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Peer-reviewedCC BY 4.0Genetics in Medicine Open

Recommendations for the re-analysis of existing genomic data from patients with epilepsy

  • Alan J. Robertson1,2,3,4
  • Natalie B. Tan5,6,7
  • Pei Dai8,9,10
  • Carmen Bennett11,12
  • Clair Sullivan1,3,13
  • Zornitza Stark7,14,15
  • Lata Vadlamudi11,12
  • Nicola Waddell1,2
15 affiliations
  1. 1Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia
  2. 2Medical Genomics Group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia
  3. 3Queensland Digital Health Centre, University of Queensland, Brisbane, QLD, Australia
  4. 4Sullivan Nicolaides Pathology, Brisbane, Australia
  5. 5Murdoch Children’s Research Institute, Parkville, VIC, Australia
  6. 6Department of Paediatrics, Melbourne Medical School, The University of Melbourne, Parkville, VIC, Australia
  7. 7Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia
  8. 8Precision Immunology Program, Garvan Institute of Medical Research, Sydney, NSW, Australia
  9. 9Department of Immunology, Nepean Hospital, Sydney, NSW, Australia
  10. 10Virtus Diagnostics, Sydney, NSW, Australia
  11. 11Frazer Institute, The University of Queensland, Brisbane, QLD, Australia
  12. 12Department of Neurology, Royal Brisbane & Women's Hospital, Brisbane, QLD, Australia
  13. 13Metro North Hospital and Health Service, Department of Health, Queensland Government, Brisbane, QLD, Australia
  14. 14Australian Genomics, Melbourne, VIC, Australia
  15. 15University of Melbourne, Melbourne, VIC, Australia
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Abstract

Genomic testing is being recognized as an integral part of the management of individuals with epilepsy. However, despite the increasing utility of genomic testing in epilepsy, a substantial proportion of patients who are suspected to have a monogenic cause do not receive a molecular diagnosis. Reanalyzing existing genomic data increases the molecular diagnostic yield over time. As our understanding of the molecular components of epilepsy is changing faster than that of many other conditions, the re-analysis of existing genomic data from patients with epilepsy holds considerable potential for improving diagnostic outcomes.

Given the complexity involved in the re-analysis of existing genomic data, neurologists may be unsure how to best incorporate this into their clinical practice following an initial uninformative genomic result. Here, we describe recommendations specifically designed to guide the re-analysis of existing genomic data for individuals with epilepsy with an unknown etiology. We synthesize current evidence and apply these findings to the specifics of genetic epilepsy to determine the best approaches to integrate re-analysis into clinical practice in a sustainable manner that maximizes benefits to patients.

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Cite

BibTeXRIS
BibTeX
@article{robertson2026recommendations,
  title = {{Recommendations for the re-analysis of existing genomic data from patients with epilepsy}},
  author = {Alan J. Robertson and Natalie B. Tan and Pei Dai and Carmen Bennett and Clair Sullivan and Zornitza Stark and Lata Vadlamudi and Nicola Waddell},
  journal = {Genetics in Medicine Open},
  year = {2026},
  month = sep,
  doi = {10.1016/j.gimo.2026.104494},
  url = {https://doi.org/10.1016/j.gimo.2026.104494},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Recommendations for the re-analysis of existing genomic data from patients with epilepsy
AU  - Alan J. Robertson
AU  - Natalie B. Tan
AU  - Pei Dai
AU  - Carmen Bennett
AU  - Clair Sullivan
AU  - Zornitza Stark
AU  - Lata Vadlamudi
AU  - Nicola Waddell
PY  - 2026
DA  - 2026/09/10
JO  - Genetics in Medicine Open
DO  - 10.1016/j.gimo.2026.104494
UR  - https://doi.org/10.1016/j.gimo.2026.104494
AB  - Genomic testing is being recognized as an integral part of the management of individuals with epilepsy. However, despite the increasing utility of genomic testing in epilepsy, a substantial proportion of patients who are suspected to have a monogenic cause do not receive a molecular diagnosis. Reanalyzing existing genomic data increases the molecular diagnostic yield over time. As our understanding of the molecular components of epilepsy is changing faster than that of many other conditions, the re-analysis of existing genomic data from patients with epilepsy holds considerable potential for improving diagnostic outcomes.  Given the complexity involved in the re-analysis of existing genomic data, neurologists may be unsure how to best incorporate this into their clinical practice following an initial uninformative genomic result. Here, we describe recommendations specifically designed to guide the re-analysis of existing genomic data for individuals with epilepsy with an unknown etiology. We synthesize current evidence and apply these findings to the specifics of genetic epilepsy to determine the best approaches to integrate re-analysis into clinical practice in a sustainable manner that maximizes benefits to patients.
SN  - 2949-7744
ER  -