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Genetic Testing - Ethical Considerations—choicesand Challenges

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Rapid advances in genetic research since the 1980s have challenged scientists, health care professionals, ethicists, government regulators, legislators, and consumers to stay abreast of new developments. Understanding the scientific advances and their implications is critical for everyone involved in making informed decisions about the ways in which genetic research and information will affect the lives of current and future generations. American citizens, scientists, ethicists, legislators, and regulators share this responsibility. The pivotal importance of these societal decisions was underscored by the allocation of 5% of the budget of the Human Genome Project for the study of ethical, legal, and social issues related to genetic research. To date, consideration of these issues has not produced simple or universally applicable answers to the many questions posed by the increasing availability of genetic information. Ongoing public discussion and debate is intended to inform, educate, and help people in every walk of life make personal decisions about their health and participate in decisions that concern others.

As researchers learn more about the genes responsible for a variety of illnesses, they can design more tests with increased accuracy and reliability to predict whether an individual is at risk of developing specific diseases. The ethical issues involved in genetic testing have turned out to be far more complicated than originally anticipated. Initially, physicians and researchers believed that a test to determine in advance who would develop or escape a disease would be welcomed by at-risk families, who would be able to plan more realistically about having children, choosing jobs, obtaining insurance, and going about their daily lives. Nevertheless, many people with family histories of a genetic disease have decided that not knowing is better than anticipating a grim future and an agonizing, slow death. They prefer to live with the hope that they will not develop the disease rather than having the certain knowledge that they will.

The discovery of genetic links and the development of tests to predict the likelihood or certainty of developing a disease raise ethical questions for people who carry a defective gene. Should women who are carriers of Huntington's disease or cystic fibrosis have children? Should a fetus with the defective gene be carried to term or aborted? One health insurance company agreed to pay for prenatal cystic fibrosis testing for a mother who already had one affected child, but the company insisted that if the baby was affected, the mother would have to terminate the pregnancy or it would not cover the child's future medical bills.

There are also concerns about privacy and the confidentiality of medical records and the results of genetic testing and possible stigmatization. Some people are reluctant to be tested because they fear they may lose their health, life, and disability insurances, or even their jobs if they are found to be at risk for a disease. Genetic tests are sometimes costly, and some insurers agree to reimburse for testing only if they are informed of the results. The insurance companies feel they cannot risk selling policies to people they know will become disabled or die prematurely.

The fear of discrimination by insurance companies or employers who learn the results of genetic testing is often justified. An insurance carrier may charge a healthy person a higher rate or disqualify an individual based on test results, and an employer might choose not to hire or to deny an affected individual a promotion. The American Society of Medical Genetics and most other medical professional associations agree that people should not be forced to choose between having a genetic test that could provide lifesaving information and avoiding a test to save a job or retain health insurance coverage.

Unanticipated Information and Results of
Genetic Testing

Sometimes genetic testing yields unanticipated information, such as paternity, or other unexpected results, such as the presence of a disorder that was not sought directly. Many health professionals consider disclosure of such information, particularly when it does not influence health or medical treatment decision making, as counterproductive and even potentially harmful.

The American Society of Human Genetics (ASHG) is the primary professional membership organization for human geneticists in the United States. Its 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others involved in or with a special interest in human genetics. The ASHG recommends that family members not be informed of misattributed paternity unless the test requested was determination of paternity. The ASHG offers comparable guidelines regarding other unexpected results such as associations among diseases. For example, while performing screening for one disease, information about another disease may be discovered. Although the person may have requested screening for the first disorder, the presence of the second disorder may be unanticipated and may lead to stigmatization and discrimination on the part of insurance companies and employers. The ASHG encourages all health professionals to educate, counsel, and obtain informed consents that include cautions regarding unexpected findings prior to performing genetic testing.

Advertising Genetic Testing Directly to Consumers

Although prescription pharmaceutical drugs have been advertised directly to consumers for more than two decades, direct consumer advertising of genetic tests is a relatively recent phenomenon. In "Limitations of Direct-to-Consumer Advertising for Clinical Genetic Testing" (Journal of the American Medical Association, vol. 288, no. 14, October 9, 2002), Sarah Gollust, Sara Chandros, and Benjamin Wilford considered the potential benefits and risks of direct-to-consumer advertising. Gollust, Chandros, and Wilford observed that such advertisements "describe complex, confusing, and anxiety-producing genetic concepts for the consumer. Drawing on themes of choice, hope, fear, and peace of mind, these advertisements validate patients' worries about their genetic risks and appeal to their desire to assert control over potential outcomes. Direct-to-consumer advertisements will likely become more frequent as increasing numbers of genetic tests become available and testing services seek to compete in this expanding market."

