New Delhi, India
Leiden, The Netherlands
New York, USA
To advise the ILAE Executive Committee on ways to support the international search for genes that raise the risk of epilepsy, to encourage genetic research that can improve epilepsy diagnosis and therapy, and to educate clinicians, individuals with epilepsy, and their families about genetic advances in epilepsy.
- To organize the search for human epilepsy genes on a worldwide scale through broad participation by members of ILAE chapters.
- To prioritize complex epilepsies suitable for multicenter collaborative gene mapping studies.
- To make the results of genetic research on the epilepsies readily accessible to clinicians.
- To improve the public understanding of genetic factors in epilepsy.
- To work with related ILAE commissions to increase understanding of newly identified genes and their role in basic mechanisms of epileptogenesis and anti-epileptogenesis.
Summary of Activities for 2004-2005
A subcommission meeting to discuss the initiation of an International Database of Human Epilepsy-Linked Polymorphisms was held at the annual meeting of the Society for Neuroscience in New Orleans, November 2004.
The Chair of the Commission organized an Epilepsy Workshop held at Rhodes University, Grahamstown South Africa in September 2004. This was formally sponsored by IBRO and the US National Academy of Sciences and included over 40 students from sub-Saharan Africa. This workshop was an unqualified success. As a result, the International Affairs Committee of the AES has launched a new African Epilepsy Fellows Program. Two students from this course were selected to become the first two Fellows (from Ghana and Uganda) and will attend the Annual Meeting of the SFN, the AES and spend a one-month training program in two American Epilepsy Centers (Harvard/Univ. of Pennsylvania). AES has provided US $20,000 in support of this program in 2005.
Two Commission members served as faculty in the International Epilepsy Summer School held in San Servolo, Italy, July 2005.
Several Commission members have taken an active role in planning the ILAE Congress in Paris and contributed to the genetics component of the Scientific Program.
Commission Meeting at the ILAE Congress in Paris
The full Commission met on 30 August 2005 at the ILAE Congress in Paris. Several proposals were reviewed, including:
- Association Study Database.
- Formation of an International Consortium on Idiopathic Inherited Epilepsies.
- Genetics Commission Website, featuring descriptions of defined clinical genetic epilepsy syndromes, as well as lists of genetic epilepsy specialists by country.
- Genetics Commission role in European Genetics of Photosensitivity Consortium.
- Genetics Commission role in Developing African Nations Initiative.
- Association Study Database. At the previous meeting in New Orleans, Sam Berkovic proposed that the Commission support the creation of a Website or other means of publishing data from genetic association studies in epilepsy as negative results are typically difficult to publish yet are of value to researchers. Sam has informed the Commission that his associate Nigel Tan, of the National Neuroscience Institute in Singapore, has been awarded financial support from the NMRC for the implementation of this project as recommended by the ILAE Commission of Genetics. The Commission will continue to assist in the development or dissemination of this bioinformatic database resource.
- International Consortium on Idiopathic Inherited Epilepsies. Ongoing efforts to establish an international consortium for data sharing in the search for informative polymorphisms associated with epilepsy.
- Regional Education. Initiatives surrounding the search for families with epilepsy. While considerably successful in the past, it was generally felt that awareness of genetics among practicing epileptologists has rapidly increased and that special format teaching sessions on family identification, sparsely attended at two previous regional meetings, were no longer a high priority for the Commission.
- Photosensitivity Project. Dick Lindhout informed us of the ongoing European collaborative project on photosensitive epilepsy. The Commission will offer assistance as requested in this unique project.
New Projects for 2006
- Creation of ILAE Guidelines for Genetic Testing. With the emergence of gene tests for many pediatric and adult epilepsy syndromes, there was unanimous enthusiasm for the Commission of Genetics to develop of a set of guidelines for genetic testing in epilepsy.
This timeliness of this project is based on a number of concerns:
- Growing awareness among general physicians, patients, and their families of the potential for acquiring critical genetic information regarding heritability, clinical outcome, and therapeutic decision making in epilepsy.
- Increasing understanding by research epileptologists that many tests have the potential to be useful, but may also be misinterpreted.
- A general lack of genetic counseling expertise among epileptologists.
- Lack of specific epilepsy expertise among genetic counselors.
- The cost of testing.
- The availability of testing.
- The fact that commercial testing firms are unregulated and, at least in the United States, are marketing directly to patients.
- The fact that commercial firms are bound by privacy and are under no obligation to disseminate results, thus depriving the research community of important genetic epidemiological data.
- The clinical complexity and overlap among diagnostic epilepsy syndromes requires expert decision making regarding who should be tested, when and why.
Members present agreed that while there are many complicated and syndrome-specific clinical scenarios that would require individualized decisions, a set of simple guidelines focused on general advice for anyone considering genetic testing in epilepsy would be extremely valuable for epileptologists, general practitioners, patients, families and support groups. This information should be made widely available to the international community.
Principles of the Guidelines
The guidelines will consist of “ten commandments”, that is, very basic advice for the physician, starting with genetic testing must be performed with the guidance of a genetic counselor. There are other general guidelines that will be written, particularly with regard to ethical concerns, an area that is not well understood even by general practitioners. For example, the 1998 World Health Organization’s Proposed International Guidelines on Ethical Issues in Medical Genetics and the Provision of Genetic Services recommends that:
- Every genetic test should be offered in such a way that individuals and families are free to refuse or accept according to their wishes and moral beliefs.
- All testing should be preceded by adequate information about the purpose and possible outcomes of the test and potential choices that might arise.
- Children should be tested only when it is for the purpose of better medical care.
Patients and physicians will benefit from learning more about the role of genetic counselors, from their Websites in different countries, such as http://www.nsgc.org/.
The goal is to assemble a concise list of ten major recommendations that will constitute the framework of the first guideline. In the future, we will extend this in specific ways with the goal of providing an essential resource for educating the professional epilepsy community.
Timeline for Guidelines Project
January-June 2006: Commission members submit suggestions for guidelines.
June-August 2006: Draft guidelines circulated for broad comment. Discuss with interested colleagues.
2006: (planned to coincide with European Epilepsy meeting in Helsinki) Commission Workshop to refine guidelines and submission for publication in Epilepsia.
2007: Commission-sponsored symposium on Guidelines for Genetic Testing in Epilepsy at ILAE Congress in Singapore.
Future Activities for 2006
Interaction with Other ILAE Commissions
The Commission of Genetics will work closely with the Neurobiology Commission to promote the experimental analysis of genetic models of epilepsy and to interface with clinical investigative programs to examine mechanisms of complex inheritance, susceptibility genes, clinical outcomes and pharmacogenomics.
The Commission will work with the Commission on Classification of the Epilepsies to ensure an authoritative integration of specific categories of inherited epilepsy into the classification scheme as this gains priority in the future.
The Commission will work closely with the Education Commission to organize a second basic/clinical epilepsy workshop in English speaking sub-Saharan Africa in two years, with support of ILAE, AES and IBRO.
Interaction with ILAE Chapters
Thirty chapters (29 ILAE and one IBE) have designated representatives to the Gene Search Program. These contacts provide opportunities for cooperation among neighboring chapters and partnerships between developed and developing countries.
Regional Workshops on the Search for Epilepsy Genes.
The commission can play a critical role by encouraging chapters with genetics programs. As in previous years (AOEC, Nagano; Joint Congress of ICNA/AOCNA, Beijing, Lisbon), didactic workshops for chapter representatives and others who wish to take an active role in finding such families with epilepsy that would be informative for gene mapping are planned.
Jeffrey Noebels, Chair