Identity and the new eugenics in the Newborn Screening Saves Lives Act

The Newborn Screening Saves Lives Act

In the United States, Penelope Ironstone (2011) argues, the erasure of the New Deal and the US state’s increasing divestment of the care of its citizens (including cutting programs upon which people with disabilities depend for their very survival) has produced a cultural climate of anxiety that is central to the affective realm of neoliberal governance. In particular, Ironstone is interested in the ways that the perpetual state of anxiety we find ourselves in is sold to us as being able to be assuaged by what she terms ‘palliative commodities’: tools of self-defense against an uncertain future in which we must be able to take care of ourselves. Genetic testing is a commodity that we are legislated to invest in through Americans’ mandated participation in the Newborn Screening Saves Lives Act (NSSLA).

The NSSLA was introduced in 2007 and signed into law in 2008. Among its goals were providing ‘screening, counseling, or health care services’ for what it termed ‘heritable disorders’ as well as educational services to both healthcare providers and families of newborns about these same health issues. This piece of legislation meant that newborns would be screened for a dramatically increased number of disabilities and health conditions. Deviating from earlier criteria that newborn screening should be conducted ‘only if early detection and treatment could avert serious harm to the affected child’ (Clayton, 2010: 698), the new tests include conditions which occur very rarely, including diseases which have an incidence ‘of less than one per one hundred thousand live births’ and are not yet well studied (Crowe, 2008). Nevertheless, in introducing the legislation, Senator Dodd claimed that ‘one in 4,000 babies is diagnosed with one of these disorders’ (Dodd, 2007). It is unclear how Dodd arrived at this statistic, as doctors involved in research on the diagnosis of genetic diseases in newborns noted one year later that there were no long-term studies that would yield this type of information (U.S. Department of Health and Human Services, 2008). Thus, Dodd’s conclusion that ‘newborn screening could protect the health or save the life of approximately 1,000 newborns each year.… That is 1,000 tragedies that can be averted families that can know the joy of a new infant rather than absolute heartbreak’, seems difficult to prove one way or the other. Dodd additionally claimed that: ‘If diagnosed early, all of these conditions can be successfully managed or treated to prevent or mitigate severe and often lifelong health problems.’

Simply knowing that your child has a genetic disease, however, does not mean that there is treatment that works. Moreover, even if there is possible treatment, many patients may not be able to afford it and, in a for-profit healthcare system, it may have serious implications for long-term insurability, despite attempts to prevent this with the passage of the Genetic Information Nondiscrimination Act of 2008.

In addition, testing newborns can reveal information about other family members that they may not have wanted to know. For example, newborn screening may act as an impromptu and unwanted paternity test. Finally, Twila Brase argues that ‘the risks of genetic testing may not be obvious because the primary risks are psychological, social, and financial’ (2007: 4). Learning that your newborn has a condition can affect many different aspects of life, including the parent–child bond, decisions whether to stay in or leave jobs based on health insurance and the decision as to whether or not to have more children (Morrison and Clayton, 2011).

It is important to note that informed consent for newborn genetic testing is ‘almost universally’ not obtained (Carnahan, 2010). Even if the parents wish to have genetic testing done on their child at birth, they may still not want the blood sample taken to be used for research. And yet, at least 28 states have no written policy governing the retention of newborn blood. Blood spots (the blood taken at birth from a newborn’s heel) that are stored for longer than three months are generally useful only for research purposes. It is problematic to ask parents to consent to letting their newborn’s blood be used for all future medical research given that there does not yet exist a formalized research protocol (Carnahan, 2010). For example, parents cannot currently withhold consent from allowing their newborn baby’s blood to be used in research projects that they find objectionable, such as cloning or race-based research. This is especially troubling given the links between genetic testing and racist science. One Native American community has already sued medical researchers for collecting genetic material from them and then going beyond the original purpose of the research (to study diabetes) and additionally studying inbreeding (McGregor, 2010).

