Understanding Gene Testing
What are the risks of gene testing?
The physical risks of the gene test itself - usually no more than giving a blood sample - are minimal. Any potential risks have more to do with the way the results of the test might change a person's life.
Psychological impact. First, there are the emotions aroused by learning that one is - or is not - likely to develop a serious disease. Many people in disease families have already seen close relatives fall victim to the disorder. The news that they do indeed carry the disease gene can elicit depression, even despair.
Few studies to date have looked directly at the outcome of gene testing for cancer. One study found that, after 3 to 6 weeks, the women identified as gene carriers experienced persistent worries, depression, confusion, and sleep disturbance. Even half of the noncarriers reported that they continued to worry about their risk status.
A gene test confirming the risk of a serious disease can trigger profound psychological consequences.
Family relations. Unlike other medical tests, gene tests reveal information not only about ourselves but about our relatives, and the decision to have a gene test, as well as the test results, can reverberate throughout the family. If a baby tests positive for sickle-cell trait, for example, it follows that one of his or her parents is a carrier. It is also possible for gene tests to inadvertently disclose family secrets involving paternity or adoption.
Emotions elicited by test results can produce a shift in family dynamics. Someone identified as carrying the gene may feel anger, while one who has escaped may be overwhelmed by guilt for avoiding a disease that afflicts a close relative.
Family issues are especially prominent in research programs where genetic linkage tests depend on testing many members of the same family. Some family members may not want to participate in the study or know their genetic risks. People considering gene tests may want to find out how their relatives would feel about knowing whether or not they have a disease gene or allowing the information to be given to others.
Someone who elects to have a gene test needs to consider whether or not to share the test results with other members of the family. Do they want to know? Who should be told - spouse, children, parents, fianc�? Should someone in a high-risk family be tested before she or he marries? What will a positive test mean to one's relationships? If one chooses not to learn the results of the family's gene testing, can such a request be respected? How?
The question and issues raised by gene testing can challenge family and other personal relationships.
Medical choices. Someone who tests positive for a cancer susceptibility gene may opt for preventive or therapeutic measures that have serious long-term implications and are potentially dangerous or of unproven value. In the first family to be tested for a BRCA1 mutation, for instance, some women chose surgery to remove their breasts - and ovaries, too, after childbearing was completed. Other families told the genetic counselor that they were not interested in even discussing surgery.
Finding ways to ensure the confidentiality of gene test results is a major concern.
Privacy. Our genes hold an encyclopedia of information about us and, indirectly, about our relatives. Who should be privy to that information? Will a predisposition for cancer, for instance, remain secret - or could the information slip out? The concern is that test results might someday be used against a person. Some people have been denied health insurance, some have lost jobs or promotions, and some have been turned down for adoptions because of their gene status.
Small research studies have conscientiously established safeguards to keep DNA results under wraps. Assurances of confidentiality may be more difficult to come by when larger numbers of people have access to the results. Clinical test results are normally included in a person's medical records. Even if gene testing information could be kept out of the medical record, a person's need for more frequent medical checkups, for example, could provide a tip-off to susceptibility. Might a genetic flaw constitute a "preexisting condition" that would be excluded from insurance coverage?
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