Response to USPSTF Draft Guidelines on BRCA Testing
The United States Preventive Services Task Force (USPSTF) is a government-supported independent panel of experts that reviews and develops recommendations on select preventive health services. The task force just released a new draft of their guidelines on genetic counseling and testing for BRCA. As currently written, these guidelines have gaps that will directly affect patient access to genetic counseling, BRCA testing, and preventive services.
Significance of These Guidelines
The USPSTF published guidelines are important to consumers for two reasons:
- Primary care clinicians and health systems follow these guidelines. The content of the guidelines can affect what information doctors convey to patients about hereditary cancer, genetic counseling, genetic testing, screening, and prevention.
- The panel’s guidelines are incorporated into the Patient Protection and Affordable Care Act (PPACA), which states that health plans must provide benefits without imposing cost-sharing (i.e., without a deductible or co-pay) for services that have a rating from the task force of “A” or “B.”1
In 2005, the USPSTF first issued guidelines for primary care providers on “Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility.” The task force assigned a grade “B” to the recommendation of genetic counseling and testing for women with a family history suggestive of a possible BRCA mutation. It issued a grade “D” on genetic testing in women without a family history suggestive of a mutation.
In 2011, the USPSTF announced its plan to update these guidelines, and asked for public commentary on their research plan for this update. In April 2012, FORCE submitted written recommendations to the USPSTF on its evaluation plan to update the 2005 guidelines. In April 2013, the USPSTF released new draft guidelines and solicited public commentary; this update makes few changes to the 2005 guidelines and grades. We agree with the assigned grades; however, we have concerns about aspects of the updated guidelines and gaps that remain unaddressed.
On April 29, 2013, FORCE submitted our response to the USPSTF regarding these draft guidelines. Some of our concerns and recommendations follow; our full written comments can be viewed here viewed here.
FORCE Concerns and Recommendation
The patient population covered by the guidelines is too narrow.
The USPSTF states: “These recommendations apply to women who have not received a diagnosis of breast or ovarian cancer but who have family members with breast or ovarian cancer whose BRCA status is unknown. Women presenting to their primary care providers who have a relative with a known potentially harmful mutation in the BRCA1 or BRCA2 genes should receive genetic counseling and consideration for testing. These recommendations do not apply to men, although male family members may be identified for testing during the course of the evaluation.”
Important groups not specifically included in the USPSTF guideline “B” letter grade are:
- Women who have been diagnosed with cancer
- Women with a known BRCA mutation in the family
- Women with a family history of cancers other than breast or ovarian cancer that might be associated with an inherited syndrome
- Men with a family history of cancer or known mutation in the family
Groups that are not specifically covered by the “B” grade” in the guidelines may not benefit from certain provisions in the PPACA. This may affect insurance coverage and access to care for these populations. We recognize that there is a lack of research specific to the preventive benefits of genetic counseling and testing for some of the above groups. However, we believe sufficient research exists to include the groups outlined below.
Extend the evaluation and letter grade to women with a known mutation in the family.
As written, the USPSTF acknowledges that women who have a relative with a known mutation in BRCA1 or BRCA2 should receive genetic counseling and consideration for testing, but the language of the current guidelines does not include these individuals in the “Patient Population Under Consideration.”
Extend the evaluation and letter grade to women who have been diagnosed with breast cancer and who meet criteria based on personal and family history of cancer for genetic counseling and testing.
- Women with a BRCA mutation who have already been diagnosed with breast cancer are at very high risk for a second primary breast cancer and for ovarian cancer.2, 3, 4 Cancer screening and prevention options for a new cancer diagnosis are similar to those for previvors (women with a mutation who have never been diagnosed with cancer). Risk-reducing bilateral salpingo-oophorectomy lowers cancer-specific and overall mortality in this population.5
- Genetic testing within a family is morecost-effectiveand most likely to yield conclusive results if itbeginswith someone who has had a cancer diagnosisconsistent with a hereditary cancer syndrome.Omitting cancer survivors from these guidelines maylead to more uninformative tests and higher costs as more unaffected familymembers are tested, rather than beginning testing with a family member who is most likely to test positive.
No letter grade is assigned to risk-management options.
The task force mentions risk-management interventions but does not assign letter grades to specific prevention and screening options. Without a letter grade assigned to the interventions, these preventive services are not guaranteed coverage under the PPACA.
Assign a letter grade to the following risk-management options, based on review of research.
- Breast MRI 6, 7, 8
- Risk-reducing bilateral mastectomy9
- Risk-reducing bilateral salpingo-oophorectomy 5
- Oral contraceptives 10
The current guidelines miss the opportunity to identify people with family history indicative of other inherited cancer syndromes.
Regarding Screening, Risk Assessment, and Testing, the task force states: “In the course of standard elicitation of family history information from patients, primary care providers should ask about specific types of cancer, which family members were affected, and the age and sex of affected family members.”
A family history of certain cancers may also be indicative of other hereditary syndromes associated with different mutations than BRCA. Lynch Syndrome, for example, can be associated with ovarian, colon, and endometrial cancers. By only providing guidelines on identification of individuals who may carry a BRCA mutation, the USPSTF is missing the opportunity to guide practitioners to identify individuals who may carry other types of hereditary syndromes for which preventive care options are available.
Review of evidence and development of guidelines for Risk Assessment, Genetic Counseling, and Genetic Testing for Lynch Syndrome and other relevant hereditary cancer syndromes. The USPSTF should create one set of integrated practice guidelines for collecting family history and referral of appropriate individuals for genetic counseling, testing, and related preventive services.
It is worthwhile to have panels review the research on risk assessment and preventive care and develop guidelines for health care professionals. Focusing on preventive medicine and risk assessment allows us to better tailor prevention and screening for those in the highest risk categories, manage health care costs, and save lives. However, it is important that the panel reviewing and grading the research on disease predisposition and prevention is composed of experts with training in genetics and oncology as well public health experts. The narrow approach of reviewing research for only one hereditary cancer syndrome and only specific portions of the community does not best serve the public.
The USPSTF Draft Guidelines on Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer highlight gaps in how our current system approaches public health, genomics, and personalized medicine. There is a continued need for FORCE to educate and unite our community about these issues and to advocate for more HBOC-specific research and consumer access to credible information and health care services. FORCE will be working with other advocacy groups and health care professionals to develop better strategies for incorporating risk-assessment and genetics into public health and improving public access to genetic counseling, testing, and screening and preventive services.
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Page updated 05/05/13
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