Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement FREE ONLINE FIRST
Description: Update
of the 2005 U.S. Preventive Services Task Force (USPSTF) recommendation
on genetic risk assessment and BRCA mutation testing for breast and
ovarian cancer susceptibility.
Methods: The USPSTF reviewed the evidence on risk assessment, genetic counseling, and genetic testing for potentially harmful BRCA mutations in asymptomatic women with a family history of breast or ovarian cancer but no personal history of cancer or known potentially harmful BRCA mutations in their family. The USPSTF also reviewed interventions aimed at reducing the risk for BRCA-related cancer in women with potentially harmful BRCA mutations, including intensive cancer screening, medications, and risk-reducing surgery.
Population: This recommendation applies to asymptomatic women who have not been diagnosed with BRCA-related cancer.
Recommendation: The USPSTF recommends that primary care providers screen women who have family members with breast, ovarian, tubal, or peritoneal cancer with 1 of several screening tools designed to identify a family history that may be associated with an increased risk for potentially harmful mutations in breast cancer susceptibility genes (BRCA1 or BRCA2). Women with positive screening results should receive genetic counseling and, if indicated after counseling, BRCA testing. (B recommendation)
The USPSTF recommends against routine genetic counseling or BRCA testing for women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes. (D recommendation)
Methods: The USPSTF reviewed the evidence on risk assessment, genetic counseling, and genetic testing for potentially harmful BRCA mutations in asymptomatic women with a family history of breast or ovarian cancer but no personal history of cancer or known potentially harmful BRCA mutations in their family. The USPSTF also reviewed interventions aimed at reducing the risk for BRCA-related cancer in women with potentially harmful BRCA mutations, including intensive cancer screening, medications, and risk-reducing surgery.
Population: This recommendation applies to asymptomatic women who have not been diagnosed with BRCA-related cancer.
Recommendation: The USPSTF recommends that primary care providers screen women who have family members with breast, ovarian, tubal, or peritoneal cancer with 1 of several screening tools designed to identify a family history that may be associated with an increased risk for potentially harmful mutations in breast cancer susceptibility genes (BRCA1 or BRCA2). Women with positive screening results should receive genetic counseling and, if indicated after counseling, BRCA testing. (B recommendation)
The USPSTF recommends against routine genetic counseling or BRCA testing for women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes. (D recommendation)
The
U.S. Preventive Services Task Force (USPSTF) makes recommendations
about the effectiveness of specific preventive care services for
patients without related signs or symptoms.
It
bases its recommendations on the evidence of both the benefits and
harms of the service and an assessment of the balance. The USPSTF does
not consider the costs of providing a service in this assessment.
The
USPSTF recognizes that clinical decisions involve more considerations
than evidence alone. Clinicians should understand the evidence but
individualize decision making to the specific patient or situation.
Similarly, the USPSTF notes that policy and coverage decisions involve
considerations in addition to the evidence of clinical benefits and
harms.
The
USPSTF recommends that primary care providers screen women who have
family members with breast, ovarian, tubal, or peritoneal cancer with 1
of several screening tools designed to identify a family history that
may be associated with an increased risk for potentially harmful
mutations in breast cancer susceptibility genes (BRCA1 or BRCA2).
Women with positive screening results should receive genetic counseling
and, if indicated after counseling, BRCA testing. (B recommendation)
The
USPSTF recommends against routine genetic counseling or BRCA testing
for women whose family history is not associated with an increased risk
for potentially harmful mutations in the BRCA1 or BRCA2 genes. (D recommendation)
See the Figure for a summary of the recommendation and suggestions for clinical practice.
Appendix Table 1 describes the USPSTF grades, and Appendix Table 2 describes the USPSTF classification of levels of certainty about net benefit.
The
cancer types related to potentially harmful mutations of the BRCA genes
are predominantly breast, ovarian, and fallopian tube cancer, although
other types are also associated (1).
In the general population, 12.3% of women will develop breast cancer
during their lifetime and 2.74% will die of the disease, whereas 1.4% of
women will develop ovarian cancer and 1.0% will die of the disease (2).
A woman's risk for breast cancer increases to 45% to 65% by age 70
years if there are clinically significant mutations in either BRCA gene (3–4). Mutations in the BRCA1 gene increase ovarian cancer risk to 39% by age 70 years, and BRCA2 mutations increase ovarian cancer risk to 10% to 17% by age 70 years (3–4). In the general population, these mutations occur in an estimated 1 in 300 to 500 women (0.2% to 0.3%) (5–8). In a meta-analysis conducted for the USPSTF, the combined prevalence of BRCA1 and BRCA2 mutations was 2.1% in a general population of Ashkenazi Jewish women (9).
