As researchers and scientists make new discoveries about genetic mutations that cause certain diseases, diagnosis is getting more accurate and treatments more personalized. A personalized treatment means that doctors can provide the right medicine at the right dose at the right time to each individual patient. Still, more than 90% of the more than 7,000 rare diseases do not have approved treatments.
Genetic testing and clinical trials (research studies) help drive research and progress forward. Some people may get a genetic test for fun or because of curiosity. But for people living with a rare disease, genetic testing can provide answers that can change their treatment and help identify what clinical trials may be available for them.