Can We Improve the Gene Pool

In 1949, when she was 15 years old, Betsy Stark, a poor girl who lived in a small town near Lynchburg, Virginia, and who had dropped out of school a year earlier, got pregnant. Shortly after she had the baby, whom she placed for adoption, Betsy was committed (at her father's request) to a large state institution for the mentally retarded in Lynchburg. As part of the admission process, a staff psychologist gave her an IQ test on which she scored 72, considered to be at the border between low-normal intelligence and mental retardation. A few weeks later, after conducting a routine physical exam, a surgeon at the state facility told Betsy that she needed to have her appendix out. Just two weeks after the operation, with no more explanation than she had been given for her admission, Betsy was discharged from the Lynchburg Colony. Fifteen years later, then married and working in a local factory, she learned that the infertility, with which she and her husband had struggled for several years, was due to the fact that the surgeon who had taken out her appendix had, without her knowledge or consent, tied off her fallopian tubes.

Betsy is one of several thousand women who were sterilized pursuant to a 1924 Virginia law designed to protect society from the then widely held suspicion that mentally retarded women were unusually fecund and, unless sterilized, would have large broods of retarded children. Those who lobbied for the law reasoned that these children would almost certainly become wards of the state who would as adults perpetuate and expand the welfare cycle. The Virginia sterilization law earned its niche in history in 1927 when Supreme Court Justice Oliver Wendell Holmes, Jr. wrote the opinion in Buck vs. Bell upholding it's constitutionality. He penned the now infamous line, "Three generations of imbeciles are enough." Although they were both sterilized pursuant to the same law, Betsy's story has a de cidedly different ending from that of Carrie Buck, the woman who was the subject of the case about which Holmes wrote his opinion.

In the late 1960s, Betsy and hundreds of other women who had been sterilized without their knowledge or consent joined a class action lawsuit against the state of Virginia for deprivation of their civil rights. Although a federal trial court eventually denied most of their claims because the sterilizations had been carried out under a law the constitutionality of which had been upheld by the U.S. Supreme Court, it did order state officials to inform all women who had been surreptitiously sterilized about the true nature of the surgery that had been forced upon them. In 1972, two years before that opinion was published, the governor of Virginia offered a public apology to the women and ordered that no eugenic sterilizations be performed on any persons institutionalized in a state facility. The Virginia class action lawsuit marks the end of an era of state-supported sterilization programs that lasted for more than 60 years in the United States.

Eugenics: A Brief History

The word eugenics (from the Greek for "good" and "birth") was coined by Francis Galton in 1883 nearly 20 years after he began studying the heri-tability of talent in British families. Interest in eugenic ideas was even then (well before the discovery of Mendelian laws) easily discernible in England, the United States, and Germany. One important early event in the United States grew out of work by Richard Dugdale, a British emigrant who lived in New York and was an advocate of social reform. In 1875, New York officials asked Dugdale to serve on a committee to inspect the quality of the treatment of inmates in state prisons. While inspecting a prison in upstate New York, Dugdale became fascinated by the number of people in one extended family who were incarcerated. After studying the family for nearly a year, he began to lecture and write about it. In 1877 his book, The Jukes (a pseudonym for the family's name), generated immense public interest in the societal costs of caring for the mentally retarded, mentally ill, paupers, alcoholics, and disabled persons.

His history of a family that had over several generations consumed a huge amount of what we would today call welfare dollars, created a new literary genre. Over the next 40 years, more than a dozen book-length, of ten lurid, accounts of mostly large, poor, rural families, many of whose members were allegedly feebleminded (as the mildly mentally retarded were then called) and who had large broods of children for whom they could not properly care were published. During the 1920s and 1930s, some discussion of The Jukes, and The Kallikaks, a New Jersey family studied by the eminent psychologist, H.H. Goddard, who worked at the Vineland Training School, was a standard part of the high school biology curriculum, offered as proof of the hereditary nature of feeblemindedness.

