JAMIE STEPHENSON HAS SEEN firsthand what modern genetic science can do for a family. When her son David was 2 years old, a pediatrician noticed developental delays and suspected fragile X syndrome, a hereditary form of mental retardation. A lab test confirmed the diagnosis, and the Stephensons spent several years learning to live with it. When David was 6, he visited a neurologist, who scribbled "fragile X" on an insurance-company claim form. The company responded promptly--by canceling coverage for the entire family of six. There is no medical treatment for fragile X, and none of David's siblings had been diagnosed with the condition. "The company didn't care," Stephenson says. "They just saw a positive genetic test and said, "You're out'."
From the dawn of the DNA era, critics have worried that genetic testing would create a "biological underclass"--a population of people whose genes brand them as poor risks for employment, insurance, even marriage. The future is arriving fast. Medical labs can now test human cells for hundreds of anomalous genes. Besides tracking rare conditions, such as Huntington's disease and cystic fibrosis, some firms now gauge people's susceptibility to more common scourges. By unmasking inherited mutations in p53 (main story) and other genes, the new tests can signal increased risk of everything from breast, colon and prostate tumors to lymphoma and leukemia. Many of the tests are still too costly for mass marketing, but that will change. And as the Stephensons' story suggests, the consequences won't all be benign. "This is bigger than race or sexual orientation," says Martha Volner, health-policy director for the Alliance of Genetic Support Groups. "Genetic discrimination is the civil-rights issue of the 21st century."
No one would argue that genetic tests are worthless. Used properly, they can give people unprecedented power over their lives. Prospective parents who discover they're silent carriers of the gene for a disease like Tay-Sachs, which causes death by the age of 3, can make better-informed decisions about whether and how to have kids. Some genetic maladies can be managed through medication and lifestyle changes once they're identified. And while knowing that you're at special risk for cancer may be an emotional burden, it can also alert you to the need for intensive monitoring. Jane Gorrell knows her family is prone to colon cancer. Her father developed hundreds of precancerous polyps back in the 1960s, and both she and her sister had the same experience during the '70s. Their condition, known as familial adenomatous polyposis, has since been linked to a mutation in the p53 gene--and Gorrell has learned that one of her two children inherited it. Though the child has suffered no symptoms, she gets frequent colon exams and is helping researchers test a drug that could help save lives.
The catch is that no one can guarantee the privacy of genetic information. Outside of large group plans, insurance companies often scour people's medical records before extending coverage. And though employers face some restrictions, virtually any company with a benefits program can get access to workers' health data. So can schools, adoption agencies and the military. Employees of Lawrence Berkeley Laboratory (LBL), a large research institution owned by the Department of Energy and operated by the University of California, recently discovered that the organization had for three decades been quietly testing new hires' blood and urine samples for evidence of various conditions. They claim blacks were screened for the sickle-cell trait, Latinos for syphilis and women for pregnancy. "I can't say the information was put to some incredibly harmful use, because we don't know what happened," says Vicki Laden, a San Francisco lawyer who has tried unsuccessfully to sue the lab for civil-rights violations. LBL recently stopped the testing.
How often is genetic information used against people? No one knows, but there are signs that discrimination is fairly common--even in the absence of sophisticated tests. In one recent study, researchers led by Georgetown University sociologist Virginia Lapham surveyed 332 families belonging to genetic-disease support groups; 22 percent of the respondents said they'd been refused health insurance, and 13 percent claimed their perceived risks had cost them jobs.
In another 1996 study, a team led by Lisa Geller of Harvard Medical School documented more than 200 instances in which healthy people experienced genetic discrimination. As in Lapham's study, many participants told of losing their health and life insurance. But that wasn't their only problem. One respondent was denied a job selling insurance after he disclosed that he had hemachromatosis, a hereditary iron-storage problem that can be treated for about $1,200 a year. A social worker who had excelled during her first year at a Wisconsin health-care company was quickly forced out after mentioning that her uncle had Huntington's, a degenerative brain disease that victims' offspring have a 50 percent chance of developing. Carol Isaacson Barash, the bioethics consultant who administered the Geller study, recalls another case in which a woman in the early stages of Huntington's disease was unable to place her child with a private adoption agency. A public agency took the child, eventually matching her with a couple who had previously been rejected themselves--because one partner carried the Huntington's gene. "It's a stark commentary on how society regards people at risk," says Barash.
