At the turn of the millennium, as the disability rights movement prepared to celebrate the 10th anniversary of the signing of the Americans with Disabilities Act, scientists were completing a draft map of the entire human genome, the genetic code--or biological "instruction manual"--that directs the growth and maintenance of cells in an individual. Ironically, though, in acquiring the ability to read the instruction manual--ostensibly advancing human health care--science may have taken steps toward creating a new class of disability as well as solidifying negative perceptions about disability itself.

James Watson's and Francis Crick's discovery of DNA opened the door to manipulating genetic traits back in 1953. It wasn't until 1990, though, that Watson was tapped to head the newly formed Human Genome Project, whose goal was to map and "analyze the structure of human DNA and determine the location of the estimated [30,000] human genes." The purpose? To "help us understand and eventually treat many of the more than 4,000 genetic diseases that afflict mankind."

Perhaps a DNA test will someday allow doctors to individualize drug treatments, avoiding dangerous side effects for people whose genetic makeup causes identifiable problems with specific drugs. No doubt potential treatment benefits are many, but today, about all that genomics can really do is test people for genetic markers that signal predisposition to future disability. But those who choose to look into the genetic crystal ball do so at considerable risk.

Terri Seargent, whose brother died of lung and liver disease caused by alpha-1 antitrypsin deficiency, decided to undergo genetic testing to learn if she, too, might be at risk. Christine Dent also underwent genetic testing to learn if she carried the gene for Huntington's disease, which ran in her family. Although neither had symptoms, both tested positive, and the results of their tests were placed in both women's medical files. Seargent's employer saw her file, considered her too costly an insurance risk, and simply fired her. And Dent, who wanted to make a career of the U.S. Army, was denied admission to officer training school--even though she'd served on the front line in the Gulf War.

Dent and Seargent are poster women for the "healthy ill" or "asymptomatic ill": that huge but uncounted population of individuals who carry some genetic "defect" but are--for the moment--not disabled. In the Brave New World of genomics, this group may come to face the same stigma and discrimination as those of us in the "traditional" disability rights movement. Indeed, as Seargent's and Dent's stories show, that has already started happening.

What drives the genomics boom? Scientists suspect every human being carries a small number of mutated cells that may--or may not--lead to disease. In the late 1970s business began to see there was money to be made from genetic research. Tests, diagnoses, "therapies" and "cures" were the magic words. "Put 'therapeutic' in front of something and you can justify just about anything," says disability scholar Christopher Newell, who has written and lectured about genomics and disability. But predicting disease is no simple matter.

"While genetic tests for a few diseases, like Huntington's chorea, definitely predict eventual illness, we cannot know how certain the onset of genetic illness is until we can understand the environmental triggers," writes Harvard Medical School's Dr. Harold J. Bursztajn. True therapeutic benefits won't come for another 20 to 50 years, says Charles R. Cantor, Ph.D., a leading molecular geneticist.

Still, genomics is already a multibillion-dollar business. "The medical world is kind of splitting people into all of their differences," Mark A. Rothstein, head of the University of Houston's Health Law and Policy Institute told The Minneapolis Star recently.

And those whose differences are seen as undesirable are at greatest risk. Today, the real use of genetic tests is to predict disability in utero, a "benefit" to prospective mothers, who are almost always urged to abort a "defective" fetus.

Abortion of "Undesirables"
Prenatal diagnosis is available for nearly a thousand genetic conditions. By the mid- 1990s, 63 percent of births had been screened for Down syndrome; today, pregnant women receive tests that screen for much more. In December 2000 the British genetics company Cytocell announced it had developed a $150 test that lets doctors screen fetuses for genetic predisposition to low intelligence. A month earlier, University of Rochester researchers had isolated the HOXA1 gene, thought to play a role in the development of autism.

The disability rights movement has harsh words for society's love affair with prenatal testing. "The social purpose of these tests is to reduce the incidence of live births of people with disabilities," says lawyer Lisa Blumberg, who writes about reproductive issues and disability rights.

"The American public appears to have accepted the 'common sense' assumption that prenatal screening and selective abortion can potentially reduce the incidence of disease and disability and thus is good," writes Marsha Saxton of the World Institute on Disability in Prenatal Testing and Disability Rights. "There are many mistaken and misleading views underlying this assumption: that the enjoyment of life for disabled people is necessarily less than for nondisabled people; that raising a child with a disability is a wholly undesirable thing, that we, as a society, have the means to decide who is better off not being born."

James Watson himself certainly seems to subscribe to this view. The flamboyant Watson, who regularly makes headlines with his provocative statements, writes, "The truly relevant question for most families is whether an obvious good to them will come from having a child with a major handicap. By terminating such pregnancies, the threat of horrific disease genes continuing to blight many families' prospects for future success can be erased."

Although he allows that some people with "handicaps" might "through such affliction develop the strengths of character and fortitude," he continues, "seeing the bright side of being handicapped is like praising the virtues of extreme poverty."

Bioethicist and disabilities scholar Adrienne Asch of Wellesley College points out ethical and shortsighted weaknesses in this kind of thinking, calling genetic screening followed by selective abortion "morally problematic" and "driven by misinformation."

"Using prenatal tests to prevent the births of babies with disabilities seems to be self-evidently good to many people," says Asch. Yet when a woman decides to abort an otherwise wanted child upon discovering the child is carrying a defective gene, says Asch, she is allowing "a single trait"--the disability--"to stand for the whole" person. What about other characteristics?

In addition to having spina bifida, for instance, a child may be musically gifted, or highly intelligent. When women choose abortion based on genetic prenatal testing, says Asch, "nobody finds out about the rest" of the child. Prenatal testing for genetic defects thus sends a message to society that life with a disability is worse than no life at all.

