Rapid genome sequencing can detect rare genetic diseases within weeks of birth. 

Researchers from the Murdoch Children's Research Institute have used rapid genome sequencing to diagnose infantile epilepsy and improve treatment outcomes for affected babies. 

The technology shows remarkable efficacy in detecting rare genetic diseases within weeks, marking a significant stride forward in paediatric healthcare.

Infantile epilepsy, characterised by recurrent and unprovoked seizures, often leads to profound developmental and cognitive delays. Most forms of this condition have a genetic origin. 

The study, conducted as part of the International Precision Child Health Partnership (IPCHiP), focused on 100 infants with new-onset epilepsy from Australia, Canada, the UK, and the US. 

Rapid genome sequencing, unlike more targeted genetic tests, lays out an individual’s entire genetic code, offering a comprehensive view that can reveal even subtle DNA alterations contributing to a medical condition. 

Given that over 800 different genetic factors underlie infantile epilepsy, many of which manifest similar symptoms in infancy, this all-encompassing approach could prove invaluable.

The results so far have been striking. 

Rapid genome sequencing achieved an impressive diagnostic rate of 43 per cent for infantile epilepsy cases. Even more compelling, over half of the diagnosed infants experienced a substantial shift in their treatment plans as a direct result of the genetic insights gleaned. 

The full study is accessible here.