From the issue dated May 2, 2003
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Choosing EugenicsHow far will nations go to eliminate a genetic disease?By LILA GUTERMAN The very word makes people in the Western world cringe. It conjures up images of
Both the Greek and Turkish sides of the divided island have instituted mandatory programs to eliminate thalassemia, a horrific inherited blood disease. In both regions, before getting married, people must get tested to find out if they have the gene that causes thalassemia. From that point on, people can make their own decisions. If carriers of the gene decide to marry and have children anyway, the women can then voluntarily undergo prenatal testing to see if their fetus is doomed to the disease. And in both regions, if parents choose to end a pregnancy, the state will pay for the abortion. Even though the Greek Orthodox Church in Cyprus views abortion as a sin, it seems most people are taking that path. Without the screening program, approximately 70 babies would be born with thalassemia each year -- one in every 158 births on the island. But no more than one or two such babies have been born in any year since the mid-1980s. Ruth Schwartz Cowan, a professor of the history and sociology of science at the University of Pennsylvania, has worked to document how and why Cypriots came to adopt and support the screening program. After dozens of interviews on both sides of the island, she came to realize that people in every sector of society had strong reasons to consider the program ethical. Some Western Europeans and Americans, however, have voiced doubts. They wonder whether reducing the number of people born with the disease will undermine medical care for existing patients. Others worry that the program sits on a slippery slope leading to screening programs for less-deadly diseases. But the success on Cyprus proves those concerns are hollow, contends Ms. Cowan. And as other countries dealing with thalassemia start programs like Cyprus's, she urges an end to knee-jerk opposition to eugenics and an examination of the deeper issues raised by the island's program. "We need to understand the consequences of genetic programs way more clearly than we do," she says. "There's too much rhetoric and too little information about what is actually happening, what could be happening, what the consequences of any of these programs are." Shared Pain Cyprus, once a British colony, has been divided since 1974. The southern two-thirds houses Greek speakers and the island's internationally recognized government of the Republic of Cyprus. Across a boundary patrolled by United Nations peacekeepers lies the Turkish Republic of Northern Cyprus, which is recognized only by Turkey. The two share a divided capital, Nicosia, where both maintain thalassemia centers. "Nicosia is not a resort," says Ms. Cowan, who visited Cyprus in 1999. "We didn't fully understand it until we got there and discovered we were living literally on the edge of a minefield." The two populations, which amount to some 775,000 Cypriots, have little in common, but they share a high prevalence of thalassemia. The disorder, which is also known as Cooley's anemia, is the most common single-gene disease in the world, affecting around 100,000 people. Approximately one in seven Cypriots carries a copy of the gene for thalassemia. They do not experience its symptoms. Children must inherit a copy of the gene from each parent to suffer the disease, so one-fourth of the children of two-carrier couples are affected. That's exactly what happened in George Constantinou's family. His three older brothers were born healthy. But when Mr. Constantinou was born, in 1958, doctors knew little about how to treat children, like him, with thalassemia. People with the disease do not make enough hemoglobin. Without treatment, children become severely anemic and fail to thrive. Their spleen enlarges, and their bone marrow expands, a process that weakens the bones and changes their shape, particularly in the face. Lacking treatment, children will die by the age of 5. Mr. Constantinou's parents, desperate to help their ailing child, took him to doctors in Greece, Italy, and Britain. All told the parents to give up hope. "They were getting the same communication: 'You've got three other children, concentrate on them,'" he says. Luckily, a doctor in Switzerland realized that Mr. Constantinou needed blood transfusions. Patients now receive transfusions every two to four weeks to correct their hemoglobin levels and allow organs to receive oxygen. The transfusions, however, also cause iron overload, which in the long run can damage the heart, liver, pancreas, and reproductive organs. Patients treated only with transfusions die in their teens. In the 1960s, researchers developed Desferal, a drug that removes iron from the blood. Most children begin treatment with Desferal when they are 2 or 3; Mr. Constantinou was 12. Because of iron accumulation, he has developed liver problems and diabetes. Desferal can save people with the disease, but it also takes over their lives. Patients must inject themselves using a syringe attached to a pump, which very slowly delivers the medicine over the course of 10 hours. They do that five to seven nights a week. "I organize my life to be comfortable with the pump," says Angela Vasiliou, a patient who lives in Ayia Napa, in the Republic of Cyprus. Many patients skip some Desferal doses because of the inconvenience, says Radhika N. Sawh, the national director of patient services