Genetic
risk assessment and BRCA mutation testing is generally a multistep
process involving identification of individuals who may be at increased
risk for potentially harmful mutations, followed by genetic counseling
from suitably trained health care providers and genetic testing of
selected high-risk individuals when indicated. Several familial risk
stratification tools are clinically useful for selecting patients who
should be offered genetic counseling to further determine their
candidacy for possible BRCA mutation testing.
For women whose family history is associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes, adequate evidence suggests that the benefits of testing for potentially harmful BRCA mutations are moderate.
For women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes, there is adequate evidence that the benefits of testing for potentially harmful BRCA mutations are few to none.
Adequate
evidence suggests that the overall harms of detection of and early
intervention for potentially harmful BRCA mutations are small to
moderate.
For women whose family history is associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2
genes, there is moderate certainty that the net benefit of testing for
potentially harmful BRCA mutations and early intervention is moderate.
For women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2
genes, there is moderate certainty that the net benefit of testing for
potentially harmful BRCA mutations and early intervention ranges from
minimal to potentially harmful.
This recommendation applies to asymptomatic women who have not been diagnosed with BRCA-related cancer.
Women who have 1 or more family members with a known potentially harmful mutation in the BRCA1 or BRCA2 genes should be offered genetic counseling and testing.
The
USPSTF recognizes the potential importance of further evaluating women
who have a diagnosis of breast or ovarian cancer. Some women receive
genetic testing as part of a cancer evaluation at the time of diagnosis
of breast cancer. The USPSTF did not review the appropriate use of BRCA
testing in the evaluation of women who are newly diagnosed with breast
cancer. That assessment is part of disease management and is beyond the
scope of this recommendation. Women who have been diagnosed with breast
cancer in the past and who did not receive BRCA testing as part of their
cancer care but have a family history of breast or ovarian cancer
should be encouraged to discuss further evaluation with their clinician.
These recommendations do not apply to men, although male family members may be identified for testing during evaluation.
Mutations
in the BRCA genes cluster in families, exhibiting an autosomal dominant
pattern of transmission in maternal or paternal lineage. During
standard elicitation of family history information from patients,
primary care providers should ask about specific types of cancer,
primary cancer sites, which family members were affected, relatives with
multiple types of primary cancer, and the age at diagnosis and sex of
affected family members.
For
women who have at least 1 family member with breast, ovarian, or other
types of BRCA-related cancer, primary care providers may use 1 of
several brief familial risk stratification tools to determine the need
for in-depth genetic counseling.
Although
several risk tools are available, the tools evaluated by the USPSTF
include the Ontario Family History Assessment Tool (Table 1), Manchester Scoring System (Table 2), Referral Screening Tool (Table 3), Pedigree Assessment Tool (Table 4), and FHS-7 (Table 5) (10–19). The Referral Screening Tool (available at www.breastcancergenescreen.org)
and FHS-7 are the simplest and quickest to administer. All of these
tools seem to be clinically useful predictors of which women should be
referred for genetic counseling due to increased risk for potentially
harmful BRCA mutations (most sensitivity estimates were >85%),
although some models have been evaluated in only 1 study (9, 20).
To determine which patients would benefit from BRCA risk assessment,
primary care providers should not use general breast cancer risk
assessment models (for example, the National Cancer Institute Breast
Cancer Risk Assessment Tool, which is based on the Gail model) because
they are not designed to determine which women should receive genetic
counseling or BRCA testing.
In
general, these tools elicit information about factors that are
associated with increased likelihood of BRCA mutations. Family history
factors associated with increased likelihood of potentially harmful BRCA
mutations include breast cancer diagnosis before age 50 years,
bilateral breast cancer, presence of breast and ovarian cancer, presence
of breast cancer in 1 or more male family members, multiple cases of
breast cancer in the family, 1 or more family members with 2 primary
types of BRCA-related cancer, and Ashkenazi Jewish ethnicity. The USPSTF
recognizes that each risk assessment tool has limitations and found
insufficient comparative evidence to recommend one tool over another.
The USPSTF also found insufficient evidence to support a specific risk
threshold for referral for testing.
