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| ISBN-13: | 9780300188875 |
|---|---|
| Publisher: | Yale University Press |
| Publication date: | 09/25/2012 |
| Sold by: | Barnes & Noble |
| Format: | eBook |
| File size: | 1 MB |
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The Science of Human Perfection
HOW GENES BECAME THE HEART OF AMERICAN MEDICINEBy NATHANIEL COMFORT
YALE UNIVERSITY PRESS
Copyright © 2012 Nathaniel ComfortAll right reserved.
ISBN: 978-0-300-18887-5
Chapter One
The Galton-Garrod Society
IN ABOUT 1950, FOUR RESEARCHERS AT Johns Hopkins University did a very ordinary, very significant thing: they started a journal club. For decades, journal clubs have been a staple of laboratory life; every basic scientist I know attends at least one. They are informal groups, often with no criteria for membership beyond interest. Science being the focused enterprise that it is, the clubs usually draw from one or two laboratories. Occasionally a colleague from a neighboring department is invited to join. Typically, they meet weekly or biweekly, reading a recent paper, then convening to discuss it. On a rotating schedule, one member leads the group in critically dissecting the paper, figure by figure. Forming a journal club is thus a commonplace; but this one was special.
First, it was interdisciplinary. Victor McKusick was from the Department of Medicine, Barton Childs from Pediatrics, both in the School of Medicine. Abraham Lilienfeld was from Epidemiology, in the School of Public Health and Hygiene. H. Bentley Glass was from the Department of Biology, in the School of Arts and Sciences, across town on the undergraduate campus. Four departments and three schools of the university. Such broad crosspollination is almost unheard of today.
Second, the subject of the club was medical genetics, an exotic and sensitive theme. The diverse backgrounds of the group's members reflected the range of interests and expertise that have gone into medical genetics. It's a specialty that crashed the national borders distinguishing medicine, science, and public health, and crossed many state lines within each of those nations. Also, it still slightly upset the border patrols. Because of its association with Progressive-era eugenics, medical genetics still carried a whiff of suspicion among physicians, particularly at top-tier schools like Hopkins. It took some courage to form the group.
Third, although the journal club wasn't the start of medical genetics at Hopkins, it was the moment of nucleation, the first stirring of anything that looked like organized medical genetics at Hopkins. In the following years, the Johns Hopkins medical school became a hub for the field, which a few years hence expanded and professionalized rapidly, evolving into contemporary genetic medicine, including the Human Genome Project, gene therapy, biotechnology, and large sectors of the pharmaceutical industry. The club thus looks like an origin moment, however symbolic, for a discipline that has an enormous impact on our lives today.
But fourth, looking backward, the club's formation can be interpreted as the integration of historical and intellectual traditions stretching back to the nineteenth century. It is therefore better read as a node, a point of convergence, than as an origin. As such, it gives insight into that which came before, as well as that which followed. We begin, then, at the temporal center of our larger story.
The Hopkins researchers named the club historically, with an eponym that can stand for the central theme of this book. They called their group the Galton-Garrod Society. "Galton" referred to Francis Galton, a cousin of Charles Darwin, a polymath, a pioneer in statistics, and well known as the person who coined the term eugenics. "Garrod" was Archibald Garrod, a younger contemporary of Galton's and like Galton a Londoner. Garrod was a pediatrician interested in biochemistry who—in collaboration with the English naturalist William Bateson—described the first Mendelian trait in human beings. In naming their reading group after Galton and Garrod, the Hopkins researchers identified the two men as the twin founders of medical genetics. This seems to me astute and revealing, both in ways the Hopkins researchers intended and in ways they certainly did not.
I want to use Galton and Garrod as totems of the paired, opposing forces whose interactions, I suggest, have shaped the contours of medical genetics as it developed over the twentieth century. They are the two sides in a dialectic: the tension between them is like a spring, storing the driving energy that propels the field. As the chapters unfold, we will see how the Galtonian and the Garrodian tumble down the decades, evolving out of Progressive-era eugenic human genetics and eventually dissolving into each other, producing modern genetic medicine. By way of introduction, then, let us define Galtonian and Garrodian through brief looks at the lives of their namesakes. We will also need a detour, to dip into the life and work of Bateson, Garrod's crucial collaborator, and into the origins of the Mendelian genetics without which neither Garrodian nor Galtonian thought is comprehensible.