Weakness Is Human
If true therapeutic benefits are perhaps a half a century away, why are people other than pregnant women undergoing genetic testing now? Doctors often advise tests for people with family histories of genetic diseases like Huntington's chorea or breast cancer. Some women, on learning they carry the breast cancer gene, opt for radical mastectomies before any evidence of disease shows up. But genetic testing will never pick up more than a small number of the conditions which cause disabilities. "One out of nine women will get breast cancer," says Asch. "Not all of them have the gene for breast cancer."

Yet doctors are increasingly ordering the tests. GeneTests, a Seattle company that lists genetics labs, says more than 175,000 genetic tests were performed in 1996, and experts say the tests are increasing at a rate of 30 percent a year.

Even though genetic testing is on the rise, people are often reluctant to get the results. "First they want the appointment for a test as soon as they can get in. 'Tomorrow, tomorrow!'" Wendy Uhlmann, a genetics counselor at the University of Michigan, told reporter Rick Weiss of The Washington Post. "Then all of a sudden they are canceling and rescheduling the appointment for results. There are some who more than two years later have still not come in for their results."

That's not surprising, since a test can do nothing to prevent or treat the genetic condition. Genetic testing "is not value-neutral," though, says Newell. As Harvard biologist Ruth Hubbard predicted in 1993's Exploding the Gene Myth, testing can create "a new stigmatized class" of people who, "although they have no symptoms, are considered likely to have a particular disability at some point in the future."

Genetic "markers" will be interpreted as "definite evidence of future illness by companies avoiding risk," says Bursztajn. "Knowing every individual's genome could make anybody subject to insurance or employment discrimination. The financial "incentives for insurers to develop methods of predicting genetic risk are great," says geneticist Cantor.

Dent and Seargent certainly found that out.

"I'm at risk for [Huntington's disease], and that's exactly why I don't get tested," Alice Hinkle, president of the Huntington's Disease Society of America's Rocky Mountain Chapter told The Denver Post. "I look at Christy [Dent] and I say, 'That isn't going to happen to me.' If I get tested, it will be as Jane Smith.'"

A study conducted in 1996 by the Genetic Alliance and Georgetown University queried 332 people in genetic disease support groups; 13 percent said they had been denied employment or fired because of a family history of genetic disorders.

Using the Americans with Disabilities Act, employees at a University of California at Berkeley research laboratory sued the school's board of regents a few years ago for testing blood samples for the sickle cell trait without employee consent. They also claimed that their employers failed to provide safeguards to prevent the dissemination of test results. The employees won, and although the university appealed, the employees won the appeal as well.

Viewing genetic discrimination as something different from disability discrimination is "inappropriate," Asch says; yet genetic rights activists don't seem to view the ADA as the answer. Some have called for amending the 1964 Civil Rights Act to bar genetics as a basis for discrimination; others want to see the equal protection clause of the 14th Amendment apply to individuals whose genes predict future disabilities.

Public sentiment seems to be aroused by the idea of "healthy" people facing discrimination because of genetic information in a way it has never been aroused for those who are perceived as "already disabled."

"We need to rethink our dominant notions of 'defect,'" insists Newell. "The human struggle is about coming to terms with our inherent humanity, and weakness--our frailty--is part of that."

Everyone Disabled?
The 1997 movie Gattaca told us that in "the not-too-distant future," people with genetic defects, people known as "in-valids" and "de-gene-erates," will be outcasts. But another scenario may as likely ensue. If, as geneticists now believe, analysis of anyone's genetic code will likely pick up at least a few predictors of disability or illness, we will eventually have proven--as disability activists have been saying all along--that everyone is potentially disabled.

"Everyone will learn they are a walking time bomb, in one way, shape or form," writes Val Brickates, biotechnology correspondent for Knight-Ridder's BridgeNews. "Actuarial tables will be turned to salt. The definition of 'pre-existing illness' will become hopelessly skewed. Those denied coverage because they carry, say, a breast cancer or Type II diabetes gene will invariably unite to lodge massive lawsuits against insurers. Eventually, public outcry would force Congress to pass such restrictive legislation that it will become impossible for health insurers to fulfill their primary corporate mission: to turn a profit."

Brickates believes genetic testing will turn the private-payer system of insurance on its head, ushering in, finally, the era of universal health care. So there may be a silver lining to the cloud disability activists continue to see when they look at genetic testing.

But for now, the cloud looms large. "Many view a society free of people with disabilities as desirable," says Mark Oshinskie, an attorney and board member of the Edmonds Institute, which focuses on the economic impact of health technology. "But what is the existential impact on all individuals when, as eugenic abortion takes firmer hold, disability becomes ever more stigmatized, ever more broadly defined, and ultimately, ever more of an abstraction?"

"Society has latched onto [genetic testing] as a lead weapon in a simplistic war against 'birth defects,'" notes Blumberg. "It is chilling to read decisions in wrongful birth and wrongful life suits where judges opine that avoiding the births of disabled children is a social good. It is equally chilling to hear public health analysts debate whether the abortion rate of "defective fetuses" will be high enough to make state-sponsored prenatal programs cost effective and efficacious."

Chilling, indeed. Not to mention eerily evocative of Nazi Germany's economic "justification" for forced sterilization and mass killing of people with disabilities in their quest for a "superior" race 60 years ago. The need to analyze the ramifications of genetic testing should be evident to anyone acquainted with history, yet, as Blumberg concludes: "The public discourse that we need has been stalled."

Mary Johnson lives in Louisville, Ky., and is editor of Ragged Edge.