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Calls for expanded genetic testing funding
While the MBS item covering three conditions is welcome, experts say greater funding would boost access for more conditions and counselling.
Genetic testing experts are calling for expanded funding for screening more conditions than the three covered under the current MBS item.
When Rachael and Jonathan Casella’s daughter Mackenzie was born in 2017, it made their life ‘seem like perfection’.
But at 10 weeks old, a simple comment about Mackenzie not moving the way she should during a lactation consultation, led to a diagnosis 48 hours later of spinal muscular atrophy (SMA).
Sharing her story with newsGP, Rachael said the months after Mackenzie’s diagnosis were ‘filled with joy when she was awake as we showed her as much life and love as we could, and the nights were filled with pain as we cried and tried to prepare ourselves for what was to come’.
‘Mackenzie died at seven months and 11 days old in our arms,’ Rachael said.
‘It is hard to put our grief into words, our loss impacts every single day of our lives no matter how many years pass.’
Unknowingly carrying the genetic condition, Rachael and Jonathan asked for ‘every test possible’ during pregnancy but were not offered reproductive genetic carrier screening.
‘This could have shown us that our future babies would be at risk of the condition,’ Rachael said.
‘Back then, not many medical professionals knew that finding out what risk you have as a couple of having a baby with a genetic condition is easily identified through reproductive genetic carrier screening.
‘[But] it was only offered to those with a family history or by medical professionals who knew about the test and was, more often than not, only offered to those in high socio-economic status as it was an expensive test carried out through private companies.
‘After learning how the current system failed us and many others, we wanted change.’
One month after Mackenzie’s diagnosis, her parents embarked on a mission to raise better awareness on genetic carrier screening to provide choice to families and the opportunity to access life-saving treatments for babies.
After campaigning to the Federal Government to make genetic carrier testing free for all Australians, in 2018, the Mackenzie’s Mission research project was announced.
The three-year study investigated ways to deliver a national reproductive genetic carrier screening program to all couples in Australia.
It involved a saliva swab sent in the mail, screening approximately 1300 genes associated with around 750 conditions, with high-risk results and options given to couples by a genetic counsellor.
Published in November 2024, the study’s results outlined education for prospective parents, medical professionals, and the impact of cost–benefit analysis of expanded reproductive carrier screening.
The project also led to SMA, cystic fibrosis (CF) and fragile X syndrome (FXS) all being covered by Medicare from November 2023, creating affordable access to the three genetic conditions.
Associate Professor Alison Archibald, genetic counsellor, clinical researcher with Australian Genomics, and co-author of the study, believes that current MBS items for genetic screening and counselling need to be expanded to include more conditions.
‘And we need to fund genetic counselling and education so that people can make informed decisions about screening and be supported to navigate unexpected results,’ she told newsGP.
‘Mackenzie’s Mission data strongly support screening for more conditions than just the three that are covered through the MBS item number.
‘Our results show that of all the reproductive couples who received an increased chance result, only 20% had an increased chance for CF, FXS or SMA. While the remaining 80% had an increased chance for other rarer genetic conditions. Genomic sequencing technology means that other conditions can be easily added to a screening panel without significant increases in test cost.
‘Having provided genetic counselling support to many couples who receive results showing an increased chance for children with a rare condition, I have seen first-hand the impact of this information and how it empowers people to make informed reproductive decisions.’
Ahead of Rare Disease Day on 28 February, Associate Professor Archibald said GPs have a crucial role in delivering genetic screening and making it accessible through raising awareness.
‘GPs are the first port of call when it comes to reproductive healthcare which provides an important opportunity to make people aware of this screening,’ she said.
‘As GPs have significant expertise in talking about reproductive healthcare, they can explain the purpose of screening and what it involves, order the test for people who want it and convey results back to patients.
‘Receiving an increased chance result can have a range of psychosocial impacts – GPs can be instrumental in identifying patients who require emotional support and referring them to a psychologist with expertise in reproductive and antenatal care.’
But in her experience educating GPs, she says a key barrier to incorporating carrier screening into their practice is a perceived lack of knowledge and confidence in offering the test.
‘Some GPs worry that genetics is complex and can open a Pandora’s box, there is often a perception they need to have a depth of knowledge in genetics in order to offer screening, and because GPs are very busy … they often don’t have the time to upskill to the level they feel is needed,’ she said.
‘Our experience shows us that the key role of a GP is to start the conversation about screening … and GPs can empower themselves to optimally offer screening by using a pathology service that provides comprehensive education information and genetic counselling support – this ensures patients will get good quality information about testing and thorough support should they need it.’
Rachael Casella and her husband with their daughter Mackenzie, who died from spinal muscular atrophy at age seven months. (Image supplied)
And while the pain of losing a child will never go away, Rachael continues her advocacy for more affordable and accessible testing.
‘Australian GPs are now advised to routinely offer reproductive carrier screening to all individuals considering pregnancy, specifically for the detection of SMA, CF and FXS carriers,’ she said.
‘The Mackenzie’s Mission team’s ultimate aim is to expand carrier screening with the hope that it will become a program that screens more conditions.
‘This would allow for consistency in testing, patient education, result consultation with genetic counsellors and pathways forward for high-risk couples.
‘It would take the pressure off of GPs who already need to know so much and hold so much responsibility. To get this screening program, we need GP support and a high uptake of the current Medicare testing.’
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