Emotional Challenges with Genetic Risk
A new study highlights the emotional challenges faced by women who test positive for the BRCA1 and BRCA2 genes. Mutations in these genes have been associated with a significantly higher risk for breast and ovarian cancer.
Researchers in the Netherlands, led by Dr. Litanja Lodder of Erasmus University in Rotterdam, interviewed 78 women considered at high risk for inheriting these genetic mutations. After taking blood samples and testing for the genes, they found that 25 of the women were actual carriers.
They measured their "level of distress" before and after the test using two standard psychological gauges-the Hospital Anxiety and Depression Scale to assess general distress; and the Impact of Event Scale to monitor overwhelming thoughts and feelings.
Writing in the American Journal of Medical Genetics, they noted that women who entered the testing with higher anxiety levels were understandably among those most "distressed" upon hearing that they were BRCA1 or BRCA2 carriers.
Interesting, though, the researchers found even higher distress levels in the women's partners. While 20 percent of mutation carriers reported high post-test anxiety, 35 percent of their partners reported similarly high distress levels.
Interestingly, the researchers found that a number of factors were not related to high distress levels when a genetic marker was found. These included: a woman's awareness of the hereditary nature of her disease; her previous involvement in genetic research; experience with cancer in her relatives; or being the mother of young children.
Unfortunately, the study did not delve into the psychological counseling needs of the women after they received their test results. Lodder's team suggested that many of their participants felt that the study's post-test interview fulfilled their need for psychological support.
But other research has shown that most women who are found to carry these high-risk genes are not as fortunate.
Even if a woman has a family history of breast cancer, or is associated with a higher-risk ethnic population, the value of genetic testing remains highly controversial.
With respect to breast cancer, it is important to note that BRCA1 and BRCA2 gene mutations are only associated with hereditary forms of the disease-and only about 5 percent of all breast cancers are inherited. The remaining 95 percent are non-hereditary or of unknown cause.
Both men and women can inherit and pass on defective BRCA genes. Families in which breast cancer is inherited typically demonstrate the following characteristics:
However, breast cancer is common enough that random, non-inherited breast tumors may appear in more than one member of a single family. But that still does not mean family members have inherited an abnormal breast cancer gene, especially if the disease occurs late in life.
Studies show that when women are asked what they would do in the hypothetical situation of learning that they express high-risk breast cancer genes, the overwhelming majority say they would decline the most radical approach-prophylactic mastectomy (removal of both breasts with no sign of cancer). Instead they would opt for increased screening and surveillance.
And not only would a positive genetic test be of concern to the individual, but it would also have implications for other family members. Should sisters be tested? How will they cope? Should daughters be tested? And at what age?
Experts almost universally agree on the importance of genetic counseling once a genetic marker for cancer has been identified. There are often many complex psychosocial and economic issues that a patient must suddenly address. And the resultant emotional burden could become overwhelming. Therefore, professional counseling and support might be invaluable.
Furthermore, a study by Dr. David Spiegel and colleagues of the Stanford University School of Medicine in Palo Alto, California, suggested that psychotherapy should be included as an important component of all cancer care.
Presenting his findings at a meeting of the American Society for Therapeutic Radiology and Oncology, Spiegel's team found that breast cancer patients who underwent group therapy reported lower levels of pain and emotional distress than women who did not undergo such a program.
The therapy focused on helping patients express emotions, improve communication with doctors and family members, minimize pain through meditation and self-hypnosis, and build bonds with other cancer patients. They found that patients who tend to suppress their emotions are significantly more likely to suffer from depression and to report a greater degree of mood disturbance. With such patients, group therapy could be a beneficial component of the overall treatment program, they suggested.
SOURCES:
American Journal of Medical Genetics, January 2001; 98:15-24
American Society for Therapeutic Radiology and Oncology (http://www.astro.org)
National Cancer Institute (http://www.nci.nih.org)
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