Genome Sequencing in Newborns May Identify Life-Threatening Disorders Missed by Traditional Tests: Study Shows - Video

A recent study published in Nature Medicine has revealed that adding genomic sequencing to Australia's standard newborn blood screening could dramatically improve early diagnosis and treatment for hundreds of severe childhood conditions.

The BabyScreen+ study demonstrated that using genomic sequencing, which maps a baby’s entire genetic code, could expand screening to detect hundreds of serious, treatable disorders. The test, using the same blood sample already collected for standard screening, returned results within 14 days.

In the pilot study, 1,000 newborns in Victoria were screened for changes in 605 genes linked to early-onset, severe, and treatable conditions. The genomic testing, conducted separately from the standard screening, required additional parental consent. Researchers found that 16 babies had a high likelihood of a genetic condition, yet only one was identified through the traditional heel-prick test.

One powerful case was that of baby Giselle, diagnosed at seven weeks with the life-threatening immune disorder hemophagocytic lymphohistiocytosis (HLH). “We went from thinking we had a healthy baby to the real possibility she might die,” said her mother, Scarlett. A successful bone marrow transplant, with Scarlett as the donor, saved Giselle’s life.

Lead researcher Professor Zornitza Stark said, “Newborn screening for rare conditions is one of the most effective public health interventions,” emphasizing how genomic screening vastly expands the range of detectable diseases. Associate Professor Sebastian Lunke added that while the technology offers lifelong benefits, it raises concerns around privacy, cost, data storage, and consent.

With 99.5% of parents in the study supporting universal access to the testing, the study's findings pave the way for broader adoption.

Reference: Lunke, S., Downie, L., Caruana, J. et al. Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study. Nat Med (2025). https://doi.org/10.1038/s41591-025-03986-z