Rapid genetic testing provides answers for critically ill babies

05 July 2018
Genomics

Critically unwell babies with suspected genetic conditions in NSW will now have access to rapid genomic testing under the Australian Genomics Acute Care study.

The first patient to take part in NSW was recruited last week through Sydney Children’s Hospitals Network, which is contributing $500,000 to the program over two years to assist with the costs of genetic testing. 

The first recruited baby, parents and medical team have already benefited from the program.  DNA samples from the baby and parents were sent to NSW Health Pathology, Randwick, for whole exome genetic sequencing, with the team reaching a diagnosis in the incredible turn-around time of just three days. 

The national program, which is also being piloted in Victoria, Queensland and South Australia, aims to provide genetic testing for up to 250 babies in neonatal paediatric intensive care units within a maximum of five days.

With detailed planning and organisation with the recruitment sites, the team at NSW Health Pathology, Randwick, led by Clinical Director Associate Professor Michael Buckley, will undertake the genomic testing for babies in NSW selected for expedited results as part of the program.

There are a number of clinical geneticists, neonatologists, intensive care specialists and genetic counsellors from Sydney Children’s Hospitals Network involved in the program, including project lead for NSW, Dr Jason Pinner, Dr Sarah Sandaradura, site lead for The Children’s Hospital at Westmead, and Associate Professor Meredith Wilson, who is a member of the Acute Care national working party.

This team belong to a national committee of geneticists responsible for providing preliminary approval to those critically unwell babies considered likely to have a genetic condition that cannot be diagnosed with simple testing.  According to parental preferences, the appropriate genetic testing can then be ordered.

The rapid genomic testing provides diagnostic certainty for both carers and parents and can help guide the treatment and management strategies of acute care to maximise the health outcomes for these newborns.

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