Benefits of Genetic Testing:
There are potential benefits to knowing the underlying genetic cause of a person’s IRD. It may help confirm or refine a diagnosis. Knowing the mutated gene can help a person understand how the disease may affect their vision during their lifetime. It can also guide the testing of family members to identify those at risk of inheriting the condition. Knowing the genetic defect may help people qualify for clinical trials and inform them about which future therapies may be of benefit.
At the same time, the information revealed from a genetic test may not be immediately helpful to an individual or family. In some cases, the knowledge might create anxiety for some family members.
It is very important to remember, however, that a genetic test may not reveal the defective gene, which can be frustrating for a patient and their family. Today it is recommended to repeat genetic testing every 5 years due to the evolution of research in this area.
It is an important part of caring for IRD patients to have the full discussion about genetic testing and offer this in your practice.