Genetic
counseling about BRCA mutation testing may be done by trained health
professionals, including trained primary care providers. Several
professional organizations describe the skills and training necessary to
provide comprehensive genetic counseling. The process of genetic
counseling includes detailed kindred analysis and risk assessment for
potentially harmful BRCA mutations; education about the possible results
of testing and their implications; identification of affected family
members who may be preferred candidates for testing; outlining options
for screening, risk-reducing medications, or surgery for eligible
patients; and follow-up counseling for interpretation of test results.
Adequate
evidence suggests that current genetic sequencing tests can accurately
detect BRCA mutations. Testing for BRCA mutations should be done only
when an individual has personal or family history that suggests an
inherited cancer susceptibility, when an individual has access to a
health professional who is trained to provide genetic counseling and
interpret test results, and when test results will aid in decision
making. Initial testing of a family member who has breast or ovarian
cancer is the preferred strategy in most cases, but it is reasonable to
test if no affected relative is available. It is essential that before
testing, the individual is fully informed about the implications of
testing and has expressed a desire for it.
The
type of mutation analysis required depends on family history.
Individuals from families with known mutations or from ethnic groups in
which certain mutations are more common (for example, Ashkenazi Jewish
women) can be tested for these specific mutations.
Individuals
without linkages to families or groups with known mutations receive
more comprehensive testing. In these cases, when possible, testing
should begin with a relative who has breast or ovarian cancer to
determine whether affected family members have a clinically significant
mutation.
Tests
for BRCA mutations are highly sensitive and specific for known
mutations, but interpretation of results is complex and generally
requires posttest counseling. Test results for genetic mutations are
reported as positive (that is, potentially harmful mutation detected),
variants of uncertain clinical significance, uninformative-negative, or
true-negative. Women who have relatives with known BRCA mutations can be
reassured about their inherited risk for a potentially harmful mutation
if the results are negative (that is, a true negative). Some studies
suggest increased breast cancer risk in some women with true-negative
results (21–24).
However, a comprehensive meta-analysis conducted for the USPSTF that
included these studies found that breast cancer risk is generally not
increased in women with true-negative results (9).
An uninformative-negative result occurs when a woman's test does not
detect a potentially harmful mutation but no relatives have been tested
or no mutations have been detected in tested relatives. Available tests
may not be able to identify mutations in these families. Risk for breast
cancer is increased in women with uninformative-negative results (9).
Consideration
of screening for potentially harmful BRCA mutations should begin once
women have reached the age of consent (18 years). Primary care providers
should periodically assess all patients for changes in family history
(for example, comprehensive review at least every 5 to 10 years [25]).
Interventions
that may reduce risk for cancer or cancer-related death in women who
are BRCA mutation carriers include earlier, more frequent, or intensive
cancer screening; risk-reducing medications (for example, tamoxifen or
raloxifene); and risk-reducing surgery (for example, mastectomy or
salpingo-oophorectomy). However, the strength of evidence varies across
the types of interventions.
Evidence
is lacking on the effect of intensive screening for BRCA-related cancer
on clinical outcomes in women who are BRCA mutation carriers.
Medications, such as tamoxifen and raloxifene, have been shown to reduce
the incidence of invasive breast cancer in high-risk women in the
general population, but they have not been studied specifically in women
who are BRCA mutation carriers (9, 20, 26).
In
high-risk women and those who are BRCA mutation carriers, cohort
studies of risk-reducing surgery (mastectomy and salpingo-oophorectomy)
showed substantially reduced risk for breast or ovarian cancer. Breast
cancer risk was reduced by 85% to 100% with mastectomy (27–29)
and by 37% to 100% with oophorectomy, and ovarian cancer risk was
reduced by 69% to 100% with oophorectomy or salpingo-oophorectomy (26).
Salpingo-oophorectomy was also associated with a 55% relative reduction
in all-cause mortality (as measured during the course of the study) in
women with BRCA1 or BRCA2 mutations and without a history of breast cancer (27).
The USPSTF recommendations on medications for breast cancer risk reduction are available on the USPSTF Web site (www.uspreventiveservicestaskforce.org).
The
USPSTF recommends against screening for ovarian cancer in women. This
recommendation does not apply to women with known genetic mutations that
increase their risk for ovarian cancer (for example, BRCA mutations).
