South Australian families now have access to newborn screening for two additional life-threatening genetic diseases, giving early treatment options and hope to more families.
The Malinauskas Labor Government has invested $424,000 to acquire multiplex neonatal screening equipment that uses state-of-the-art DNA gene testing technology to identify babies who have spinal muscular atrophy or severe combined immunodeficiency.
The Federal Government has provided $1.46 million in funding over four years to enable the additional testing in SA and ensure national consistency in screening across Australia.
Babies with spinal muscular atrophy have the best outcome when the disease is diagnosed within the first 14 days of life, with treatment occurring rapidly after detection. Severe combined immunodeficiency can be fatal without early intervention such as a haematopoietic stem cell transplant.
The additional testing is being incorporated into South Australia’s existing newborn screening program, which currently tests babies for six major groups of treatable disorders within 48 hours of birth across SA, the lower part of Northern Territory and Tasmania.
Newborn screening in South Australia is now expected to identify one baby in every 700 newborns with a treatable disorder who will be transferred to specialist clinical care.
It is anticipated spinal muscular atrophy will be detected in approximately two babies every year, and one baby every two to three years for severe combined immunodeficiency.
The equipment will be able to extract a baby’s DNA from a single dried bloodspot. It uses real-time PCR testing to analyse the genes for spinal muscular atrophy and DNA by-product for severe combined immunodeficiency to identify babies affected by the conditions.
Highly specialised scientific staff with molecular genetic expertise have also been employed to run the DNA testing equipment and provide skilled data interpretation.
Spinal muscular atrophy affects the nerve cells controlling muscle movement, which causes muscle weakness and wasting. Babies have difficulty crawling, sitting, and walking, and their ability to breathe and swallow is also impacted. In its most severe form, an affected baby does not usually survive beyond their second birthday without medical intervention.
Severe combined immunodeficiency is caused by defects in cells of the immune system with babies appearing healthy at birth, but soon impacted by recurrent, severe and unusual infections.
As put by Chris Picton
Advocates and families have been asking for spinal muscular atrophy and severe combined immunodeficiency testing for years, and we have listened.
These tests save lives. Adding these conditions to the routine panel of newborn screening will provide life-changing treatment to those affected babies and provide families with additional peace of mind.
This gives families the ability to start targeted clinical care and treatment as soon as possible, giving their children hope for the future.
As put by Federal Health Minister Mark Butler
Every newborn deserves access to world’s best screening.
The Albanese Government is delivering on our election commitment to put an end to the newborn screening postcode lottery by making sure every baby born in Australia has access to the same screening program.
This historic approach to newborn screening with state and territory governments, will deliver a nationally consistent approach to newborn bloodspot screening.
Newborn screening will not only save lives but will deliver better outcomes through early intervention.
We want parents to be confident that no matter which hospital their child is born, their baby will be appropriately and consistently screened for rare conditions, that the screening result is accurate and that they will be connected to support and services wherever they live.
As put by SA Pathology Clinical Service Director, Dr Jill Lipsett
We know that the newborn screening health check is an incredibly important part of a baby’s first few days of life and we’re thrilled to be able to expand this service to test for both spinal muscular atrophy and severe combined immunodeficiency.
The implementation of newborn screening for spinal muscular atrophy and severe combined immunodeficiency utilises highly sophisticated DNA testing requiring both new state-of-the-art equipment and highly specialised scientific staff, and we have worked hard to implement this as quickly as possible.
As put by SA Pathology’s genetic pathologist at the Women’s and Children’s Hospital, Dr Carol Siu
Being able to test for spinal muscular atrophy and severe combined immunodeficiency is something we have been working towards here in South Australia for some time.
We’re incredibly excited about the State Government’s commitment to ensuring these tests are available as soon as possible.
Both conditions are life-threatening, but treatments with great efficacy are available.
Early detection is the key for better outcomes and the aim is to start treatments within the first 14 days, so newborn screening will play a vital role in the lives of these children and their families.
