This blog will cover topics of interest that affect our community. Unless otherwise stated, the blog articles will be written by Sue Friedman, Executive Director of FORCE.

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Proposed Guidelines on BRCA Testing Leave Many Gaps

May 19, 2013

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 panel assigns letter grades to preventive services based on their opinion of strength of the research evidence. The task force just released a draft of their guidelines on genetic counseling and testing for BRCA. Despite some strengths of the updated guidelines; important gaps remain that will directly affect patient access to genetic counseling, genetic testing, and preventive services.

Significance of These Guidelines
The USPSTF published guidelines are important to consumers for two main reasons:

  1. Primary care clinicians and health systems follow these guidelines. The content of the guidelines can affect what information doctors convey to patients about disease risk, screening, and prevention.
  2. The panel’s guidelines must be implemented based on 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.” 

USPSTF Guidelines on BRCA Testing
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” (recommended health care providers offer this to patients) to genetic counseling and testing for women with a family history suggestive of a possible BRCA mutation. It issued a grade “D” (recommended health care providers discourage patients from using these services) to genetic testing in women without a family history suggestive of a mutation. In 2005 this guidance was greatly needed, as many primary care providers were either unaware of BRCA testing or had received most of their information from Myriad Genetics, the laboratory that sells the test. At the time, the USPSTF did not request public or expert commentary on their guidelines.

In 2011, the USPSTF announced its plan to update these guidelines, and asked for public commentary. FORCE (and other health care experts) submitted written recommendations to the USPSTF on its plan to review the research on BRCA genetic counseling and testing and update the guidelines. Despite receiving extensive suggestions for strengthening and improving the guidelines, last month the USPSTF released new draft guidelines that essentially restate the 2005 guidelines and grades with few changes. In general, I agree with the letter grades that were assigned, but I’m disappointed that this opportunity for guideline revision was not used to address critical gaps. With the recent passage of the PPACA—which references USPSTF guidelines to determine insurance coverage of some preventive services—it is more important than ever that the USPSTF guidelines on genetic counseling and testing are practical, comprehensive and evidence-based. Gaps in the guidelines will now directly affect patient access to genetic counseling, testing, and preventive services as outlined by this new legislation.

An overview of our comments is available on our advocacy page, and our full written comments as submitted to the USPSTF can be viewed here.

FORCE Concerns with the Draft Guidelines

  • The patient population covered by the guidelines is too narrow. Important groups are not specifically included in the USPSTF guideline “B” letter grade:
    • 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 puts them at high risk for inherited cancer
    • Men
  • No letter grade is assigned to any risk-management options.
    The task force mentions risk-management interventions but does not assign letter grades to specific prevention and screening options. With no letter grade assigned, these preventive services are not guaranteed coverage under the PPACA, nor will health plans be directed to provide the services without out-of-pocket costs to patients.
  • The current guidelines take a single-syndrome approach to family history and genetics. The task force states: “…primary care providers should ask about specific types of cancer, which family members were affected, and the age and sex of affected family members…For women who have positive family histories of breast or ovarian cancer, primary care providers may use one of several brief familial risk stratification tools to determine the need for in-depth genetic counseling.”

Encouraging doctors to take a patient’s family history of breast and ovarian cancer is a positive step. However, the guidelines only provide instructions for referring women with a positive family history of these two cancers. Other cancers (such as pancreatic cancer) can be associated with a BRCA mutation in a family. Further, a family history of different cancers may indicate other hereditary syndromes associated with different mutations than BRCA. Lynch Syndrome, for example, is associated with a family history of ovarian, colon, and/or endometrial cancers and Cowden Syndrome is associated with breast, thyroid, and uterine cancers.

FORCE Recommendations to the USPSTF
FORCE’s submitted recommendations for addressing these gaps, focusing on issues that we felt had the most supportive research evidence:

  • Extend the evaluation and letter grade to women with a known mutation in the family
  • 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 
  • Assign a letter grade to the following risk-management options
    • Breast MRI 
    • Risk-reducing  bilateral mastectomy
    • Risk-reducing bilateral salpingo-oophorectomy
    • Oral contraceptives
  • Review the evidence and develop one set of integrated practice guidelines for collecting family history and referral of appropriate individuals for genetic counseling, testing, and related preventive services. These guidelines should include Lynch Syndrome and other relevant hereditary cancer syndromes.

Guidelines Are Important, But A New Approach Is Needed
Focusing public health efforts on disease preventive is lifesaving. Applying risk assessment allows us to better tailor prevention and screening for those in the highest risk categories; this approach is both lifesaving and cost saving. Developing expert guidelines based on  the strength of research on preventive care is worthwhile. But we must do a better job in guiding primary care doctors specifically on topics of genetics, risk assessment, screening, and prevention of hereditary disease in order to save more lives.