The
National Cancer Institute Cancer Genetics Services Directory provides a
list of professionals who offer services related to cancer genetics,
including cancer risk assessment, genetic counseling, and genetic
susceptibility testing (available at www.cancer.gov/search/geneticsservices).
Although
some studies have reported that women prefer in-person genetic
counseling, telephone- or computer-based counseling may be considered
for women who would not otherwise have access to these services.
Research
on risk assessment and testing for BRCA mutations has focused on
short-term outcomes for highly selected women in referral centers.
Additional studies are needed, including comparative effectiveness
trials of approaches to risk screening and strategies to improve access
to genetic counseling and BRCA testing for high-risk individuals.
Another
unresolved question is what specific training is needed (for persons
other than trained genetic counselors) to provide genetic counseling. It
would be helpful to understand which methods of delivery of genetic
counseling are most effective, including those that can increase access
to genetic counseling in rural or other settings. Trials comparing types
of providers and protocols could address these questions.
What
happens after patients are identified as high-risk in clinical settings
is unknown. The consequences of genetic testing for individuals and
their relatives require more study. Well-designed investigations using
standardized measures and diverse study populations are needed.
An
expanded database or registry of patients receiving genetic counseling
for inherited breast and ovarian cancer susceptibility or who are tested
for BRCA mutations would provide useful information about predictors of
cancer and response to interventions. Additional data are needed from
women of varying socioeconomic, racial, and ethnic groups.
For
women who are mutation carriers, studies about the effectiveness of
intensive cancer screening and risk-reducing medications and the effects
of age at intervention on improving long-term outcomes are needed. This
research would increase knowledge of the relative benefits and harms of
interventions that are provided on the basis of genetic risk
information.
Breast cancer is the second most common cancer in women in the United States and is the second leading cause of cancer death (30–31).
In 2013, an estimated 232 340 women in the United States will be
diagnosed with breast cancer and 39 620 women will die of the disease (32).
According to lifetime risk estimates for the general population, 12.3%
of women will develop breast cancer during their lives and 2.74% will
die of it (2).
Ovarian cancer is the fifth leading cause of cancer death in women in the United States (31), accounting for an estimated 22 240 new cases and 14 030 deaths in 2013 (33).
According to lifetime risk estimates for the general population, 1.4%
of women will develop ovarian cancer during their lives and 1.0% will
die of it (2).
Estimates
of the prevalence of potentially harmful BRCA mutations vary by
population. The estimated prevalence is 0.2% to 0.3% in the general
population of women (5–8), 6.0% in women with cancer onset before age 40 years (8, 34–35), and 2.1% in the general population of Ashkenazi Jewish women (36–39). In a meta-analysis of studies in which recruitment was based on family history of breast or ovarian cancer, BRCA1 mutation prevalence was 13.6%, BRCA2 mutation prevalence was 7.9%, and prevalence of either mutation was 19.8% (9).
This
recommendation applies to women who have no signs or symptoms of
BRCA-related cancer. For its updated evidence review, the USPSTF
considered risk assessment, genetic counseling, and genetic testing for
potentially harmful BRCA1 or BRCA2 mutations in
asymptomatic women with a family history of breast or ovarian cancer but
no personal history of cancer or known potentially harmful BRCA
mutations in their family. The USPSTF also reviewed interventions aimed
at reducing the risk for BRCA-related cancer in women with potentially
harmful BRCA mutations, including intensive cancer screening (for
example, earlier and more frequent mammography or magnetic resonance
imaging of the breast), medications (for example, tamoxifen or
raloxifene), and risk-reducing surgery (for example, mastectomy or
oophorectomy). Studies about patients with current or past breast or
ovarian cancer were excluded unless they were designed to address
screening issues in women without cancer (for example, retrospective or
case–control studies).
The
USPSTF reviewed several tools that could be used in primary care
settings to predict individual risk for breast cancer and potentially
harmful BRCA mutations.
Tools
specifically designed to determine risk for BRCA-related cancer are
primarily intended for use by nongeneticist health care providers to
guide referral to genetic counselors for more definitive evaluation.
Models that have been validated in studies include the Ontario Family
History Assessment Tool (Table 1), Manchester Scoring System (Table 2), Referral Screening Tool (Table 3), Pedigree Assessment Tool (Table 4), and FHS-7 (Table 5) (10–19).
