A new genomic screening project for newborns has detected serious conditions earlier than the traditional heel-prick test. The trial assessed the feasibility of using genomic screening at birth.

Melbourne

A Melbourne-based genomic testing trial involving 1,000 newborns has demonstrated the potential of advanced DNA screening to detect rare genetic disorders that standard heel prick tests may miss. In one case, 14-month-old Giselle was diagnosed early with a rare immunodeficiency disorder, allowing for timely treatment and improved health outcomes.

The trial found that while the traditional heel prick test identified one child with a genetic condition, genomic testing detected 16 cases. Despite the promising results, experts note that widespread adoption faces challenges, including infrastructure requirements, ethical considerations, and privacy concerns. Draft legislation is being considered to prevent insurance companies from using genetic test results for life insurance policies.

Genomic testing trial in Melbourne identifies rare disorders

A picture of health, thanks to a picture of her DNA. We're just the luckiest unlucky people. 14-month-old Giselle has a rare immunodeficiency disorder. It was picked up early because she was part of a genomic testing trial. Instead of, you know, potentially having really significant long-term health effects or having had her die, we're here and we're chasing around after her. 1,000 babies were part of the same trial as Giselle. Extra blood was taken with the usual heel prick test and used to map their genome. There's now a very big gap between what the heel prick test is able to detect versus what is potentially treatable. The heel prick test found one child had a genetic condition. Genomic testing found 16. For Giselle, it meant she was diagnosed with her disorder at just 7.5 weeks old. She had a bone marrow transplant when she was 4.5 months. We may have been weeks or months down the road before we actually worked out what was happening with her. Knowledge is power, and it allows both doctors and families to provide the best possible care. There are barriers to this genomic testing becoming widespread. It'll take years for the right infrastructure to be built into the health system. There are also ethical concerns about what's done with the data. Draft legislation has been drawn up banning insurance companies from using genetic test results for life insurance policies. All the issues about how to actually make it happen and how to make it happen in a responsible way that protects people's privacy and gives them choice. An easy choice for Giselle's family. Rory Campbell, 10 News.

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Beijing

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Breakdown