Improving Access to Genetic Testing for Unexplained Epilepsy

Source: Epilepsia open

Summary

In a recent study, researchers looked at how well neurologists in the United States are following new guidelines for genetic testing and counseling for patients with unexplained epilepsy. The guidelines, published by the National Society of Genetic Counselors in 2022, recommend that all patients with unexplained epilepsy should receive genetic testing, specifically using exome/genome sequencing or multi-gene panels. The study involved a survey completed by 84 neurologists who treat epilepsy, focusing on their awareness of the guidelines and the challenges they face in implementing them.

The findings showed that about half of the neurologists offer genetic testing to most or all of their patients with unexplained epilepsy, while the other half only test when they suspect a genetic cause. Most neurologists preferred using multi-gene panels for testing. However, they reported several barriers to providing genetic testing and counseling, including issues with insurance coverage, coordination of tests, limited expertise, and access to genetic counselors. Adult neurologists faced more challenges compared to those who treat children.

These results highlight the need for better insurance coverage and increased access to genetic counselors to improve genetic testing and counseling for people with unexplained epilepsy. While many neurologists are aware of the guidelines, they feel that the information is not widely shared. Addressing these barriers is important to ensure that all patients, especially adults, can benefit from genetic testing and counseling, which can lead to better understanding and management of their condition.

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