Knowledge is a powerful tool that can help any woman deal with a scary health situation. In the study reviewed here, women at high risk for breast cancer who had genetic testing benefited psychologically from knowing the results of the testing.
You and your doctor may consider genetic counseling and genetic testing if you have a higher-than-average risk of breast cancer because of:
Most inherited cases of breast cancer are associated with two abnormal genes: BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2). Women with an abnormal BRCA1 or BRCA2 gene have up to an 85% risk of developing breast cancer by age 70. Their risk of ovarian cancer is also increased. Abnormal BRCA1 and BRCA2 genes are found in 5% to 10% of all breast cancer cases in the United States. Doctors believe that there are likely to be a number of gene abnormalities other than BRCA1 and BRCA2 that eventually will be linked to increased breast cancer risk. Testing for abnormal genes other than BRCA1 and BRCA2 isn't routinely available. Researchers are working hard to identify these other abnormal genes and understand how the information can help make screening even more effective.
This small study looked at 215 women who had genetic testing for abnormal BRCA1 or BRCA2 genes because of family or personal medical history. The researchers asked the women how distressed and worried they were about breast cancer risk, both before the women had genetic testing and during each of the 4 years after the test. The researchers found that after learning their test results and other information relayed during genetic counseling, the women were less distressed and worried about breast cancer risk compared to how they felt before testing and counseling. But after testing, each woman's level of worry about risk depended on her individual results and circumstances.
A recommendation for breast cancer genetic testing may be scary for some women. Still, this research shows that knowing your test results is empowering. No matter the results, all the women in this study were less worried after learning their genetic test results. Genetic testing should be done in collaboration with your doctor and a genetic counselor. Together, these professionals can help you understand your situation, your risks, and the results of your test. They also can help you create a breast cancer screening plan that's best for you and offer guidance on how to keep your breast cancer risk as low as it can be.
Visit the Genetics and Breast Cancer Risk section to learn more about breast cancer genes and testing.
LEIDEN, The Netherlands, Oct. 3 (MedPage Today) -- Inconclusive genetic testing results for breast cancer may be as distressing to women as testing positive for a BRCA mutation even years later, researchers found.
Women's personal beliefs about what an inconclusive result meant was a significant predictor of this level of distress and worry (P<0.05), Sandra van Dijk, Ph.D., of Leiden University Medical Center, and colleagues reported online in Genetics in Medicine.
But regardless of their test results, women in the study reported being less worried than they were before genetic testing.
These findings reinforce the importance of discussing women's beliefs and expectations openly during genetic counseling, particularly when dealing with inconclusive results, the researchers said.
"Not only must women's expectations before BRCA testing be addressed," they said, "but also the issue of how women are planning to come to terms with an inconclusive result."
The researchers assessed psychological adjustment in 215 women who were given DNA testing results for BRCA gene mutations associated with hereditary breast cancer.
The women were followed for a mean of 4.4 years after participating in the prospective Chances and Choices study of risk perception and informed decision-making among at-risk women.
Overall, 37 women tested positive and 31 received a "true negative" result for a BRCA mutation that had previously been detected in their family.
More than two-thirds -- 147 women -- had inconclusive results showing no genetic mutation currently known to increase breast cancer risk.
But these women were told they may still be at increased risk because of unrecognized mutations, or because of other risk factors associated with familial breast cancer.
Receiving a DNA test result was associated with lower levels of worry and cancer-specific distress than at baseline both overall (P<0.0001 and P<0.001, respectively) and for each group.
Breast cancer-related distress -- how intrusive concern about breast cancer was for the women -- was significantly higher for those who got inconclusive or positive results compared with true negative results (16.2 and 13.3 versus 4.0, P<0.05).
Psychological adjustment to the results -- measured by questions on whether the women had put the test behind them or how often they still thought about the results -- was highest among those with a true negative result.
But scores reflected a similar lack of adjustment whether women got inconclusive results or positive ones (23.0 and 22.3 versus 28.5 for true negative, P<0.05).
Time helped relieve cancer-specific distress related to test results (P=0.053) but didn't affect psychological adjustment or worry (P=0.24 and P=0.29, respectively).
Women with higher risk status were less likely to have come to terms with the counseling information (P<0.001) and had higher levels of cancer-specific distress (P=0.045).
About half of the women with inconclusive results were considered to have more than a 30% residual risk of a cancer-causing mutation.
Those who perceived a higher risk of having inherited a BRCA mutation had significantly poorer adjustment scores, worried more about breast cancer, and reported higher distress scores.
About half of the women who had an inconclusive DNA test reported mixed feelings about the results -- they were neither certain that breast cancer was a hereditary problem in their family nor were clear about their personal risk.
These women also reported higher levels of distress and lower levels of adjustment.
Women's beliefs about inconclusive DNA test results were strongly associated with how well they adjusted to the results even after adjustment for their level of distress and worry, personal risk level, and other factors (P<0.0001 for risk perception and ambivalence about the results, P<0.001 for regret at not having had a personal test).
"Cancer-related worries and distress may provide an important but incomplete picture on how women adapt to their inconclusive result," the researchers said.
The study was supported financially by the Dutch Cancer Society.
The researchers reported no conflicts of interest.
Primary source: Genetics in Medicine: Official Journal of the American College of Medical Genetics Source reference: van Dijk S, et al "Putting it all behind: long-term psychological impact of an inconclusive DNA test result for breast cancer" Genet Med 2008.
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