Many SMA researchers hope to see a Medicare-funded carrier test offered to Australians of childbearing age that would test for a range of genetic conditions including SMA. Carrier pairs could undergo IVF to select embryos free of the SMN mutations.
But a recent focus has been lobbying for SMA to be added to the list of conditions included in the heel-prick test for all newborns.
Newborn bloodspot screening programs vary from state to state,but generally test for around 25 conditions,most commonly cystic fibrosis,hypothyroidism,Phenylketonuria and galactosemia. The list of conditions hasn’t changed over the past 16 years.
In 2017 the federal government’sStanding Committee on Screening will consider putting in place a national newborn bloodspot screening framework for a coordinated approach.
SMA may be considered for inclusion once a framework is in place,a spokeswoman for the federal Department of Health says. The most common reasons conditions are excluded are a lack of an accurate test,a lack of effective treatment,the harm outweighing the benefit,or it not being deemed to be cost-effective.
With nusinersen offering some semblance of hope,researchers,clinicians and parents could mount a stronger argument for including SMA in bloodspot screening,says Dr Farrar of the Sydney Children’s Hospital.
But further research is needed to evaluate the drug’s efficacy longer term,and the benefits of starting treatment early.
“This is a discussion that we need to start having,” says Dr Farrar. “There is hope and the landscape is changing.”
For now,nusinsersen is only available via the extended access program to patients with SMA1. The hope among the SMA community is that one day – after the rigmarole of analyses and approvals – the drug will be listed on the Pharmaceutical Benefits Scheme,securing universal access for patients across all subtypes of the condition.