Between 1900 and 1910, eugenics attracted huge public interest. The Reader's Guide to Periodical Literature for 1910 ranks articles about eugenics as among the most frequently published in the nation's popular magazines. This interest was generated in part by the severe social pressures created by wave after wave of new immigrants, especially as the tide began to flow from southeastern Europe and Russia. Many Americans (who were, of course, themselves descendants of immigrants) were easily convinced by policymakers that new arrivals were of a much weaker stock in the human orchard. First among many ardent eugenicists was President Teddy Roosevelt, who unabashedly urged healthy, young Americans of good stock (presumably of northern European descent) to marry and have large families. This was the only solution, he thought, to avoid the "race-suicide" that would result if swarthy immigrants diluted the existing gene pool.

The influence of eugenic thinking in the United States from the last quarter of the 19th century through the 1960s is most obvious in the language of our restrictive immigration laws. Beginning with the Chinese Exclusion Acts of 1877, federal immigration laws were rewritten time and again to limit entry of those deemed racially (genetically) undesirable. The apogee came in 1924 with enactment of a quota system that gave much greater preference to northern Europeans than to others, a system that was not substantially altered until 1968. The other major expression of our society's interest in "negative eugenics" (programs to curtail reproduction by persons of weak genetic stock) was the enactment in about 30 states of involuntary sterilization laws like the Virginia statute.

During the 1880s and 1890s, an era in which the states built large institutions to house the mentally ill and mentally retarded, eugenic policy was one of segregation. The literature of the time is replete with discussions of the need to protect retarded women from being "taken advantage of." Officials who ran these facilities strictly enforced rules that eliminated this possibility. But segregation by gender presumed that persons would never leave the institution, a plan that was in conflict with a larger mission. These same officials believed that they could educate many of the feebleminded well enough to prepare them to hold simple jobs in the community.

The rediscovery of the Mendelian laws of inheritance in 1900 provided a neat mechanism to explain mysterious conditions like mental retardation and insanity. Charles Davenport, a Harvard-trained biologist who founded the now famous research laboratory at Cold Spring Harbor, Long Island, New York, was one prominent scientist who taught that a sizable fraction of persons afflicted with such conditions had either autosomal dominant or autosomal recessive disorders. Enamored with Mendelism (as it was called before the term genetics appeared about 1908), Davenport thought heredity forces could explain just about any condition or behavior. He even postulated that because boys, but not girls, ran off to sea, there must be an X-linked gene driving this desire, a condition that he dubbed thalassophilia (from the Greek for "sea" and "love").

The development of the vasectomy in the United States about 1900 provided an important tool for eugenics. The first involuntary sterilization law was enacted in Indiana in 1907, thanks to the lobbying efforts of a prison doctor named Harvey Sharp, who was the first surgeon to use the vasectomy to sterilize convicted felons. California enacted a similar law in 1909 that focused on mentally ill persons living in state institutions. In less than a decade, state officials working in California hospitals sterilized several thousand people, a most impressive number, given the population of the state at that time. However, except for California, the dozen or so states that enacted sterilization laws before World War I did not implement them aggressively. In the early 1920s, in large part in response to a resurgence of European immigration after the war, there was a dramatic growth in public support of eugenic policies. Driven by the lobbying efforts of groups like the American Eugenics Society, Michigan and Virginia became the first states in the postwar era to enact sterilization laws aimed at retarded persons in state institutions. When the Supreme Court upheld the Virginia statutes in 1927, many states quickly enacted similar laws. Between 1927 and 1939 more than 40,000 persons were sterilized pursuant to these laws.

During the 1930s, interest in eugenics was widespread throughout Europe. England never enacted a sterilization law, but a dozen or more Eu ropean states did. Nazi Germany eclipsed all others when in 1934 it created a system of "hereditary health courts" which were charged with hearing petitions from local officials that certain citizens were unfit for parenthood and should be sterilized. During 1934 alone, the special Nazi health courts ordered the sterilization of more than 80,000 persons, a number that probably approximates the combined total of all involuntary sterilizations performed in all other nations during the years in which eugenic thinking held sway. Eugenics took on insane dimensions in Nazi Germany, and more than 1,000,000 sterilizations may have been performed there.

