Law and the laboratory: genetic research prompts concerns about bias.

In laboratories around the country, scientists are at work charting the human gene map, discovering as they go the mutations that turn a normal gene into an agent of disability and disease.

In courtrooms and universities and legislative halls, forward thinkers are at work charting the legal and ethical territory where the gene-mapping effort is likely to lead. As researchers continue to identify gene mutations that cause inherited disorders like breast cancer, Huntington's disease, and sickle-cell anemia--possibly leading to new treatments and perhaps even cures-legal scholars and others are mulling the potential downside to the upward march of science. Particularly, they warn that greater availability of genetic information could foster a new form of bias: discrimination based on a person's flawed DNA.

One consequence of genetic research might be "the creation of a genetic underclass of people who are stigmatized and excluded from certain benefits" like jobs and insurance, said Lori Andrews, a professor at Chicago-Kent College of Law. Andrews is chair of the National Institutes of Health/Department of Energy Working Group on the Ethical, Legal, and Social Implications (ELSI) of the Human Genome Project, which is the government-funded gene-mapping program.

Anecdotal evidence collected by the ELSI working group, private researchers, and genetic support groups bolsters the claim that people who carry genetic anomalies may face discrimination in getting and keeping jobs and insurance. According to a recent study by researchers at Georgetown University, many respondents with genetic disorders believed they were denied insurance or denied or fired from a job because of an inherited disease. (E. Virginia Lapham et al., Genetic Discrimination: Perspectives of Consumers, 274 Science 621 (Oct. 25, 1996).)

The researchers highlighted two examples culled from interviews with respondents. A woman with a skeletal disorder reported she was fired the day after she told her supervisor about her condition. She was reinstated after she consulted a lawyer. In a second case, a man with a sex chromosome disorder said he was denied a job after a preemployment physical exam revealed the disorder.

In a 1995 report, the ELSI working group cited the case of a healthy four-year-old boy who was twice denied medical insurance. Although his father was accepted for coverage, the boy's application was rejected because he carried the genetic trait for a heart disorder that killed his mother and uncle.

Stories like these "suggest that people are being discriminated against, even healthy relatives of people with genetic disorders," said Andrews.

Because of fear of discrimination, 9 percent of respondents in the Georgetown study refused to be tested for genetic conditions. This finding raised two concerns among the study's authors. Fear of genetic discrimination "eliminates the opportunities of individuals to learn that they are not at increased risk for the genetic disorder in the family or to make lifestyle changes to reduce the risks or seriousness of the condition," the authors wrote. "It may also affect the number of people willing to participate in scientific research."

The survey participants did not constitute a random sample, so "the findings are applicable only to this group," the researchers said. Nevertheless, "the level of perceived discrimination points to the need for more information to determine the extent and scope of the problem."

Protecting privacy

Although no one knows how often people lose jobs or insurance because of an inherited medical condition, lawyers and lawmakers already are looking for ways to prevent and remedy the misuse of genetic information. Andrews and others stress that prohibiting discrimination is not enough. They say that for antidiscrimination protections to succeed, statutes and court decisions must also ensure that people can control who has access to their genetic information and for what purposes.

"People are concerned [about bias] and would prefer, all things being equal, not to share information about their genetic makeup, which is understandable," said George Annas, a professor of health law at Boston University. Annas has proposed a federal Genetic Privacy Act that would bar genetic testing without the person's consent and would also prohibit test results from being revealed to anyone without permission.

The consent issue is central to two lawsuits on opposite coasts testing whether employees have a right to genetic privacy in the workplace.

In a California case, employees at a Berkeley research laboratory claim that for more than a decade the lab tested African American workers for sickle-cell anemia and the genetic trait for the disease without their consent. Employees were also tested for syphilis and pregnancy without consent. (Norman-Bloodsaw v. Lawrence Berkeley Laboratory, No. C-95-3220 VRW (N.D. Cal. appeal filed Dec. 2, 1996).)

Vicki Laden, an attorney at the Employment Law Center in San Francisco, who represents the plaintiffs, said workers at the Lawrence Berkeley Laboratory willingly gave urine and blood samples for what they thought were routine tests like cholesterol screening. Hispanic and African American employees were disproportionately subjected to repeated testing, she said.

The undisclosed testing was discovered in 1995 when an employee involved in a workers' compensation claim reviewed her personnel records and found that she had been tested for pregnancy without her knowledge. Later that year, Laden filed a class action on behalf of all tested employees, alleging violations of privacy, equal protection, and the Americans with Disabilities Act (ADA). The trial court dismissed the case, and the plaintiffs have appealed to the Ninth Circuit.

