How Are Variant Annotations Used in Clinical Practice?
In clinical practice, variant annotations are used to: 1. Diagnose Genetic Disorders: Identifying pathogenic variants can confirm a clinical diagnosis, helping in the management of conditions such as cystic fibrosis, Duchenne muscular dystrophy, and various inborn errors of metabolism. 2. Guide Treatment Decisions: Understanding the genetic basis of a disorder can guide treatment choices, such as enzyme replacement therapy for certain metabolic conditions. 3. Predict Disease Risk: Annotations can help in predicting the risk of developing certain conditions, allowing for preventive measures and early interventions. 4. Family Planning: Knowledge about genetic variants can inform reproductive decisions and genetic counseling for families.
