Genetic knowledge permeates public culture in America; what are the ideas and vested interests that shape everyday understandings of this “brave new world?” Contemporary biomedicine holds the potential to both screen out imperfect lives and to enable people with significant disabilities to survive and flourish. On the one hand, fantasies of genetic perfectibility are a longstanding part of our culture; the “genome revolution” has made such fantasies seem more possible with promises of designer babies and personalized genetic medicine and other life-extending biotechnologies. Such “soft eugenics” inform the musings of hi-tech gurus in magazines such as Wired. They color the comments of pundits on nightly television news and in feature articles in Time and Newsweek. Most tellingly, hype about genetic futures appears regularly in the Wall Street Journal and the business sections of most major newspapers.

On the other hand, disability rights activists have begun to alter the social landscape in an entirely different way. Rather than imagining perfectibility, they insist on the expansion of democratic rights to all citizens, and raise questions about the growing use of prenatal screening to prevent the birth of disabled children. Such concerns are on a continuum with ongoing efforts by many groups to normalize the presence of people with disabilities in everyday life. In part this is accomplished through the integration of visibly disabled people in popular media: we see kids with Down Syndrome and wheelchair users on Sesame Street; movies about jazz musicians with Tourette’s Syndrome; and even fashion spreads in the New York Times Sunday Magazine featuring kids with scoliosis, spinal chord injury, and cardiovascular problems in hip clothes, posed with their personal heroes.

Clearly, these two cultural domains ––“soft eugenics” and the democratization of disability--–– are increasingly part of public life in 21st century America (and elsewhere). They provide contradictory perspectives about the place of genetic knowledge in society: these tensions are particularly evident when families face choices engendered by new biomedical ––and especially reproductive–– technologies. Without clear cultural guidelines to follow, these families are placed, sometimes reluctantly, in the position of becoming moral pioneers on an unmapped genetic frontier. That new territory is most commonly encountered in the arena of prenatal diagnosis, an increasingly routine part of pregnancy care which includes a range of tests intended to identify fetal disabilities: sonograms, amniocentsesis, and blood screens such as MSAFP. Readers of GeneWatch are aware of the neo-eugenic potentialities of such tests, although in actuality, decision-making is always more complex. However, the very existence of prenatal tests assumes that parents will want to select against anomalous results. This is hardly surprising in a healthcare market dominated by the insurance industry. Cost-benefit analyses are central to the availability (and unavailability) of consumer choices: insurance companies measure the expense of amniocentesis against the potential economic burden of treating a child with atypical and possibly intensive medical needs.

Genetic Decision Making and Economies of Caretaking

The increasingly market-driven health care system is not the only determinant of how families from diverse backgrounds decide to use or forgo these technologies. Our recent research reveals that women come to their decisions regarding their amniocentesis in complex ways. What counts as a disability “worth” an abortion for one pregnant woman and her supporters may be an acceptable condition to another. Some conditions that are now diagnosable prenatally ––such as Down syndrome or spina bifida–– are feared by families on the basis of very little knowledge (and, sadly, prejudice). Others may be so unknown ––unbalanced chromosome translocations, for example–– that pregnant women decide to “take their chances” in accepting a diagnosed fetus into their lives, gambling that “everything will be all right”. It is clear that a range of factors ––religious, class, racial-ethnic, national backgrounds— play a strong role in healthcare choices and attitudes toward disability.

Reproductive decisions are not only shaped simply by “cultural values,” but also by the way that larger social transformations affect household resources, networks of support, and family aspirations. These in turn influence how people understand and act on the offer of prenatal diagnostic testing. Pregnant women’s encounters with genetic testing fuse a potent mixture of prior ideologies and realistic assessments of the labor demands on them as mothers and household managers. Women are increasingly in the workforce for longer stretches of their lives and less likely to take significant time off when caring for infants and young children. They also tend to live at a distance from the support systems of extended family and are more likely to be or become single heads of households. Thus, the balance between parenting and paid work becomes increasingly delicate, and the real or imagined responsibilities of caring for a child with disabilities takes on new meaning, especially when ending a pregnancy is still an option.

