2023-08-25 11:45:00
THE ESSENTIAL
Rapid genome sequencing is a technique that looks for any changes in a person’s DNA that might explain a medical condition, in this case epilepsy, by analyzing the entire genome. Early diagnosis of childhood genetic epilepsies is an important element for appropriate care. Genome sequencing tests (genetic analyses), if they are early and rapid, reduce the stress of families caused by waiting for the results and improve the care given to the child.
A study (Gene-STEPS) published in The Lancet Neurology confirmed that performing a faster genetic diagnostic test has an impact on the detection of so-called genetic epilepsy. It facilitates the rapid implementation of appropriate treatment, thus improving the prognosis of the disease.
Genetic epilepsy: rapid tests for early diagnosis and treatment
There are different forms of epilepsy in infants (children aged 29 days to 23 months), more or less serious. When epilepsy is linked to a mutation (modification) of genes, it is called genetic epilepsy. This type of epilepsy can be detected by genetic tests carried out from birth. Unfortunately, they are not done systematically and are often incomplete (not allowing all genetic abnormalities to be detected). In addition, the wait for families to obtain the results is often long: which increases concerns.
This is why scientists have studied the feasibility and usefulness of a form of faster screening by accelerated sequencing (gene analysis) of the genome (all the genetic information contained in cells in the form of chromosomes) in newborns (from birth to 28 days) and infants (from 29 days to 2 years).
The trial, carried out between September 1, 2021 and August 31, 2022, involved 100 infants with new onset epilepsy without an identified cause. Among them were 41 girls and 59 boys from the United States, Canada, Australia and England. Blood samples were taken from young children, but also from their biological parents.
Genetic epilepsy: more appropriate care thanks to the test
Of these 100 infants, 43 presented a positive genetic diagnostic test. And the time from the onset of the seizure to the result of rapid genome sequencing was regarding 37 days. This study revealed that a significant number of genes were concerned, namely 34 for this one.
These genetic diagnoses had an immediate usefulness compared to the treatment (adapted and early management) for 24 of the 43 children; i.e. 56%), additional examinations (28 infants; 65%), improved prognosis (37; 86%) and advice on the risk of recurrence (for all cases).
The results therefore show that these rapid tests are feasible and provide important information for the family, the child and the healthcare team, particularly in relation to the various treatments to be provided, but also to the future life of the young patient and his or her surroundings.
The advantages, for infantile epilepsy, of this early and large sequencing of the whole genome are undeniable. A better understanding of the genetic variants involved in this disease would need to be deepened. And the American team also specified that a long-term follow-up of these children, their families and caregivers is necessary to assess the role of rapid genetic diagnosis in improving the symptoms of the disease, on the quality of life and economic repercussions (cost of treatment, etc.).
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