Not surprisingly, people from high-risk families have come to fear tests almost as much as disease. Lori Andrews, a Chicago law professor and former head of a federal task force on the social implications of genetic research, notes that only 15 percent of people with a Huntington's afflicted parent choose to learn their own status. Discrimination isn't their only concern; virtually everyone testing positive for the Huntington's gene develops debilitating symptoms during middle age, and doctors can do nothing to help. But people who might benefit from genetic tests are almost as leery. When researchers at the Georgetown University Medical Center surveyed 279 people from families plagued by breast and ovarian cancer, only 43 percent wanted to be tested for hereditary mutations in BRCA1, a recently discovered gene that is often implicated in those diseases. Many said the prospect of discrimination scared them off. Kendra McCarthy, a 47-year-old administrator at the Virginia Department of Mental Health, saw her mother die of breast cancer at 34, her father of esophageal cancer at 41. When scientists developed tests that might have gauged her own susceptibility, she always declined to take one. McCarthy doesn't regret that decision. She has developed breast cancer, but she still has her health coverage, and a life-insurance plan to protect her two sons.
Besides depriving people of potentially useful information, the fear of discrimination can hamper scientific progress. Barbara Weber, a geneticist with the University of Pennsylvania Cancer Center, often asks women who learn they have BRCA1 mutations to take part in confidential follow-up studies. She wants to know which strategies are most effective for preserving their health. "We have the tools to answer these questions," she says. "All they have to do is tell us how they're doing every six months." Yet three fourths of the women she approaches say no.
The federal government is now taking steps to make genetic information less threatening. The recently enacted Health Insurance Portability and Accountability Act (better known as Kennedy-Kassebaum) bars insurers from treating genetic mutations as "pre-existing conditions" unless they're causing illness. The insurance act also guarantees coverage to anyone leaving one group plan for another, whatever his pre-existing conditions. That will make switching jobs easier for many people, but ethicists say the act is only a first step. Because it covers only group plans and doesn't deal with disability insurance, it won't do much for folks like Theresa Morelli, an Ohio lawyer who applied for independent coverage several years ago. Morelli was 28 and in perfect health when she met with an insurance agent and paid her first premium. A month later, she got her check back, along with a letter saying her application had been denied because her father had Huntington's disease. Morelli's dad had in fact received that diagnosis--erroneously, it turned out--and her doctor had made a note of it in her chart.
The restrictions on employers are as porous as those on insurers. The 1990 Americans with Disabilities Act bars companies from discriminating against people with disabilities--and it defines that term broadly enough to include genetic mutations that have yet to cause symptoms. But the act does nothing to keep employers from gathering medical information. "As long as employers have access to genetic information," says Lewis Maltby of the ACLU, "they'll have an irresistible incentive to use it."
Lawmakers are now racing to strengthen the protections. At least 15 states have recently placed restrictions on insurers or employers, and Congress will consider several bills in the new session. The insurance industry argues that it should be free to charge people rates that reflect their risks, at least when dealing with individuals and small companies. That way, says Richard Coorsh of the Health Insurance Association of America, each applicant pays the fairest possible price. But most ethicists contend that where health coverage is concerned, people shouldn't be penalized for risks they can't modify.
Discrimination isn't the only potential downside to genetic testing. Some of the new susceptibility tests are only vaguely predictive of illness--and no one forces the companies that offer them to counsel patients about what the results actually mean. Even when the tests are sound and the results secure, the knowledge they create can dash hopes and divide families. Unfortunately, principled ignorance doesn't always make life easier.
One of the wonderful things about science is that there are no stupid questions. Nobel Prize winners ask the same ones you do. Who cares if they are working to cure deadly diseases while you're only trying to make sense of the science pages. A primer:
What is a gene?
The basic unit of heredity, a gene consists of an ordered sequence of chemicals called nucleotides and designated by the letters A, T, C or G. A gene is situated on one of the 23 pairs of human chromosomes. It carries instructions for the production of proteins. The sequence of nucleotides serves as a chemical code, determining which protein the gene makes. Genes take the form of a double helix.
Where are genes?
Every cell in the body contains exactly the same genes (roughly 100,000). We have two copies (identical or just similar) of every gene. The only exceptions are sperm and egg cells, which contain one for each chromosome pair rather than both, and red blood cells. What makes one cell different from another (liver from muscle, for instance) is not their genes--which are identical--but which of the genes are turned on.
What is a mutation?
Any change in the normal sequence of nucleotides in a gene. A mutation can be the deletion of a nucleotide or the change of one nucleotide to another.
What causes a mutation?
A mutation can be inherited: if the egg or sperm cell that produced the child contained a mutation, so will every one of the child's 30 trillion cells. A mutation can also be caused by radiation, by "mutagens" (chemicals, such as benzopyrene, found in cigarette smoke) or by some viruses.
What happens if a gene is mutated?
It no longer produces the protein it was designed to. Since a cell has two copies of each gene, often it can get by with only one healthy version, and a mutation has no medical consequences. But if the mutation occurs in an egg or sperm cell, it can be passed on to children. And if both copies are mutated, or if the cell needs both copies to function, then the cell is no longer able to carry out its job.