In general, these tools elicit information about factors associated
with increased likelihood of BRCA mutations. They are clinically useful
predictors of which women should be referred for genetic counseling
because of increased risk for potentially harmful BRCA mutations (most
sensitivity estimates were >85%), although some models have been
evaluated in only 1 study (9, 20).
The USPSTF recognizes that each risk assessment tool has limitations
and found insufficient evidence to recommend one tool over another.
The
type of mutation analysis done depends on family history. Individuals
from families with known mutations or from ethnic groups with common
mutations (for example, Ashkenazi Jewish women) can be tested
specifically for these mutations. The sensitivity and specificity of
analysis techniques are measured by individual clinical laboratories and
are not publicly available. Individuals without linkages to families or
groups with known mutations receive more comprehensive testing. In
these cases, guidelines recommend initial testing of a relative with
known breast or ovarian cancer, when possible, to check for the presence
of clinically significant mutations.
To understand the potential benefits and harms of genetic counseling, the USPSTF reviewed 18 studies (40–57)
published since its previous review. Studies generally reported
positive (or no negative) psychological effects, increased accuracy of
risk perception, or decreased intention to have genetic testing.
Genetic counseling significantly decreased breast cancer worry in 8 studies (44–46, 48, 50, 53–55). Three studies (41, 44, 49)
reported decreased or no changes in general anxiety and depression
after genetic counseling, whereas other studies found no significant
differences in anxiety scores (48, 50). However, 1 of these studies noted an increase in state anxiety scores after genetic counseling (44). Eight studies published since 2004 reported improved accuracy of risk perception after genetic counseling (41–42, 44–47, 49–50, 52). Two studies reported decreased intention to have genetic testing after genetic counseling (45–46).
Interventions
that may reduce risk for cancer in women who are BRCA mutation carriers
include: earlier, more frequent, or intensive cancer screening; use of
selective estrogen receptor modulators as risk-reducing medications (for
example, tamoxifen or raloxifene); and risk-reducing surgery (for
example, mastectomy or salpingo-oophorectomy).
Evidence
is lacking on the effect of intensive screening for BRCA-related cancer
on clinical outcomes in women who are BRCA mutation carriers.
Selective
estrogen receptor modulators reduced the incidence of invasive breast
cancer in several randomized, controlled trials (58–64),
although clinical trials of tamoxifen and raloxifene have not been
conducted specifically in women who are BRCA mutation carriers. In a
meta-analysis of trials published to date (26, 65),
tamoxifen and raloxifene reduced the incidence of estrogen
receptor–positive invasive breast cancer, with 7 fewer events per 1000
women for tamoxifen (4 trials) and 9 fewer events per 1000 women for
raloxifene (2 trials), assuming 5 years of treatment. Selective estrogen
receptor modulators do not reduce risk for estrogen receptor–negative
breast cancer, which includes 69% of breast cancer cases associated with
BRCA1 mutations and 16% associated with BRCA2 mutations (66).
In
cohort studies of high-risk women and those who are BRCA mutation
carriers, risk-reducing surgery (for example, mastectomy or
salpingo-oophorectomy) substantially reduced risk for breast or ovarian
cancer. Mastectomy reduced breast cancer risk by 85% to 100%, and
oophorectomy or salpingo-oophorectomy reduced ovarian cancer risk by 69%
to 100% and breast cancer risk by 37% to 100% (9). In 1 fair-quality prospective cohort study (27),
salpingo-oophorectomy was also associated with a 55% relative reduction
in all-cause mortality (as measured during the course of the study) in
women with BRCA1 and BRCA2 mutations without a history
of breast cancer. Breast cancer risk reduction associated with
oophorectomy was more pronounced in women who were premenopausal at the
time of surgery (27, 67).
Intensive
screening for breast and ovarian cancer is associated with
false-positive results, unnecessary imaging, and unneeded surgery. In 2
studies comparing mammography with magnetic resonance imaging for breast
cancer screening in which 18% to 100% of study participants were BRCA
mutation carriers, mammography was associated with higher false-positive
rates (14% vs. 5.5% in the first round of screening; P < 0.001 [68]; 15% vs. 11% in another study [69]) and more false-negative results (12 vs. 1 case in the first round of screening; 12 vs. 4 cases in subsequent rounds [68]).
In a retrospective analysis of a cohort of women with potentially
harmful BRCA mutations or first-degree relatives with BRCA mutations,
those who were screened with mammography were more likely to have
unneeded imaging than those who were screened with magnetic resonance
imaging; however, rates of unneeded biopsy were similar (69).
