding the changes in your genes (mutations) that are responsible for vision loss is the first step in opening up new possibilities for yourself and your family.
These benefits include:
Providing you and your family with more information to help you better manage your IRD
Determining with your doctor the best management plan for your IRD
Connecting with others in the community or joining IRD-specific advocacy groups
Focusing your search for gene therapy clinical trials or natural history studies—now, or in the future
Genetic testing: a family matter
“Just knowing what specific, accurate diagnosis a patient has can make a huge difference in how they think of their disease. Genetic testing provides answers, not only for patients but for their family members too. Many of my patients want to be tested so that they can be more sure of the inheritance pattern,” says Dr. Dawn DeCarlo, a professor and director of a low vision rehabilitation center. Hear more from Dr. DeCarlo.
This grandfather and grandson were both diagnosed with retinitis pigmentosa as young boys. The difference in their experiences, however, is measured by more than years.
Start the conversation with your family
Talk to your family about your decision to pursue genetic testing—and options available to them as well.
If you or a family member has an IRD, a genetic test is the only way to know exactly which genetic mutation or mutations are involved, which can help you better address health issues related to that mutation(s).
- A genetic test may help you and your family members plan for the future.
- Identifying a specific genetic mutation may help you and your family members find clinical trial opportunities to help advance research.
- A genetic test may help you and your family members gain access to supportive educational and social services.
- Knowing the mutation that causes an IRD may help you and your family members connect with others living with the same type of vision impairment.
Are you ready to talk about genetic testing?
Download information about topics you might want to discuss with your family.
Tips for discussing genetic testing for IRDs with your family
- Talk with your family about your interest in genetic testing, and why you want to learn more or are ready to get tested.
- Communicate facts about genetic testing, the process, and how the knowledge may benefit you and your family.
- Ask questions about family medical history related to vision loss that may provide background for your healthcare professional or genetic counselor.
- Ask if any other family members—of any age—with vision loss are interested in pursuing genetic testing and offer to support them in navigating the process or connect them to additional resources.