for the Cooley's Anemia Foundation, based in Flushing, N.Y. "Our No. 1 cause of death is cardiac disease from iron building up in the heart." With blood transfusions and Desferal, thalassemia patients routinely live into their 30s and 40s, and some are in their 50s. But in Cyprus, as people started living longer, the new treatments placed enormous stresses on patients' families and the governments. Because the island lacked a blood bank until after the 1974 split, parents had to find a donor to accompany their child to the hospital once a month. In the 1970s, physicians and parents' associations, both Greek and Turkish, began campaigns to improve thalassemia treatment on the island. By the end of the decade, both governments had begun programs that, free of charge, gave every child blood transfusions, a portable injection pump, and supplies of Desferal. But those programs merely shifted the economic and logistical problems from the families to the government. A consultant from the World Health Organization, Bernadette Modell, estimated then that within 20 years, every healthy Greek Cypriot would have to donate blood every six weeks. Perhaps worse, the cost of Desferal -- which today amounts to $1,800 to $5,000 per year for a child and more than $7,000 for an adult -- would consume the entire budget of the health ministry. The Greek-Cypriot parents' association pushed for prevention. At the same time, a group of Greek-Cypriot physicians led by Minas G. Hadjiminas set to work to screen young, unmarried people. A simple blood test can show if people carry the gene, but prenatal tests became available only in 1976. Through interviews, Ms. Cowan found that most two-carrier couples on Cyprus still chose to marry and that physicians arranged for abortions for couples at risk of having children with thalassemia. Doctors went so far as to send pregnant women to other countries to obtain abortions until such services came to Cyprus. Once a prenatal test was on hand, Dr. Hadjiminas and his colleagues worked to educate obstetricians about screening pregnant women. By the late '70s, screening for the thalassemia gene had increased and the number of children born with the disease had dropped. Meanwhile, Dr. Modell visited Turkish Cyprus and made similar arguments about costs rising as patients lived longer. A screening program, begun in 1979, attracted few people to be tested. The parents' association pushed for a mandatory program, and got it written into law less than a year later. Both Greek and Turkish Cyprus reduced the number of babies born with thalassemia. But the Greek-Cypriot physicians, whose voluntary screening program had cut the number to 8 in 1982 from 51 in 1974, hoped to do even better. In 1983, they persuaded the Orthodox Church, which controls weddings in Greek Cyprus, to require a premarital certificate stating that couples had been tested for the thalassemia gene. In 1986, no babies with thalassemia were born in Greek Cyprus. Since then, fewer than 10 have been born. At least one was the result of faulty reading of the prenatal test. Others were born when parents declined to abort pregnancies for religious or other reasons, according to staff members at Archbishop Makarios Hospital, in Nicosia. Moved to Action When Ms. Cowan interviewed Dr. Hadjiminas and other physicians instrumental in creating the Greek-Cypriot screening program, they attributed their success to the island's homogeneous population, high literacy rate, and the immediacy of the suffering -- everyone knew someone who had thalassemia. But she found that different segments of society supported the program for varied reasons. "There is a moral agreement on this," she says. "It's not the same morality, but there is a moral agreement that this program is wise and right." Physicians anguished over the suffering they observed, Ms. Cowan found. When she asked Dr. Hadjiminas why the voluntary program had been insufficient, he told her, "The suffering, the suffering -- you can't imagine it. We had so many disasters. I saw one woman commit suicide. I saw kids left to die after the diagnosis." In both parts of Cyprus, parents of children with thalassemia were primary movers in starting the screening programs. When Ms. Cowan asked them why, many of them seemed to have the same goals as the doctors: to prevent further suffering. But one parent admitted that her main concern was to protect her daughter. The woman -- and other parents, it turned out -- worried that as the population of thalassemic children grew, her child would receive less care. The governments, meanwhile, were forced to take a utilitarian view of the economics of health care. "You can't spend all the money available to you on one segment of the population and one disease," Ms. Cowan says. "It would be immoral." In both parts of Cyprus, government officials saw thalassemia prevention as needed simply because they could not afford the growing population of sick people. A cost-benefit analysis in the early 1980s showed that each Greek-Cypriot thalassemia patient -- there were about 600 -- cost tens of thousands of dollars per year, while the entire prevention program cost just one-and-a-half times that. Even the church supported the program in Greek Cyprus, despite its opposition to abortion. The church requires only premarital screening and genetic counseling for its certificates, but that counseling includes information on prenatal testing and abortions. Ms. Cowan was unable to interview members of the church hierarchy. But she spoke with a