Genetic Testing Raises Complex Legal, Ethical, Social Issues

BALTIMORE—“However unfamiliar the territory, physicians, nurses, and other health care providers must understand the murky region surrounding genetic testing where legal, ethical, and social questions overlap science,” said Karen H. Rothenberg, JD, MPA, director of the Law and Health Care Program, University of Maryland School of Law. She spoke at a program on clinical cancer genetics held at Johns Hopkins University.

“Genetic testing produces data different from other kinds of medical information,” Ms. Rothenberg said. She referred to the distinctions as the “six P’s” (see Table ). Genetic information, she said, is “personal, powerful, potentially predictive, pedigree sensitive, permanent, and prejudicial.”

The Six P’s of Genetic Information

Genetic Information Is:

Personal (as unique as an individual’s DNA)

Powerful (or may appear to be)

Potentially predictive (of future health problems)

Pedigree sensitive (it is not just about individuals, but about their families, who may not want the information)

Permanent (currently, or at least not easily changed by gene therapy)

Prejudicial (historically used to discriminate against populations)

Legal issues that may crop up when dealing with genetic testing include informed consent, discrimination, privacy, liability, and family rights. She provided specific examples and advice on how to avoid potential legal problems.

 Informed consent has its benefits and risks, but its context is constantly changing, she said. For instance, the predictive value of a genetic test may not be known or may have varying usefulness in diagnosis. There is a risk of misinterpretation among patients or in the community, or there may be limited data on the effectiveness of preventive or interventional strategies.

 The effect on health behavior may not always be straightforward. Would a hypothetical test for lung cancer susceptibility, for example, empower or paralyze people? Would a negative test free people from the fear of lung cancer and so encourage them to smoke—leading to other smoking-related illnesses?

“There is great difficulty in quantifying social risk,” Ms. Rothenberg said. “Much depends on patients’ personal histories. The views of two people may differ depending on whether they see themselves as ‘healthy’ or a cancer patient.”

 Legal prohibitions on genetic discrimination in health insurance have been proposed and passed in some states, she said. Generally, these have stated that insurance companies may not require or request genetic tests, may not ask for results, may not base coverage or benefits on genetic testing, and may not consider genetic testing in determining rates.

While these laws were enacted to protect consumers, they share a number of problems. “Most focus on test results, but say nothing of family history or other sources of information,” she said (although a new Maryland law covers this point). “Half the people in the United States get their health insurance under ERISA, which is not included under state legal protection, so we need a federal solution. Now we’re trying to educate Congress so we can reap the benefit of the Human Genome Project.”

The federal Health Insurance Portability and Accountability Act (HIPAA, or the Kennedy-Kassebaum Act) states that genetic information cannot be considered a pre-existing condition, nor can it be used to determine insurance eligibility. But the bill says nothing about genetic privacy rights or about the practice of requesting genetic testing as a condition of medical coverage.

On the other hand, the Equal Employment Opportunity Commission has interpreted the Americans with Disability Act to say that a disability may be created on the basis of genetic information, citing predisposition to colon cancer as an example. However, this interpretation has not yet been tested in the courts.

“Thus we need a federal law saying that employers cannot discriminate on the basis of genetic information,” Ms. Rothenberg said. Congress might decide to deal with employment and health insurance issues together or by specific genetic legislation on each topic.

Family issues. “Perhaps the most complex questions arise not in Congress,” Ms. Rothenberg said, “but at the intersection of medical knowledge, ethical issues, and family dynamics.” The individual autonomy model that is a part of contemporary medical ethics “crumbles when testing genetics,” she said. “The family is the unit under discussion, not the individual.”

Both patients and their families may believe they have a right to know the outcome of genetic tests—and a right not to know, as well. Genetic information can throw a harsh light onto social and genetic relationships and intergenerational issues. Expectations of privacy may vary widely, and laws generally do not specifically immunize health care providers against lawsuits based on their giving or not giving genetic information.

“We value information in the health care system,” she said. “Doctors, genetic counselors, and nurses have to do good risk assessment with patients and then maintain good communication with their families when that is desired.”

Deciding on genetic testing for children depends on the disease and on the test. Children aren’t ordinarily tested for adult-onset diseases until they reach majority status. “Parental anxiety is not sufficient reason to test,” she said, although there may be a few cases in which medical benefits outweigh psychological harm.

“But there are professionals who believe it is medically appropriate to offer genetic testing if you are looking for a childhood disease, there is an effective intervention, and the test can be adequately interpreted,” she said.

Genetic information is already a part of family law and the court system. “When people fight each other in court, they want to win,” she said, and that means bringing any available evidence.

Besides the obvious area of paternity, Ms. Rothenberg said, genetic testing might be dragged into custody battles in divorce trials. “Could a mother with a mutation predisposing her to breast cancer, for example, be denied custody of her children because the father believes he will live longer?” she hypothesized. A court might rule it would be in “the best interest of the child” to live with the parent who did not have a genetic predisposition to disease.

Finally, Ms. Rothenberg asked, “how can law support health care providers in taking the right steps in the age of genetic information?” She gave this advice:

Disclose to patients the benefits, risks, and limitations of genetic testing. “Studies have show that if something goes wrong in the operating room, the patient is more likely to sue if prior communication was lacking,” she said.

Follow up and stay in contact with the patient after genetic testing. Establish and maintain a working doctor-patient relationship.

Maintain confidentiality.

Be aware of the risk to others of genetic information and talk to patients about those issues.

Anticipate potential legal, ethical, and social issues before testing.

Understand the dynamics of the patient’s family. Encourage family involvement but be aware of potential problems.

Avoid coercion by the patient’s family or by other health care providers to reveal test results.

Be aware of applicable state and federal laws.