Saturday, April 16, 2011

Making the Genes Fit: Genetic Explanations for Autism and Their Political Implications

EXECUTIVE SUMMARY: Political-science professor Kristin Bumiller has written another long article on the politics of autism; while her earlier article focused on the neurodiversity movement, this article is mostly about mainstream autism advocacy in the vein of Autism Speaks. In it, she argues that mainstream discourse about autism assumes that autism is a genetic condition, and that this assumption is insufficiently backed by evidence. She spends most of the article detailing the political implications of this assumption, which are 1) funnelling most activism on the part of families of autistic people into relatively narrow channels of corporate-philanthropic fundraising for biomedical autism-research initiatives, rather than calling for broader social changes that might benefit autistic people; and 2) making disability an individual, rather than a social, issue.

She introduces several concepts over the course of developing those themes: "geneticization" --- a process by which the preferred explanation for sickness and disability is that some people are genetically susceptible to certain illnesses; "genetic citizenship" --- an ethic of individual responsibility for health, and for knowledge of one's genetic predispositions; and "life optimization" --- a strategy for making the most of one's (or one's child's) life chances given a certain set of genetic predispositions. She makes the case that the latter two of these things are logical responses to a genetic understanding of disease and disability in a "neoliberal welfare state" like the U.S., but also that they are inherently coercive and inegalitarian.

Looking through the online archive of the women's-studies journal Signs, I found another article on autism by the political scientist Kristin Bumiller. (I did a series of three posts a while back about her 2008 article "Quirky Citizens: Autism, Gender and Reimagining Disability," which I thought made a lot of really good points). The more recent article, published in the summer 2009 issue of Signs, is called "The Geneticization of Autism: From New Reproductive Technologies to the Conception of Genetic Normalcy."

That odd word, "geneticization," gives you a clue as to the article's main premise: it implies treating autism as if it were genetic when it may or may not really be genetic.

Here is how Bumiller introduces the term and relates it to autism:

The term "geneticization" refers to the growth of genetics as a means to account for and explain health and disease and the process by which biological conditions constitute social definitions of normality and abnormality (Lippman 1991, 18). Abby Lippman coined this term in a feminist analysis of the growing influence of genetic determinism on public policies and private practices regarding pregnancy and health care and to emphasize the gender, race, and class implications of this trend. In particular, Lippman identified the need to study how genetic interventions affect health management in a variety of economic and social contexts. Feminist scholars have been wary of the coercive and normalizing power of medical professionals, yet they have also demonstrated the complex implications of biomedical advances. As Donna Haraway has persuasively argued, it makes little sense to be "simply oppositional" in response to this new technological future because we are deeply implicated in scientific progress (Haraway 1997, 3).

The shift in the autism field was first generated by the efforts of parents with autistic children, who were responding to regressive beliefs within the medical field. The scientific and popularized explanation for autism prior to the 1980s perpetuated a theory that pathological mothering was at the root of the disorder. Bruno Bettelheim (1979) is especially noted by critics for his view that childhood disturbances associated with autism did not arise spontaneously but resulted from extremely abnormal mother-child relations. Bettelheim's understanding of the condition is drawn from the seminal work of Leo Kanner (1943), who distinguished autism from schizophrenia as an innate or inborn disturbance of affective contact but also thought that the notable coldness and formality of the parents usually had some effect on the development of the condition. The hypothesis that autism can be attributed to a general lack of maternal warmth is called the "refrigerator mother" theory of autism, and it did not come under direct attack until Bernard Rimland criticized it in his 1964 book Infantile Autism: The Syndrome and Its Implication for a Neural Theory of Behavior. Both a parent of a child with autism and trained as a physician, Rimland undertook scientific work and activism that played a central role in recasting autism as a medical condition with distinct psychological symptoms that could potentially be remediated through diet and other therapies. In an era when parents of children with disabilities were beginning to organize and seek legitimacy, parents of autistic children embraced new biological explanations.

She goes on to describe a gradual narrowing of focus from "biological" explanations to specifically genetic ones, starting when researchers conducting twin studies found a strong pattern of heritability in autism. Later research identified a "broad autism phenotype" in parents and siblings of autistic children*, which added to the impression that it runs in families. But research into specific genes has failed to find much --- many candidate genes have been found, but each one only accounts for a tiny fraction of cases of autism. However, this review on the genetics of autism, published this month in Genetics in Medicine, estimates the total proportion of autistic people who have one of the genetic variations discovered so far at about 25%, which is actually a decent-sized chunk. Couple that with the relative newness of microarray-based comparative genomic hybridization --- the technique responsible for turning up a lot of these candidate genes --- and you see that it might be a bit premature to declare genetic research moribund**.

Kristin Bumiller thinks the continued assumption that autism must be a genetic condition has persisted beyond what the available evidence argues for, and that the idea that it may have environmental triggers is dismissed too readily. (I think the issue of whether the case for a genetic basis for autism is overstated or not is a bit more complicated; see above paragraph).