physician and a parent who attended the 1983 meeting at which the church agreed to require the certificates. The activists argued that screening would reduce human suffering and would lower, not increase, the number of abortions. Without the program, parents who knew they were both carriers -- who either had already had a baby with thalassemia or had found out through voluntary screening -- were often aborting all of their pregnancies. But with the program, those parents would be screened and would receive genetic counseling, making them aware of prenatal testing. Only around one-fourth of their pregnancies would be afflicted. Also, carriers might choose not to marry in the first place. The Rev. Marios Demosthenous, who works in the archbishop of Cyprus's office of marriage licenses, explains to The Chronicle that the church does not condone the abortion of fetuses with thalassemia. The church, he says, wants people to do premarital testing simply to learn of their genetic risks, to prevent them from "coming after the marriage and [saying] we have a problem or we want a divorce or we want to kill our babies." He says that the church does not give advice about abortion unless it is sought. If carriers choose to marry and have children, he says, "they have to continue with their life with the beliefs of their sort of faith." The actions of church leaders suggest that they struggled with accepting the program. Ms. Cowan was told that the archbishop who dedicated the thalassemia center, in 1980, "devoted his speech to inveighing against abortion." And when he met with parents and physicians in 1983, "the archbishop yelled at them, 'I've said yes to you, but it doesn't mean I don't think you're murderers,'" according to a doctor who attended the meeting. The Ethics of Eugenics The widespread approval of the genetic-screening program in Cyprus does not extend beyond its shores, judging from how some scholars have reacted to it. Although Ms. Cowan has not published her work yet -- Cyprus will be a major focus of a book on the history and politics of genetic screening that she is writing for Harvard University Press -- many ethicists, geneticists, and social scientists have either heard her speak or know of the program through other means. Some take issue with the utilitarian view of patients, arguing that officials started the program because they wanted to cut treatment costs, not alleviate sufferering. Barbara Katz Rothman, a professor of sociology at the City University of New York's Graduate Center, considers such a cost-benefit analysis problematic in itself but also frightening in terms of what it could lead to. "What other conditions might be less expensive to remove via screening than to treat?" she writes by e-mail. "That is a very different question than asking what conditions make a life so unhappy, so unalterably miserable, that never being born is better for the person." Although the Cypriot program allows reproductive choice after the genetic screening, the specialists contacted by The Chronicle agree with Ms. Cowan that it is eugenics. "When you put up a screen, it's to keep something out," says Troy Duster, a professor of sociology at New York University. "The screen is about keeping out bad genes." That doesn't necessarily make it immoral, some say. Couples can still decide whether to marry and have babies with thalassemia, and that appeals to some ethicists' concern about individual rights. But Paul A. Lombardo, a bioethicist at the University of Virginia who has studied eugenics, wonders if decisions on Cyprus are really individual or are influenced by social pressure. "It would be an enormously difficult decision to make for parents going against the tide," he says. In fact, few have. Ms. Cowan says that she knows of only one Cypriot couple -- two thalassemia patients -- who married and chose to have a baby with the disease. By contrast, on the Italian island of Sardinia, which has a voluntary screening program, the number of babies with thalassemia has increased in the past two years, most likely because parents see improvements in treatment, says Renzo Galanello, a professor of pediatrics at the University of Cagliari. The message that it's bad to have a baby with thalassemia also implies disapproval of those who have the disease, Mr. Lombardo says. As fewer babies are born with the disease, the financing and pressure for treatment and research on cures could diminish, some argue. Ms. Cowan says thalassemia doctors on Cyprus worry about that: "They recognize that they're putting themselves out of business as caregivers." But that has not happened yet. She views concerns about discrimination against people with thalassemia or other disabilities as misplaced. "I answer this issue as a historian," she says, noting how disabled people have fared in the United States. Their situation "has improved markedly in the last 40 years, which is the same time that we have been doing genetic screening. There is a theoretical reason to believe that there might be a connection between genetic screening and the reduction of services to the disabled, but in fact it hasn't happened." Dr. Galanello, who set up Sardinia's screening program in 1974, says he has seen treatment improve as the number of patients fell. Not surprisingly, American foes of abortion view the Cyprus program as odious. "We oppose using prenatal genetic screening for the purposes of killing a defective child," says Wanda Franz, a professor of child development and family studies at West Virginia University