* * *
Francis Galton has an oddly polarized legacy. Some biographers revere him as an eclectic genius and a pioneer of population biology. Yet others have treated him as something of a buffoon—on the cover of Martin Brookes's recent biography, for example, Galton reclines in a bathtub, absurd and undignified. Both poles capture some of the truth.
Born in 1822 near Birmingham, England, he was the last of seven children. His mother, née Violetta Darwin, was a sister of Robert Darwin, Charles Darwin's father. The young Darwin had been a happy and unremarkable child, a mediocre student at best. His cousin Francis Galton, on the other hand, was a prodigy. He might have been merely bright, had not a zealous and bored invalid sister coached his native gifts to remarkable heights. He was a poster boy for the interaction of nature and nurture.
As Robert Darwin had done to his sons Erasmus and Charles, Galton's father pushed him into medicine—and like his cousins, Galton ultimately rejected it. He studied medicine at Birmingham General Hospital and then at King's College in London, before enrolling at Cambridge in mathematics. He studied obsessively. When his stamina faded, he unlimbered his Gumption Reviver, a large funnel that dripped water on his head at an adjustable rate to keep him awake. Under the strain of his intense study, he experienced repeated breakdowns, partly as a result of his perfectionism and anxiety to please his father. Galton was crushed when he failed to earn a first, taking an ordinary degree in 1844.
The death of his overbearing father later that year was a double liberation: it removed the pressure on Galton to become a doctor and provided him with a considerable inheritance. Travel writing (his The Art of Travel went through eight editions), exploration, and such related topics as meteorology and navigation were the primary themes of the first half of Galton's career. Increasingly, however, his interests turned toward heredity and the measurement of human traits.
By 1857, the year Garrod was born, Galton was a fixture of British scientific society. Over the subsequent five decades, he published more than four hundred books, articles, and pamphlets. As we parse intellectual disciplines today, he explored meteorology, psychology, anthropology, sociology, criminology, evolution, eugenics, and statistics. The line distinguishing the polymath from the dilettante is fat and fuzzy, and Galton straddled it. In 1883 George Romanes, the well-known disciple of Darwin, wrote, "Mr. Francis Galton has no competitor in regard to the variety and versatility of his researches"; in fact, his interests ranged so widely that one tended "to regard them as disconnected pieces of work, which from time to time were thrown off like sparks from the flame of an active mind." But with the perspective of a century and a half's distance, we can in fact see some thematic clusters in Galton's efforts.
Perhaps more than anything else, he was an inventor and a tinkerer. All his life he invented gadgets, tricks, shortcuts, and novelties. Among them: underwater reading glasses for divers, a printing teletype machine, a bicycle speedometer, a hand heliostat for signaling over long distances, a rotary steam engine, a device for measuring vapor tension, composite photography, several "pocket registrators" for conducting surreptitious anthropological studies, numerous scales, metrics, and devices for gauging human traits and qualities, and the quincunx, a sort of pinball machine for demonstrating the normal, or Gaussian, distribution. Many of his inventions were crude. Some were obvious. But several were clever and a few were brilliant. He invented the modern weather map, with its now-familiar nested lines indicating regions of equal temperature or barometric pressure. He developed fingerprinting as a modern tool of criminology. And he developed numerous tools, both physical and statistical, that became mainstays of human population genetics. Galton could be simplistic, and he often got mired in detail, but he was no fool.
His experimental work was similarly eccentric. Among his published articles one may find "Statistics of Mental Imagery"; "Head Growth in Students at the University of Cambridge"; "Sun Signals to Mars"; "Arithmetic by Smell"; and "Three Generations of Lunatic Cats." Intellectually, Galton was nearly the opposite of his cousin Darwin. Where Darwin was a meticulous collector whose written corpus moved carefully, book by book, toward a sweeping synthesis of natural history, Galton went around day by day making curious observations and solving countless problems, large and small.
