Genetic fallout: new technologies are changing the legal landscape.

A woman asks her obstetrician if the kidney disorder that affects her mother is inheritable. He erroneously tells her no, and she gives birth to a child with a serious form of the disorder.

Another woman seeks genetic testing for breast cancer. When she is identified as having a genetic mutation that makes her more likely than the average woman to develop cancer, her health insurer adds a rider to her policy that denies coverage for her cancer treatment.

These two women are attempting to make use of the explosion of information that has been created through genetics research. Genetic tests now enable people to learn the risks of developing particular genetic diseases, of bearing a child affected with a genetic disorder, and of developing a particular illness if they come in contact with certain environmental stimuli. Tests can show that a person will suffer from a late-onset disorder: A healthy 20-year-old could be told that she--or her fetus--will suffer from Huntington's disease, a debilitating neurological disorder, in 30 or 40 years.

Genetics no longer deals with only rare disorders. Genetic tests are being developed for more common diseases such as heart disease, diabetes, and certain cancers. Genetic testing is also being proposed for many behavioral disorders and tendencies such as alcoholism, manic depression, and even excessive "risk-taking" behavior.

People are starting to use information about genetic risks and the availability of genetic diagnostic and treatment services to make major life decisions: where to live, what type of job to take, what type of insurance to purchase, even whether to bear a child. On the darker side, though, genetic information is beginning to be used against people--to stigmatize and discriminate against them.

Genetic testing and the information it generates may change the way we view ourselves as individuals, in relation to our family, and in relation to our community. This information can change the balance of rights and responsibilities in various settings and thus create challenges for the law.

The first question faced is how to ensure that people get appropriate information about genetics. Courts have held that physicians have a duty to inform patients about the availability of genetic testing for serious disorders. This is the basis of "wrongful birth" causes of action recognized in some jurisdictions, in which physicians are sued for not telling parents about the availability of genetic testing for the fetus (or for doing the testing negligently) leading to the birth of a child the parents claim they would otherwise have aborted.(1)

The wrongful-birth cause of action has been based on a variety of medical acts or omissions. They include failure to advise a person that he or she was in a high-risk group for passing on a genetic or chromosomal defect (due to being a member of a particular ethnic group or being past a certain age), failure to inform him or her that a test was available for that defect, and improperly performing the test.

For example, actions have been brought for wrongful birth for not advising women over 35 of the availability of amniocentesis to detect Down's syndrome.(2) Lawsuits have been brought for not properly diagnosing a genetic disorder in a first-affected child in time to prevent conception of a second-affected child. One important case took place in New Jersey in the early 1980s, where a physician was held liable for failing to diagnose cystic fibrosis in a child in time to prevent a couple from conceiving a second-affected child.(3)

Some states have eliminated causes of action against doctors for faulty prenatal diagnosis by creating statutes that provide that "no person shall maintain a cause of action . . . on the claim that but for the negligent conduct of another, a child would have been aborted."(4) But a strong argument could be made that statutes banning wrongful-birth suits are unconstitutional.

In Lifchez v. Hartigan, an Illinois federal district court held that a couple's right to privacy to make reproductive decisions encompasses a right to obtain genetic information with which to make those decisions.(5) The court struck down as unconstitutional a statute forbidding the use of experimental genetic tests on embryos and fetuses.

So far, the cases in which physicians have been held liable have involved serious, generally untreatable disorders that affect children at birth or shortly after. For example, Tay-Sachs disease is a debilitating neurological disorder that is usually fatal by age four.

Increasingly, however, new tests are identifying less serious disorders, serious disorders that are treatable after birth, and disorders that do not appear until much later in life. Putting aside ethical issues about whether couples should consider abortions where the resulting infant would not be imminently and irreparably at risk, questions arise about whether health care providers will be found liable for not warning about these risks and for not informing potential parents about genetic tests to determine them.

For example, if a couple wanted only a male child and, after a prenatal diagnosis, were erroneously told the fetus was a boy, could they sue if the child was a girl? Could they claim damages, for example, for the 41 cents less per dollar that a female makes, multiplied out over her expected lifetime earnings?

