Three-condition genetic carrier screening to become free

In October 2017, baby Mackenzie sadly passed away at seven months of age from spinal muscular atrophy (SMA).
 
Believing no parent should face a similar tragedy, her parents launched a mission calling for genetic carrier screening to be routine and free for all Australian families planning pregnancy.
 
After years of fierce lobbying, Mackenzie’s Mission is almost a reality.
 
Just this month, the Federal Government announced a new plan to make genetic carrier screening for cystic fibrosis (CF), SMA and fragile X syndrome (FXS) free from 2023.
 
As part of the plan, more than $80 million has been earmarked for creating a new Medicare item to support access to genetic screening for families planning pregnancy.
 
Dr Wendy Burton, GP and Chair of RACGP Specific Interests Antenatal Care has welcomed the news but told newsGP there are several issues that still need to be addressed.
 
‘I’m pleased to see Medicare funding for genetic carrier screening,’ she said.
 
‘But what happens next? There are moral and ethical issues that flow from the knowledge that you will obtain [from screening], and I’ve not seen or heard any plans [from the Government] on how to support high-risk results.’
 
CF, SMA and FXS are the most common inheritable genetic disorders, resulting in reduced life expectancy for those affected.
 
It is estimated that one in 20 Australians are a carrier for one or more of these three conditions, and approximately one in 240 Australian couples will end up at high-risk (a 25% chance) of their child being born with one of them.
 
Current Royal Australian College of Obstetricians and Gynaecologists (RANZCOG) guidelines recommend genetic carrier screening be offered to all families planning pregnancy – but this comes at a cost.
 
Three-condition screening through private pathology providers can set parents back anywhere between $250–450 per person, and the subsequent decisions that need to be made after a high-risk result are difficult and complex.
 
‘If screening comes back positive, I think most couples who can afford to, would choose to self-fund IVF,’ Dr Burton said.
 
‘But what about those that can’t afford to? Will there be funding for IVF with preimplantation diagnosis?’
 
In addition, Dr Burton says healthcare providers need to ensure they are up to date with the latest therapies before engaging in complex discussions with parents as part of preconception counselling, or with those who obtain high-risk results.
 
‘Although preconception counselling is well within the scope of practice for GPs, it is still a very broad area and one which keeps changing,’ she said.
 
One of her concerns is parents making difficult decisions without proper counselling.
 
‘Cystic fibrosis for example has life changing new therapies on the horizon, so it would be a shame to see parents making difficult decisions without being fully informed,’ Dr Burton said.
 
‘If parents consider termination based on a test and without full knowledge of the options available to them, then I think that’s tragic; and also disrespectful to people living with these conditions.
 
For this reason, she encourages GPs to be ‘self-aware’ of any knowledge gaps and redirect or upskill where appropriate, in order to best support prospective new parents.
 
Dr Burton would also like to see greater overall investment in antenatal care and says poor funding for services which make up routine antenatal care means women who are already pregnant are missing out.
 
‘In my opinion, I believe we need much better funding for first trimester screening including nuchal translucency scans, as well as some funding for non-invasive prenatal testing,’ she said.
 
‘Poor funding of first trimester screening means some women choose not to undergo testing early on, so anatomical anomalies are detected late with all sorts of implications for mother and child.
 
‘I think it’s because [Federal Health Minister] Greg Hunt took a personal interest, that this is being funded over other priority areas.’
 
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