Spinning Disability Into Gold: SMN1 testing and the monetary valuation of life.

by Dan Meadows

In 1995, Dr. Judith Melki isolated SMN1, a gene implicated in the rare neurodegenerative condition spinal muscular atrophy (SMA). Dr. Melki also discovered SMN2, an unexpressed near-identical copy of the SMN1 gene that was a promising target for novel therapeutics. Spinraza, the first developed from this discovery, was the product of a collaborative effort financed by orphan drug policies for rare diseases. Consequently, Spinraza was expensive, initially priced at $750,000 for the first year of treatment and $375,000 for subsequent years. The economics of Spinraza’s distribution resulted in slow uptake in both private and universal payer systems, including several national restrictions and one outright denial in its coverage on cost-benefit-grounds. In the interim, two more therapeutics for SMA had been approved: a one-dose gene therapy marketed as Zolgensma that is the single most expensive-per-dose pharmaceutical in the world at $2,125,000, and an oral maintenance medication marketed as Evrysdi that is priced on patient weight with a maximum cost of $340,000 per year.

To quote Nathan Yates, SMA patient and adjunct economics professor at Southern New Hampshire University, “We should not put a price tag on life, though.”

The economic barrier to treatment for patients with SMA speaks to both the wasted utility of pharmacology in personalized medicine and what Beatrice Adler-Bolton and Artie Vierkant call the “vulgar phenomenon” of health in their debut book Health Communism. They argue that how health is defined under capitalism has as much to do with obscuring the architecture of economic systems that underpin it as it does explaining physiological phenomena. In the case of therapeutics for SMA, “personalized” also incorporates an individual’s economic, political, and geographical conditions; in other words, medicine is personalized to a patient’s class, too.

Widely understood as “social determinants of health,” all of the different ways a person’s physiology is shaped by their environment has been naturalized in our healthcare landscape but is not natural. While the World Health Organization (WHO) agrees, stating “this unequal distribution of health-damaging experiences is not in any sense a ‘natural’ phenomenon but is the result of a toxic combination of poor social policies, unfair economic arrangements, and bad politics,” authors Adler-Bolton and Vierkant argue the WHO helped to create the very conditions they now declare as being “more important than health care or lifestyle choices in influencing health.” They ague that because logics of finance and actuarial science built the foundation of our global healthcare landscape and have directly shaped institutions like the WHO, these institutions reproduce a value system that reinforces the idea of healthcare as a commodity that is to be sold on the market, even in countries with so-called universal healthcare. Put plainly, the authors argue that because capital is the central social determinant of health, patients around the world are only entitled to the health they can afford.

The authors explain how our global healthcare landscape was made this way with an analysis of the relationship between the many intersecting threads of medicine and economics. Their analysis coalesces arounda theory of healthcare delivery called Extractive Abandonment that functions primarily as financial extraction of the working class and global south. An intersection of Marta Russell’s “money model of disability” and Ruth Wilson Gilmore’s theory of “organized abandonment” in the US prison system, materially Extractive Abandonment simply concentrates wealth among the ruling class. However, sociologically it fuels the production of narratives around the worker/surplus binary – an iteration of the “eugenic debt burden” of the twentieth century – which aim to naturalize it in our culture. In an American context, it is no coincidence that healthcare’s ties to employment are the product of labor bargaining. In the authors’ words:

“The worker/surplus binary solidifies the idea that our lives under capitalism revolve around our work. Our selves, our worthiness, our entire being and right to live revolve around making our labor power available to the ruling class. The political economy demands that we maintain our health to make our labor power fully available, lest we be marked and doomed as surplus. The surplus is then turned into raw fuel to extract profits, through rehabilitation, medicalization, and the financialization of health. This has not only justified organized state abandonment and enforced the poverty of the poor, sick, elderly, working class, and disabled; it has tied the fundamental idea of the safety and survival of humanity to exploitation.”

There is not a single better explanation as to why three SMA therapeutics can be put on the market for preposterous prices, let alone put on the market at all. To put it simply, the authors quote disability scholar Liat Ben-Moshe: “surplus populations are spun into gold.”

But it does not have to be this way. Adler-Bolton and Vierkant show throughout Health Communism that the extractive economic systems that finance modern healthcare delivery are sociologically obscured but not invisible. With some work – which the authors have graciously started for us – it is possible to reveal these systems for what they are. Only then can they be changed.