Risk-reducing
medications (for example, tamoxifen or raloxifene) can increase risk
for thromboembolic events (4 to 7 events per 1000 women over 5 years).
Tamoxifen increased the risk for endometrial cancer (4 to 5 cases per
1000 women) compared with placebo or raloxifene, and it also increased
risk for cataracts (15 per 1000 women) compared with raloxifene (26, 63).
Data
on the long-term physical harms of risk-reducing mastectomy are
limited. In high-risk women having risk-reducing mastectomy with
immediate reconstruction, 21% in 1 series had complications (for
example, hematoma, contracture, or implant rupture) (70).
In another series, 64% reported postsurgical symptoms (for example,
numbness, pain, tingling, infection, swelling, breast hardness,
bleeding, organizing hematoma, failed reconstruction, breathing
problems, thrombosis, and pulmonary embolism) (71).
After risk-reducing oophorectomy, 5% of women in 1 study had
postsurgical complications (for example, wound infection, bladder or
uterine perforation, or small-bowel obstruction) (72).
Seven observational studies provided data on psychological distress due to risk-reducing mastectomy (71, 73–76) or oophorectomy (25, 77). In 1 study of 90 women who had risk-reducing bilateral mastectomy (73–74),
there were significant reductions in scores for anxiety and sexual
pleasure and no significant differences in depression scores, body image
concerns, or other measures. In another study (75),
there were no significant differences in psychological measures between
women who had risk-reducing mastectomy and a reference sample that did
not have the procedure. Ten years after risk-reducing mastectomy, most
women in another study reported that their family lives were unchanged,
but 39% reported negative effects on spousal relationships because of
decreased sensation and changed body appearance (76).
After risk-reducing salpingo-oophorectomy, premenopausal women reported
significant worsening of vasomotor symptoms and decreased sexual
function (77).
For women whose family history is associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2
genes, the USPSTF found adequate evidence that the benefits of testing,
detection, and early intervention are moderate. For women whose family
history is not associated with an increased risk for potentially harmful
mutations in the BRCA1 or BRCA2 genes, the USPSTF
found adequate evidence that the benefits of testing, detection, and
early intervention are few to none. The USPSTF found adequate evidence
that the overall harms of testing, detection, and early intervention are
small to moderate.
For women whose family history is associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2
genes, the USPSTF concludes with moderate certainty that the net
benefit of testing, detection, and early intervention is moderate. For
women whose family history is not associated with an increased risk for
potentially harmful mutations in the BRCA1 or BRCA2
genes, the USPSTF concludes with moderate certainty that the net benefit
of testing, detection, and early intervention ranges from minimal to
potentially harmful.
The BRCA1 and BRCA2
genes are tumor suppressor genes. Mutations of these genes have been
linked to hereditary breast and ovarian cancer. Risks for breast,
ovarian, and other types of BRCA-related cancer are greatly increased in
patients who have inherited potentially harmful BRCA1 or BRCA2
mutations. Genetic testing may identify such mutations. Several options
are available to manage cancer risk in patients who are found to be
mutation carriers.
A
draft version of this recommendation statement was posted for public
comment on the USPSTF Web site from 2 April through 29 April 2013. In
response to comments, the USPSTF clarified that this recommendation
statement applies to women. It also expanded the recommendation to
include women who have family members with tubal or peritoneal (in
addition to breast or ovarian) cancer. The USPSTF clarified that it
recognizes the potential importance of further evaluating women who have
a diagnosis of breast or ovarian cancer; however, that assessment is
part of disease management and is beyond the scope of this
recommendation.
The
USPSTF added that it found insufficient evidence to recommend one risk
assessment tool over another or to support a specific risk threshold for
referral for genetic counseling and BRCA testing. It also added a
compilation of risk assessment tools (Tables 1, 2, 3, 4, and 5).
Although the preferred BRCA testing strategy is initial testing of a
family member with breast or ovarian cancer, the USPSTF clarified that
it is reasonable to start testing in an unaffected individual if no
affected relative is available. Because of the complexity of BRCA test
results, the USPSTF also suggests posttest counseling. It also clarified
and updated information on BRCA testing, other resources, and
recommendations of other groups.