The USPSTF consists primarily of public health experts rather than clinical experts in disease and genetics. This may not be the best approach for reviewing topics in the realm of personalized medicine and genetics. The Centers for Disease Control (CDC) Office of Public Health Genomics organizes a panel – the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group – which includes both public health experts and clinicians. EGAPP provides an example of a more inclusive panel for reviewing the application of genetics to public health.

The narrow approach of reviewing research for only one hereditary cancer syndrome and only specific portions of the community while ignoring other hereditary syndromes and populations at risk does not serve the public well. Using this approach, the USPSTF is missing the opportunity to help practitioners identify people at very high risk for many preventable diseases with a goal of saving lives. Health care professionals and the public would be better served by having a single set of evidence-based guidelines that address the collection and evaluation of personal and family medical history to identify people who would benefit from genetic counseling and testing for many hereditary diseases. These guidelines should include all hereditary disease syndromes and conditions that have associated genetics tests with clinical utility.

FORCE plans to work with policy-makers and other advocacy groups to outline and propose a new approach to systematic review of preventive services such as collection of family history, genetic counseling, genetic testing, and screening and prevention options. Our goal will be to address important issues including:

  • Determining which experts should be included on preventive services task force panels
  • Prioritizing the diseases and preventive services to be evaluated
  • Integrating the guidelines for different diseases and services into a single set of easy-to-follow recommendations on risk-assessment, screening, and prevention
  • Expanding coverage under the PPACA, Medicare, and Medicaid for preventive services for more diseases, populations, and medical interventions

The new USPSTF draft guidelines highlight gaps in education resources, research and access to care. There is a continued need for FORCE to take action and unite our community to advocate for more HBOC-specific research and more access to credible information, genetic counseling and testing, and risk-management options. At the same time, FORCE will be working with groups representing other hereditary diseases to address the global issue of how to better incorporate personalized medicine and genomics into public health. Stay tuned for updates.

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  1. Catherine Robins says:

    This is an excellent summary of the serious gaps in the USPSTF’s recent draft guidelines. As a student of health policy I can’t help wondering if there is some agenda behind the extreme reluctance of the USPSTF to recommend a comprehensive approach to screening and prevention of genetically-related cancers. The Coverage Decision made by Medicare in 2011, unlike the USPSTF Guidelines, is broad based, and rejects the applicability of Medicare benefits to a broad range of tests for cancer-related genetic conditions, including Lynch syndrome, as well as BRCA mutations.

    At the same time, major private insurers have not waited for an update on the 2005 USPSTF Guidelines; many of them cover the full range of necessary genetic tests and preventive measures in individuals with proven increased risk of genetically-related cancers. (see texts of policies from Aetna, several BCBS companies, including Wellpoint, and Cigna available online, for a partial list).

    The policy importance of these guidelines may lie in their applicability to new insurance plans coming onstream with the ACA and to Medicaid coverage. With 40 as the recommended age for PBSO, many BRCA+ women requiring medically necessary preventive surgery will be in limbo regarding their genetic status and unable to take preventive measures as long as USPSTF refuses to make comprehensive recommendations which are legally binding on public and private insurers.

  2. I agree with what you have said. My only comment is let’s make genetic testing affordable . Then those who want it can have it . They do not have to fit into the sometimes too narrow confines of the guidelines talked about here. I am such a person. My parents were both “only” children and I have very few first , second or even 3rd degree relatives. However I have a few that have had cancer, breast & colon. Since I was “diagnosed” at 53 although it showed up on my mammogram before then and was suspicious, and my family history is spotty. I have been denied coverage.

    • facingourrisk says:

      Hi Karen,
      We agree which is why we are part of the ACLU lawsuit against Myriad to overturn their gene patent. As long as Myriad has a monopoly on testing and refuses to lower the test the cost will not go down.

  3. ConcernedHusband says:

    USPSTF has recommendation for gene testing when family history indicates high risk but where does it go from there? So insurance will cover the test to let you know you will have the cancer but doesn’t give them a recommendation to prevent the cancer through risk reducing surgeries (mastectomy/oophorectomy). How affordable are these procedures in comparison to the test in the event that insurance won’t cover.

  4. Cynthia Kulle says:

    I just returned from Force 2017, and I’m wondering where we are on this fight to have RRS covered for BRCA+ carriers some four years after this article was written? What are we doing on the state and federal level currently? As a personal note, my daughter’s Marketplace Exchange insurance carrier, Humana, has specifically excluded prophylactic services on her policy, even though it appears they cover it for other non-Exchange policyholders. This is an important fight for us right now and I would like to do whatever I can to advocate for all BRCA+ individuals in the future.

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