Ethical issues of genetic testing

SIGNIFICANCE: Using a suite of molecular, biochemical, and medical techniques, it is now possible to identify carriers of a number of genetic diseases and to diagnose some genetic diseases even before they display physical symptoms. In addition, numerous genes that predispose people to particular diseases such as cancer, alcoholism, and heart disease have been identified. These technologies raise important ethical questions about who should be tested, how the results of tests should be used, who should have access to the test results, and what constitutes normality.

The Dilemmas of Genetic Testing

Historically, it was impossible to determine whether a person was a carrier of a genetic disease or whether a fetus was affected by a genetic disease. Now both of these things and much more can be determined through genetic testing. Although there are obvious advantages to acquiring this kind of information, there are also significant potential ethical problems.

For example, if two married people are both found to be carriers of cystic fibrosis, each child born to them will have a 25 percent chance of having the disease. Using this information, they might choose not to have any children—or, if living under an oppressive government desiring to manipulate the genetics of the population, they could be forcibly sterilized. Alternatively, they could choose to have each child tested prenatally and possibly abort any child that tests positive for cystic fibrosis, a decision that might conflict with religious, cultural, or moral views. Ethical dilemmas similar to these are expected to become increasingly common as scientists develop tests for more genetic disorders and perhaps even non-disease traits.

Another dilemma arises in the case of diseases such as Huntington's disease (Huntington's chorea), which is caused by a single dominant gene and is always lethal but which does not generally cause physical symptoms until middle age or later. A parent with such a disease has a 50 percent chance of passing it on to each child. Now that people can be tested, it is possible for a child to know whether he or she has inherited the deadly gene. If a person tests positive for the disease, he or she can then choose to remain childless or opt for prenatal testing.

Tests for deadly, untreatable genetic diseases in offspring have an even darker side. If the test is negative, the person may be greatly relieved; if it is positive, however, doctors can offer no hope. Is it right to let someone know that they will die sometime around middle age or shortly thereafter if there is nothing the medical community can do to help them? The psychological trauma associated with such disclosures can be severe. Additionally, who should receive information about the test, especially if it shows positive for the disease? If the information is kept confidential, a person with the disease could buy large amounts of life insurance, to the financial advantage of beneficiaries, at the same price as an unaffected person. On the other hand, if health and life insurance companies were allowed to know the results of such tests, they might use the information to refuse insurance coverage of any kind. Finally, the accuracy of genetic tests must be considered. There will be occasional false positives and false negatives. With so much at stake, how can doctors and genetic counselors help patients understand the uncertainties?

How Should Genetic Testing Information Be Used?

As technology improves, scientists are able to test for more than just specific, prominent genetic defects. Genetic tests are available for determining potential risks for such things as cancer, alcoholism, Alzheimer's disease, and obesity. A positive result for the alcoholism gene does not mean that a person is doomed to be an alcoholic, but rather that he or she has a genetic tendency toward behavior patterns that lead to alcoholism or other addictions. Knowing this, a person could then seek counseling, as needed, to prevent alcoholism and make lifestyle decisions to help prevent alcohol abuse. This example highlights the importance of regulating access to medical information, however, as if an individual's predisposition to alcoholism were publicly known, it might be used for anything from targeted advertising to outright discrimination.

Unfortunately, a positive test for genes that predispose people to diseases such as cancer may be more ominous. In some cases, people showing a predisposition may be able to largely prevent the eventual development of cancer with aggressive early screening (for example, breast exams and colonoscopies) and lifestyle changes. Some preemptive strategies, however, have come under fire. For example, some women at risk for breast cancer have chosen prophylactic mastectomy. In some cases, cancer still develops after a mastectomy, and some studies have shown lumpectomy and other less radical treatments to be as effective as mastectomy.

As noted, a major concern centers on who should have access to the results of genetic testing. Should employers be allowed to require genetic testing as a screening tool for hiring decisions? Should insurance companies have access to the records when making policy decisions? These are especially disturbing questions considering the fact that many tests only indicate probabilities—a positive result for one of the breast cancer genes, for example, can only predict a significantly higher chance of developing breast cancer than is typical for the general population. Making such testing information available to employers and insurance companies would open the door to discrimination based on the probability rather than the certainty that a prospective employee or client will become a future financial burden. A number of states have banned insurance companies from using genetic testing data for this very reason. The passage of the Genetic Information Nondiscrimination Act of 2008 was an early step aimed at preventing hiring discrimination on genetic grounds.

An important development in genetic testing came with the rise of direct-to-consumer (DTC) genetic testing products in the early twenty-first century. Unlike earlier methods, which were administered in a clinical setting with informed consent and often accompanied by genetic counseling, DTC testing is administered privately and is far less regulated. While this can avoid certain ethical issues because the results are not part of one's official medical record and have no obligation to be disclosed to employers or insurance companies, it also raises other questions. For example, early DTC genetic testing was criticized for overstating its ability to evaluate health risks, leading to action by the US Food and Drug Administration (FDA) against the company 23andMe in 2013. Eventually the FDA did approve certain DTC tests for health-related purposes, but generally the technology was limited to providing an overview of a customer's genetic data. Another ethical issue with DTC genetic testing revolves around the security of the personal data collected by the private companies that carry out this testing. The databases compiled by these companies can be hacked by ill-intentioned third parties for nefarious purposes. Such was the case when 23andMe experienced a significant data breach in October 2023. During the breach, hackers successfully gained access to the profiles of approximately 14,000 23andMe users, as well as the personal information of millions of other people.

Impact and Applications

The long track record and accuracy of some tests, such as the tests for cystic fibrosis and Tay-Sachs disease, has led to the suggestion that they could be used to screen the general population. Although this would seem to provide positive benefits to the population at large, there is a concern about the cost of testing on such a broad scale. Would the costs of testing outweigh the benefits? What other medical needs might not receive funding if such a program were started? The medical community will have to consider the options carefully before more widespread testing takes place.

As more genetic tests become available, it will eventually be possible to develop a fairly comprehensive genetic profile for each person. Such profiles could be stored on portable media and be used by individuals, in consultation with their personal physicians, to make lifestyle decisions that would counteract the effects of some of the defects in their genetic profiles. The information could also be used to determine a couple's genetic compatibility before they get married. When a woman becomes pregnant, a prenatal genetic profile of the fetus could be produced; if it does not match certain minimum standards, the fetus could be aborted. The same genetic profile could potentially be used to shape the child's life and even help determine the child's eventual profession, raising questions of self-determination and freedom. Although such comprehensive testing is now prohibitively expensive, the costs should drop as the tests are perfected and made more widely available.

The potential ability to determine and influence aspects of a person—beyond purely medical concerns—before birth has also given rise to fears of "designer babies," or children genetically modified in the womb to conform to certain ideals. Opposition to this possibility has come in many forms, including religious objections and criticism that only the wealthy would be able to take advantage, thereby further stratifying society. While scientists suggest that the complexity of the human genome means that any such capability remains well in the future, the issue is nevertheless frequently debated.

Meanwhile, access to genetic profiles by employers, insurance companies, advertisers, and law enforcement agencies could result in considerable economic savings to society, allowing many decisions to be made with greater accuracy, but at what other costs? How should the information be used? How should access be limited? How much privacy should individuals have with regard to their own genetic profiles? As genetic testing becomes more and more widespread, these questions will need to be answered more specifically. Ultimately, the relationship between the good of society and the rights of the individual will need to be redefined.

Key Terms

• dominant traita genetically determined trait that is expressed when a person receives the gene for that trait from either or both parents
• recessive traita genetically determined trait that is expressed only if a person receives the gene for the trait from both parents

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