The Medical Services Advisory Committee's advice to Health Minister Mark Butler paints a dystopian picture of its decision-making. It has blithely dismissed the lives of newborn babies, which can only raise questions about its ongoing moral authority.
According to the committee, it is not worth screening to potentially save one newborn each year from the degenerative and life-threatening effects of Pompe disease. It condescends to a small number of families by asserting they are incapable of managing the future negative consequences of a serious diagnosis.
This committee treats all of us with contempt. This outcome is truly contemptible.
Given the dismissive and inhuman tone, it is tough to believe a human being formulated the outcome, let alone wrote it.
These types of outcomes are the most corrosive kind of virus for a system already weakened by the loss of public confidence.
We can live with negative outcomes because of the hope of another submission. Yet, should we live with the cavalier dismissal of a newborn life?
The reason we need newborn bloodspot screening for Pompe disease and so many other conditions is that babies and adults are not being diagnosed in a timely way, or at all. Newborn screening aims to correct this deficit, the impact of which is not theoretical, given that delayed diagnosis is leading to real harm, including suffering and death.
Timely diagnosis is the point made by Prime Minister Anthony Albanese in the 2022 election campaign, when he used Pompe disease as the case study, highlighting the need to reform Australia's Newborn Bloodspot Screening programs.
Labor used baby Nate in its election campaign. Nate was not screened for Pompe disease. He was diagnosed late, and he died as a result. Based on MSAC's advice, Nate, born in 2025, and his family would endure an identical experience.
What about the Indigenous babies in Victoria who, in recent years, died from Pompe disease, having not been diagnosed, let alone screened? So much for 'Closing the Gap'.
Fortunately, Health Minister Mark Butler is free to ignore MSAC's contemptible advice, as his predecessor Greg Hunt did on Spinal Muscular Atrophy.
MSAC's advice amounts to an argument against most, if not all, screening because of a vague and unsupported claim that a tiny number of false positives or the so-called harm caused by a future diagnosis of disease.
Why screen for anything, particularly if it might trigger concern, observations and early intervention, including treatment? Why do we screen for cystic fibrosis when, for many patients, it does not emerge until adolescence or even later? Spinal muscular atrophy is the same.
According to this committee, adding Pompe disease to Australia's Newborn Bloodspot Screening programs in 2025-26 would identify approximately 58 screen-positive cases, who may be recalled for clinical review and diagnostic testing. That is 58 out of the almost 300,000 babies born in Australia each year.
"Of these, approximately one newborn per year would be clinically diagnosed with infantile-onset disease," said the committee, adding that a further 10 would be considered at risk of developing late-onset Pompe disease.
On this basis, the diagnosis of 11 cases, including one infant each year, MSAC rejected adding Pompe disease to the Newborn Bloodspot Screening programs.
It claimed that, on balance, the downside for the 10 at risk of disease later in life exceeded the benefit of potentially saving the life of one newborn each year. What are the harms to the 10? According to MSAC, the harms are anxiety, overmedicalisation and overtreatment, and parental hypervigilance, whatever that is?
The language represents a dazzling display of inhumanity, revealing a level of compassion that barely an AI-derived spreadsheet could understand.
How much would screening for Pompe disease cost the states and territories? According to MSAC, "Costs to state and territory budgets of adding GSD II [glycogen storage disease type II] to NBS would be $42,555 in Year 1 to $143,208 in Year 6, while the costs to the MBS would be $27,980 in Year 1 to $44,832 in Year 6."
The total direct cost of adding Pompe disease to Newborn Bloodspot Screening, including the states and territories, and Medicare, is around $800,000 over the six years to 2030-31. This equates to around 44 cents for every baby born in Australia in that time.
Yes, that much, in the context of the Albanese Government committing over $100 million to the states and territories since 2022 to support the expansion of their Newborn Bloodspot Screening programs.
Naturally, MSAC chose to focus on the cost of treating the 11 people diagnosed each year, including the baby. It lamented that the baby would be treated with funded therapies 4.6 months earlier, and that those diagnosed with late-onset would also be treated earlier.
What a terrible shame that patients might actually access treatment because of a timely diagnosis. Why diagnose anyone with anything?
The most cynical aspect of the outcome is MSAC's claim that adding Pompe disease could undermine public confidence in Australia's Newborn Bloodspot Screening programs because of the risk of anxiety and parental hypervigilance in ten families. A loss of public confidence because a small number of people, including newborns, are diagnosed and treated early for a terrible degenerative condition? Is this committee really that clueless? Or, is their brilliance and insight too subtle for the rest of us to notice?
For the government, the outcome must surely raise questions about its stated commitments to genomics. Why invest all that money in the promise of genomics when, according to MSAC, the risk is early diagnosis, resulting in hypervigilance and a loss of public confidence?
To claim the potential loss of confidence in any critical public health program for serving and delivering on its stated purpose is literally an insult to reason. A less polite description might be too stupid for words. This is fecklessness as a governing principle for dysfunctional HTA decision-making.
You suppose the ready dismissal of a newborn's suffering and life, as well as the confected arguments about ill-defined harms, is the endgame of health technology assessment, characterised by its obsessive adherence to bogus economic models.
What makes this outcome so utterly offensive is its total disregard for a newborn, for whom screening and early access to treatment could mean the difference between life and death. Just ask Nate's family.
