On Rare Disease Day, the Albanese Government has announced two more rare genetic conditions have been recommended by the independent group of experts for addition to Australian newborn bloodspot screening (NBS) and a new treatment option for infants with spinal muscular atrophy.
The Medical Services Advisory Committee (MSAC) has recommended the addition of X-linked adrenoleukodystrophy (X-ALD) and sickle cell disease to Australian NBS screening programs.
X-ALD is a rare genetic disorder that affects the nervous system and the rate at which this disorder progresses can be extremely rapid and lead to significant disability and death.
Early intervention is key to improving the outcomes for young Australians with X-ALD.
Sickle cell disease is a rare inherited blood disorder and causes chronic anaemia, bone and chest pain, organ damage, and painful swelling of the hands and feet.
Diagnosing kids with sickle cell when they are just infants can mean early treatment, symptom relief and a lower chance of lifelong complications.
State and Territory Governments will now collectively consider this advice to inform a national decision on adding these conditions to Australian screening programs.
Last year, the Albanese Government delivered on its commitment to put an end to the newborn screening postcode lottery so all Australian babies are tested for the same conditions at birth.
For the first time in 60 years, there is now an agreed national list of current newborn bloodspot screening conditions.
The Government also committed $39 million to achieve national consistency and expand the program, including $25.3 million to states and territories to support the delivery of screening.
On 1 March, Nusinersen (Spinraza®) will also be expanded on the Pharmaceutical Benefits Schedule (PBS) to include treatment of infants under the age of 3 who are genetically diagnosed with spinal muscular atrophy (SMA) and have a SMN2 gene copy number of 3, but who are not yet showing symptoms.
SMA is a rare inherited genetic condition that affects the nerves controlling muscle movement – motor neurons. It causes progressive muscle weakness and wasting, and in its most severe forms leads to paralysis and death.
Left untreated, SMA is the number one genetic cause of death of babies aged under the age of 2 in Australia.
An additional 5 infants per year will benefit from this listing. Without the subsidy, their families would pay around $330,000 per year of treatment.
Quotes attributable to Minister Butler:
“MSAC’s careful consideration of X-ALD and sickle cell disease will support the continued quality of the programs and is an important step in the ongoing expansion of newborn bloodspot screening.
“About 300,000 newborn babies are screened in Australia every year. Around 1 in 1000 babies has a condition that would otherwise go undetected.
“Bloodspot screening helps babies and families across Australia to get the early intervention they need and give newborns with these conditions the best start.
“We’re committed to improving the lives of Australians with rare diseases. The expanded listing of Spinraza to treat SMA will save families hundreds of thousands of dollars each year.”
Quotes attributable to Nicole Millis, CEO, Rare Voices Australia:
“The Australian Government’s National Strategic Action Plan for Rare Diseases identifies the life-changing and life-saving potential of NBS. Early diagnosis is critical to the rare disease community as it enables the best immediate treatment and care.
“Rare Voices Australia welcomes the ongoing collaboration between the Commonwealth and states and territories to ensure the sustainability and successful expansion of Australia’s NBS programs.
“As the national peak body for Australians living with a rare disease, Rare Voices Australia acknowledges the pivotal role of MSAC. A funded, transparent and sustainable assessment process is key to Australia’s NBS programs.”
Quotes attributable to Agnes Nsofwa, Founder and Executive Director, Australian Sickle Cell Advocacy Inc:
“Australian Sickle Cell Advocacy Inc welcomes the MSAC recommendation of the addition of sickle cell disease to Australian NBS bloodspot screening programs.
“Early intervention and treatment is so important in reducing the chance of lifelong complications.
“Australian Sickle Cell Advocacy Inc thanks the Government and MSAC for its work and for this recommendation.”
Quotes attributable to Bob Wyborn, Founder, Leukodystrophy Resource and Research Organisation Inc:
“As a father who has experienced the loss of my son, Brendan, to X-ALD, the importance of early diagnosis cannot be understated.
“Brendan’s story has taught us how important education about X-ALD and its symptoms are. Without early diagnosis and the appropriate treatment our children won’t survive.
“The emotional, physical and financial cost is enormous and can be avoided through early detection.
“NBS can be a potentially life saving opportunity for infants with X-ALD.”
