Genetic testing in the fast lane

CRITICALLY ill children now have access to rapid genetic testing with the potential to diagnose, change treatment and even change their prognosis, in as little as three days.

An Australian-first program aims to slash the time it can take to find a diagnosis, end the trial and error of treatments, and stop parents passing on the disease to siblings.

Standard genetic testing, aiming to pinpoint the source of disease among 22,000 genes, takes three to six months — far too long for a severely ill child.

More than 50 children, some just a few days old, with a suspected genetic condition, have had the rapid testing so far this year while in intensive care units across the country.

Professor John Christodoulou, co-lead of Australia Genomics — a collaboration of 80 hospitals and research institutes — said they had diagnosed half of all cases in under five days with the $10,000 test.

“Genomic sequencing is the most disruptive technology in health care in 10 years,” he said. “It gets these kids off the diagnostic treadmill, so they no longer need invasive investigations.

“The second gain is that it can help us guide treatment for these children.”

Blood samples are sent to the laboratory based at Murdoch Children’s Research Institute.

Laboratory head of the Acute Care Genomics program, Dr Sebastian Lunke said a team of geneticists were oncall in Parkville around the clock to process the data, and call a “virtual meeting” with doctors and scientists to analyse the results as fast as possible.

“Ten years ago patients waited a decade for data. Now we do it in three days,” Dr Lunke said.

“There are thousands of genes associated with disease, but we don’t know what every gene in the genome does yet. We’re trying to improve the technology to diagnose more patients.”

Clinical lead Associate Professor Zornitza Stark said the findings also contributed to the understanding of the genetic cause of rare disease, a crucial step to designing new treatments.