The Science of Human Perfection: How Genes Became the Heart of American Medicine

  • Nathaniel Comfort
Yale University Press, 2012 320 pp., hardcover, $35.00 0300169914 | ISBN: 0-300-16991-4

Nathaniel Comfort's whirlwind tour through twentieth-century human genetics is alternately thought-provoking, entertaining and exasperating. His goal is to demonstrate a eugenic impulse that runs continuously from the early 1900s to the present. I think he succeeds in this aim to some extent. Comfort traces myriad personal and intellectual connections between Charles Davenport's Eugenics Records Office at Cold Spring Harbor Laboratory and the first wave of human genetics clinics, medical courses and departments that appeared in the 1930s and 1940s. These, in turn, provided the foundation for medical genetics as we know it today. Comfort's tale gives visibility to pioneers such as William Allan, C. Nash Herndon, Madge Macklin and Lee Dice, highlighting their keen interest in eugenics. Allan and Herndon, for example, made seminal contributions to our understanding of conditions such as retinitis pigmentosa and the peripheral neuropathies and created clinics for what we would now call genetic counseling. They also did not shy away from sterilization, in some cases involuntary, to prevent the births of children with genetic diseases.

Comfort uses this observation to support his argument that medical genetics supports the use of negative eugenics approaches to reducing the burden of genetic disease. The term 'negative eugenics' is ambiguous, however, a point Comfort never fully acknowledges: there is a salient difference between the use of state control to prevent reproduction or immigration of those deemed genetically 'unfit' and the offer of reproductive choice, including pregnancy termination, to those at risk of having children with genetic disease. Medical genetics, even in its initial stages, differed from the earlier eugenics movement by its focus on the needs of affected individuals and their families. Arguably, the primary motivation for this shift was relief of suffering. Comfort is right to suggest that the focus on health care was not the whole story, but in my view he underestimates its power. Comfort's discussion of positive eugenics is similarly lacking in nuance. As a result, he offers little insight into the differing political and scientific implications of such disparate elements as campaigns to encourage reproduction among the affluent, pseudoscientific justifications of racist bias and speculations about molecular manipulation of human evolution.

He is on firmer ground when he points out the rewriting of history implicit in the designation of Victor McKusick as the “father of medical genetics.” McKusick was certainly an iconic figure, but as Comfort documents, there was a seamless progression from the clinical programs of Allan and Dice to the burgeoning of human genetics spurred by McKusick in the 1950s and 1960s. In 1949, the founding president of the American Society of Human Genetics, H.J. Muller, called for “rationally directed guidance of reproduction” to save humanity from a lethal mutational load. Dice, serving in 1951, offered a more patient-centered vision. Although he espoused eugenic goals, he also articulated the core commitment of medical genetics to patient autonomy, stating that geneticists should never “advise a couple whether or not to have a child.” McKusick, who served as president of the society in 1974, used his own presidential address to celebrate scientific progress in human genetics.

At this point a striking absence can be noted in Comfort's account. There is no mention of newborn screening, a central development in McKusick's era, or of other scientific developments that could provide hope to families with genetic disease. Instead, Comfort keeps his focus on eugenics, arguing that the “eugenic impulse arises whenever the humanitarian desire for happiness and social improvement combines with an emphasis on heredity as the essence of human nature... This impulse is noble in spirit but, unleavened by an equal impulse to improve the conditions of life, it is deceptive and ultimately impoverishing.” From this perspective, newborn screening is the very opposite of eugenics. Comfort's narrative misses this point and generally ignores the growing list of interventions that improve health outcomes in genetic diseases. He also gets a few facts wrong: it was Nancy Wexler's mother, not her father, who had Huntington's disease, and although Wexler, a social scientist, played a key role in gene discovery, she did not clone the gene encoding huntingtin.

As the book fast forwards, Comfort demonstrates how persistently social biases have plagued genetics. He reviews James Watson's fall from grace, occasioned by his use of genetic explanations to affirm defamatory racial stereotypes. Notably, in 2007 Watson made remarks suggesting that Africans had inherently lower intelligence than other racial groups. As Comfort notes, “In the end, [Watson] fell prey to the same temptation to which old Progressive eugenicists had succumbed: he let genetic determinism amplify his prejudices and biases. It is, perhaps, an occupational hazard of those who think about genes too much.” Comfort's point is well taken: the use of genetic determinism as a convenient explanation for social group differences unfortunately still occurs among both scientists and the public. Nevertheless, it is telling that Watson's remarks, which would have been unsurprising in Davenport's time, led to his dismissal from the directorship of Cold Spring Harbor Laboratory.

The early chapters of human genetics remind us of two difficulties in scientific research: progress is often painfully slow, and science must continually struggle to free itself from bias, oversimplification and hubris. Comfort's selective version of the story makes him an unreliable (if entertaining) narrator, but ultimately, he brings these central messages home. His book is a spirited anecdotal discussion of key players and scientific concepts during the rise of human genetics in the United States. It will appeal to anyone who takes an interest in this history and may be of particular value to medical geneticists as a reminder of the complicated origins of their specialty.