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Medline ® Abstract for Reference 7

of 'Genetic counseling and testing for hereditary breast and ovarian cancer'

7
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Long-term reactions to genetic testing for BRCA1 and BRCA2 mutations: does time heal women's concerns?
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Halbert CH, Stopfer JE, McDonald J, Weathers B, Collier A, Troxel AB, Domchek S
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J Clin Oncol. 2011 Nov;29(32):4302-6. Epub 2011 Oct 11.
 
PURPOSE: Short-term reactions to BRCA1 and BRCA2 (BRCA1/2) genetic test results have been described in several reports, but the long-terms effects of testing have not been examined extensively.
METHODS: We conducted an observational study to characterize the long-term impact of genetic testing for BRCA1/2 mutations in 167 women who had received genetic test results at least 4 years ago. We also evaluated the relationship between genetic testing-specific reactions and breast and ovarian cancer screening to determine the behavioral significance of adverse reactions.
RESULTS: Seventy-four percent of women were not experiencing any distress regarding their test result, 41% were not experiencing any uncertainty, and 51% had a score for positive experiences that was suggestive of low levels of adverse reactions in terms of family support and communication. Mutation carriers (odds ratio, 3.96; 95% CI, 1.44 to 10.89; P = .01) were most likely to experience distress. Only less time since disclosure was related significantly to experiencing uncertainty (odds ratio,0.62; 95% CI, 0.44 to 0.88; P = .008). In terms of cancer screening, 81% of women had a mammogram during the year before study enrollment, 25% had magnetic resonance imaging (MRI), 20% had a transvaginal ultrasound, and 20% had a CA-125. Experiencing distress was associated significantly with having a CA-125 (χ(2) = 3.89, P = .05), and uncertainty was associated with having an MRI (χ(2) = 8.90, P = .003).
CONCLUSION: Our findings show that women are not likely to experience genetic testing concerns several years after receiving BRCA1/2 test results; distress and uncertainty are not likely to have adverse effects on screening among women at risk for hereditary disease.
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University of Pennsylvania, 3535 Market St, Ste 4100, Philadelphia, PA 19104, USA. Chanita@mail.med.upenn.edu
PMID