The most troubling aspect of the Medical Services Advisory Committee’s (MSAC) decision is not simply its rejection of Pompe disease for newborn screening, but its betrayal of the testimony of those living with the condition and their families.
This publication will not relent in its criticism of this outcome because of its precedent-setting and dangerous paternalism, set against the institutional backdrop of an authority that has cherry-picked and arguably misrepresented the evidence.
In the outcome, MSAC acknowledges stakeholder concerns over the "long, difficult and costly process before being diagnosed with GSD II [glycogen storage disease type II, or Pompe disease] and during this time some developed worsening symptoms."
It is a tacit recognition of the need for screening because of our consistent failure to diagnose in a timely way.
MSAC said, "Consumers supported the service and highlighted the ‘value of knowing’ being important to them as it would inform reproductive decision making, lead to parents being better prepared for a child’s disabilities, and people with LOGSD II [late-onset glycogen storage disease] being able to make decisions that accommodate future disability."
Yet it then dismisses these concerns based on the risk of overmedicalisation and parental hypervigilance caused by patients, families and carers knowing the dangers of a debilitating and potentially life-threatening disease.
How can any committee in good conscience acknowledge the stated position of patients, their families and carers, recognising the existing extreme shortcomings in gaining a diagnosis, and then condescend to assert that ignorance is best for them?
To be clear, this outcome is not about cost. The cost of adding Pompe to newborn screening is less than minimal. It would lead to earlier treatment, which is obviously a positive in any world characterised by humanity. However, a primary basis for MSAC's decision is the risk and potential harm associated with knowledge.
Who assumes this authority to declare that ignorance is preferable to knowledge?
The outcome is deliberate obscurantist cruelty in a system of institutional authoritarianism. Where do patients go if the authority acknowledges their lived experience and then dismisses it? The minister, obviously, whose instinct on this was correct in 2022 when he said 'never again' in response to the death of baby Nate.
MSAC’s reasoning reflects what American philosopher Joel Feinberg described in his four-volume work, The Moral Limits of the Criminal Law (1984–1988), as 'hard paternalism'. Feinberg described it as the exercise of power to override informed and competent choices on the assumption that those in authority know better.
According to Feinberg, soft paternalism might involve a doctor withholding consent for surgery until the patient is adequately informed of any risks, while hard paternalism is where the patient is fully informed and competent.
Feinberg argued that it was not morally acceptable for agencies of the state to coercively restrict the liberty of an individual in a decent society. In the case of MSAC, it has used its authority to limit the liberty and choices of Pompe patients, their families and carers.
We need to think about the implications, assuming we all want to live in a decent society.
In Australia, people denied funding via the National Disability Insurance Scheme (NDIS) or a plethora of other government-funded services have recourse to the Administrative Review Tribunal. Even convicted criminals can appeal a court's decision to restrict their liberty.
In fact, Pompe patients have fewer rights to formal recourse than convicted criminals.
The institutional authority has dismissed their input, and in the process, potentially condemned some Australian infants to a terrible death. Please make no mistake, Australian infants will die as a result of this outcome, watched by their distraught families as they struggle for life. If this makes you uncomfortable, it should, as should knowing that people will experience late-onset Pompe and its terrible consequences, all because MSAC believes they are incapable of managing an early diagnosis.
Another critical lesson, reflecting the wrongs of hard paternalism, is the tendency of institutions to abuse power asymmetry.
In the words of 19th-century British historian and politician Lord Acton, “Power tends to corrupt, and absolute power corrupts absolutely.”
For publishers, it is critical to check citations in statements and outcome documents, particularly when they are replete with unequivocal statements of facts.
The Medical Services Advisory Committee's (MSAC) outcome, which does not support the inclusion of Pompe in Australia's Newborn Bloodspot Screening programs, is just the latest example.
Does MSAC believe that the citation of references in its Pompe outcome meets the medical journal test of being correct, complete and accurate?
The institution's use of cited sources provides evidence of a committee that made a decision, then looked for supporting documents. It probably assumes nobody would check the sources, or it just does not care.
It is the latest example of institutional power being used to redefine what we are meant to believe is the truth.
In the Pompe outcome, MSAC cited a Taiwanese study to question the efficacy of early diagnosis and treatment.
