title: Long-term reactions to genetic testing for BRCA1 and BRCA2 mutations: does time heal women's concerns?
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors: University of Pennsylvania, 3535 Market St, Ste 4100, Philadelphia, PA 19104, USA. Chanita@mail.med.upenn.edu
authors: Chanita Hughes
authors: CH
authors: Halbert
authors: Jill E
authors: JE
authors: Stopfer
authors: Jasmine
authors: J
authors: McDonald
authors: Benita
authors: B
authors: Weathers
authors: Aliya
authors: A
authors: Collier
authors: Andrea B
authors: AB
authors: Troxel
authors: Susan
authors: S
authors: Domchek
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D012044:Regression Analysis