title: Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations.
abstract: BACKGROUND
  Uptake of genetic testing remains low, even in families with known BRCA1 and BRCA2 (BRCA1/2) mutations, despite effective interventions to reduce risk. We report disclosure and uptake patterns by BRCA1/2-positive individuals to at-risk relatives, in the setting of no-cost genetic counseling and testing.
  
  
  METHODS
  Relatives of BRCA1/2-positive individuals were offered cost-free and confidential genetic counseling and testing. If positive for a BRCA1/2 mutation, participants were eligible to complete a survey about their disclosure of mutation status and the subsequent uptake of genetic testing by at-risk family members.
  
  
  RESULTS
  One hundred and fifteen of 142 eligible individuals responded to the survey (81%). Eighty-eight (77%) of those surveyed disclosed results to all at-risk relatives. Disclosure to first-degree relatives (FDRs) was higher than to second-degree relatives (SDRs) and third-degree relatives (TDR) (95% vs. 78%; p < 0.01). Disclosure rates to male versus female relatives were similar, but reported completion of genetic testing was higher among female versus male FDRs (73% vs. 49%; p < 0.01) and SDRs (68% vs. 43%; p < 0.01), and among members of maternal versus paternal lineages (63% vs. 0%; p < 0.01). Men were more likely than women to express general difficulty discussing positive BCRA1/2 results with at-risk family members (90% vs. 70%; p = 0.03), while women reported more emotional distress associated with disclosure than men (48% vs. 13%; p < 0.01).
  
  
  CONCLUSIONS
  We report a very high rate of disclosure of genetic testing information to at-risk relatives. However, uptake of genetic testing among at-risk individuals was low despite cost-free testing services, particularly in men, SDRs, and members of paternal lineages. The complete lack of testing among paternally related at-risk individuals and the lower testing uptake among men signify a significant barrier to testing and a challenge for genetic counselors and physicians working with high-risk groups. Further research is necessary to ensure that family members understand their risk and the potential benefits of genetic counseling.
authors: Division of Hematology/Oncology, Department of Internal Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104-4283, USA.
authors: Esme
authors: E
authors: Finlay
authors: Jill E
authors: JE
authors: Stopfer
authors: Eric
authors: E
authors: Burlingame
authors: Katherine Goldfeder
authors: KG
authors: Evans
authors: Katherine L
authors: KL
authors: Nathanson
authors: Barbara L
authors: BL
authors: Weber
authors: Katrina
authors: K
authors: Armstrong
authors: Timothy R
authors: TR
authors: Rebbeck
authors: Susan M
authors: SM
authors: Domchek
mesh_terms: D000293:Adolescent; D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics / Q000523:psychology; D030881:Disclosure; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling / Q000706:statistics & numerical data; D005820:Genetic Testing / Q000523:psychology / Q000706:statistics & numerical data; D006801:Humans; D008297:Male; D008875:Middle Aged; D009042:Motivation; D009154:Mutation; D010414:Pennsylvania; D011795:Surveys and Questionnaires