Prophecy or empiricism? Clinical value of predicting versus determining genetic variant functions

Andreas Brunklaus*, Alfred L. George*, Dennis Lal, Erin L. Heinzen, Alica M. Goldman

*Corresponding author for this work

Research output: Contribution to journalComment/debatepeer-review

Abstract

The recent explosion of epilepsy genetic testing has created challenges for interpretation of gene variants. Assessments of the functional consequences of genetic variants either by predictive or experimental strategies can contribute to estimating pathogenicity, but there is no consensus on which approach is best. The Special Interest Group on Epilepsy Genetics hosted a session during the Annual American Epilepsy Society Meeting in December 2022 to discuss this topic. The session featured a debate of the relative advantages and limitations of predicting (prophecy) versus experimentally determining (empiricism) variant function using ion channel gene variants as examples. This commentary summarizes these discussions.

Original languageEnglish (US)
Pages (from-to)2909-2913
Number of pages5
JournalEpilepsia
Volume64
Issue number11
DOIs
StatePublished - Nov 2023

Keywords

  • bioinformatics
  • channelopathy
  • epilepsy
  • genetics
  • validation
  • variant

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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