Genetic Bias? : Medical Strides Carry With Them a Potential for Abuse in Making Use of Technology

Ellen spent four years getting her doctorate in industrial and chemical engineering. Now, wincing as a company doctor drew a few drops of blood for her employment physical, she could hardly contain her excitement about the job she had been offered at one of the country’s foremost metallurgical research institutes.

Two days later, the phone call came.

“You are perfectly healthy,” the young doctor said. “But tests have revealed that you harbor a gene that can result in decreased levels of a blood enzyme, glucose-6-phosphate dehydrogenase. Without the enzyme’s protection, you have a slightly increased risk of developing a red blood cell disease if you come into contact with certain chemicals in our laboratory.

“I’m sorry,” he said. “The job has been offered to someone else.”

Note From Future

This note from the future illustrates a potential dark side of the biomedical present. The case histories are hypothetical. But the tests already exist and so does the threat of genetic discrimination.

The recent revolution in molecular biology and genetics heralds a new age in medical science. Ongoing efforts to create a map of the entire human genome--the DNA blueprint of heritable traits contained in every cell--promises an ever-widening range of diagnostic and therapeutic benefits. Recently, scientists received the first U.S. approval to inject genetically engineered cells into human patients. Researchers see the procedure as a forerunner of pending gene therapy experiments that may permanently reverse genetic abnormalities.

Biochemical cartographers have already located more than 400 genetic “markers,” or signposts of genetic diseases, on all 46 human chromosomes. They have mapped the exact or approximate locations of genes responsible for muscular dystrophy, Huntington’s disease, some psychiatric disorders and a variety of cancers.

But as scientists learn to read the molecular fine print of the genome--and to interpret and correct the typographical errors that can predestine an individual’s medical fate--others express concern about potential abuse of this technology.

Citing the need for a more complete review of the social and ethical implications of genetic research, activist Jeremy Rifkin turned to the courts in January to halt the first U.S. human gene-transfer experiments.

“As technology and as different cures become available, there will be immense pressure on myself and my peers to undergo different forms of treatment,” said Deborah Kaplan of the World Institute on Disability, based in Berkeley.

“I’m concerned about social pressure, family pressure, pressure from the medical community and real pressure from the insurance industry” to submit to genetic alterations, she told the National Institutes of Health Recombinant DNA Advisory Committee.

Whether such treatments are eventually devised or not, merely testing for genetic traits carries social and ethical risks, experts say.

“There are two very broad questions: Who decides whether or not you’ll get a test and what happens to that information,” said Thomas H. Murray, director of the Center for Biomedical Ethics at Case Western Reserve University.

“Clearly there are going to be these tests. The question is how are we going to use them and what social limit we’re going to put on them,” he said.

Although testing practices are not yet well established, neither are regulations governing their use. Eventually, policy makers may have to confront an apparent discrepancy between the reality of genetic variability and the democratic ideal that all citizens are “created equal.” The issue cuts through existing social mores and legal precedents, encompassing a body of information the framers of constitutional and early statutory protections could never have envisioned.

“Each new (genetic) test is going to raise slightly different ethical questions,” Murray said.

These questions, which relate to the overall balance between an individual’s rights and those of an employer or insurer, are not new. But as scientists refine their understanding of the more than 3,000 diseases known to have genetic components, the questions “are going to come at us much faster,” Murray said.

The Constitution protects citizens from government-inflicted discrimination based on such immutable characteristics as race. To the extent that the Supreme Court has ruled on the issue, federal discrimination on the basis of one’s genome would appear equally precluded.

“If it’s the government that wants the information for whatever reason, there are all sorts of constitutional issues that arise,” said Mark Rothstein, director of the Health Law Institute at the University of Houston. “The government would seemingly have to make a strong showing to gain access to one’s genetic profile, because it invades the individual’s bodily integrity and privacy.”

However, said Lori B. Andrews of the American Bar Foundation in Chicago, “the Constitution protects people from the federal government and, in some cases, from the states, but it doesn’t apply to private companies unless there is a specific statute dealing with the issue.”

“There may be a variety of reasons why an employer may want some of this information, and the legal issues are very unsettled as to whether the employer could make participation (in genetic screening) a valid condition of employment,” Rothstein said.

“Employers are obviously worried about health insurance and health-care costs,” said Lawrence Miike, a project director at the federal Office of Technology Assessment. “My guess is that a lot of employers, if they had no restraints on them, would obviously want to do some kind of testing for increased probability for disease.”

In her book, “Medical Genetics: A Legal Frontier,” Andrews cites studies indicating that industrial physicians sometimes reject job applicants with mild diseases that have no effect on job performance.

“The availability of genetic diagnostic technologies now raises questions about whether laws should be passed protecting people against genetic discrimination by private entities,” she writes.

Andrews and others also express concern that employers may simply filter out all but the most genetically hardy applicants, rather than cleaning up an otherwise unhealthy workplace. Gene mapping and testing “could challenge or overturn a lot of our traditional legal notions about the role of such things as occupational health and safety laws,” Andrews said.

Insurance companies too have a substantial financial stake in knowing an individual’s propensity for illness or early death.

Already some insurers are under fire for requiring AIDS antibody tests as part of their underwriting procedure. Although testing for acquired immune deficiency syndrome falls short of screening one’s genetic profile, it differs from standard blood tests in revealing an individual’s exposure to a virus that may cause disease years later.

Some states--led by California--have made it illegal for insurance companies to require AIDS tests. So some insurance companies now require specialized white blood cell counts that provide indirect evidence of AIDS infection.

“This gives a clue as to what’s going to happen in the area of genetics and how hard it is to prohibit the acquiring of information,” Rothstein said. “Maybe you can ban the use of genetic information, but it’s hard to prohibit people from getting information.”

Meanwhile, underwriters are frightened by the prospect of individuals performing genetic analyses on themselves and keeping the results secret. The home diagnostics market in the United States already boasts more than 60 do-it-yourself kits for detecting such conditions as pregnancy and indirect evidence of colon cancer. Home testing for DNA markers could amplify the effect of the insurance industry’s nemesis--”adverse selection.”

Adverse selection refers to the probability that people privately aware of a medical problem are more likely to seek medical insurance. That, insurers say, can result in their insuring too many high-risk individuals, thus throwing off the statistical tables upon which they base their charges.

In the long run, it will fall upon legislators and the courts to codify the proper use of genetic information. In “Medical Genetics,” Andrews writes, “The legal scheme created to handle genetics will also create the blueprint for a particular type of society.”