The notion that negative eugenic policies could be rationally used to improve the human gene pool is quixotic at best, madness at worst. Such policies teeter on a child's block tower of assumptions. Is there a real causal relationship between genetic endowment (or lack thereof) and a particular condition or behavior? How does a society decide which of the thousands of genetically influenced human conditions should be diminished? To what extent will decisions reflect transient political assumptions? Do we know enough about genetics to argue that any gene is "bad" or "good?" No one has the answers to these questions.

Nearly 20 years ago, I visited a half-dozen old state institutions for the mentally retarded, traveling to places like Faribault, Minnesota, and Lynchburg, Virginia, to poke through their dusty archives and to read the medical records of persons now long dead. I sought to learn how they implemented eugenic sterilization laws and to unearth the private opinions of some of the administrators and doctors who seemed eager to carry them out. The old medical records speak volumes. The institutional physicians clearly believed that both the young, mildly retarded women who were by 1930 the most usual target of sterilization and the society as a whole would benefit from these operations. In several states I found evidence that consulting surgeons had routinely performed an extraordinarily high number of "appendectomies." It is simply not medically possible that 20% or more of the young women admitted to state institutions for the mentally retarded each year needed appendectomies. Most, if not all, of these operations were almost certainly surreptitious tubal ligations. No one will ever know how many hundreds (probably thousands) of women in the United States were sterilized while in state institutions (which often had medical facilities on grounds) without any record even being made of it.

Six decades have elapsed since the heyday of these state programs intended to protect the gene pool by sterilizing retarded persons. We now know that the origins of mental retardation are manifold and that sterilization of a few thousand women and men could not have a discernible impact on the gene pool or measurably reduce the number of people in the subsequent generation with mental retardation. In fact, contrary to the popular prejudice of earlier times, relatively few persons with mental retardation have children, and most persons with mental retardation are born to couples who do not suspect their risk. Furthermore, many cases of mild mental retardation are probably caused, or at least exacerbated by, events in pregnancy and early childhood, especially forces linked to poverty, as much as by genetic factors.

In the United States and elsewhere, the fear of our eugenic legacy lingers. In the 1970s, some in the black community genuinely viewed well intentioned, but poorly drafted, state laws that mandated testing for sickle cell anemia to be a thinly disguised, racially motivated effort to dissuade gene carriers from reproducing. Today, many disabled persons are alarmed that prenatal diagnostic testing is sharply reducing the births of children with spina bifida. In England and Wales, prenatal screening to identify fetuses at risk for such neural tube defects, coupled with selective pregnancy termination, has led to more than a 90% reduction in the births of affected persons in just two decades. Once among the most common birth defects in England, spina bifida is rapidly becoming rare. The same trend is discernible in the United States. Is this a public health achievement that we should applaud or castigate?

Elsewhere in the world, people have harnessed medical technologies to serve cultural values that most Americans and Europeans find abhorrent. Astonishingly, researchers at the United Nations argue that there may be as many as 100 million women missing from the world population. This is because across Asia, parents favor the survival of girls over boys. In China, which for 20 years has officially permitted only one child per family (a policy now beginning to loosen slightly), parents often deliberately neglect illness in female infants. In India and China, despite laws that criminalize the activity, ultrasonography is still easily available to sex fetuses, and among the well-to-do, the use of selective abortion to control gender is common. In India, a 1991 census found only 92.9 females for every 100 males; in China, a 1990 census found 93.8 females per 100 males. These numbers are dramatically out of line with expected ratios and can only be explained by selective abortion or by behaviors that reduce the survival chances of young girls.

