Genetic Counseling in Women at Risk for BRCA1 or BRCA2 Mutations

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00416754
Recruitment Status : Completed
First Posted : December 28, 2006
Last Update Posted : April 7, 2017
National Cancer Institute (NCI)
Information provided by (Responsible Party):
Georgetown University

Brief Summary:

RATIONALE: Genetic counseling and using an interactive computer program may help women at risk for breast cancer make medical decisions about treatment.

PURPOSE: This randomized clinical trial is studying standard genetic counseling to see how well it works when given together with or without a medical decision-making computer program in women at risk for BRCA1 or BRCA2 mutations.

Condition or disease Intervention/treatment Phase
Breast Cancer Other: counseling intervention Not Applicable

Detailed Description:


  • Evaluate the impact of BRCA1/BRCA2 testing among members of hereditary breast-ovarian cancer families.
  • Evaluate the long-term impact of genetic counseling and testing on psychosocial and behavioral outcomes.
  • Evaluate the relative impact of standard genetic counseling (SGC) versus SGC plus the interactive decision-aid (IDA) on medical decision-making.
  • Evaluate the relative impact of SGC vs SGC + IDA on psychological well-being.
  • Explore the mechanisms by which the SGC + IDA intervention impacts on psychosocial and behavioral outcomes.

OUTLINE: This is a multicenter study.

Eligible women are asked to participate in a baseline telephone interview over 30 minutes and then invited to a genetic counseling session over 1.5-2 hours that includes information about BRCA1/2 testing. Patients are then offered BRCA1/2 testing, and the test results (i.e., mutation carrier vs noncarrier) are presented at a subsequent in-person individual genetic counseling session over 1.5-2 hours. Patients who tested positive for BRCA1 or 2 mutation are randomized to 1 of 2 counseling arms. All other patients proceed to follow up.

  • Arm I (standard genetic counseling): No further counselor-initiated contact is scheduled.
  • Arm II (individualized decision aid): Patients are asked to view an interactive computer program that is designed to help the patients make medical decisions based on their breast cancer risk.

Outcome assessments, including quality of life assessment, are conducted at 2, 6, and 12 months.

PROJECTED ACCRUAL: A total of 950 patients will be accrued for this study.

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 1109 participants
Allocation: Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Screening
Official Title: Improving the Long-Term Outcomes of BRCA1/BRCA2 Mutation Testing
Study Start Date : December 2000
Actual Primary Completion Date : December 2006
Actual Study Completion Date : December 2006

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Intervention Details:
    Other: counseling intervention
    subjects will receive genetic counseling

Primary Outcome Measures :
  1. patient satisfaction [ Time Frame: 1 year ]
    subjects will complete questionnaires re; genetic counseling experience

Information from the National Library of Medicine

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Ages Eligible for Study:   25 Years to 75 Years   (Adult, Senior)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No


  • Members of hereditary breast/ovarian cancer families (in which there is at least a 10-20% prior probability of a BRCA1/2 mutation) OR who have a first-degree relative with a known BRCA1 or BRCA2 mutation
  • Prior diagnosis of breast cancer allowed

    • Must not be undergoing active treatment
    • Patients with prior bilateral mastectomy are eligible for study but not eligible for randomization


  • Female only
  • No psychiatric or cognitive disorder that would preclude giving informed consent


  • See Disease Characteristics

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00416754

Sponsors and Collaborators
Georgetown University
National Cancer Institute (NCI)
Principal Investigator: Marc Schwartz, PhD Lombardi Comprehensive Cancer Center

Responsible Party: Georgetown University Identifier: NCT00416754     History of Changes
Other Study ID Numbers: CDR0000450754
R01CA082346 ( U.S. NIH Grant/Contract )
P30CA051008 ( U.S. NIH Grant/Contract )
First Posted: December 28, 2006    Key Record Dates
Last Update Posted: April 7, 2017
Last Verified: February 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by Georgetown University:
breast cancer
stage I breast cancer
stage II breast cancer
stage IIIA breast cancer
stage IIIB breast cancer
stage IIIC breast cancer
stage IV breast cancer

Additional relevant MeSH terms:
Breast Neoplasms
Neoplasms by Site
Breast Diseases
Skin Diseases