Newborn screening started in the USA in 1963 with a blood test for phenylketonuria (PKU) developed by Microbiologist Robert Guthrie.

Australia began screening for PKU in 1964, and screening for congenital hypothyroidism followed in the early 1970s. The testing used dry blood spots on filter paper cards developed by Guthrie.

Cystic Fibrosis (CF) was added as a screening test in Australia in 1981. Data showed that by screening for CF, a child’s time in hospital could be reduced from 1 month per year to just 3 – 4 days.

Despite this proven benefit, CF screening has only been taken up by the rest of world in the last ten years. Previously doctors could only diagnose a child once symptoms developed.

In 1997 Australia was the first country to start large-scale screening with tandem mass-spectrometry. This technique meant pathology labs could test for up to 30 disorders on one sample.

The ability to screen for more disorders has obvious benefits, but Associate Professor Veronica Wiley says there is a need for caution when adding new tests.

 “It’s all about finding disorders that can be treated. We have to ask the questions: do we want to know at birth? Sometimes a disorder won’t develop symptoms until adulthood so is there a benefit to knowing so early? And does screening improve the child’s life?”

The development of next generation sequencing has enhanced the ethical concerns around screening. We have more information than ever available to us but we must be careful in deciding what we do with it.

The development of new drugs to treat specific forms of genetic disorders such as CF or muscular dystrophy, alongside a new capability to screen for the gene mutations that cause the disorders, means more screening and effective, earlier treatment paths.

A/Prof Wiley hopes one day every baby, wherever they are born, will be given the healthiest start to life possible;

“We’re at the feel good end of the genetics market – children are performing better and we’re saving lives.”

The post “Kids are doing better and we’re saving lives”: how Australia has led the world in newborn screening first appeared on Know Pathology Know Healthcare.