Rare diseases are a group of diseases that are less common than the general population, mostly have a genetic origin and mostly affect children. Although there are millions of people with rare diseases in our country and in the world, the patients who have the most difficulty in diagnosis due to the variety of symptoms and variation from person to person, and insufficient information available for some of these diseases are included in this group. It is thought that half of people with rare diseases do not get a definitive diagnosis. In some cases, it may take many years to reach the right physician and the correct diagnosis method, or patients may not be able to access the treatment and care they need due to misdiagnosis.
What Uses Genetic Diagnosis in Rare Diseases?
- It can ensure that patients are directed to appropriate treatments and clinical trials.
- It can provide information about the course of the disease, which symptoms can be seen in which time period. Thus, it helps to take precautions before some symptoms appear.
- It enables the identification of family members who are at risk of being affected by the genetic change that causes the disease.
- In cases where pregnancy is planned, it gives information about the risk of the child to be born with a rare disease.