I do not argue with her assessment of the different political implications of genetic vs. environmental causes of developmental disability; if the former idea (i.e., that it's genetic) is widely believed, then each citizen is responsible for knowing hir own genetic status and making whatever reproductive choices follow from that status, while, if autism and other developmental disabilities are thought to be triggered by some environmental contaminant, then the responsibility falls to the government to enact stricter controls on neurotoxic pollutants. (Both of these scenarios presume a social context whose primary emphasis is on preventing, rather than accommodating, disability. In a less ableist society, deciding whether or not to have children if you're a carrier of [whatever] genes would be much less fraught with emotion and social pressures, although I think we'd want to limit pollution even if we weren't constantly told that developmental disability is a tragic waste of life).

Bumiller calls the individual-responsibility scenario "genetic citizenship": you become a member of a community of people affected by a given genetic disease, and that community advocates for research funding and participates in studies to help speed the development of cures or therapies:
The concept of genetic citizenship has been introduced to describe individuals in the age of biomedicalization who engage in a new style of activism related to their inheritable identities and differential embodiment (Heath, Rapp, and Taussig 2004). This concept is most frequently applied to situations in which individuals and family members affected by a genetic disease come together and take an active role in fundraising, advocating, and influencing scientists in the hope of finding a cure. In the past decade numerous disease-specific advocacy organizations have exercised significant influence over research priorities, affected capital allocation, sponsored gene banks, and demanded collaboration in the pursuit of real progress for people living with genetic diseases (Terry et al. 2007). This participation also takes advantage of new networking opportunities created by the Internet and the emergence of virtual communities. These citizens are seen as having cast off the role of passive patients to become active consumers of health services. As collectivities they have strived to maximize their influence on the development of new science, technology, and medical knowledge (Rose 2007, 23).

Autism advocacy provides an important vantage point from which to evaluate the presumed desirability of genetic citizenship because its activism is complicated by intense controversies about the significance of the genetic link and about the social identities of autistics. With the expansion of biomedical research in the field, much autism advocacy has shifted from promoting the well-being of affected families and children to searching for a cure. These new organizations, now consolidated under the banner of Autism Speaks, primarily promote biomedical research and are modeled on other fundraising campaigns that draw attention to the plight of people who suffer from rare diseases. ...
Prior studies of genetic citizenship have raised concerns about how the victories of new genetic movements may reflect a questionable convergence of individual interests and market forces and have noted how research priorities are driven by profit motives (Duster 2003a). Similar issues arise in the context of autism; much of this research is conducted in collaboration with high-profile genetic laboratories and large biotech corporations such as deCODE Genetics. This research is given priority despite uncertainty about whether and how genetic information will eventually be useful for pre- or postnatal genetic screening, diagnosis, or treatment methodologies. Both the irresolution about the potential benefits of genetic research and the oversimplifaction of its significance in the media diminish the power of consumers and the general public to either shift priorities or call for more transparency on the part of medical professionals. Moreover, the current focus on instrumental (and uncertain) goals rather than more broadly framed issues of social justice and welfare limits the role of disease-specific advocacy organizations in setting priorities (Stockdale 1999). Specifically in the case of autism awareness, it has been shown that since public discourse has focused on the medical paradigm --- particularly on efforts to find a cure --- there has been less focus on the rights and social welfare dimensions of the issue.

So there are good and bad things about this trend toward people organizing and cooperating with pharmaceutical and biotechnology companies to raise money and set research priorities. People are able to find other people --- whole communities of people --- who share their circumstances, and can thus pool their knowledge, resources and coping skills in ways they couldn't before, when each person essentially had to work everything out for hirself. That's a good thing; it's also a good thing that people affected by various conditions have a way to tell the scientific and medical communities what they need most.

What's not so good is the fact that the "partnership" between grassroots advocacy groups and corporations is so lopsided; this restricts disease-based activism to the corporate-philanthropic model of fundraising for biomedical research, when it might include that and campaigns for social changes geared toward creating a healthier society.

The other things Bumiller thinks are bad about the "genetic citizenship" model are its tendencies to coerce people into making certain health and reproductive choices, to exacerbate social and economic inequalities, and to put a heavy burden of responsibility on women as guardians of their families' health:
[D]isability activists have illuminated the implications of wide-scale genetic screening for the devaluing of disabled lives, particularly as the lines between state policy and individual choice are becoming increasingly blurred. Despite the well-established obligation of physicians and genetic counselors to provide nondirective advice, studies have found that patients were given information that imposes professionals' views about the usefulness of genetic knowledge and the parental responsibility to promote fetal health (Rapp 1999). This research has shown that professionals effectively delivered the message that the only rational choice is to give birth to a "normal" child. Genetic testing is now understood as a necessary component of preventative public health programs, largely as a result of the trend toward universalized testing and mandatory screening of newborns (van den Daele 2006). This shift has transformed prenatal testing from an option individual women are given to lower their risk of having a child with a genetic defect to a system of reducing overall health problems in the population (Ward 2002). ...
The research on prenatal counseling has also shown that professionals often frame genetic testing as necessary for socially responsible parenting. One study found that counselors presented prenatal testing as something women need in order to become good parents (Lippman 1991). In this sense, good parenting is about having the knowledge and resources provided by this testing and then following through in a socially responsible fashion. As genetic testing is fully incorporated as a standard of care for pregnant women, the act of refusal is no longer about the assumption of individual risk. Now, the noncompliant woman has failed to take advantage of an important opportunity to maximize the life chances of her child. Such actions are likely to be seen as contrary to good citizenship in an age of biopolitics, where the technologies of biomedicine have created a context in which "biology is not destiny, but opportunity" (Rose 2007, 51) and the desired course of action is to follow a strategy of life "optimization" (6). This strategy, according to Nikolas Rose, is "not eugenics but is shaped by forms of self-government imposed by the obligation of choice, the desire for self-fulfillment, and the wish of parents for the best lives for their children." He goes on to say that "its logics and its costs deserve analysis on their own terms" (69).