The fact that a child might be somewhat disadvantaged by a genetic condition (for example, short stature or female gender) would probably not be sufficient to find liability. In an analogous situation, a boy who was legitimate at birth was not able to sue his father on a claim of wrongful life (for fraudulently inducing his mother into a relationship by saying he would marry her).(6) Similarly, in 1982, the California Supreme Court indicated that in a wrongful life case involving deafness, it would be "unlikely that a jury would ever conclude that life with such a condition is worse than not being born at all."(7)

So far, genetics malpractice cases have involved a reproductive context. However, recombinant DNA techniques and other diagnostic technologies can be used to identify genetic defects that indicate not a risk for the patient's offspring, but a risk for the patient. A test may show that a patient will suffer from a late-onset disorder such as Huntington's disease or that the patient is at risk of developing a particular disease when exposed to certain environmental stimuli.

The duty to provide genetic information will touch more health care professionals as genetic research expands from an emphasis on birth defects to an emphasis on chronic disease. Research on identifying genetic propensities to coronary artery disease or diabetes, for example, will make genetic concerns relevant to every area of medical practice.

Yet few medical schools offer more than a cursory introduction to genetics. Practicing physicians who went to school before the genome era have an inadequate grasp of genetics. Studies by Johns Hopkins School of Medicine professor Neil Holtzman show how poorly physicians understand the sort of probabilistic data that the new genetics will raise.

Holtzman found that genetic reasoning deteriorates during medical school. He asked, "If a test to detect a disease that occurs in 1 of 1,000 people is falsely positive in 5 percent of unaffected people, what is the chance that a person found to have a positive result actually had the disease?" Eighty-four percent of first-year students, 73 percent of third-year students, and 49 percent of interns and residents selected the correct answer, 2 percent.(8) The physicians overestimated the predictive value of the test. When Holtzman posed a similar question using car defects rather than disease, more physicians could correctly answer the question.(9)

Holtzman's research points out the need to educate physicians--and, even more important, patients and the public at large--about the meaning of genetic information. Perhaps only litigation will create a sufficient incentive for this education to take place.

Protecting People

In addition to policy concerns about how to help people get the genetic information they want, there are concerns about how to protect people from getting information they don't want. Some public health officials want to mandate blood tests to determine if people are carriers of a genetic disease or if their fetuses are affected by one. This concept smacks of the turn-of-the-century eugenics movement in the United States when laws were passed to sterilize people who were thought to have the genes for feeblemindedness, epilepsy, prostitution, and pauperism.

Forcing people to learn their carrier status could lead to stigma. This was underscored when health care workers went to the island of Orchemenos in Greece where there was a high incidence of the autosomal recessive genetic disorder called sickle-cell anemia. Since a child with the defect would only be produced if both parents were carriers, the workers began testing everyone in hopes that each carrier would marry a noncarrier.

When the workers later returned to the island, they found that the carriers had been so stigmatized that no noncarriers would marry them. Instead, carriers lied about their status or married other carriers, thus increasing the number of affected children.(10)

In addition, because some genetic defects are more prevalent in certain racial or ethnic groups, identifying those defects may be seen as an additional rationale for discrimination. Our checkered history of dealing with people with disabilities may be worsened if people with disorders such as Down's syndrome are viewed as having slipped through the net of prenatal screening.

Already, every state requires that newborns be screened for certain genetic disorders. Research in genetics is also leading to the development of certain tests that the state might wish to mandate for adults. For example, researchers are exploring an alternative to the invasive prenatal diagnostic techniques of amniocentesis and chorionic villi sampling. The test would allow genetic information about the fetus to be obtained by extracting fetal cells from maternal blood in a simple blood test.(11) State legislators might decide to mandate the tests on all pregnant women. Researchers have suggested that the maternal blood test is suitable for mass screening.(12)

Case law establishes, however, that a competent adult generally has a right to refuse medical care.(13) That right may be overridden in very limited circumstances, such as to prevent a communicable disease that would directly harm others. Even under circumstances where the state has been recognized to have the power to mandate treatment, the state has been incredibly circumspect in using the power. In the early 20th century, at least one court held that vaccinations were required.(14) But the government generally has not undertaken activities to track down people who might have infections, keep them from participating in social life, or force them to be treated.

A competent adult has the right to refuse treatment because each person is entitled to make choices about the amount of risk to take with respect to medical services. A person may refuse a medical intervention to avoid potential psychological harm, not just potential physical harm. For example, a person may refuse surgery on the grounds that it would be disfiguring.

A person may also refuse medical intervention on the grounds that it would require too great a change in lifestyle. For example, a particularly athletic person may choose to avoid an intervention because, although potentially beneficial to health, the intervention would limit physical activities.