at Morgantown and president of the National Right to Life Committee. "We believe that a sick child needs to be cared for. To kill a defective child in utero isn't that much different than killing a defective child as a newborn." But Ms. Cowan says she found no outright opposition on Cyprus to the program, aside from some obstetricians who would not perform abortions. In fact, the adult patients she interviewed strongly supported the screening program as well. When Ms. Cowan asked a Cypriot patient why she would not date a carrier, "she said, 'Nobody should have to suffer the way I suffer.'" Mr. Constantinou, the patient who lacked good treatment as a child, explains: "You've got to realize that thalassemics are very realistic people." Now living in Britain and the president of the Thalassaemia International Federation, which grew out of the Greek-Cypriot parents' association, he says, "Prevention and screening have to take place." But had the program been in place in the 1950s, Mr. Constantinou might have been aborted. Would he prefer to have never been born? "If a child was to be born today with the treatment I had when I was born in the 1950s, I would say, Leave me alone, get rid of me. The difficulties that I had to grow up with -- and the unknowns and the harassment and the upset that my parents had to go through -- they could have done without." Global Consequences Although it is one of the most common inherited diseases, thalassemia is just the tip of a mountain of misery. Worldwide, 7.6 million children are born with genetic disorders every year. Most die young, their diseases undiagnosed. World Health Organization studies have found that when preventive services are available, 70 percent of patients' disorders can be avoided altogether through abortions or early treatment. Thalassemia is prevalent not just in the Mediterranean but throughout southern Europe, northern Africa, the Middle East, and southern Asia. In a paper in the January issue of Nature Genetics, Ala' Awan, of the World Health Organization, and Dr. Modell, now an emeritus professor of community genetics at University College London, estimate that Pakistan, for instance, would have 4,428 thalassemia births every year without its prevention program. Meanwhile, the tiny Maldives, with a population of only 300,000, would have 57 thalassemic babies yearly without its program. At least 12 such countries have introduced or are developing screening programs, many of them mandatory, inspired by the Cypriot approach, Dr. Modell says. For instance, Iran, a country of 66 million people, has undertaken the vast task of screening and providing genetic counseling to everyone planning to marry. According to Dr. Modell, a survey found that more than half of Iranian couples who learned that they were both carriers chose to marry even though abortion was illegal. Upon learning the survey results, she says, Iran's religious leaders decided to permit first-trimester abortions of fetuses with thalassemia. Dr. Modell, who still consults with the World Health Organization on the programs, shrugs off ethicists' concerns about utilitarian philosophies, coercion, or slippery slopes. "Prevention is all-important in developing countries," she says. "These people are terribly practical. They know they need this now, urgently. People are suffering enormously. Their populations are not rich enough to ask to do these things for frivolous reasons." "In these countries," she continues, "the decision makers often also have the disorder in their families, so they tend to have a very humane view of it. They're sensitive to issues of choice and confidentiality.... These ideas that people are forced and coerced -- it doesn't happen in practice." Observing what occurs, rather than speculating about theoretical possibilities, is key to understanding how genetic technologies influence lives, argues Ms. Cowan. In fact, her work in Cyprus has fundamentally changed her view of genetic screening. Before going to the island, Ms. Cowan was convinced that "genetic screening was another aspect of patriarchal medicine that was having negative effects both on women and on disabled children." Based on her visit, she says, "I changed my mind." One of her primary concerns had been the slippery slope. But then she realized that genetic screening had been around for more than four decades. "And none of the things that were predicted by pessimists have come to pass," she contends. "That is, genetic screening of the sort that prevents people from reproducing has not happened." "I've come to understand," she says, "that the greatest risk we face is not from the screening techniques but from the government. If we don't want governments that mandate that people not reproduce, then we don't let them come to power. It's not a genetic issue, it's not a medical issue, it's not a biological issue. It's a political issue." The ethical concerns Ms. Cowan once harbored have now evaporated, replaced by her conviction that eugenics has helped Cyprus. But the word can't shake its hateful history. In fact, Ms. Cowan worries that by highlighting the success of the Cyprus program, she could endanger it. So she advocates a utilitarian solution. "If not calling it a eugenic program allows it to continue, let's not call it a eugenic program." Francis X. Rocca contributed to this article. http://chronicle.com Section: Research & Publishing Volume 49, Issue 34, Page A22
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Copyright © 2003 by The Chronicle of Higher Education