Genome research is undoubtedly going to be the most important (and controversial) scientific research of all time. Some FWers may be interestest in the following article by Victoria Griffith, looking at the benefits and dangers.
<<<< WIRES CROSS OVER GENES By Victoria Griffith Molecular biologist Tony Frudakis got a shock when he received results from the world's first commercial racial genomics test. As chief executive of DNAPrint Genomics, which started selling kits in September, Frudakis volunteered to submit a blood sample for an ancestral profile. The test indicated Dr Frudakis was 10 per cent Native American. "I had no idea," he says. "My aunt was always harping on about how her great-grandmother was a Cherokee. But we thought that was just family myth." As genomic data on ethnic groups from around the world pours in, scientists are deepening their understanding of the differences between populations. Homo sapiens is one species, but cultural and physical separation over time has created ethnic distinctions—"markers", as scientists call them. Most of these variations are insignificant, except as clues to ethnic origin. Others—such as genes that trigger life-threatening illnesses—may be important. Such information has set genomics on a new—and some would say dangerous—path. The potential uses, and misuses, of such racial information weigh on scientists' minds. Data may cause people to question their identity as individuals and as part of an ethnic group. It may not always be easy to reconcile our sense of self with our genetic material. "I have a friend who through a test found out his Y chromosome was European," says Charles Rotimi, director of genetic epidemiology at Howard University's National Human Genome Center. "He had always considered himself African-American and he went into a depression." In response to early concerns about racial profiling, scientists at the Human Genome Project went out of their way to downplay ethnic variations. Humans are 99.9 per cent alike, the sequencing showed, a figure that was leveraged into a call for global harmony. "The concept of race has no genetic or scientific basis," said Francis Collins, head of the Human Genome Project, at the White House ceremony to celebrate the genome completion. Yet a great deal of controversy is now brewing over that 0.1 per cent. A growing number of scientists want to use such information as a way to find cures for devastating diseases. If we know more about the genes that cause susceptibility to cystic fibrosis in whites, or sickle cell anaemia in blacks, they argue, we will move closer to a solution for these illnesses. "Ancestry is imperative to biomedical research," says Mark Shriver, an anthropologist at Pennsylvania State University. But others foresee grave risks in this approach. "The idea that there is a genetic component to race is very dangerous," says Dr Shelby Steele, a sociologist and expert on race relations. "It allows people to declare one group inferior and justify demeaning them." Throughout history, racism has shaped scientific thinking, and vice versa. When Carolus Linneus came up with a species classification system in the 18th century, he placed whites at the top of the Homo Sapiens hierarchy, and blacks at the bottom. The desire to rank people according to their race still runs strong. In 1994, researchers published the highly polemical Bell Curve, which argued that blacks were of inferior, and Asians of superior, intelligence. James Watson, co-discoverer of the structure of DNA, suggested in all seriousness at a lecture two years ago that scientists should inject people with melanin to see if their darkened skin colour would turn them into sex-charged Latin lovers. The experiment was thankfully never conducted. Today's genomics information is already being used to promote the racist agenda of some groups. The web site of US white supremacist David Duke, for instance, includes extensive writings on the subject. As a result, many scientists believe it's best to remain silent on the issue. "We have to think about how (such information) can be used," says David Altschuler, a genomics pioneer at the Whitehead Institute, which helped sequence the human genome. "It can be miscommunicated and misinterpreted." Educating the general public on the connections between genes and race is a futile exercise, many scientists believe. One problem is that the word "race" itself is loaded. To many, "race" means skin colour and hair texture; to others, it is a cultural term. To geneticists, it signifies something else altogether. While appearance has some correlation with genes, physical attributes are just a small part of the story. Anthropologists have shown repeatedly that dark-skinned groups such as the Aborigines of Australia are genetically distant from black Africans. The term "Hispanic", considered a racial description in the US, is genetically meaningless. And while racial tensions between India and England were at the razor's edge during colonial rule, geneticists see little difference between the two groups. Neil Risch, a leader in the field of "population genomics" and a professor of genetics at Stanford, is outspoken in his view that ethnicity—or ancestry, to be more specific—influences a person's genes. But ancestry is not always clearly defined. In the New World, in particular, most people fall somewhere along a continuum with very fuzzy delineations between groups. "Location was the most important factor in determining genetic differences," says Risch. "But with so much global movement and mixing up these days, it's less clear now." People who are considered black in America, Risch points out, are on average 20 per cent Caucasian. And Risch sees race as an evolving phenomenon. If Americans continue intermarrying across ancestral lines, he speculates, a separate US race—defined by specific genetic