PMID- 18373407
OWN - NLM
STAT- MEDLINE
DCOM- 20080612
LR  - 20240319
IS  - 1090-6576 (Print)
IS  - 1557-7473 (Electronic)
IS  - 1090-6576 (Linking)
VI  - 12
IP  - 1
DP  - 2008 Mar
TI  - Factors determining dissemination of results and uptake of genetic testing in 
      families with known BRCA1/2 mutations.
PG  - 81-91
LID - 10.1089/gte.2007.0037 [doi]
AB  - 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). 
      DISCUSSION: 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.
FAU - Finlay, Esme
AU  - Finlay E
AD  - Division of Hematology/Oncology, Department of Internal Medicine, University of 
      Pennsylvania, Philadelphia, Pennsylvania 19104-4283, USA.
FAU - Stopfer, Jill E
AU  - Stopfer JE
FAU - Burlingame, Eric
AU  - Burlingame E
FAU - Evans, Katherine Goldfeder
AU  - Evans KG
FAU - Nathanson, Katherine L
AU  - Nathanson KL
FAU - Weber, Barbara L
AU  - Weber BL
FAU - Armstrong, Katrina
AU  - Armstrong K
FAU - Rebbeck, Timothy R
AU  - Rebbeck TR
FAU - Domchek, Susan M
AU  - Domchek SM
LA  - eng
GR  - R01 CA083855-08/CA/NCI NIH HHS/United States
GR  - R01 CA083855-03/CA/NCI NIH HHS/United States
GR  - R01 CA083855-02/CA/NCI NIH HHS/United States
GR  - R01 CA083855-07/CA/NCI NIH HHS/United States
GR  - R01 CA083855/CA/NCI NIH HHS/United States
GR  - R01 CA083855-01/CA/NCI NIH HHS/United States
GR  - R01 CA083855-04/CA/NCI NIH HHS/United States
GR  - R01 CA102776-04/CA/NCI NIH HHS/United States
GR  - R01 CA102776-03/CA/NCI NIH HHS/United States
GR  - R01 CA102776-01A1/CA/NCI NIH HHS/United States
GR  - R01 CA083855-10/CA/NCI NIH HHS/United States
GR  - R01 CA083855-05/CA/NCI NIH HHS/United States
GR  - R01 CA083855-06/CA/NCI NIH HHS/United States
GR  - R01 CA102776-02/CA/NCI NIH HHS/United States
GR  - R01 CA102776/CA/NCI NIH HHS/United States
GR  - R01 CA083855-11/CA/NCI NIH HHS/United States
GR  - T32 CA009615/CA/NCI NIH HHS/United States
GR  - R01 CA083855-09/CA/NCI NIH HHS/United States
GR  - R01 CA102776-05/CA/NCI NIH HHS/United States
PT  - Journal Article
PL  - United States
TA  - Genet Test
JT  - Genetic testing
JID - 9802546
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Breast Neoplasms/genetics/psychology
MH  - Disclosure
MH  - Female
MH  - *Genes, BRCA1
MH  - *Genes, BRCA2
MH  - *Genetic Counseling/statistics & numerical data
MH  - *Genetic Testing/psychology/statistics & numerical data
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Motivation
MH  - *Mutation
MH  - Pennsylvania
MH  - Surveys and Questionnaires
PMC - PMC3072893
MID - NIHMS280343
EDAT- 2008/04/01 09:00
MHDA- 2008/06/13 09:00
PMCR- 2011/04/08
CRDT- 2008/04/01 09:00
PHST- 2008/04/01 09:00 [pubmed]
PHST- 2008/06/13 09:00 [medline]
PHST- 2008/04/01 09:00 [entrez]
PHST- 2011/04/08 00:00 [pmc-release]
AID - 10.1089/gte.2007.0037 [doi]
PST - ppublish
SO  - Genet Test. 2008 Mar;12(1):81-91. doi: 10.1089/gte.2007.0037.