Spinal Muscular Atrophy testing for newborn babies
AMA Queensland is calling on the Queensland Government to include Spinal Muscular Atrophy (SMA) in heel prick testing for new born babies in the state.
SMA is a genetic neuromuscular disorder that affects one in every 10,000 births and disturbingly most babies diagnosed with type 0 or 1 die before the age of four.
SMA is characterised by the loss of motor neurons and progressive muscle wasting and is the childhood version of motor neurone disease, one of the leading genetic causes of infant death worldwide.
New South Wales (NSW) and the Australian Capital Territory (ACT) are currently undertaking a two-year pilot program, involving more than 200,000 babies being tested for SMA as part of the newborn heel prick test. It’s estimated the pilot will cost $2 million, but early detection of babies affected by SMA allows for early intervention before symptoms develop.
We believe that Queensland should follow the NSW and ACT governments and include SMA testing as part of the heel prick test for babies. This would mean Queensland babies diagnosed with the disease could begin treatment as soon as possible and increase their chances of improved health and better quality of life.
The Federal Health Minister Greg Hunt also wrote to all state and territory health ministers in March this year, encouraging all Ministers to include the SMA test as part of their new born screening programs and committed to fund 45 per cent of the services. We understand the Queensland Government are currently evaluating a range of genetic tests, including SMA to be included in new born screening tests.
AMA Queensland is also recommending that genetic counselling should be part of the process of implementing any new test for newborns that Queensland Health develops. The test should also include targeted provisions and referral pathways to ensure appropriate counselling is provided.
Our 2021-22 Budget Submission asks the Queensland Government to commit $700,000 to introduce SMA in the Queensland New Born Screening Program.