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Australian study: Newborn foot and blood gene sequencing helps early detection of disease

Xinhua Agency, Melbourne, October 11 (Reporter Xu Haijing) The Australia Murdoch Children's Institute recently released a study saying that adding genomic sequencing to neonatal screening can help detect hundreds of additional disease risks and facilitate earlier diagnosis and treatment.

The study, led by the Murdoch Institute for Children and the Clinical Genetics Service of Victoria, Australia, was recently published in the British Journal of Nature and Medicine. Researchers found that if the genome sequencing was included in the current Australian foot-and-blood screening, it could provide screening results for hundreds of treatable diseases within 14 days.

The study used foot-and-foot blood samples to sequence the genome of 1,000 newborns in Victoria to examine 605 genes associated with early onset, severe and treatable diseases. The results found that 16 of the newborns were more likely to develop genetic diseases, while routine screening found only one.

Currently, Australian newborn foot-and-foot blood screening can cover 32 diseases. The study found that newborn parents have a higher degree of acceptance for genomic sequencing, and 99.5% of parents believe that such screening should be extended to all newborns.

The researchers say the inclusion of genomic sequencing in neonatal screening could expand the scope of disease screening, including those that are susceptible to cancer in children, as well as current standard screening techniques that can’t detect heart and nervous system diseases.

The researchers also warned that neonatal genetic sequencing also faces operational and ethical risks, including cost, fairness, data storage security, and children's decision-making power in adulthood.



News raw data sources → https://world.huanqiu.com/article/4OgIqnoav1w

17WorldNews[2025.10.11-14:23] 访问:40
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