In the past 20 years, there has been a dramatic increase in the discovery of genes that play a role in epileptic disorders. This has paved the way for increased clinical genetic testing of people who have epilepsy, in order to clarify the diagnosis, inform treatment, and improve prognosis. Although the availability of genetic testing has distinct advantages, it also raises complex issues, that have only begun to be considered, according to a latest paper, “Genetic testing in the epilepsies—developments and dilemmas,” by senior author Dr. Ruth Ottman, professor of epidemiology at the Columbia University Mailman School of Public Health and Columbia’s Gertrude H. Sergievsky Center. These issues include the growing importance of educating physicians about when and how to test patients, the need to ensure that affected individuals and their families can make informed choices about testing and receive support after receiving the results, and the question of what the positive and negative consequences of genetic testing will be for affected individuals, their family members, and society. The findings are published online in Nature Reviews Neurology.
However, not all epilepsies can be detected with genetic tests, and conversely, sometimes people have genetic variants associated with epilepsies while not actually showing signs of the disorder. The advantages of genetic testing include hastening and clarifying the diagnosis, assisting with reproductive decisions, and helping people to plan for the future.
While few studies have specifically addressed genetic testing from the perspective of people with epilepsy, an earlier qualitative study by Dr. Ottman and colleagues on risk perception and the perceived effects of genetic testing among research participants showed that most individuals said they would want genetic testing if it were offered. They cited many potential advantages, including learning what caused epilepsy, being able to make informed reproductive choices, reducing guilt, relieving anxiety, and having an improved ability to care and advocate for children at risk. Yet, they also expressed concern about potential negative effects of genetic testing such as external pressure to modify their reproductive choices, increased blame and guilt, increased stigma, discrimination in employment and insurance, self-imposed limitations on life goals, and alterations in public conceptions of epilepsy.
“People with epilepsy and their family members have suggested that the increasing perception of epilepsy as a genetic disorder might change the way that the condition is perceived by society at large, with potential positive and negative consequences for people with epilepsy as well as their family members,” the researchers noted.
“Genetic testing has the potential to revolutionize care for epilepsy, but we need to address the challenges involved to ensure services are delivered in the most effective, sensitive, and equitable manner possible,” said Dr. Ottman.