Gollust, Chandros, and Wilford described much of the advertising as containing unsubstantiated, inaccurate, manipulative, and misleading content describing material that is complex and potentially confusing for even the most educated and informed consumers. They also fault advertisers for failing to include risk information to balance their claims of effectiveness and neglecting to mention the potential risk of genetic discrimination. The authors wrote that "even with more suitable content, consumer-directed promotions may be premature. Public understanding of genetics is characterized by misconception and exaggerated expectation, a context advertisers can use to their advantage." They argued that scientific evidence and consensus, rather than commercial interests, should drive increased use of genetic testing.

Gollust, Chandros, and Wilford also lamented the absence of regulatory oversight of such advertising and the fact that, unlike pharmaceuticals that undergo pre-market review by the Food and Drug Administration (FDA), genetic testing services do not yet undergo comparable scrutiny or review. Only tests that are considered diagnostic devices or those that are packaged and sold as kits require premarket FDA approval.

Personal Choices and Psychological Consequences of
Genetic Testing

The results of genetic tests may be used to make decisions such as whether to have children or end a pregnancy. Results that predict the likelihood that an individual will develop a disease may affect decisions about education, marriage, family, or career choices. The decision to undergo genetic testing and the results of the tests not only affect the individual tested, but also his or her family members. For example, when an unaffected patient requests a genetic susceptibility test, another test of an affected relative may be required to accurately calculate probability. Family members may vary in their willingness to share genetic information and their desire to know about genetic risks.

There are psychological consequences of genetic testing and coming to terms with the results. People may be relieved or distressed when they learn the results of a genetic test. The results can change the way they feel about themselves and can influence their relationships with relatives. For example, family members who discover they are carriers for cystic fibrosis may feel isolated or estranged from siblings who have opted not to be tested. On the other hand, those who find out they do not have a genetic mutation for Huntington's disease may feel guilty because they were spared and other family members were not, or they may worry about assuming responsibility for family members who develop the disease.

The complexity of genetic testing and the uncertainty of many results pose an additional psychological challenge. The results of predictive genetic tests are often expressed in probabilities rather than certainties, and, even for people with a high probability of developing a disease, there are often conflicting opinions about the most appropriate course of action. For example, a woman who tests positive for BRCA1 or BRCA2 has an increased lifetime risk of developing breast or ovarian cancer or both, but it does not mean that her risk of developing either or both is 100%. Depending on her personal circumstances and the medical advice she receives, she may opt to intensify screening to detect disease; use prescription medication intended to reduce risk, such as tamoxifin; or undergo preventive procedures such as mastectomy and oophorectomy.

Even a negative test result can be stressful, creating nearly as many questions as it does answers about disease risk. A negative test result for BRCA1 or BRCA2 in a woman with an affected family member (one who has the genetic mutation) means that though she does not have the genetic mutation, her risk is the same as that of the general population. There are multiple factors associated with the risk of developing breast cancer that are not identified through genetic testing, such as the age at which a woman has her first child. In addition, most breast cancer is not believed to be hereditary, and most women with diagnosed breast cancer do not test positive for BRCA1 or BRCA2 genetic mutations.

PSYCHOLOGICAL ISSUES OF PRENATAL, CARRIER, AND PREDICTIVE GENETIC TESTING.

Caryn Lerman et al. examined the psychological issues involved in various types of genetic testing in "Genetic Testing: Psychological Aspects and Implications" (Journal of Consulting and Clinical Psychology, vol. 70, no. 3, June 2002). Although there is little literature describing the psychological impact of prenatal testing, Lerman and her associates concluded that, while many patients experience anxiety before undergoing testing, the studies offer no evidence of lasting significant psychological distress as a result of testing.

Although some studies report psychological distress resulting from carrier testing, as with prenatal testing, there are no significant long-term effects. Lerman et al. attributed this finding to the observation that many people appear highly motivated to seek testing for conditions that are life threatening and for conditions for which treatment is available and so are generally associated with more favorable attitudes regarding the benefits of testing. As expected, the response to carrier testing depends on the results. Many noncarriers report relief and a general sense of well-being about their future child-bearing. In contrast, carriers report feelings of hopelessness about the health of their future children.

While prenatal and carrier testing are primarily used to determine the risk of disease for offspring, predictive genetic testing focuses on the individual's own risk for developing a disease. Intuitively, it might be expected that people would experience the most stress while undergoing testing to predict their likelihood of developing disorders such as Huntington's disease or cancer; however, the few studies conducted show reductions in distress among noncarriers and minimal changes in distress among carriers. Lerman and her co-authors hypothesized that the low levels of psychological distress reported may reflect the comprehensive genetics education and counseling provided to those tested.

An important and somewhat surprising finding is that the results of testing have little impact on health behaviors. Lerman et al. concluded that since genetic testing does not appear to promote changes in health-related behaviors such as increased surveillance, there may be less need for psychological counseling of genetic testing participants and greater need for research and practice to facilitate health protective behaviors in response to genetic risk information.

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