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DNA probes may offer dazzling insights. But they have helped foster a pernicious new form of discrimination. BY GEOFFREY COWLEY AMIE S'lFBHFNSON HAS SEEN FIRST- hand what modern genetic science can do for a family. When her son David was 2 years old, a pediatri- cian noticed developmental delays and suspected fragile X syndrome, a hereditary form of mental retar- dation. A lab test confirmed the di- agnosis, and the Stephensons spent several years learning to live with it. When David was 6, he visited a neurologist, who scrib- bled "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 condi- tion. "The company didn't care," Stephen- son 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 "biologieal underclass"- a populaA tion of people whose genes brand them as poor risks for employment, insurance, even marriage. The future is arriving fast. Med- 48 NEWSWEEK nBCEMBER 23, 1998 xvescxtEs

® 6 ical labs can now test human cells for bun- dredsofanomalous genes.Besidestraeking ~ rare conditions, such as Huntington's dis- ease and cystic fibrosis, some firms now gauge people's susceptibility to more com- mon scourges. By unmasking inherited mu- tations in p58 (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 Mattha Volner, health-policy director for the Alliance of Genetic Support Groups. "Genetic discrimi- nation 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 8, can make better-in- formed decisions about whether and how to have kids. Some genetic mal- adies can be managed through med- ication ication and lifestyle changes once they're identified. And while know- ing that you ie at special risk for can- cer may be an emotional burden, it can also alert you to the need for in- tensive monitoring. Jane Gorrell knows her family is prone to colon cancer. Her father developed hun- dreds ofprecancerous polyps back in the 1960s, and both she and her sister bad the same experience during the '70s. 771eir condition, known as fa- milial adenomatous polyposis, has since been linked to a mutation in the p53 gene-and Gorrell has learned that one ofher two children inherited it, Though the child has suffered no symptoms, she gets frequent colon exams and is helpingresearchers test a drug that could help save lives. The catch is that no one can guar antee the privacy of genetic informa- tion. Outside of large group plans, insur- ance companies often scour people's medical records before extending cover age. And though employers face some re- strictions, virtually any company with a benefits program can get access to workers' health data. So can schools, adoption agen- cies and the military. Employees of Law- c rence Berkeley Laboratory (LBL), a large research institution owned by the Depart- ment of Energy and operated by the Uni- versity of California, recently discovered that the organization had for three decades been quietly testing new hires' blood and I In another 1996 study, a team led by Lisa urine samples for evidence of various eon- ditions. 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 Fran- cisco lawyer who has tried unsuccessfully ~,()Genelic t,est.ing has t.hc poieniial to rcvolut.~o~~~iic~ 171Cd]CjnC. Bllt: r(',vOllatlonS can bi1vC', CaSUa.ffICS.'" Geller of Harvard Medical School docu- mented more than 200 instances in which healthy people experienced genetic dis- crimination. 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 so- cial 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 50percent chance of develop- ing. Carol Isaacson Barash, the bio- ethics 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 pri- vate adoption agency. A public agency took the'child, eventually matching her with a couple who had previously been rejected them- selves-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 Hunting- ton's afilicted parent choose to learn their own status. Discrimination isn't their only concern; virtually everyone testing positive for the Huntington's gene develops debili- tating 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 George- town University Medical Center surveyed 279 people from families plagued by breast and ovarian can- Q -FRANCIS COLLINS Dircctoriilthe IIuman Genomc Projed THE STEPHENSONS When aninsurancecoropanylearncdthat 1)avid (lefl) had fr.igile X syndromc, it canccled ihc wbulc family's h«lth covcrage 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 com- mon-even in the absence of sophisticated tests. In onerecent study, researchers led by Georgetown University sociologist Virginia Lapham surveyed 882 families belonging to geneticdisease support groups; 22 percent of the respondents said they'd been refused health insurance, and 18 percent claimed theirperceived risks had cost them jobs. eer, only 48 percent wanted to be tested for Q hereditary mutations in BRCA1, a recently e-1 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 84, u' her father of esophageal cancer at 41. When : scientists developed tests that might have W gauged her own susceptibility, she always t' declined to take one. McCarthy doesn t re- a gret that decision. She has developed L] DECEMEER 23, 1996 NEWSWEEK 40 p

Ilorrn.ation, Please One of the wonderful things about science is that there are no stupid questions. Nobel Prize winners ask the same onesyou do. Who cares ifthey are working to cure deadly diseases whileyou're only trying to make sense of thescience pages. Aprimer: Whatisagene? The basic unit of heredity, a gene con- sists of an ordered sequence of chemi- cals called nucleotides and designated by the letters A, T, C or G. A gene is situated on one of the 28 pairs of human chromosomes. It carries instructions for the production of proteins. The se- quence of nucleotides serves as a chem- ical 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 orjust simi- lar) 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 cel] that produced the child breast cancer, but she still has her health coverage, and a life-insurance plan to pro- tect her two sons. Besides depriving people ofpo tentially useful information, the fear of discrimina- tion can hamper scientific progress. Bar bara Weber, a geneticist with the Universi- ty of Pennsylvania Cancer Center, often asks women who learn they have BRCAl mutations to take part in confidential fol- low-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 60 NEWSWEEK DECEMBEaPs,'lJ9B contained a mutation, so will every one of the child's 80 trillion cells. A muta- tion can also be caused by radiation, by 'butagens" (chemicals, such as benzo- E yrene, found in cigarette smoke) or y some vituses. 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 chil- dren. And if both copies are mutated, or if the cell needs both copies to func~ tion, then the cell is no longer able to carry out its job, tions as "pre-existing conditions" unless i 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. Be- cause 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 in- dependent coverage several years ago. Morelli was 28 and in perfect health when she met with an insurance agent and paid ber first premium. A month later, she got her check back, along with a letter saying ber application had been denied because ber father had Huntington's disease, Mo- relli's dad had in fact received that diagno- sis-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 com- panies from discriminating against people with disabilities-and it defines that term broadly enough to include genetic muta- tions 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 in- Fnnnotinn" cove Tnuric Mnlt6v nf fha ACLU, "they ll have an irresistiblfi incentive to use it" Lawmakers are now racing to strengthen the protections. At least 15 states have recently placed re- strictions on insurers or employers, and Congress will consider several bills in the new session. The insur- ance 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 As- sociation of America, each applicant pays the fairest possible price. But most ethicists contend that where health coverage is :coocerned, peo- ple shouldn't be penalised for risks they cant medify. o Discrimination isn't the only po- p tential downside to genetic testing. ~ Some of the new susceptibility tests are only vaguely predictive of ill- ness-and no one forces the compa- 00 nies that offer them to counsel pa- tA KENDRA MCCARTHY Though cancer stalks her family, shc shunned genetic testing.'ifprevention was possible,l would say it makes sense.' 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 muta- tients about what the results actually mean. Even when the tests are sound and the re- sults secure, the knowledge they create can cn dash hopes and divide families. Unfortu- N nately, principled ignorance doesn't alwayr~ w make life easier. L4 n With ANNE UNDEawoon in New York, 9 KAREN aPBmGEN in Chicago N and MARY HAGER in Washington '^t N