characteristics, or "markers"—would eventually emerge. If race is such a nebulous genetic concept, why talk about it at all? Because of its value in medical diagnosis and treatment, say researchers. Identifying a patient's ancestry as Amish, for instance, can be crucial from the standpoint of health care. The Old Order Amish, a religiously devout group originally hailing from Germany, rarely marry outside their clan. Such isolation makes the group distinctive from a genetic viewpoint. Scientists have identified some 80 illnesses that have a peculiarly high rate of occurrence among the Amish—including a number of neurodegenerative diseases and infantile glaucoma, which can cause blindness. Building a risk profile for the group, clinicians say, is crucial to early diagnosis and treatment. Armed with new genomics tools, researchers can look at diseases in a different way. Once an ethnic group has been associated with a specific disease, for instance, scientists are able to conduct large-scale studies to determine genes that might be implicated in the condition. The DNA of subjects from a specific ethnicity can be analysed to discover gene mutation patterns. This method was used in a study, published last month in the New England Journal of Medicine, that identified a specific pair of defective genes said to increase the risk of heart failure in blacks. Studying ethnic groups with an eye to improving people's health seems commendable to many. Yet critics fear such information will fuel prejudice. This is because humans, as this year's Nobel winners in economics elucidated, are terrible at understanding two of the hallmarks of genomics: the laws of probability and randomness. Take, for example, the case of breast cancer in Ashkenazi Jews—Jews from eastern or central Europe. In 1995, the US National Institutes of Health (NIH) discovered that Ashkenazi women were up to 10 times more likely to carry a gene mutation associated with the disease. Many people would conclude from this information that the population is suffering an epidemic of breast cancer. Yet it's not so. Why? For one thing, just 1 per cent of Ashkenazi Jews carry the gene (the frequency in the general population was estimated to be as low as 0.1 per cent). Moreover, there are many other genes implicated in the disease, some of which may very well appear with less frequency in the Ashkenazi Jewish population. When the NIH performed a follow-up study in 1996, researchers concluded that women in the group had no higher risk of getting breast cancer than the rest of the population. Ashkenazi Jews have not benefited from this information, say concerned geneticists, but reports of "mutant genes" in the group have been absorbed by the general population. "The risk is that when you read articles on the original data, you might (erroneously) get the impression that Ashkenazi Jews are genetically inferior," says Altschuler. The problem is exacerbated by the way such stories are reported. Had researchers publishing in the New England Journal of medicine last month identified defective genes in whites, the words "Caucasian" or "race" may not have appeared in the article. The scientific community overwhelmingly accepts that some racial groups are more at risk from certain diseases than others. The extent to which those differences are caused by our genes, however, is uncertain. Troy Duster, a historian at New York University and former adviser to the Human Genome Project, warns that when scientists screen ethnic groups for genetic mutations, they may mistakenly identify genes involved in the symptoms, not the cause, of the disease. Researchers would observe characteristically defective genes in Aids patients, for instance, even though the infection is not linked to genetics. "I know there are correlations between race or ethnicity and disease," he says. "That's what scares me! Because a correlation is not the same as a genetic cause." People from distinct populations tend to share habits in diet, living conditions, and even the amount of prejudice they face. Such environmental factors are difficult to untangle from the disease profile. "Blacks suffer more from hypertension than whites," says Duster. "Is that because they have defective genes or because the medical community is less likely to refer them to a specialist? If the health community can blame our genes, they can make the case it's not their fault." Promoters of population genomics say the more data available, the less prejudice will get in the way of medical treatment. "The first thing doctors mention when they sit down to talk about a case is race, age and gender," says Estaban Gonzalez Burchard, a physician and researcher at University of California, San Francisco. "They say: 'Today I saw a Hispanic woman, 40 years old.' At least if our information is more accurate, that kind of talk would be more meaningful." Yet many believe such information is not useful at all. Tensions run so high, in fact, that scientists conducting such research say they receive hate mail and even death threats. Some have expressed fears that the government—or individual universities—could ban such data-gathering. "I don't think we can or should want to stop such research," says Mildred Cho, researcher at Stanford's Center for Biomedical Ethics. "But I do think its benefits are often overstated. The sense that there are differences between populations could have a huge, perhaps very negative impact. We need to keep that in mind." >>>> Copyright - Financial Times - 1 November, 2002 ---------------------------------------------------------------------------- ------------ Keith Hudson, General Editor, Handlo Music, http://www.handlo.com 6 Upper Camden Place, Bath BA1 5HX, England Tel: +44 1225 312622; Fax: +44 1225 447727; mailto:khudson@;handlo.com ________________________________________________________________________
