Comment

Abstract

Shostak and Ottman's article highlights the need for discussion and research on this important but complex issue. There are numerous biological, clinical, diagnostic, social, ethical, and legal aspects to examine, to understand how genetic testing can impact on individuals and families with epilepsy. Based on our experience over the last decade of applying recent discoveries to the clinical care of our patients, we believe the authors overemphasize the negative issues of genetic testing, suggesting it will exacerbate stigma and negative perceptions held by society. We wish to balance this discussion by emphasizing the significant medical, personal, familial, and social benefits that can result from genetic testing. In addition, many of the concerns raised in the article relate more to the realization that epilepsy may have a genetic basis than to the testing itself. At present, genetic testing is only possible for the small proportion of epilepsy syndromes that are single gene disorders; it can confirm a diagnosis, provide information regarding the risk to other children, and allow optimization of treatment. Importantly, confirmation of a diagnosis through genetic testing may render other invasive or expensive tests unnecessary. Finality in understanding the diagnosis and the cause enables families to constructively deal with the problem, rather than continuing the search for “answers.” In reality, families often seek out and welcome information about the genetic nature of their or their child's epilepsy. As highlighted by Shostak and Ottman, many families want to know why epilepsy has occurred. A positive test result, even without treatment implications, often gives them greater peace of mind. Similarly many parents blame themselves for their child's seizures, attributing them to an action or event that took place during pregnancy or infancy such as injury or vaccination. Understanding that the seizures have a genetic cause can allow parents to release this burden of guilt. Shostak and Ottman highlight the benefit that patients derive from understanding that they can control their seizures by lifestyle factors. This does not detract from the need to educate patients and families about the difference between the biological cause of their epilepsy and the triggers for their seizures. Emphasis on a spurious cause is unlikely to be helpful and reinforces long-standing myths surrounding epilepsy held by the community. Before genetic testing is offered, the individual or family concerned must appreciate that their epilepsy may have a genetic cause. Shostak and Ottman suggest that genetic testing compounds the stigma already associated with epilepsy, as epilepsy may be seen as an integral and enduring part of the person, and it may lead to other family members being affected by “courtesy stigma.” However, these social implications are associated with the realization that epilepsy is a familial condition, rather than with the actual result of gene testing. It is therefore essential to separate these two processes when evaluating the impact genetic information may have. Educating patients about the biology and genetics of epilepsy is critical if we are to prevent them from developing spurious belief systems. This will also lay the foundation for understanding the results of gene tests. Care needs to be taken to ensure families, who are desperate for an answer as to why their child has seizures, are not exploited and do not spend large amounts of money on irrelevant tests. This is where ethical guidelines are urgently needed to inform clinicians how, when, and by whom the tests should be ordered, and to clarify the role of genetic counseling. Individuals and families need to understand the genetic aspects of their disease, well before seeking a genetic test. Genetic tests offer tangible positive psychological and social outcomes, which are important considerations not to be dismissed in the development of genetic guidelines.