“Why should we get the test?”
Cassie’s mother was not convinced that we should test her daughter for genetic mutations that could cause epilepsy. In class at school, Cassie (whose name I’ve changed for privacy) had a generalized tonic-clonic seizure that lasted for 20 minutes. The next week, she started to have smaller seizures several times a day.
I am a pediatric neurologist, and every year we see more than 1,500 children with new epilepsy in our clinics and in our hospital. For Cassie, the important steps to understand and treat her epilepsy were to order an electroencephalogram – or an EEG; to get a brain MRI scan and to test for genetic mutations. We started Cassie on lamotrigine, a very effective and safe anti-seizure medicine.
These decisions about how to take care of Cassie result from cumulative learning and the passing on of information from one generation to the next. Sometimes the chain of knowledge gets lost.
Our current knowledge about epilepsy diagnosis and care; and the field of medicine in general; are guided by the scientific method, one of the great triumphs of the Enlightenment, an 18th century intellectual movement that emphasized reason over superstition. The scientific method holds that we can learn facts and make hypotheses about ourselves and our world; and critically, that the hypotheses are testable.
Our newest tool for epilepsy is genetic testing. Several months after her first seizure, we did genetic testing for Cassie and found that she had a mutation in the SCN1A gene. The SCN1A gene works in the neurons of the brain to maintain a normal electrical balance. It turns out that lamotrigine is not a good choice for people who have SCN1A mutations and can worsen seizures over time. We stopped the lamotrigine and started a different medicine (clobazam). The genetic testing was critical for Cassie’s treatment.
This power to understand and treat diseases like epilepsy is a triumph of our biomedical enterprise; which is an accomplishment of our society, guided by the values of the Enlightenment.
These values are under threat from both commercialism and sciolism.
Commercialism — or the belief that financial profit is valued above all else — is corrupting our society’s ability to provide equitable care. When I meet with families in my clinic, I have to ask what their insurance is, because I know that, for some, it will be difficult or impossible for them to afford the genetic testing or afford the best medicine.
Sciolism — or the arrogance of absolute certainty — leads to being convinced of something in the absence of actual knowledge. For example: Some of the families I work with are afraid to start an anti-seizure medicine for their child, or to get genetic testing, after reading about risks or misinformation on the internet. Anti-seizure medicines work very well and, as in Cassie’s case, genetic testing is important. It is a much bigger risk to a child, by a considerable amount, to not be treated or tested. There are, of course, definite limits of knowledge, and the potential for problems — even if very rare. But the reality is that physicians and scientists provide true expertise that can prevent disease and save lives.
What we need is a “re-Enlightenment.”
The re-Enlightenment should incorporate dedication to the scientific method and valuing of the universal rights of a person, aspects missing from the original Enlightenment. People from disadvantaged and overlooked groups must be part of the discourse; and the importance of the spiritual can not be discounted. Policy decisions need to incorporate true equality of opportunity — including housing, health care and financial stability — for all persons, whether they are a university professor, a school teacher or a janitor.
The accomplishments of the Enlightenment are real, and we can take those best approaches and best values in a re-Enlightenment. We need a shared commitment that agrees upon rationality and a scientific approach for taking care of our children; that values our humanity and all of its members. The stakes are too high and too important to not take this on.
(Photo courtesy of Josh Bonkowsky) Josh Bonkowsky
Josh Bonkowsky, MD, PhD, is a professor of pediatrics at the University of Utah and director of the Center for Personalized Medicine at Primary Children’s Hospital. The views expressed here are his own and do not necessarily reflect those of his employer.
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