Laden said that because discovery was not allowed to proceed, it remains unclear whether any employee suffered discrimination as a result of the testing.

"There's been a pattern of promotions being denied along the lines of race and national origin" that might be linked to findings that certain employees carried the sickle-cell gene mutation, Laden said. But without formal discovery, "we don't know what's been happening with the results of these tests."

Laden said sensitive medical testing such as genetic screening should be performed with confidentiality ensured and counseling available. "Employers shouldn't be in the business of conducting genetic testing," she said.

A similar claim is being made in a Boston wrongful termination case in which two employees of a telecommunications company say they were fired for refusing to give hair samples for drug testing and "medical research." Their lawsuit, filed last year, alleges that the company violated their right to privacy and freedom from unreasonable search and seizure. (Werner v. Vyvx, Inc., No. 96-5912 H (Mass., Suffolk County Super. Ct. filed Oct. 23,1996).)

The two employees of Global Access Telecommunications Services, Inc., "were concerned that strands of their hair would be kept in a plastic bag with their Social Security number on it" and could be used for genetic testing, said Harvey Schwartz, the Boston lawyer representing them. The employees were willing to give urine samples for drug testing.

Company officials told employees the hair samples would be used in a research study seeking to validate the use of hair for drug testing. According to the complaint, the company refused to answer employees' questions about whether genetic tests would be conducted on the samples. The case is currently in discovery.

Laden said litigation over genetic testing in the workplace is likely to increase as the tests become more affordable for employers. "So far, genetic testing hasn't been cost effective," she said. "That's been the main restraint on employers using the tests."

In the legislatures

Advocates for greater protection of genetic information are pushing for new federal and state laws. They advocate banning genetic testing by employers, or at least limiting it to cases when it is consistent with a business necessity.

"That would eliminate 99.9 percent of the testing," Laden said. "Most of this testing is not job related."

The first federal protection for workers came in 1995 when the U.S. Equal Employment Opportunity Commission (EEOC) issued a guideline clarifying that people who carry gene mutations are protected by the ADA. "One's genetic anomaly or predisposition to disease has no bearing on one's ability to do the job," said Paul Steven Miller, an EEOC commissioner. "It shouldn't be the basis for an employment action."

Genetic discrimination in insurance was targeted last year in the Health Insurance Portability and Accountability Act of 1996, better known as the Kassebaum-Kennedy Act. The law provides that people with a genetic mutation cannot be considered to have a preexisting condition disqualifying them from coverage. It also says insurers cannot discriminate based on health-related status, including whether a person has a genetic predisposition to a disease.

Karen Rothenberg, director of the law and health care program at the University of Maryland School of Law, called the Kassebaum-Kennedy law "a tiny baby step in the right direction, but no one should think we've resolved all the issues." She said the law doesn't cover self-insured health plans and doesn't prevent insurers from charging higher premiums to people with genetic anomalies.

Legislatures in at least 10 states have enacted laws addressing genetic discrimination and privacy in employment; at least 14 states have similar laws applying to health insurance. But Rothenberg said many of the laws are narrowly drawn and apply only to carriers of gene mutations for certain disorders, particularly sickle-cell anemia. Others prevent discrimination only as a result of genetic testing. Those laws would not apply if an employer or insurer obtained the information from other sources, such as medical examinations or family histories.

"You really need to get a federal solution, and Kassebaum-Kennedy is not the solution," Rothenberg said.

Congress seems likely to revisit the issue this year. A bill introduced in January by Rep. Louise Slaughter (D-N.Y.) adopts language recommended by the ELSI working group and the National Action Plan on Breast Cancer, an advocacy group seeking to eradicate the disease. Slaughter's bill would outlaw genetic discrimination in insurance and require a person's written consent before his or her genetic information could be disclosed. Several similar bills banning discrimination in both insurance and employment were pending in the last Congress and may resurface this year.

Rothenberg cautioned that the ethical and legal questions surrounding genetic research go far beyond the potential for job and insurance bias. As genetic information becomes more readily available, society will have to confront larger issues: How can the accuracy of genetic test results be ensured? What are the ethical and legal duties of testers? And what should people who have been tested do with genetic information once they have it?

"It's wrong," Rothenberg commented, "to think that if we could just fix [the discrimination problem], the challenges would be gone."