Five questions. We are now part of the new Genetics Commission of the International League Against Epilepsy (ILAE), as we already indicated in an earlier post. Here’s what you can expect from the Commission over the course of the next four years.
What are the primary goals of the Genetics Commission? The International League Against Epilepsy (ILAE) is the main organization of health care professionals and researchers in the field of epilepsy. The mission of the ILAE is to advance and disseminate knowledge about epilepsy, to promote research, education and training, to improve services and care for patients, especially by prevention, diagnosis and treatment. The role of the Genetics Commission is to apply this mission to the genetic aspects of the epilepsies.
What were the main accomplishments of the previous Commission? The term of the last Genetics Commission occurred during the advent of next generation sequencing studies, which resulted in an explosion of gene findings in the epilepsies. Accordingly, genetics became more complicated. The previous Commission had three main initiatives that defined the last term.
(#1) Improving genetic literacy of the ILAE members. The Commission supported the EpiGAD website, which collected the results of epilepsy-related association studies. Also, the Commission issued a consensus statement on SCN1A testing, the most prominent epilepsy gene to date.
(#2) Develop information sources for the public. The Commission has generated an official brochure that is available on the ILAE website (“Things you want to know”). A Spanish translation will be available soon.
(#3) Facilitate international efforts to understand the basis of complex epilepsies. The Genetics Commission has helped to coordinate the ILAE Consortium on Complex Epilepsies. Currently, 10,000 patients samples have been collected and are currently analyzed.
What are some of the activities or projects being planned in the coming term?
(#1) Genetic literacy. In addition to continuing the activities above, the new Commission aims to issue a genetic literacy series in Epilepsia, which is aimed at improving the knowledge about epilepsy and genes using a clearly outlined didactic strategy.
(#2). ILAE Genetics Blog/Epilepsiome. The Channelopathist will be transitioned into the official blog of the ILAE Genetics Commission. This transition has already been approved by ILAE. The blog will be supported by a web knowledge base on epilepsy genetics, which is currently being conceptualized (code name “Epilepsiome”, more on this in a later post).
What are the main challenges that you envision you will face with the planned work?
(#1) Increasing complexity. The amount of genetic data produced increases everyday. However, in contrast to other fields of science we haven’t really embraced the concept of big data yet. It is important to make sure that data is accessible, searchable and that we are not getting lost in the river of rare variants. It would be ideal if efforts to curate genomic data on epilepsy could be indicated to and possibly coordinated by the Commission.
(#2) Increasing reluctance. High throughput genomics results in an information overload. It is already perceptible that the complexity of genetic data in the epilepsies may lead to a basic reluctance to use these diagnostic tools. We feel that it is our task to increase genetic and genomic literacy to enable health care providers to apply the diagnostic tools.
(#3) The diagnostic transition. Hopefully, the term of the current commission will witness the beginning of the era of precision medicine, i.e. epilepsy treatment based on gene findings. This might be particularly relevant to the epileptic encephalopathies, but might also apply to a broader range of epilepsies. The Commission may want to take on the responsibility to issue guidelines for these studies.
Who is part of the Genetics Commission? The following clinicians and scientists are part of the 2014-2017 Genetics Commission: Dan Lowenstein (Chair, USA), Sam Berkovic (Past Chair, Australia), Helen Cross (UK), Peter De Jonghe (Belgium), Alica Goldman (USA), Ingo Helbig (Germany), Yuwu Jiang (China), Mitsuhiro Kato (Japan), Heather Mefford (USA), Steve Petrou (Australia), P Satish Chandra (India), Nigel Tan (Singapore).
This post authored by Ingo Helbig and approved by the ILAE Genetics Commission.