State celebrates 50 years of newborn screening

Victoria is celebrating 50 years of newborn screening, a vital health program that tests more than 99% of the State’s infants for serious, treatable conditions.

Victoria's newborn screening program is operated by Victorian Clinical Genetics Service, which is based at the Murdoch Children's Research Institute, and is fully funded by the Victorian Government.

The voluntary heel prick test is performed within 48 to 72 hours after birth, with almost all parents choosing to participate. With 220 babies born in Victoria each day, approximately 79,000 newborn screening tests were performed during 2015.

The newborn screening program commenced in 1966, initially screening for one condition, phenylketonuria (PKU), a genetic disorder that prevents the normal breakdown of protein. Today, the heel prick test screens for 25 rare, but serious medical conditions, including PKU, hypothyroidism and cystic fibrosis. The blood is taken by pricking the baby’s heel and most babies have a normal screening test result. Samples are spotted on to cards, which are commonly known as the ‘Guthrie card’ after the test’s inventor Dr Robert Guthrie, and analysed at the Newborn Screening Laboratory at VCGS.

According to Dr Damien Bruno, Laboratory Director at VCGS, newborn screening is an extremely successful public health program that can make a huge difference in the lives of young families.

“Many parents can’t recall their child’s heel prick test, but for the few who do receive a diagnosis as a result of newborn screening, it can make an incredible difference in the future of their child,” said Dr Bruno.

Dr Bruno said that in many cases, simple treatments or lifestyles changes, such as diet changes for children with PKU, can be started early to prevent permanent damage that would otherwise have occurred had the test not been performed.

The VCGS hosted a special one-day event to mark the Anniversary, welcoming researchers, doctors and nurses from across the State who had worked on the program since its inception. On hand to mark the occasion were families whose children were diagnosed with conditions as a result of newborn screening, including Monique Cooper and her son Charlie, diagnosed with PKU via newborn screening.

“Like many new parents, it was a shock for us to receive a diagnosis, but because newborn screening was able to pick up Charlie’s condition early, we have been able to ensure the best possible path was taken for a positive future for our son,” said the mother of two, who is also President of the national support group Metabolic Dietary Disorders Association (MDDA).