Even if one could distinguish gender discrimination from eugenics, China has embraced other social policies that make it difficult to dismiss those who call up the ghost of eugenics past. On June 1, 1995, China implemented a new law on Maternal and Infant Health Care. Although the law has many laudable elements (such as a provision that forbids using ultrasound or chromosome studies to diagnose fetal sex), many in the West are troubled by the provisions that require couples known to be at risk for having children with serious genetic disorders to receive and follow medical counseling, and to agree to long-acting contraception, sterilization, or prenatal diagnosis and selective abortion if recommended by a physician.

The most troublesome language in the Chinese law is Article X, which states that during a prenatal exam, the doctor "shall explain and give medical advice to both the male and female who have been diagnosed with certain genetic diseases of a serious nature which is considered inappropriate for child-bearing from a medical point of view." Another provision, Article XVI, of the law seems to empower the doctor to control the childbear-ing behavior of at-risk couples who seem recalcitrant to advice.

Geneticists in several nations, notably Great Britain, have urged the Chinese government to rescind eugenic features of the law. At an International Congress of Genetics held in Rio de Janeiro in 1996, Newton Morton, one of the world's foremost population geneticists, spearheaded an effort to urge geneticists to ask the Chinese government to rescind the law, and to call for a moratorium on similar laws in other nations. Uncomfortable with censoring a particular nation, the American Society of Human Genetics instead appointed a committee to draft a general policy statement on eugenics and reproductive freedom. I chaired that committee, which spent two years navigating through murky political seas. The ASHG ultimately adopted a statement based on the committee's work, a document that strongly opposes any government effort to compromise procre-ative autonomy.

The discontent among Western geneticists over the Chinese eugenics law is not shared by their Chinese colleagues. A 1996 survey of 402 geneticists in 30 provinces and autonomous regions of China found that 95% agreed that "people at high risk for serious disorders should not have chil dren unless they use prenatal diagnosis and selective abortion," and 90% agreed that "an important goal of genetic counseling is to reduce the number of deleterious genes in the population." As one Chinese scientist put it, "Please remember that we are already caring for 60,000,000 disabled people," a number about equivalent to the population of France.

The New Negative Eugenics

In the United States and Europe, a new and more subtle form of negative eugenics may be emerging. It is technologically enabled, physician supported, and widely embraced by consumers. Simply put, a significant fraction of women, when offered testing that could lead them to avoid the birth of children with serious genetic or congenital disorders, choose to be tested and to abort affected fetuses. Amniocentesis and fetal chromosome analysis became widely available in the 1970s. About 300,000 pregnant women (most 35 and older) in the United States now undergo this test each year. About 1,000 will discover that they are carrying a fetus with Down syndrome, and three-quarters of them will obtain an abortion. About 3 out of 4 of all pregnant women (that is about 3,000,000 women) will, regardless of age, undergo a screening test to see if the fetus may have spina bifida. About 3,000 will eventually discover that they are carrying an affected fetus, and about three-quarters of them will abort.

For a few severe childhood genetic disorders that are relatively common in specific populations, such as Tay-Sachs disease among Ashkenazi Jews, carrier testing to alert individuals about reproductive risk has become the norm. In the United States, carrier testing, prenatal diagnosis, and selective abortion have reduced the births of children with Tay-Sachs disease by more than 95% in 25 years. As the diagnoses of genetic disorders are made ever earlier, physicians are able to alert parents about high recurrence risks in subsequent pregnancies. For that reason, we can expect that there will over time be dramatically fewer families into which a second affected child with a serious genetic disorder is born.

The point is simple and the trend is clear. In advanced societies that have embraced small families, widespread use of these testing technologies by women is causing a sharp reduction in births of children with some of the more common birth defects. Although such tests will greatly affect individual families, they will have no discernible impact on welfare budgets and none on the gene pool. The reason for the latter is that virtually all of these "prevented lives" would have been people who would not have become parents.