Galton was a great quantifier. Many of his inventions were measuring devices. "Whenever you can, count" was his motto. He was a better measurer than calculator—despite his Cambridge degree in mathematics, he needed help with any sophisticated analysis and he often made mistakes in his own work. He was more precise than accurate. He had a knack for taking a sensitive, even poetic subject and desiccating it with numbers—the sensitivity of the nape of a woman's neck, for example, measured and quantified and parsed into percentiles. He had, however, an unusual talent for spotting trends in linear data.
What Galton liked to measure most were human traits and qualities. He explored the temperaments and turns of mind that characterize people of different degrees of social success. He systematized the whorls and waves of human fingerprint patterns as a means for the authorities to keep track of social deviants. In 1884 he set up an Anthropometric Laboratory at the International Health Exhibition, where he measured everything from height and weight to reaction time and color sense on thousands of volunteers. But he was at least as interested in corralling with quantification such unruly traits as temperament, imagination, and spirituality. His most controversial study was a statistical examination into the efficacy of prayer, a behavior that, as a committed evolutionist, he found difficult to comprehend. He then compiled these masses of data, often devising novel methods of visualizing them through tables, charts, and graphs. From them—largely intuitively, it seems—he sought to extract the truths of human nature.
For Galton, truth was smooth and lawlike, once one stripped away all confounding individual variation. The signature of his thought is the normal or Gaussian distribution—the familiar bell curve. In biology, many complex traits will display a normal distribution: most individuals fall close to a mean value, with sharply fewer individuals at either extreme. Height in humans is a classic example of a normally distributed trait; eye color, in contrast, is discretely distributed over several distinct colors. Galton was passionately interested in variation within a population, but he was singularly uninterested in individuals.
He had enormous faith in the power of statistics to express these essential, ideal truths. Statistics—so named because originally it was used to compute state actuarial tables—was a new science, growing rapidly in its explanatory power. Galton greatly expanded the vocabulary of statistics in biology, and it is on these contributions that his reputation as a founding figure of population genetics primarily rests. The core data set for his 1889 Natural Inheritance was a survey, the Record of Family Faculties. The returned questionnaires, which he somewhat confusingly also called "records," listed data on all available family qualities, from talents to physical characteristics to diseases and causes of death. Galton awarded cash prizes for each record received, depending on the quality of the data. He received about 150. The collection of Galtonian records was among the most important techniques of human genetics until well into the second half of the twentieth century.
Analyzing his Record of Family Faculties data, Galton found that for a given trait offspring tended to be less extreme than their parents; they "regressed" toward the average value, or mean. This seemed to him a profound truth of biology, and it guided much of his later thinking about heredity. As a biological principle, regression is an artifact (tall children, for example, tend to fall between their parents, not between their parents and the mean), but regression analysis generalized into one of the most fundamental tools of statistical analysis. It allows one to find the best straight line through a cloud of points on a graph. Out of the same data set, Galton developed an expression for finding the extent to which one variable depends on another. Galton's student and biographer Karl Pearson developed this into the statistical technique of correlation.
Galton's commitment to the principle of regression to the mean led him to a conundrum. If offspring always tended to fall between their parents for a given trait, how could evolution ever occur? Answering this question was essential not only logically but socially as well, for Galton was passionate about using knowledge of heredity to improve society. Did regression imply that society was doomed to homogeneous mediocrity? The only way he could see out of this dilemma was through "sports"—what we would call large-scale mutations—coupled with selection. An occasional individual with an extreme value of a trait would pull the mean upward. Thus Galton came to favor discontinuous or saltational evolution, in contrast to Darwinian gradual change.
His rejection of Darwinian gradualism, resulting from disagreement over heredity, was painful. In 1871 Galton devised a set of transfusion experiments with rabbits that was designed to support pangenesis, Darwin's ill-considered theory of heredity, put forward in 1868. Pangenesis asserted that the body's tissues "throw off" particles that circulate in the body and gather in the reproductive organs to form the hereditary material. But when Galton transfused blood from the ear of one type of rabbit to another, Darwin's hypothetical hereditary particles failed to cross over; the animals' progeny looked like their parents, not the other breed. Darwin cried "foul": he claimed that he had never said the particles circulated in the blood. But in Galton's mind Darwin's theory was disproved. In place of pangenesis, Galton suggested that the hereditary material passes down through the generations untouched by the organism's experience. He called this the stirp—from the Latin for "root." Today we use the term germ line, in distinction to the soma, or body. The distinction between "nature" and "nurture"—Galton may have borrowed the pairing from Shakespeare's The Tempest—remained a central theme in Galton's work and, of course, in all subsequent discussion of the social meaning of genetics.
