The genes conferring increased susceptibility to breast and ovarian cancer, BRCA1 and BRCA2, were identified in the mid-1990's and commercial testing became available soon thereafter. Intensive evaluation of women undergoing testing for BRCA1/2 germline mutations has been conducted, and has demonstrated that women participating in genetic testing through highly structured and supportive programs conducted largely at academic institutions have generally done well through the process and in the long term (1-5). In the United States, the vast majority of BRCA1/2 testing is now performed by a single commercial clinical laboratory (Myriad Genetics Laboratory (MGL)), with the test available to women directly through their physicians. A substantial portion of testing is now accomplished through this mechanism, but the extent to which clinical testing as it is now performed approximates the intensive support provided in the structured research programs is unknown. The outcomes of women tested clinically outside of academic centers have not yet been studied. In this project, we intend to explore three areas in which data have been lacking, using the unique resource of the unselected population of women tested through MGL. These include: 1) What are the outcomes (knowledge, psychological adjustment, health behaviors, satisfaction, and confidentiality concerns) of women undergoing testing across the spectrum of clinical settings in which testing is earned out? 2) Are specific characteristics of providers (experience, expertise, use of genetic counselors) and of the circumstances in which testing is provided (academic, non-academic, specialty vs. course of clinical practice) associated with more favorable outcomes for women undergoing testing? and 3) What are the factors that distinguish physicians who are ordering BRCA1/2 genetic testing from those who have not utilized this new technology? The project involves surveys of women who have provided specimens to MGL for BRCA1/2 analysis, their providers, and control physicians. The information learned from this project may help to create a standard for the optimal conduct of BRCA 1/2 testing, and potentially for other predisposition testing as well.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project (R01)
Project #
5R01HG002318-03
Application #
6649207
Study Section
Special Emphasis Panel (ZRG1-GNM (01))
Program Officer
Thomson, Elizabeth
Project Start
2001-09-30
Project End
2006-08-31
Budget Start
2003-09-30
Budget End
2006-08-31
Support Year
3
Fiscal Year
2003
Total Cost
$384,750
Indirect Cost
Name
Dana-Farber Cancer Institute
Department
Type
DUNS #
076580745
City
Boston
State
MA
Country
United States
Zip Code
02215
Keating, Nancy L; Stoeckert, Kathryn A; Regan, Meredith M et al. (2008) Physicians'experiences with BRCA1/2 testing in community settings. J Clin Oncol 26:5789-96
Tuzun, Eray; Bailey, Jeffrey A; Eichler, Evan E (2004) Recent segmental duplications in the working draft assembly of the brown Norway rat. Genome Res 14:493-506
Liu, Ge; Zhao, Shaying; Bailey, Jeffrey A et al. (2003) Analysis of primate genomic variation reveals a repeat-driven expansion of the human genome. Genome Res 13:358-68
Bailey, Jeffrey A; Liu, Ge; Eichler, Evan E (2003) An Alu transposition model for the origin and expansion of human segmental duplications. Am J Hum Genet 73:823-34
Bailey, Jeffrey A; Gu, Zhiping; Clark, Royden A et al. (2002) Recent segmental duplications in the human genome. Science 297:1003-7