New Zealand doctors and scientists used high-speed genetic testing to diagnose the illness of a critically-ill baby.
A study published in the American Journal of Medical Genetics shows how rapid whole genome sequencing was used to diagnose the rare disease of a baby in neonatal intensive care at
Auckland City Hospital.
Within 72 hours, the results showed a genetic mutation linked to an extremely rare disease called Baraitser-Winter
syndrome, which affects the development of many parts of the body, including the face and the brain.
“Fewer than 100 cases of the disease have been reported worldwide and sadly Baraitser-Winter syndrome is not curable,”
said Professor Frank Bloomfield, director of the University of Auckland’s Liggins Institute, which leads New Zealand’s
research into pregnancy and babies.
“In this case, the testing gave the family certainty, and avoided unnecessary medical procedures, letting her parents
spend as much time with her as possible.”
The Liggins Institute is looking at the potential for New Zealand to offer this type of testing routinely.
The case demonstrates “the value of rapid whole genome sequencing in the diagnosis of rare disorders in critically ill
newborns,” Professor Bloomfield and his colleagues wrote in the genetics journal. “Rapid diagnosis provides certainty
for the family in highly stressful situations in which they often are expected to contribute to major decisions about
provision of care,” they said.
In the case of the critically ill child, doctors sent blood samples from the baby and her parents to Australia for
analysis. (Differences between the genomes of the parents and the child can help in identifying an illness.)
“While the Covid-19 pandemic familiarized the public with rapid genomic tests for tracing chains of infection, people
know much less about the potential for improved medical treatment,” says Professor Bloomfield.
The team led by Professor Bloomfield, included Dr Kristina Sibbin and colleagues from Auckland City Hospital along with
academics from the university’s School of Biological Science, and the Liggins’ Professor Justin O’Sullivan and Dennis
Nyaga.
The sequencing and analysis were carried out by the Victorian Clinical Genetics Service in Australia.
Each year, hundreds of children in New Zealand are born with critical illnesses which defy diagnosis. With 7,000 rare
diseases in existence, even doctors with decades of experience can be stumped when a newborn is struggling for survival.