In
2005, the USPSTF recommended that women whose family history is
associated with an increased risk for potentially harmful mutations in
the BRCA1 or BRCA2 genes be referred for genetic
counseling and evaluation for BRCA testing. It also recommended against
routine referral for genetic counseling or routine BRCA testing for
women whose family history is not associated with an increased risk for
potentially harmful mutations in the BRCA1 or BRCA2 genes (78).
This
recommendation statement reaffirms the USPSTF's previous
recommendation. Since 2005, family history risk stratification tools
have been developed and validated for use in primary care practice to
guide referral for BRCA genetic counseling (Tables 1, 2, 3, 4, and 5).
In addition, the potential benefits and harms of medications for breast
cancer risk reduction have been studied for longer follow-up periods,
and more information is available about the potential psychological
effects of genetic counseling and risk-reducing surgery.
The National Comprehensive Cancer Network provides specific criteria for genetic counseling and testing (1).
The American Congress of Obstetricians and Gynecologists recommends
genetic risk assessment for women who have more than a 20% to 25% risk
for an inherited predisposition to breast and ovarian cancer and states
that it may be helpful for patients with more than a 5% to 10% risk (79).
The American Society of Clinical Oncology recommends genetic testing
when there is personal or family history suggestive of genetic cancer
susceptibility, the test can be adequately interpreted, and the results
will aid in diagnosis or medical management of the patient or family
member who has hereditary risk for cancer. It also recommends genetic
testing only when pretest and posttest counseling are included (80).
The National Society of Genetic Counselors has issued practice
guidelines for risk assessment and genetic counseling for hereditary
breast and ovarian cancer. It recommends that genetic testing should be
offered to individuals with a personal or family history suggestive of
an inherited cancer syndrome, when the test can be adequately
interpreted, if testing will influence medical management of the patient
or relative, when potential benefits outweigh potential risks, if
testing is voluntary, and when the individual seeking testing or a legal
proxy can provide informed consent (81).
The European Society for Medical Oncology recommends that all patients
who may be referred for BRCA testing should first complete informed
consent and genetic counseling and patients who are mutation carriers
should be encouraged to advise close family members to obtain genetic
counseling (82).
The Society of Gynecologic Oncologists recommends genetic risk
assessment for individuals with a personal risk of more than
approximately 20% to 25% for an inherited predisposition to cancer and
states that it may be helpful for patients with more than approximately
5% to 10% risk. Genetic testing for cancer predisposition requires
informed consent that should encompass pretest education and counseling
about the risks, benefits, and limitations of testing, including the
implications of both positive and negative genetic test results (83).
Members
of the U.S. Preventive Services Task Force at the time this
recommendation was finalized† are Virginia A. Moyer, MD, MPH, Chair (American Board of Pediatrics, Chapel Hill, North Carolina); Michael L. LeFevre, MD, MSPH, Co-Vice Chair (University of Missouri School of Medicine, Columbia, Missouri); Albert L. Siu, MD, MSPH, Co-Vice Chair
(Mount Sinai School of Medicine, New York, and James J. Peters Veterans
Affairs Medical Center, Bronx, New York); Linda Ciofu Baumann, PhD, RN
(University of Wisconsin, Madison, Wisconsin); Kirsten Bibbins-Domingo,
PhD, MD (University of California, San Francisco, San Francisco,
California); Susan J. Curry, PhD (University of Iowa College of Public
Health, Iowa City, Iowa); Mark Ebell, MD, MS (University of Georgia,
Athens, Georgia); Glenn Flores, MD (University of Texas Southwestern,
Dallas, Texas); Francisco A.R. García, MD, MPH (Pima County Department
of Health, Tucson, Arizona); Adelita Gonzales Cantu, RN, PhD (University
of Texas Health Science Center, San Antonio, Texas); David C. Grossman,
MD, MPH (Group Health Cooperative, Seattle, Washington); Jessica
Herzstein, MD, MPH (Air Products, Allentown, Pennsylvania); Wanda K.
Nicholson, MD, MPH, MBA (University of North Carolina School of
Medicine, Chapel Hill, North Carolina); Douglas K. Owens, MD, MS
(Veterans Affairs Palo Alto Health Care System, Palo Alto, and Stanford
University, Stanford, California); William R. Phillips, MD, MPH
(University of Washington, Seattle, Washington); and Michael P. Pignone,
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BMC medical genetics
Issue date:
2013
Revealing the incidentalome when targeting the tumor genome.
JAMA : the journal of the American Medical Association
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2013 Aug 28
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