In the journal Epilepsia (2010, volume 51, page 655) Ottman and colleagues review genetic testing for epilepsy, on behalf of the International League Against Epilepsy Genetics Commission. Many types of epilepsy have an inherited susceptibility component and at least 20 genes have been identified that play a role in such susceptibility. Should people with epilepsy or their asymptomatic relatives be tested for these? The answer is not “yes” or “no,” because the issue is complex. A first question is whether testing is accurate. Clinical medical laboratories are supervised by government authorities, but that is not always true for private laboratories performing direct-to-consumer testing.

Second, will the information remain private or might your insurance company or employer use the information to raise your insurance rates or terminate your employment? In the US, the Genetic Information Nondiscrimination Act of 2008 prohibits discrimination based upon genetic test results, but experience with this law is limited.

The third question is whether knowledge of a genetic problem is useful? In general, the genetic diagnosis does not yet lead to cure of the condition, although this may change in the future as we learn how to apply the technology of gene transplants and therapy. Some find information about an incurable disease or tendency to be disturbing rather than helpful. Others want to know. Accurate diagnosis can have positive benefit in terms of eliminating need for other costly or risky diagnostic testing. It can provide prognostic information about likely future course and serve as a basis for family genetic counseling. Lastly, genetic testing is expensive and it is not always reimbursed by insurance.

In summary, genetic testing is not for everyone with epilepsy. Done in a reputable laboratory, testing is accurate and may provide some answers. The value of testing depends upon the type of epilepsy syndrome that you have, and whether you undergo testing should be an individualized decision by you and your doctor.