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This article is from NEJM Journal Watch
One Step Closer to Precision Medicine in Epilepsy
Epilepsy is one step closer to precision medicine
Reviewed by Tanya J.
W.
McDonald, MD, PhD
A questionnaire study provides important real-world evidence that for most children and adults, making a causative genetic diagnosis influences the epilepsy treatment regimen used by healthcare providers, which in turn improves seizure outcomes
.
in genetic counseling by a qualified medical practitioner (HCP).
At the same time, McKnight and colleagues sought to answer the question of whether making these genetic diagnoses was associated
with changes in clinical treatment options and subsequent outcomes for epilepsy.
They asked 1567 HCPs who received genetic diagnosis results from polygenic panels over a four-year period to complete an online case report form that included clinical information, treatment changes made as a result of the test results, and patient outcomes
.
Of the 3,572 patients who made genetic diagnoses, HCP filled out case report forms
for 418 people.
Between HCP patients who filled out the case report form and those who did not, 7 out of 10 genes that produced the most genetic diagnoses were identical, and the proportion of genetic diagnoses that changed treatment regimens was similar
.
Half of patients (208) had changes in treatment regimen, including medication changes, specialist referral, or close monitoring
.
Of the remaining patients, most are already receiving appropriate treatment related to genetic testing results, or genetic information can guide future treatment
.
Among the patients with the change in treatment regimen, 108 had fewer seizures; The seizures disappeared in 72 people
.
comments
Nearly 90 percent of seizures occur for the first time in infancy, and these results support the high diagnostic rate
of genetic testing in young children.
They also give a reduction in the number of seizures in real-world children and adults, thus expanding the evidence on the impact of genetic diagnostics on key treatment decisions (Epilepsia 2022; 63:375）
。 The cross-sectional design of the study limits causal inference, and the population assessed included only those who made the genetic diagnosis of the disease
.
Future studies require longer-term follow-up and include control groups of people with epilepsy who have not been diagnosed by genetic testing to further elucidate the effect of
genetic testing on outcomes for people with epilepsy.
Articles that were commented on
McKnight D et al.
Genetic testing to inform epilepsy treatment management from an international study of clinical practice.
JAMA Neurol 2022 Dec 1; 79:1267.
(https://doi.
org/10.
1001/jamaneurol.
2022.
3651)
A collection of NEJM journals
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.
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