It would seem reasonable that people would likewise have a right to refuse mandatory genetic testing, even where the screening is a modest physical intervention (such as a blood test). Genetic testing can result in people's obtaining unwanted information, to their psychological detriment. It can lead to genetic discrimination--such as when insurers or employers make decisions based on genetic information against people.

In the early 1970s, employers discriminated against black employees and job applicants who had sickle-cell trait even though that genetic trait had no relation to the person's health or ability to perform a job.(15) The only significance of sickle-cell trait was that the person would have a 25-percent chance of having a child with sickle-cell anemia if he or she procreated with another trait carrier.(16)

Recent studies reveal current examples of genetic discrimination.(17) In one case, a man's brother was found to have a treatable genetic disorder. The man did not seek testing; he was afraid he would lose his insurance if he tested positive.

This has indeed happened in other cases. When a man's child was diagnosed as having a genetically based kidney disorder that would be expensive to treat, the man's employer switched insurance companies. This way, payment for the son's medical care could be denied because the second company could consider the disorder to be a preexisting condition. When a pregnant woman underwent cystic fibrosis testing and her fetus was diagnosed as positive, her insurance company said it would not pay the child's health care costs.

Since health insurance companies can exclude coverage for treatment of preexisting disorders, genetic testing provides an enormous loophole whereby numerous diseases can be classified as preexisting.

Even a program of universal access to health care may not totally protect people against genetic discrimination. Priorities for scarce procedures such as organ transplantation might be set based on whether or not the patient is likely to suffer from a late-onset genetic disorder.

Employment relationships may be changed by genetic testing as well. Employers may assign workers to tasks not on the basis of expressed interests or talents, but on the basis of the results of genetic testing. The manager with a gene linked to alcoholism or excessive risk-taking behavior may be denied a promotion, no matter what his or her own behavior is like. Rather than clean up the workplace, employers may hire workers with healthy genes who can survive workplace toxins.

Assuring Confidentiality

Because the revelation of genetic information can cause harm to people, cases may be brought in the future against physicians and others who breach confidentiality. Some policymakers have begun to recognize the volatile psychological, social, and financial impact of genetic information. Already, a few state legislatures have passed statutes banning discrimination based on genetic information in the health insurance and employment contexts.

However, most of these laws are too narrow. In Minnesota, the protections extend only to people who are presymptomatic for genetic diseases, not to people who are carriers of recessive disorders.(18) In Wisconsin, the protection extends only to people discriminated against by based on a DNA test, not to people discriminated against based on family history or a test of gene proteins.(19) In North Carolina, the law was adopted in response to discrimination against carriers of the sickle-cell gene, and so only protects these people, not those who are carriers of--or affected by--other genetic disorders.(20)

Even a recent federal initiative does not go far enough. Last March, the Equal Employment Opportunity Commission (EEOC) provided guidance on how the federal Americans with Disabilities Act (ADA) would apply to protect a person who is presymptomatic for a genetic disease. The ADA prohibits employers with more than 15 employees from refusing to hire or otherwise discriminating against people with disabilities or people regarded as having disabilities.(21) A disability is defined as "a physical or mental impairment that substantially limits one or more of the major life activities of [an] individual" and includes "being regarded as having such an impairment."(22)

In its compliance manual, the EEOC wrote that it is illegal for an employer to discriminate against a person based on genetic information relating to illness, disease, or other disorders.(23) As an example, the EEOC indicated that an employer may not refuse to hire because a person's genetic profile reveals increased susceptibility to colon cancer.

Yet, the EEOC has not specifically addressed whether someone can be denied a job because he or she is a completely healthy carrier of a recessive disorder such as cystic fibrosis because the potential employer does not want to pay the health care costs of future affected children.

Nor has it addressed the privacy concerns. Under the ADA, employers are apparently still permitted to order genetic testing for people who have been offered employment, even without permission, as long as employers do not use that information in unfair ways.

In September 1995, a lawsuit was filed against a Department of Energy-funded laboratory, the Lawrence Berkeley National Laboratory, alleging the lab had tested black employees for sickle-cell carrier status without their knowledge and consent.(24)

Because of limitations in public law, most actions to fight breaches of confidentiality and instances of discrimination will be common law actions. The major precedents against liability are the legal rules that protect the confidentiality of information about a patient gained in the course of a doctor-patient relationship.

Courts now recognize causes of action against health care providers and health care institutions for breaches of confidentiality based on breach of contract,(25) violation of privacy, negligence, and breach of fiduciary duty. They could also recognize a cause of action based on interference with contractual relations(26) or infliction of emotional distress. As one court pointed out, "[T]he promise of secrecy is as much an express warranty [on the part of the health care provider] as the advertisement of a commercial entrepreneur."(27)

The need to protect the confidentiality of medical records containing genetic information is particularly strong. Unlike an infectious disease, a genetic disorder is generally immutable.

