Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2011 Nov 10;29(32):4302-6.
doi: 10.1200/JCO.2010.33.1561. Epub 2011 Oct 11.

Long-term reactions to genetic testing for BRCA1 and BRCA2 mutations: does time heal women's concerns?

Chanita Hughes Halbert  1 , Jill E Stopfer, Jasmine McDonald, Benita Weathers, Aliya Collier, Andrea B Troxel, Susan Domchek
Affiliations

Long-term reactions to genetic testing for BRCA1 and BRCA2 mutations: does time heal women's concerns?

Chanita Hughes Halbert et al. J Clin Oncol. .

Abstract

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.

PubMed Disclaimer

Conflict of interest statement

Authors' disclosures of potential conflicts of interest and author contributions are found at the end of this article.

References

    1. Croyle RT, Smith KR, Botkin JR, et al. Psychological responses to BRCA1 mutation testing: Preliminary findings. Health Psychol. 1997;16:63–72. - PubMed
    1. Schwartz MD, Peshkin BN, Hughes C, et al. Impact of BRCA1/BRCA2 mutation testing on psychological distress in a clinic-based sample. J Clin Oncol. 2002;20:514–520. - PubMed
    1. Cella D, Hughes C, Peterman A, et al. A brief assessment of concerns associated with genetic testing for cancer: The Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire. Health Psychol. 2002;21:564–572. - PubMed
    1. Botkin JR, Smith KR, Croyle RT, et al. Genetic testing for a BRCA1 mutation: Prophylactic surgery and screening behavior in women 2 years post testing. Am J Med Genet A. 2003;118A:201–209. - PubMed
    1. Bradbury AR, Ibe CN, Dignam JJ, et al. Uptake and timing of bilateral prophylactic salpingo-oophorectomy among BRCA1 and BRCA2 mutation carriers. Genet Med. 2008;10:161–166. - PMC - PubMed

Publication types