U.S. Preventive Services Task Force
Release Date: September 2005
Summary of Recommendations / Supporting Documents
Summary of Recommendations
- The U.S. Preventive Services Task Force (USPSTF)
recommends against routine referral for genetic counseling
or routine breast cancer susceptibility gene (BRCA)
testing for women whose family history is not associated
with an increased risk for deleterious mutations in breast
cancer susceptibility gene 1 (BRCA1) or breast cancer
susceptibility gene 2 (BRCA2).
Rating: "D" recommendation.
Rationale: The USPSTF found fair evidence that women without
certain specific family history patterns, termed here "increased risk
family history" (go to Clinical Considerations for a definition), have a low risk for developing breast or ovarian cancer
associated with BRCA1 or BRCA2 mutations. Thus, any
benefit to routine screening of these women for BRCA1 or
BRCA2 mutations, or routine referral for genetic counseling,
would be small or zero.
The USPSTF found fair evidence regarding important
adverse ethical, legal, and social consequences that could result
from routine referral and testing of these women. Interventions
such as prophylactic surgery, chemoprevention, or intensive
screening have known harms. The USPSTF estimated that the
magnitude of these potential harms is small or greater.
The USPSTF concluded that the potential harms of routine
referral for genetic counseling or BRCA testing in these
women outweigh the benefits.
- The USPSTF recommends that women whose family
history is associated with an increased risk for deleterious
mutations in BRCA1 or BRCA2 genes be referred
for genetic counseling and evaluation for BRCA testing.
Rating: "B" recommendation.
Rationale: The USPSTF found fair evidence that women with certain
specific family history patterns (increased-risk family history)
have an increased risk for developing breast or ovarian
cancer associated with BRCA1 or BRCA2 mutations. The
USPSTF determined that these women would benefit from
genetic counseling that allows informed decision making about
testing and further prophylactic treatment. This counseling
should be done by suitably trained health care providers. There
is insufficient evidence to determine the benefits of chemoprevention
or intensive screening in improving health outcomes in
these women if they test positive for deleterious BRCA1 or
BRCA2 mutations. However, there is fair evidence that prophylactic
surgery for these women significantly decreases breast
and ovarian cancer incidence. Thus, the potential benefits of
referral and discussion of testing and prophylactic treatment
for these women may be substantial.
The USPSTF also found insufficient evidence regarding
important adverse ethical, legal, and social consequences that
could result from referral and testing of high-risk women. Prophylactic surgery is associated with known harms. The USPSTF estimated that the magnitude of these potential
harms is small. The USPSTF concluded that the benefits of referring
women with an increased-risk family history to suitably
trained health care providers outweigh the harms.
Supporting Documents
Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility, September 2005
Recommendation Statement (PDF File, 220 KB; PDF Help)
Evidence Review (PDF File, 885 KB; PDF Help)
Evidence Synthesis (PDF File, 3.6 MB; PDF Help)
Top of Page
Current as of September 2005
Internet Citation:
Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility, Topic Page. September 2005. U.S. Preventive Services Task Force. Agency for Healthcare Research and Quality, Rockville, MD. http://www.ahrq.gov/clinic/uspstf/uspsbrgen.htm