The committee said that while earlier diagnosis and treatment reduce cardiomyopathy and improve motor function in infant-onset Pompe, it noted, based on its assessment of the Taiwanese study, “that ERT-treated [enzyme replacement therapy] patients with IOGSD II [infant onset glycogen storage disease type II] may later develop weakness, and bulbar dysfunction.”
MSAC also questioned the applicability of Taiwanese data to the Australian population.
The committee cherry-picked the study and, in some cases, arguably misrepresents its findings to support its rejection of Pompe disease.
What the Taiwanese cited study actually stated was that “Trials on ERT efficacy in IOPD [infant-onset Pompe disease] suggested that early treatment leads to better outcomes.” It said, “Taiwan pioneered newborn screening (NBS) for Pompe disease. Comparing Taiwanese data with real-world data from countries without NBS reveals superior results in ventilator-free survival and motor function, even when considering a specific genetic Taiwanese background.”
On page 11 of the published outcome, “MSAC noted that most medical and legal organisations do not support testing children for adult-onset diseases to preserve their autonomy and right to provide informed consent.” It cites four references, including the Taiwanese study, as well as a study on predicting Pompe disease phenotypes, an Illinois study of screening outcomes, and a long-term study of infants treated with ERT. Not one of these four studies can plausibly be represented as suggesting that medical and legal organisations do not support testing for children for adult-onset diseases.
Sometimes, MSAC's assertions in the outcome are not supported. They are just assertions.
It noted that "consultation input from health professionals and newborn screening laboratories raised concerns about identifying LOGSD II [late-onset glycogen storage disease type II] as it is mostly an adult-onset condition, and limitations with the screening tests. MSAC considered that it was not known whether newborn screening for a mostly adult-onset condition, without an effective early intervention was acceptable to the Australian community.”
The outcome does not include any citation in support of the claim. It is just an assertion raising a vague question of doubt. The wording has intent. Another way to express the question would be to say that screening for a mostly late-onset genetic disease might be welcomed by the Australian community.
It does cite and arguably misrepresents a 2019 study about Huntington’s disease.
“MSAC noted that the majority (up to 90%) of individuals with a parent affected by Huntington’s disease choose not to undergo predictive testing, largely due to the lack of an effective treatment and the fact that the knowledge of their genetic status cannot be unlearnt once known,” it claimed.
The 90 per cent claim is based on the 2019 study's citation of a 2016 study of people at risk of Huntington’s disease who chose not to be tested. That is, MSAC has cited a study cited in another study. In the 2016 observational study, 10 per cent of the 1,001 participants decided to be tested during the study. Participants in this study were selected based on their decision not to undergo testing for Huntington's disease. How can MSAC use this to assert that most people prefer not to understand the risk of developing a genetic disease, when that was the cut-off for people's participation in the study?
The 2019 Huntington study is based on the introduction of genetic testing for Huntington’s disease in North America and Europe in the early 1990s. The study population comprises clinically unaffected adults at a 50 per cent risk of carrying the genetic defect who have decided against undergoing presymptomatic genetic testing. The average age of the group was 44.5, and two-thirds (66 per cent) chose not to be tested because of the absence of any treatment. Around 60 per cent said that, despite no symptoms, they would be tested if it meant access to an effective treatment or a clinical trial. Even the study authors acknowledge the age of the participants as a limitation, as well as the fact that the group was self-selected and had chosen not to undergo testing.
A younger US subset of study participants indicated a more substantial likelihood to seek testing as a way to understand the risk of developing Huntington’s disease and assist in making choices about education, career and family.
The Huntington’s study cited by MSAC to argue against patients choosing to seek a diagnosis is of a middle-aged cohort of clinically unaffected adults. It bears almost no relationship to people potentially impacted by Pompe disease, for which there are treatments. The Huntington’s study highlights the impact of treatments on diagnosis decisions. It cites a study of people at risk of Parkinson’s disease, where “interest in testing increased based on the hypothetical risk” of the disease they were given in survey questions.
In the end, MSAC has not only arguably misrepresented evidence, but it has also reasserted its authoritarian institutional power over the lived experience of patients and families. It is obscurantist paternalism at its most dangerous, driven by the exercise of authority to keep people ill-informed, even at the cost of their lives.
