Diagnoses like developmental delay, autism spectrum disorder, or muscular dystrophy are labels to describe symptoms. A genetic diagnosis can help pinpoint what is causing your or your child’s symptoms, what potential treatments exist, whether there could be any other health issues related to the diagnosis, and let you know what the chances are of other family members being at risk for the same disorder.
Finding a genetic cause often has value for families because it answers the hard question: why? However, beyond that answer, there are several practical benefits to a genetic diagnosis.
Early intervention gives therapies the best chance for success
For both children and adults, a genetic diagnosis may help qualify them for increased services or coverage of additional therapies or treatments
Expanded management and treatment options
Some genetic conditions are associated with risks for future medical problems-a genetic diagnosis can help you know how to watch for or prevent symptoms
Access to clinical trials or targeted therapies
You or your child may qualify for clinical trials testing new treatments for certain genetic conditions, and there may be other medical interventions and therapies for the diagnosis
Support groups and resources
A genetic diagnosis may give your family the chance to connect with others who have the same condition and establish a community that provides additional support and knowledge