Genetics and Health - Ethical Considerations And Genetic Testing

Rapid advances in genetic research during the past two decades 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. 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. (The Human Genome Project was a thirteen-year study completed in 2003 conducted by the U.S. Department of Energy and the National Institutes of Health [NIH] that set out to, among other things, identify all of the genes in human DNA.) To date, consideration of these ethical 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 are intended to inform, educate, and assist persons in every walk of life to 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 ever-increasing 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 at-risk families would welcome a test to determine in advance who would develop or escape a disease. They would be able to plan more realistically about having children, choosing jobs, obtaining insurance, and living their 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 persons 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? Serving as an example of this issue's complexity, 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 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 leading to possible stigmatization. Some people are reluctant to be tested because they fear they may lose their health, life, and disability insurance, 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 if they learn the results of genetic testing is often justified. An insurance carrier may charge someone 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.