Isabel Haviland, MD, and Heather Olson, MD, Boston Children’s Hospital, Boston, MA, discuss their research regarding the impact of genetic diagnosis on medical management in pediatric epilepsy. A cohort of 152 children with infantile or childhood-onset epilepsy participated in the study, all with an epilepsy gene panel or exome test included in their diagnosis. Their medical records were reviewed and classified based on 4 categories: care coordination, treatment, diagnostic testing, and change in prognosis. It was demonstrated that in over 70% of cases, genetic diagnosis had a significant impact on medical management. Almost 50% had an impact on care coordination, including specialist referral or diagnostic monitoring for disease-associated features. In 45% of cases, genetic diagnosis had an impact on treatment, such as choice of antiseizure medication, access to gene-specific clinical trials, and use of pathway-driven off-label medical medications. Additionally, 30% of individuals had a change in their prognosis. The significance of genetic testing indicated in this study supports its utilization in the standard evaluation for patients with unexplained pediatric epilepsy. Dr Olson briefly examines the developments in gene therapy, such as disease-modifying and disease-specific small molecules, and considers the current limitations of genetic testing for further improvement. This interview took place at the American Academy of Neurology 2022 Congress in Seattle, WA.
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