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Genetic testing in adults with epilepsy

Genetic testing benefits are also significant for epileptic patients in their adulthood. Studies reported a diagnostic yield similar to pediatric cases. Smaller gene panels miss many causative outcomes. Although therapeutic improvements from genetic findings in adults are limited, they can be relevant for some patients. Genetic testing also offers valuable insights for genetic counseling, benefiting patients and their families.

Genetic testing has become a routine part of the diagnostic workup in children with early onset epilepsies. We highlight the diagnostic yield and explore the gain of personalized treatment approaches in adult patients. Johannesen et al. (1) investigated a cohort of adults with severe epilepsy and comorbid intellectual disability (ID). Gene panel screening had a diagnostic yield of 23%. Borlot et al (2) found a genetic cause in 22% of adults with epilepsy and ID using an epilepsy gene panel. The diagnostic yield of these studies is comparable to previously reported pediatric cohorts. According to Brauchtisch et al. (3) gene panels with ≤511 genes miss a significant number of causative genes in adult patients with epilepsy and intellectual disability that is way either large gene panels or exome sequencing should be used to increase the diagnostic yield in this cohort. While the diagnostic yield is relevant, the therapeutic outcomes and overall improvement in the patients' clinical conditions were still somewhat limited. Nevertheless, for those patients who experienced a change in treatment due to their genetic findings, the impact was substantial (1). Looking ahead, precision medicine is expected to expand to include many more genes, enhancing the relevance of genetic testing in adults.< Additionally, genetic testing in adults provide valuable insights into the natural history of the disease, which are crucial for genetic counseling of patients and their families, even when the patient has reached adulthood. Therefore, guidelines supporting genetic testing in adults with epilepsy are warranted.

 

Key Points:

  • Routine diagnostic testing is relevant non only in children, but also in adults with epilepsy
  • NGS approaches should be considered in adults with epilepsy
  • Genetic findings could be useful for therapeutic decision making, which may lead to better seizure control, ultimately improving quality of life

References:

  1. Johannesen KM, Nikanorova N, Marjanovic D, et al. Utility of genetic testing for therapeutic decision-making in adults with epilepsy. Epilepsia. 2020;61:1234–1239.
  2. Borlot F, de Almeida BI, Combe SL, Andrade DM, Filloux FM, Myers KA. Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability. Epilepsia. 2019;60(8):1661–9.
  3. Von Brauchitsch S, Haslinger D, Lindlar S, Thiele H, Bernsen N, Zahnert F, Reif PS, Balcik Y, Au PYB, Josephson CB, Altmüller J, Strzelczyk A, Knake S, Rosenow F, Chiocchetti A, Klein KM. The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing. Epilepsia Open. 2023 Jun;8(2):497-508. doi: 10.1002/epi4.12719. Epub 2023 Mar 17. PMID: 36896643; PMCID: PMC10235558.

Publish on behalf of the Scientific Panel Epilepsy

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