One of his favorite methods for distinguishing nature from nurture has proven robust. In 1875 he wrote in Fraser's magazine that comparing traits in pairs of fraternal and identical twins offered "a means of distinguishing between the effects of tendencies received at birth, and of those that were imposed by the circumstances of their after lives; in other words, between the effects of nature and nurture." The study of twins helped persuade Galton of the dominance of heredity over environment. "There is no escape," he wrote, "from the conclusion that nature prevails enormously over nurture" if one controls, even loosely, for social status and culture. Elsewhere, he wrote, "I look upon race as far more important than nurture." Such hereditarianism is a hallmark of Galtonian thought and one of his most lasting contributions to the study of heredity.
The beauty of this hereditarian outlook, for Galton, was that it rendered human nature malleable. "It would seem as though physical structure of future generations were almost as plastic as clay, under the control of the breeder's will," he wrote. So too were mental qualities "equally under control." This plasticity of constitution meant that populations were more easily changed than individuals. "The human race has a large control over its future forms of activity,—far more than any individual has over its own." Humankind, he wrote, "can modify its own nature." We must not be misled by the notion of "individuality," he cautioned. "Our personalities are not so independent as our self-consciousness leads us to believe." Galton preferred to think of individual humans as part of a larger cooperative whole, in solidarity with one another and each willing to sacrifice for the common good.
So Galton was a hereditarian idealist, with a deep belief in the unity of the organic world. "All life is single in its essence," he wrote. "All men and all other living animals are active workers and sharers in a vastly more extended system of cosmic action than any of ourselves, much less of them, can possibly comprehend." This unity led him to fantasize about perfecting human society, and therefore humankind. "Let us give reins to our fancy," he wrote in 1865, "and imagine a Utopia." And again, thirty-six years later: "It is pleasant to contrive Utopias, and I have indulged in many, of which a great society is one." Throughout his writings, he seems unaware that utopias always have a dark side; even in imagined societies there is always a cost, and it is usually liberty. Of course, thinkers at least back to Plato had fancied hereditarian utopias, but Galton's was a veiled scientific treatise, a germ of a biosocial movement.
Out of these qualities, both constitutional and learned, came Galton's hereditarian, population-based strategy for human improvement. Both Galton and Darwin staunchly believed that humans and other organisms were subject to the same laws of heredity and evolution. But whereas Cousin Darwin had said that nature acts like a slow pigeon fancier, excruciatingly lazy and lacking foresight, Galton wondered why we who invented artificial selection cast ourselves to the inefficient whims of nature. He first floated the idea for engineering society in 1865, in an article for the general-interest magazine Macmillan's. He fantasized about an entire race of idealized upper-class English intellectuals: brilliant, cultured, genteel, restrained, and conscientious. To get there, he invoked an image of animal husbandry that became a standard trope of American eugenicists in the twentieth century: "If a twentieth part of the cost and pains were spent in measures for the improvement of the human race that is spent on the improvement of the breed of horses and cattle, what a galaxy of genius might we not create!" Initially, he called the idea "viriculture," but by 1883 he had settled on the less agricultural eugenics, meaning "well born."
(Continues...)
Excerpted from The Science of Human Perfection by NATHANIEL COMFORT Copyright © 2012 by Nathaniel Comfort. Excerpted by permission of YALE UNIVERSITY PRESS. All rights reserved. No part of this excerpt may be reproduced or reprinted without permission in writing from the publisher.
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Table of Contents
Contents
Preface....................ixAcknowledgments....................xv
1 The Galton-Garrod Society....................1
2 Fisher's Quest....................29
3 A Germ Theory of Genes....................67
4 The Heredity Clinics....................97
5 How the Geneticists Learned to Start Worrying and Love Mutation....................130
6 Getting Their Organ....................163
7 Genetics without Sex....................200
Epilogue: The Eugenic Impulse....................240
Notes....................247
Bibliography....................269
Index....................299