Rare Diseases & Orphan Drugs

Genetic Testing and Counseling for Rare Diseases

Genetic testing and counseling play a critical role in the diagnosis and management of rare diseases. Genetic testing can identify changes in an individual's DNA that may be responsible for causing a rare disease, allowing for early diagnosis and treatment. Counseling provides patients and their families with information about the genetic basis of the disease, its inheritance pattern, and the risks and benefits of genetic testing. It also offers support and guidance in making decisions about genetic testing and family planning. Genetic testing and counseling can improve patient outcomes by providing information for early intervention and management of rare diseases and empowering patients and families to make informed decisions about their healthcare.