An inappropriate disclosure may haunt a person throughout life. The revelation of genetic information can cause serious financial, emotional, and perhaps even physical harm to a patient. An employer might decide to fre an employee based on evidence that the employee will suffer from a late-onset disorder. Using the same information, an insurance company might decide not to provide coverage.

Although medical information is generally considered private, the genetics component adds new questions about rights and responsibilities. Having genetic information about one individual means also having information about that person's relatives. If a woman has the gene for breast cancer, does she have a moral responsibility to tell her sister that she, too, might be at risk? And if the woman refuses, can her doctor breach confidentiality and warn her sister?

There is a major exception to confidentiality. In certain instances, a physician may breach confidentiality to protect third parties from harm, such as when a patient might transmit a contagious disease.(28) Some geneticists believe that these precedents protect them if they breach confidentiality and disclose genetic information to a patient's relatives.

In a survey of U.S. geneticists, researchers Dorothy Wertz and John Fletcher found that slightly more than halfwould breach confidentiality and warn relatives over the patient's refusal.(29) The researchers were surprised to find that the geneticists were equally likely to tell relatives about an untreatable disorder as a treatable disorder.

Yet, such warnings not only breach the patient's confidentiality, but may cause psychological or other harm to the person whom the information is suddenly thrust upon. Sure, relatives might want to know that they might have the gene for malignant hyperthermia, a disorder in which a person will die without warning if he or she is administered a common anesthesia. But the relatives might not want to know that they have the gene for an untreatable late-onset disorder such as Huntington's disease. Worse yet, once the information is given, the relatives may become uninsurable because if they know it, they will have to disclose it on insurance applications.

In considering whether a health care provider should contact the patient's relatives over the patient's refusal, various factors need to be weighed. These indude the likelihood that they have the genetic defect, the seriousness of the defect to their health and their children's, and the likelihood that their defect would be otherwise detected.

The President's Commission for the Study of Ethical Problems in Medicine recommended that disclosure should be made only if

* reasonable attempts to elicit volun tary disclosure are unsuccessful,

* there is a high probability of serious harm to an identifiable third party,

* there is reason to believe that disclosure of the information will prevent harm, and

* the disclosure is limited to the information necessary for diagnosis or treatment of the third party.(30)

The new genetic tests are the cutting edge of a biomedical revolution that will make the industrial revolution seem mild. Genetics research may eventually lead to new treatments, but now while certain future diseases are identifiable but not treatable, legal actions must ensure that genetlc mformatlon remams wlthm the concrol of the individual.

Notes

(1) Lori B. Andrews, Torts and the Double Helix: Malpractice Liabilityfor Failure to Warn of Genetic Risks, 29 HOUSTON L. REV. 149, 184 (1992). (2) See, e.g., Becker v. Schwartz, 386 N.E.2d 807 (N.Y. 1978). (3) Schroeder v. Perkel, 432 A.2d 834 (N.J. 1981). (4) See, e.g., MINN. STAT. ANN. [sections]145.424(2) (West Supp. 1994). (5) 737 F. Supp. 1361,1377 (N.D. Ill. 1990), cert. denied, 498 U.S. 1069 (1991). (6) Zepeda v. Zepeda, 190 N.E.2d 849 (Ill. App. Ct. 1963), cert. denied, 379 U.S. 945 (1964). (7) Turpin v. Sortmi, 182 Cal. Rptr. 337, 345 (Cal. 1982). (8) NEIL A. HOLTZMAN, PROCEED WITH CAUTION: PREDICTING GENETIC RISKS IN THE RECOMBINANT DNA ERA 160-61 (1989). (9) Id. (10) See, e.g., George Stamatoyannapoulous, Problems with Screening and Counseling in the Hemoglobinopathies, in BIRTH DEFECTS: PROCEEDINGS OF THE FOURTH INTERNATIONAL CONFERENCE 268, 274 (A.G. Motulski & F.J.G. Ebling eds., 1974). (11) See, e.g., U.W. Mueller et al., Isolation of Petal Trophoblast Cells from Peripheral Blood of Pregnant Women, 336 LANCET 197 (1990). (12) L.A. Herzenberg et al., Fetal Cells in the Blood of Pregnant Women: Detection and Enrichment