Martin, Zornitza

Doctors and scientists at Victorian Clinical Genetic Services (VCGS) are working towards better carrier screening and rapid genomic testing programs, to give Australian families tools to understand the cause of an unknown condition or make informed choices when planning a family.

Reproductive carrier screening

VCGS Clinical Director Professor Martin Delatycki co-leads the Australian Reproductive Genetic Carrier Screening Project, also known as Mackenzie’s Mission. The study, administered by Australian Genomics, offers couples access to genetic screening when planning a pregnancy or in the early stages of pregnancy. The screening gives them information about their likelihood of having a child with an inherited genetic condition occurring in childhood.

Through the program, Professor Delatycki explains, couples with an increased chance of having a child with one of the genetic conditions which are screened for, are supported and informed about their reproductive options, enabling them to make choices according to their own values.

Recruitment to the project is through a variety of health practitioners including GPs, obstetricians, fertility specialists, clinical geneticists, genetic counsellors and midwives.

Rapid genomic testing

A/Professor Zornitza Stark, clinical geneticist at VCGS leads an Australian Genomics study that provides ultra-rapid genomic sequencing for rare disease diagnosis to critically ill babies and children in intensive care. Ultra-rapid testing is completed in around 3 days, instead of the usual 3-6 months. The study is evaluating ultra-rapid genomic testing’s place in the Australian healthcare system.

The study recently demonstrated that ultra-rapid genomic testing can transform the diagnosis and treatment of children in intensive care, with the results published in the Journal of the American Medical Association.

“A genetic diagnosis can mean a treatment, but for most children it means no more invasive tests or procedures to search for the cause,” said A/Prof Stark in a recent interview on Radio National. “In some cases, a diagnosis of a severely debilitating or life-limiting condition helps the family to make the choice to spend quality time together away from a medical setting.”

A/Prof Stark said the value of ultra-rapid genomic sequencing to families is both in having an answer about their child’s condition and to be given that answer quickly, even if it doesn’t lead to a treatment option.

“All the families told us it was important to them, that the results were delivered quickly and that they didn't have to live with anxiety and uncertainty for any longer,” explained A/Prof Stark.

“The evidence for rapid genomic testing has been reproduced in many children's hospitals around the world. I would like to see it become standard of care within the next couple of years.”

Hear more from A/Prof Zornitza Stark and Professor Martin Delatycki, as they share insights into the importance of their work with David Murray, on ABC Radio National’s Health Report program.