The PKU Paradox: A Short History of a Genetic Disease

Chapter 9. Who Should Procreate? Perspectives on Reproductive Choice and Responsibility in Postwar America

156 CHAPTER NINE Who Should Procreate? Perspectives on Reproductive Choice and Responsibility in Postwar America F F F When Savio Woo and his colleagues announced, in 1983, their discovery of the gene whose mutations result in PKU, they titled their paper “Cloned Human Phenylalanine Hydroxylase Gene Allows Prenatal Diagnosis and Carrier Detection of Classical Phenylketonuria .”1 Rather than highlighting the potential for gene therapy, the authors concluded by predicting that because of their work, “prenatal diagnosis of classical PKU and carrier detection should become a reality for most of the PKU families in the general population.” The focus on the reproductive implications of their research may seem surprising, especially given the frequent deployment of PKU in critiques of eugenics. Furthermore, many of the parent-professionals who passionately advocated for newborn screening for PKU, such as Robert MacCready, Robert Cooke, and Elizabeth Boggs, rejected sterilization as a means of prevention, as did the President’s Panel on Mental Retardation and the NARC.2 Robert Guthrie’s life was dedicated to preventing MR through environmental interventions—indeed, his other major campaign was eradication of childhood lead poisoning—not through avoidance of the birth of affected individuals.3 But while newborn screening advocates abjured eugenics, the reproductive issues that loomed so large for PKU researchers in the pre–World Who Should Procreate? 157 War II period would continue to be salient for some scientists, and recognition of the problem of maternal PKU would prompt many clinicians to advise women with PKU to avoid having biological children. The concern with carrier detection and the strongly directive reproductive counseling may seem at odds with the popular view that eugenics had long been discredited. On the conventional view, eugenics fell victim first to advances in genetics, which subverted its scientific assumptions, then to the Great Depression , which undermined the equation of social status with genetic worth, and finally and fatally to revelations of Nazi atrocities , which destroyed its moral authority. As Alison Bashford has recently noted, in this conventional popular and often scholarly narrative, the Nuremberg doctors’ trials of 1946–47 and the United Nations’ convention on genocide and Universal Declaration of Human Rights of 1948 (signed by 30 nations by 1967) “collectively marked the end of eugenics.”4 With its demise, the discourse of reproductive autonomy ostensibly replaced talk of the need to restrict reproductive choices on behalf of children-tobe or the larger society. In the new perspective, procreation was a private affair, there were no right or wrong reproductive decisions , and everyone had the right to start a family or otherwise fulfill their reproductive desires, whatever they might be. Or at least, this is a standard account of the fate of eugenics in the postwar era. Of course, not everyone agrees that eugenics died—either in the 1940s or later. In particular, there is an important line of argument according to which contemporary medical genetics constitutes a new type of what is variously called “backdoor,” “private,” or “consumer-oriented” eugenics.5 In this perspective, the agents of eugenics are potential parents. Responding to social norms of health, intelligence, attractiveness, and so on, they want to use genetic technologies to control the characteristics of their offspring. Thus, the view that contemporary medical genetics represents a reincarnation of eugenics does not challenge the usual chronology , according to which a commitment to procreative liberty re- 158 The PKU Paradox placed the belief that reproductive decisions should be subject to social control. Indeed, if anything, the assumption that contemporary reproductive genetics is “all about choice” reinforces that chronology. Yet this standard periodization coheres neither with the concern about PKU carriers that preoccupied researchers following discovery of the disease and reemerged in the 1960s nor with the strongly directive reproductive counseling of young women that characterized the 1960s, 1970s, and even early 1980s. Clearly, premises and practices generally thought to have been discredited by the mid-1940s persisted in at least some professional domains far longer than is usually assumed. Ever since Lionel Penrose’s famous inaugural address at University College London, the case of PKU has served to exemplify what is wrong with eugenics. But the ability to detect and treat the disease actually intensified concerns in some quarters about the human genetic future. The case of PKU helps illuminate the wider context of changing norms about the regulation of reproduction in postwar America. IN THE AFTERMATH OF WORLD WAR II As...