May 16, 2002 Access past issues

Reviewed by: Kenyatta W. Stephens Emory University School of Public Health

The Health Outcome  

The most common form of cancer among women in the United States in 2001 was breast cancer.  An estimated 192,200 new cases of invasive breast cancer were diagnosed. Three to five percent of these breast cancer cases were associated with mutations within the BRCA1 or BRCA2 genes. Breast cancer remains the second leading cause of cancer-related death among women. In one study conducted by Maltoff et al. (1), more than half of the women who had a 50 percent increase of carrying these mutations said they would choose to be tested for them. Both risks and benefits are associated with being tested. The current study measures the psychological distress associated with testing participants who received negative, uninformative, or positive test results (2-3). Distress did not increase among participants who received positive or uninformative test results.  Nor did they exhibit the substantial decreases in distress reported among relatives who received negative test results.  Six months after testing, participants who received positive or uninformative results reported higher levels of distress than participants who received negative test results. Although the clinical significance of such modestly elevated distress is unclear, women who receive positive or uninformative test results probably could benefit from continued support.

The Finding  

This particular study is a cohort study.  Participants were 279 women aged 18 years or older who were self-referred to the program and participated during 1995 thorugh 1999. To be eligible for inclusion into the study, women had to have a personal history of breast or ovarian cancer and a family history of these cancers that resulted in roughly a 10 percent or higher prior probability of harboring a mutation in BRCA1 or BRCA2.  Most participants were white, aged 45 years and older, married, employed, and college-educated, and had annual family incomes greater than $75,000. Of the 186 eligible women, 23 percent (n=43) received positive BRCA1/BRCA2 test results (77 percent received uninformative results). Among the 93 eligible relatives, 38 percent (n=35) received positive BRCA1/BRCA2 test results (62 percent received definitive negative results. There was no effect of test result among affected women. Among unaffected relatives, participants who received definitive negative test results exhibited significant reductions in perceived risk and distress compared with participants who received positive test results. Relatives who received positive test results did not exhibit increased distress or perceived risk. The results suggest that clinic-based BRCA1/BRCA2 testing can lead to psychological benefits for women who receive negative test results. At 6 months after disclosing test results, women who receive positive or uninformative test results did not exhibit increased psychological distress or perceived risk.

Public Health Implications  

No significant impact in public health resulted from the findings of the study. The study’s cohort was not representative of a diverse sampling of the Washington DC population.  The study does not provide evidence for adverse psychologic effects among women participating in clinic-based BRCA1/BRCA2 testing programs. The differential dropout may have biased the results of this study.  Compared with participants who received positive test results, participants who received uninformative or definitive negative test results were more likely to be lost to follow-up.  If participants who were lost to follow-up were less distressed than were those who completed follow-up, the present study may underestimate the distress reductions associated with the receipt of negative or uninformative test results.  Also, testing should be done in more ethnically diverse populations and other primary-care settings. Settings that fail to provide extensive pretest and post-test genetic counseling may not yield such favorable results. Future research should focus on why knowledge of risk status does not motivate the participants to introduce prevention methods and have frequent screenings. Until prevention therapies are proven to be effective in mutation carriers, only changes in behavior will aid in reducing morbidity and mortality from hereditary breast cancer.

References

1. Matloff ET, Shappell H, Brierley K, et al. What would you do? Specialists’ perspectives on cancer genetic testing, prophylactic surgery, and insurance discrimination. J Clin Oncol 2000;18:2484-92.
2. Schwartz MD, Peshkin BN, Hughes C, et al. Impact of BRCA1/BRCA2 Mutation Testing on Psychologic Distress in a Clinic-Based Sample. J Clin Oncol 2002;20:514-20.
3. E-Journal Club abstraction template