At the same time, due to the successes of modern medicine and recent disability activism, many more young people with chronic conditions are surviving and are raised at home with their families. A generation ago, middle-class Americans were encouraged to institutionalize children with the kinds of challenges now routinely reported in the pages of mainstream media and seen on TV sitcoms. Clearly, these are gains. However, the labor of caretaking still falls on “the invisible heart” of families, and disproportionately on women. Despite the Americans with Disabilities Act and other legal provisions for inclusion, it is a constant struggle to make the world accommodate those who are not typical. It is families, and especially mothers, who take up the slack between the realities of everyday life and the promissory notes of a society “beyond ramps.” (Of course, fathers frequently have been deeply involved and committed to this kind of labor, and have played exemplary public roles as well.)

These dilemmas raise important questions at the moment of genetic decision-making. Clearly, judgments about the capacity of families to care for disabled children are to be respected. While these are experienced as private, family matters, they cannot be contained within domestic domains. Who determines the social location of care? Caretaking is conventionally attached to the unpaid labor of women in the home. As a result, it is not necessarily the fear of an unknown disability that shapes genetic decision-making, but the fear of being “always on call,” as Carol Levine argues in her book of that title.

These circumstances have made caretaking a politicized arena in the US’s privatizing economy. If paid, the labor of family caregivers would cost about $200 billion a year. Nevertheless, while health insurance increasingly covers the routinization of new reproductive technologies and the costs of neonatal intensive care units, most home-based personal assistance—a need estimated at 21 billion hours yearly—goes unpaid by public funds, despite the demonstrable bodily, emotional, and economic benefits of deinstitutionalizing support. This is a skeletal sketch of the political economy of health care and assisted living "choices" that affects all Americans. Yet it is a barely visible landscape to most people unless and until their own or a family member's disability reveals its limitations on a practical, daily level. This underfunded dimension of health care needs haunts reproductive decision-making when women and their families assess what they can handle.

Increasingly, however, challenges to this situation are emerging as a result of the expanding needs of caretaking over the life cycle. Advocacy groups, such as the growing movement for Independent Living, seek public support for personal assistance, a policy which, Marca Bistro, head of the National Council on Disability, argues, "would relieve an enormous amount of stress on families and, over time. . . would begin to alter the public perception toward significantly disabled people and the people who relate to them." People with disabilities and their families have become activists for radical improvements in home-based health care and personal assistance that would enable people with disabilities to be less dependent on family members. Many of these same activists support genetic research that might lead both to prenatal tests and to ameliorative therapies. Indeed the work of caretaking and the lack of social support for it transform many parents (and children) into activists, pushing for new research and medical services.

Rethinking Genetic Testing in the Context of Caretaking

In the world of those who live with genetic disease, prenatal testing for their condition and support for those living with it are not necessarily in contradiction. Indeed they may be part of the same agenda. The activism of families with Familial Dysautonomia (FD) is a case in point. FD is a very rare autosomal recessive degenerative genetic disease that destabilizes the autonomic nervous system. Two generations ago, most children with this disorder did not survive past their fifth birthday. Now, a population of young adults is testimony to the success of complex intensive medical care – gastrostomy tubes and feeding pumps, daily cocktails of drugs to regulate the autonomic system, and therapeutic surgeries. Daily care is provided by those with FD, their family members, and some home-based medical support.

The Dysautonomia Foundation, founded by affected families in the late 1950s, is one of the oldest genetic support groups in the US. In the early 1990s it was among a handful of voluntary health organizations, associated with “orphan diseases,” to raise substantial private funding to catalyze research at a cutting-edge genetics lab to find the “FD gene.” After almost a decade, the gene was located in March 2001 and a prenatal test was quickly made available. The goals for this project were multiple. Many families wanted tests in order to avoid the birth of a second child with this severely disabling condition; among their concerns was their capacity to continue to meet the intensive care demands for the first child. For those opposed to abortion, pre-marital testing is available to avoid matches in which both partners carry the gene. Finding the gene was also intended to spur rapid progress for more effective biomedical intervention that would enable those with FD to live more medically stable lives. Once a gene is found, its underlying mechanisms can be understood and new more targeted therapies can be tested. (While most scientists agree that effective gene therapies are a long way off, some drugs based on molecular interventions are becoming a reality in contemporary medicine.)

We offer this example to complicate the polarized frames set out in our introduction that too often structure debates about genetic testing in the abstract world of “ethics.” These debates do not always take into account the real-world experiences of those on the front lines of genetic difference. We underscore the significance of caretaking (and its gendered nature) in shaping how decisions are made, how research is increasingly mobilized, and how genetic knowledge will be used. When those affected by genetic disorders participate in setting the research agendas that intimately affect their community and its future, we see a possible model in which both genetic testing and activism supporting those with disabilities and their caretakers need not be on a collision course.