Genome Sequencing Shows Promise for Early Detection of Treatable Conditions in Newborns
Victoria (ANTARA) - A new Australian study reveals that genome sequencing could considerably improve the early detection and treatment of serious conditions in newborns. Researchers at the Murdoch Children’s research Institute (MCRI) highlight the potential of re-examining a baby’s genome – which remains constant throughout life – as health concerns arise.
The BabyScreen+ study, published in Nature Medicine, screened 1,000 newborns in Victoria, Australia, for 605 genes linked to treatable conditions. Results showed genomic screening could identify hundreds of conditions treatable within 14 days, a vast improvement over the current standard heel prick test which screens for only 32.
The study found that 16 babies were at high risk for genetic conditions, but only one was identified by the standard screening. One success story involved a baby diagnosed with a rare and severe immune deficiency through genomic sequencing, who subsequently received a life-saving bone marrow transplant.
“Newborn screening for rare conditions is one of the most effective public health interventions,” stated Professor Zornitza Stark of MCRI. Wider adoption of genomic testing could lead to faster diagnoses and treatments for rare diseases like childhood cancers, and heart and neurological disorders.
However,researchers acknowledge challenges. Associate Professor Sebastian Lunke cautioned that practical and ethical considerations – including cost, equitable access, data security, and ongoing informed consent - must be addressed before widespread implementation.
(Reporter: Xinhua,Editor: Santoso,copyright © ANTARA 2025)
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