How do you decide when to obtain genetic testing for suspected autoinflammatory conditions in adults?   

We have identified an autoinflammatory disorder that occurs in people of the Southern Appalachian mountains known as "Melungeons." Several have been evaluated at NIH, and while they do not have any of the known markers the diagnosis of familial Mediterranean fever has been confirmed. Dr. Kastner tol...

This is a great question! Unfortunately, studies show that most patients (60%) with clinical diagnoses of autoinflammatory diseases do not have a genetic diagnosis, even when extensive testing is performed. This means that genetic testing is not helpful for most patients. The reasons for the lack of...