Pompe disease

In 2008, the Advisory Committee on Heritable Disorders in Newborns and Children met to discuss the merits of adding a number of diseases to the ‘mandatory test’ list following the ratification of the NSSLA. Pompe disease was one of the conditions whose addition to the list was being considered. Pompe disease is a rare heritable disease in which a baby is born without the enzyme acid alpha-glycosidase. This enzyme breaks down glycogen, which results in problems for the heart and skeletal muscles. Most newborns born with Pompe disease die before their first birthday (National Institute of Neurological Disorders and Stroke, 2011). As of 2008, the only population-based study on Pompe disease was conducted in Taiwan, and the study did not distinguish between late-onset screening and early-onset screening (U.S. Department of Health and Human Services, 2008). In fact, there remain definitional issues around identifying Pompe disease as ‘there isn’t a very clear definition of what we mean by a case of positive Pompe’s in the presymptomatic phase’ (U.S. Department of Health and Human Services, 2008). All treatment trials were conducted on children who have already demonstrated clinical symptoms of the disease, so there is no study of newborns being helped by treatment before they have exhibited symptoms (U.S. Department of Health and Human Services, 2008). Moreover, false positives are a problem in testing for Pompe disease. In the Taiwanese study, there was a substantial number of children who had to come back for a second test. ¹ There are almost no studies of the possible harm done by early Pompe treatment (U.S. Department of Health and Human Services, 2008). Although there is evidence that earlier treatment helped with the disease, there was ‘no evidence . . . relating to whether there are benefits of early identification’ (U.S. Department of Health and Human Services, 2008). Despite the unclear data, and although it has not yet been recommended officially by the committee, Pompe is now included in mandatory newborn screening in three US states; it is not yet mandated for inclusion in all states as part of the NSSLA.

Given the lack of research and data on the implications of testing for Pompe disease, why is it mandated by law in any state? Many have a vested interest in seeing this law come to pass. Test kits now need to be bought and test centers established, yielding considerable benefits for companies. Genzyme sells test kits for Pompe and stands to make substantial profits. Genzyme is additionally battling it out with other companies to get a drug on the market for Pompe. Shire Pharmaceutical Group already had a pharmacological chaperone aimed at treating Pompe in Phase 2 clinical trials as of 2008. It is not surprising that Shire Pharmaceutical Group was one of the principal contributors to the campaign to get the NSSLA passed, with a total contribution of $140,000 over four years. ² Of course, the data obtained from collecting bloodspots from newborns’ heels in order to test for these disorders is also valuable to medical researchers. Clearly, capitalism is a major player in the drama of newborn screening, as big pharmaceutical companies have a vested interest in seeing a particular disease ‘fixed’ as a stable identity that can be read off the body, ensuring profits through disability screening. While expressing doubts about testing for Pompe, one doctor noted that he thought it was likely to come to pass despite the unclear evidence in favor of testing:

But my guess is that we’ll be ready to do this in a couple of years, and it will probably be driven by industry. Somebody … will come up with a kit that can be used, and I think that’s where we’re headed. I can’t imagine how we could possibly put something into production now that’s so labor-intensive and has such an extraordinarily high false-positive rate. (U.S. Department of Health and Human Services, 2008)

This doctor’s comment has proved prescient. Profit motives are clearly a factor in getting Pompe included on the list of mandatory diseases to test for in some states, despite the lack of medical data as to the effectiveness of screening.

In addition to the economic reasons driving the addition of Pompe to the list of genetic diseases tested for at birth, we must also think about the affective motivations driving the inclusion of Pompe. As Robert McRuer (2006) reminds us, although reading disability off the body is a process that depends upon practices of inscription, reading and interpretation that are assumed to be transparent and self-evident, it remains complex, ambiguous and, as a result, inherently problematic. The complexities in the data reviewing testing for Pompe disease reveal that it is not easily read off the body. Genetic testing can be seen as a new form of identity management that claims that Pompe disease is a stable entity that can reliably be tested for and treated. In this way, rather than the claim of multiple identities, an assertion so helpfully problematized for us by van Zoonen’s introduction, what we see here is a rigid and inflexible definition of bodily identities. Under neoliberal conditions in which having a body fit for capitalism is of paramount importance and in which the production of stable identities can yield significant profits, the suggestion (legally codified in the NSSLA) is that we need to make ourselves responsible in order to take care of our health and that of our children. In this way, newborn screening works as a palliative commodity that is meant to assuage our anxiety while never in fact soothing it entirely (and often serving only to increase it through false positives and unclear test results). Tests for Pompe are ‘commodities that are consumed not to provide a cure for anxiety and fear but work … to render them manageable for an increasingly responsibilized self’ (Ironstone, 2011: 15). In this way, these tests help us to feel that we are doing something despite the fact that it remains far from clear that the test reliably reveals this disease, or, even if it does, that there would be effective treatment. That is, although it does not necessarily yield better health outcomes, access to treatment, or peace of mind, testing for Pompe is a palliative commodity that:

serves as a prophylaxis against both the self (who lacks mastery, is afraid, anxious, uncertain, doesn’t know who to trust, is vulnerable to infection, and is risky) and others (who scare us, make us anxious, are uncertain, untrustworthy, contagious, and risky). (Ironstone, 2011: 17) ³

Of course, these palliative commodities allow companies like the Shire Pharmaceutical Group to profit from our collective anxiety about disability. Thus the continual scrutiny and surveillance of the body is one means by which participation in legislated rituals of medical consumption is imagined to be able to sanitize the body from disability.