To see this as part of a new regime of choice is to fail to recognize the unintended consequences of life optimization in regard to the regulation of normalcy. A recent ethnographic study on the influence of new genetic knowledge on Belgian insurance companies aptly illustrates this dynamic at work. Ine Van Hoyweghen, Klasien Horstman, and Rita Schepers (2006) investigated how insurers take account of predictive medicine in the process of determining premiums. They describe the companies' decision making as a process of "making the normal deviant" because when insurers make judgments "the margin of being normal is actually quite small and the scope for deviation is quite wide" (Van Hoyweghen, Horstman, and Schepers 2006, 1229). They find that when insurers rate people with genetic predispositions they put extra emphasis on how they have managed their health. ... [I]nsurers impose a greater responsibility for optimally managing one's health on people with known risk factors. The authors' conclusions have serious implications for the social costs of life optimization: "Instead of a 'genetic determinism,' it seems more plausible that we are all subject to different levels of susceptibility. ... As a consequence, ... the individual's lifestyle habits, preventive initiatives and compliant behavior in relation to these susceptibilities could be stressed more" (Van Hoyweghen, Horstman, and Schepers 2006, 1233). The actuarial process imposes a norm that defines suitable lifestyles for people with risky genes. This creates an incentive system for genetic "deviants" to conform to normal expectations of proper lifestyles in order to satisfy social expectations.
The concurrent forces of life optimization under conditions of biomedicalization and demands for personal responsibility in a neoliberal welfare regime make the determination of a disabled person's worthiness central to the process of gaining public health resources. The rights afforded to people with disabilities are more available to those who are good genetic citizens and can demonstrate their strict compliance with social norms. For example, special education provisions rely on eligibility and service determinations that are individualized and ad hoc rather than derived straightforwardly from medical diagnosis. As a consequence, parents with poor genetic literacy often have trouble convincing schools that their children's behavior is the result of a biological condition rather than their bad choices as parents. In social security disability determinations, each case is processed according to subjective criteria used to measure a person's ability to work. Studies show that success in claiming disability depends on a person's ability and willingness to persevere through the application process (Bilder and Mechanic 2003). Since most claims are routinely denied and these denials lead to a lengthy appeals process, only those who are unusually skilled at conveying medical knowledge, or at enlisting the assistance of medical professionals, are likely to have their applications eventually approved.

These systematic processes have the effect of distinguishing between disabled people who are at low risk and those who are at high risk for becoming dependent on the state. Social policies that rely on dividing people up according to risk groups also cut against the organic sense of solidarity that develops among people with disabilities (or among their advocates and caretakers). These systems of classification rely on distinctions that are often contrary to a dynamic and inclusive sense of citizenship among people with disabilities. The overall effect of a person's genetic status interacting with other forms of inequality is to create conditions of "cumulative social and economic disadvantage" and consequently to reduce opportunities to participate in civic life (Kelly 2002, 181).
I don't think Bumiller is endorsing any kind of conspiracy theory, or that she believes some secret cabal of biotechnology executives ever held a meeting and drew up a plan to seize control of the emerging wave of health activism. Similarly, I don't think she thinks doctors and genetic counselors are trying to "regulat[e] normalcy"; both of those things just happened, as new technologies and social movements were assimilated into a corporate-dominated, individualistic society. No human masterminds or conspiracies --- indeed, any planning or intention at all --- need ever be involved.

These are all the things I agreed with in Bumiller's article; there's also some stuff I have problems with (besides my differing assessment of the state of research into the genetics of autism), which I will write about in a later post.

Bumiller, K. (2009). The Geneticization of Autism: From New Reproductive Technologies to the Conception of Genetic Normalcy Signs: Journal of Women in Culture and Society, 34 (4), 875-899 DOI: 10.1086/597130

*Not everyone who studied relatives of autistic children found this broad autism phenotype --- this 1994 study of 44 families with multiple autistic children found that the non-autistic siblings did not display any noticeable autistic-like traits; "in the vast majority of cases, children [were] either clearly affected or clearly unaffected". But from what I can see, most of the studies published on this topic did find evidence of a broad autism phenotype, although positive results may be overrepresented among published papers just because positive results are more often published than negative results.

**You could still criticize it on other grounds, from the potential for eugenic applications of genetic research to the questionable wisdom of using limited research funds to pursue such theoretical questions ("Where does autism come from?") rather than finding out what works to improve autistic people's lives and enable them to participate in society to a greater extent.

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