Interest in using prenatal testing to avoid the births of children with serious disorders is growing just as we enter an era in which DNA-based testing will provide a greatly expanded array of tests. Once the cost of testing becomes modest, which it will, there are several ways in which the tests will be used, including (1) population-based newborn screening to identify children at risk for disorders that manifest during infancy or childhood, (2) carrier testing of adults to warn people about risks (depending on their choice of spouse) of bearing children with autosomal recessive disorders, or to warn women about their risk of bearing children with X-linked disorders, and (3) prenatal diagnosis. Newborn screening is already well established and will naturally expand to include tests that benefit children. Carrier testing is also well established for three disorders (Tay-Sachs disease, sickle cell anemia, and the thalassemias) and is likely to expand sharply to include testing for cystic fibrosis, Fragile X, and several other conditions in the next few years. The future of DNA-based testing in prenatal diagnosis is uncertain. I expect it to develop slowly, largely because we know so little about the pattern of interactions of genes and environmental factors that lead to many birth defects. But develop it will. Twenty years hence a woman will have the option of learning vastly more information about her fetus than is currently possible. Just as the prenatal ultrasound has become a routine part of prenatal care, so will DNA screening.

One prediction does seem certain. Women in large numbers will continue to use genetic (and other) tests to avoid the birth of children with serious disorders. Modern eugenic practices do not derive from, nor do they depend on, governmental funds or policies. If there is a new eugenics in the land, it is certainly not driven by state law. If anything, in the many states in which the majority of people favor restricting access to abortion services, it can be difficult for indigent women to obtain prenatal tests.

It is time for us to confront a discomforting fact. Vast increases in our understanding of the role genes play in health and disease and in our ability to acquire and process such information about the risks faced by couples or about fetuses conceived by them will have a frightening impact on how we think about human reproduction. Who will decide what informa tion is of sufficient clinical value to offer to couples? Who is to be charged with deciding what constitutes a serious genetic condition? Who will act as the gatekeepers to block consumers from gaining access to information they desire? Are we entering an era in which even relatively minor genetic or congenital conditions will be viewed as disabilities? The process by which we resolve these issues may make the abortion debate seem mild.

Positive Eugenics

Frances Galton's earliest interest was in positive eugenics, programs to improve the mean genetic endowment of the future population. The goal of positive eugenics has always been to think of ways to increase the reproductive contribution of those individuals thought to be most fit. For 50 years, from Teddy Roosevelt to the Nazi Lebensborn program, this amounted to little more than periodic exhortations to healthy young couples to have big families. In the United States, the popularity of such ideas peaked in the 1930s. This was a decade in which county fairs sponsored "fitter family" contests, awarding blue ribbons for the best human stock just as they did for the best cows and pigs. It was an era that saw the emergence of nonprofit organizations with names like The Human Betterment Foundation (California) and the Eugenic Babies Foundation (Kansas).

Nobel Prize-winning geneticist, H. J. Muller (who first observed that radiation caused mutations), was for a time an ardent positive eugenicist. Muller was among the first to propose the use of sperm donations by eminent men (presumably to be used by enlightened couples) to differentially increase their genetic contribution to the everchanging gene pool. Positive eugenics reached its apotheosis among the Nazis, who encouraged young Aryan couples to marry, and even recruited young women to become pregnant by soldiers of presumably good genetic stock whom they barely knew. In the 1970s a few other scientists (most notoriously Alfred Shock-ley, a Nobel laureate in physics) suggested that the use of donor sperm from highly successful men might be the best available way to secure a superior genetic endowment for a child.

Perhaps the most famous modern proponent of sperm banking for positive eugenics is Robert Klark Graham, a retired lens manufacturer, and millionaire, who in 1980 opened the Repository for Germinal Choice in Escondido, California. The idea was to select and purchase sperm dona tions from Nobel Prize-winners and offer them to deserving women (whose applications he and his wife evaluated) who wished to have highly intelligent children. Still open and more active than ever, the Repository no longer seeks sperm donors among Nobel laureates (using the sperm of older men is less likely to result in a pregnancy). One of Graham's assistants told me that in recruiting donors they now focus on successful scientists and other professional men in their 30s and 40s who have a tested IQ of at least 135.