Eugenics

Of course, the attempt to eliminate disability through newborn testing must be seen in a longer history of a close relationship between medical screening and eugenics. In her book Bodies in Glass (1997), Steinberg shows that medical genetic practices such as in vitro fertilization (IVF) have a eugenic logic in which fit families are imagined to exclude queer people, racialized people and people with disabilities. The desire to use new genetic screening in order to produce more white babies is also brilliantly theorized by Roberts in her groundbreaking book Killing the Black Body (1997). That is, screening for genetic ‘defects’ has a long history rooted in the policing and surveillance of the intersection of racialized, queer and disabled bodies. The history of eugenics in the United States reveals the intimate relationship between the forcible sterilization of people with disabilities, people living in poverty and people of colour. ⁴ For example, sterilization policies were forcibly implemented in schools for the ‘feebleminded’ (sic) and prisons, and were promoted by eugenics societies through nativist discourses advocating the sterilization of immigrants to the US as well as racialized communities. ⁵ Given that one of the suggested ‘positive’ implications of newborn screening is that individuals with an inherited disease might refrain from having another baby if they first have a child with a genetically inherited disability, the connection of newborn screening to eugenics is clear. Instead of making people healthier, the ties of newborn screening seem much more grounded in a eugenics movement aimed at eliminating disability and garnering corporate profit.

In thinking about the collection of the data gained at birth through newborn screening for research purposes, we need to consider its implications for the production of racist science. As many have noted, despite the fact that the assertion that race is biological has been long debunked, ‘nevertheless, racial and ethnic classifications have been resuscitated and gained importance’ (McGregor, 2010: 23). Genetic data from racialized communities is being studied in medical research in ways that are deeply troubling. For example, research projects include examining the genetic disposition of some Native communities to schizophrenia and inbreeding (McGregor, 2010). Genetic research can easily obfuscate the role of the social determinants of health or the impact of racist trauma on health in favor of reifying the impact of genetics. This is a process that Donna Haraway has elsewhere called ‘genetic fetishism’, in which our genes are imagined to contain an exact blueprint for our lives, including behavior (Haraway and Goodeve, 2000). The collection of genetic data that can then be used for troubling research projects also raises concerns about the relationship of the NSSLA to eugenics.

Conclusion

From biometric technologies (Martin and Whitley, 2012, in this volume) to RFIDs (Michael and Michael, 2012, in this volume) to ICTs (Lips, 2012, in this volume), we have seen that identity management systems deliberately produce static identities in ways that facilitate corporate gain and state management of its citizens. Again, with newborn screening, we find a form of identity management that produces disability as a static, essentialized identity that may be easily read off the body. As van Zoonen’s introduction shows, from the surveillance and exclusion of Muslim women in France to the Dutch refusal to let newcomers hold multiple passports, this push towards reified identities is one that is both gendered and racialized. In this article, I have also examined how the push towards a static form of identity is connected to disability. In examining the comprehensive newborn screening program mandated by the NSSLA, we find its consequences far more complex than simply keeping newborns safer. In analyzing Pompe disease, it becomes clear that, although testing is held up as able to easily read disability off the body and then provide the appropriate treatment, this is far from the case. Following Penelope Ironstone, I argued that newborn screening serves as more of a ‘palliative commodity’: testing becomes a structure of knowledge that we must invest in if we are to keep our children safe from harm. Of course, newborn screening is also a commodity that generates significant profits for biotechnology companies and for Big Pharma. Including a new test that has limited effectiveness for improving health outcomes, but that is a waste of money – in terms of the cost of screening, clinician hours as well as the emotional cost to patients in terms of stress – is unconscionable.

This type of newborn screening suggests that disability is a choice, one that we can avoid if only we take sufficient responsibility for ourselves. I would like to be clear that I am not against newborn screening. However, I am curious at the eagerness of states to implement screening for heritable diseases that it is unclear can be identified at birth, and for which there is limited treatment. Thinking about the stakes that lobby groups have in this process, and reflecting on the consequences of implementing these programs broadly across the nation, I call into question the assertion that the surveillance of newborn health necessarily keeps us all safer. Rather, I have attempted to highlight the implications for the mental health of parents, the burdens of false positives, and the possible consequences for institutionalizing medical practices which have a long history of deep connections to eugenics projects.