Revealing one of these systems in particular, US’ Social Security Disability Insurance (SSDI), offers the genetic counseling field an urgently needed approach to patient advocacy. Adler-Bolton and Vierkant describe SSDI as a biocertification regime in which disabled bodies are not “certified” for care, but rather “de-certified” for work. In order to qualify for SSDI, a person’s disability is quantified in monetary terms with respect to a certifiable labor-limiting diagnosis. Known colloquially as “The Blue Book,” the Social Security Administration’s (SSA) medical guide for disability evaluation is the actuarial document that facilitates this biocertification, and much like the social determinants of health, it has been naturalized when it is anything but.

If the pharmaceutical industry’s drug pricing is the “extractive,” this biocertification regime is the “abandonment.” A decades long neoconservative political project has gutted the American welfare state, and another decades long neoliberal political project has plagued policy with the adverse logics of cost-benefit-analysis. What is left is a disaster worsened across the political spectrum, a fact that is the basis of critical disability studies but largely absent in today’s political imaginary.

The authors offer an important caveat about this biocertification regime, however, one that brings to mind the role genetic counselors play in the diagnosis of genetic disease: “Resisting biocertification does not mean resisting “diagnosis” or identification. It means resisting the leveraging of these certifications by capital and the state.”

Those impacted by SMA, for example, are forced to pay astronomical costs or navigate administrative burden whether they are certified for treatment through economic means or their bodies de-certified for work by the state. In either circumstance a genetic test is going to be involved, one that may even incur its own monetary cost.

It is worth noting that these genetic testing options, much like the SMA pharmaceuticals discussed earlier, are miraculous. The ability to accurately identify genetic disease is an invaluable resource and as Adler-Bolton and Vierkant say it should not be resisted. However, genetic testing plays a straightforward role as a prerequisite for therapeutics or care, and is as such complicit in reinforcing the monetary valuation of life.

This says nothing of the quality care provided by the genetic counselor who facilitates the discussion around the ordering of the genetic test, the precision of the biotechnology and bioinformatics that perform it, nor the careful review of the analysts who classify a result. These are integral aspects of our healthcare infrastructure. What it speaks to is how the process is leveraged by the pharmaceutical companies described earlier, and by the state. When aspects of health inequity are described as being “institutionalized,” this is what is meant.

As genetic counselors, we’re often a first touch point for individuals affected by genetic disease, and facilitate triaging to other medical specialties and care resources. What Adler-Bolton and Vierkant make clear in Health Communism is that the priorities of the systems and institutions in this triaging process are extractive in nature. So if our aim as clinicians is to improve the quality of life experienced by individuals affected by genetic disease, then we must first acknowledge these systems for what they are.

While the monetary extraction by the pharmaceutical industry is blatantly obvious, the abandonment by the state is more subtle, and is marked by indifference. It involves significant administrative burden to provide poverty-wage benefits. To explain, let’s look at the SSDI determination for individuals affected by SMA. While according to Social Security Ruling (SSR) 16-4p: Titles II and XVI, “With the sole exception of non-mosaic Down syndrome, genetic test results alone are not sufficient to make a disability determination or decision,” they are central to the determination process. For example, the “Suggested Medical Evidence of Record (MER) for Evaluation” policy for disability determination of someone with SMA is molecular genetic testing of SMA1, a misspelling of the SMN1 gene. It is both baffling to think this misspelling persists through document reviews and infuriating to consider whether it has led to an SMA patient’s SSDI from ever being denied and further administrative burden.

This is the true face of the system genetic counselors can provide to people who are suffering. It is an embarrassment. There is not a single better explanation as to why an SSA document could have such an egregious error than what Adler-Bolton and Vierkant present in Health Communism.

What does this mean? It means as genetic counselors we have work to do, work we were already scheduled for. The Accreditation Counsel for Genetic Counseling (ACGC)’s nineteenth practiced based competency asks that genetic counselors advocate for individuals, families, communities, and the genetic counseling profession. The twenty second practice-based competency asks that genetic counselors recognize their role in the larger healthcare system.

Our field has a serious problem, and it is about time we recognize it. One way we can start is by asking hard questions. Here is one that I have: How does an emphasis on patient choice regarding testing – an aspect of the genetic counseling delivery model built around the medical ethical principle of autonomy to create distance from a eugenic past – reinforce the logic of healthcare as a commodity to be sold in the private market?

Dan Meadows is a genetic counselor and competitive cyclist based out of Fort Collins, Colorado. He can be reached at danmeadows@pm.me