More than 200 children in the United States have been conceived with sperm samples selected by women after they have reviewed the data (height, hair color, ethnic origin, IQ, hobbies, musical ability, and physique) provided by the anonymous donors. According to unverified reports from the mothers, all the children (some now approaching adulthood) are very bright. A few have IQs in the 170s, a score to be found in only about 1 in 100,000 randomly tested children. Most of these kids are being reared by unmarried, professional women who have substantial resources to devote to them. Thus, the relative contributions of genes and environment are impossible to untangle.

California Cryobank, one of the largest commercial (there are also many small ones operated by infertility centers) sperm banks operating in the United States, also seems to have embraced Muller's views. When it decided recently to open a branch on the East coast, it chose to set up shop within a stone's throw of Harvard and MIT. The company, which pays its donors $35 per sample and will accept up to three samples a week, claims that only 8% of those who apply to be donors are accepted. This is about the same percentage of applicants that Harvard and MIT accept as freshmen! Although the company does not require IQ test scores of applicants, it is eager to collect sperm from college students who have already demonstrated obvious talent. Of course, evidence of good physical health is also essential. Other baseline requirements? A donor has to be at least 5 feet, 9 inches tall.

In 1999 the idea that one might shop for germ cells was taken to a new level when Ron Harris, a longtime fashion photographer, launched a website featuring the photos of eight beautiful models, all of whom were allegedly willing to sell their eggs for prices ranging up to $150,000. In a New York Times interview, Harris claimed that one of his models ("Ron's angels") had already received an offer of $42,000 (of which he would get a

20% commission). Within a day or two of being launched, the website came under heavy scrutiny. Most of the models withdrew from the list of potential egg donors, and the site did not respond to efforts by reporters to bid. It appears to be just another Internet-based hoax. Legitimate Internet auction sites, like eBay, will not permit sale of any human tissue except hair.

Ron's angels may be a fraud, but the question it raises is real enough. Should women be able to auction off their eggs to the highest bidder? A few voluntary egg donation programs are in operation in the United States, all closely tied to legitimate infertility centers. Egg donors are paid a modest amount (between $2,500 and $5,000) which is considered a service fee for the inconvenience they suffer, not a purchase price. Several professional and consumer groups have advocated that the sale of human eggs be outlawed. Yet, even in the most altruistically motivated infertility clinic, couples searching for an egg are given the opportunity to review fact sheets about the donors that include information like height, weight, and complexion. Where should the line be drawn? Is it OK to list the donor's IQ?

It would be foolish to expect that a child born after IVF with an egg donated by a beautiful woman would grow up to be beautiful. However, it would also be naive not to think that the odds of that child being beautiful had been improved substantially because of the DNA in that egg. Perhaps Mr. Harris is right. "This is Darwin's natural selection at its very best," he wrote. "The highest bidder gets youth and beauty."

There may have been a time, more than 20,000 years ago, when the human population was composed of as few as 10,000 hunters and gatherers living in nomadic bands, that a comparatively few people had a fairly large impact on the gene pool. The male leaders of each clan may have sired a significant fraction of the offspring. To the extent that this social dominance reflected a superior (for that particular environment) genetic endowment, they may have acted as a vector of positive eugenics. This is a highly speculative idea that has no relevance to human culture today.

The idea that a complex modern society can enhance its genetic endowment by encouraging differentially high fertility by certain citizens is little more than an adolescent fantasy, the kind of thinking one might find among people who take Star Trek a little too seriously. Yet, research suggests that a significant fraction (40-60%) of the variance in intelligence is attributable to genes. If this is so, then someday in the distant future, we will identify and elucidate the role played by those genes in cognition. Will we ever be able to genetically enhance the intellectual potential, physical prowess, musical aptitude, beauty, or sociability of our children? Perhaps. But that will be many generations from now in a world so vastly different from the one we now know that it cannot be imagined.

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