Alex was born two weeks early, but she is healthy. The delivery was uncomplicated and her mother, Eloise, is also well. A nurse from the newborn screening service comes to see Eloise and Alex. He offers Eloise a choice between standard newborn screening and the “new test”, called genomic newborn screening. He explains that genomic newborn screening tests for many more conditions than standard newborn screening. It also provides Eloise with the option of having Alex’s genomic data stored so it can be re-analysed in the future if new health-related questions arise.
Newborn screening is a public health initiative to identify newborns with serious yet treatable conditions before the onset of visible symptoms, to prevent irreversible damage or death.
In Australia, programmes for newborns screen for approximately 25 conditions by analysing the chemistry of blood collected in the first two days of life. But a technology called genomic sequencing, which reads the baby’s DNA, has the potential to look at many more conditions than current newborn screening. Incorporating genomic sequencing into newborn screening would mean more babies who are going to develop severe conditions could be detected earlier, leading to earlier interventions and healthier babies.
