Case
Elizabeth comes for her annual visit. She is 10 years cancer free and doing well after a breast cancer diagnosis at age 43. Does USPSTF recommend her primary care provider screen for hereditary cancer risk, such as from the BRCA genes?
What does the USPSTF recommend for BRCA risk assessment and genetic testing?
The USPSTF updated this important screening recommendation in August, 2019. It now recommends screening for potentially harmful BRCA1 and BRCA2 gene mutations in women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or an ancestry associated with BRCA1/2 gene mutations. Because the aim is to screen asymptomatic individuals, this includes women with a personal history who have completed treatment and are considered cancer-free.
The recommendation includes using one of several validated tools (see below) that factor in family and personal history of breast, ovarian, tubal, or peritoneal cancer as a risk factor is also specifically mentioned in this update.
For women identified at increased risk through the use of these tools, USPSTF recommends genetic counseling by trained health professionals. This may be with a genetic counselor or another suitably trained provider. Genetic testing can be considered if indicated after counseling.
What is the rationale for the update now?
USPSTF examined the evidence in the literature and determined that screening women for risk of a BRCA1/2 gene mutation provides a net benefit. In the years since the 2013 recommendation, they state, the validity of genetic testing for BRCA1/2 mutations has been established and the potential benefits and harms of interventions such as imaging, risk-reducing medications and surgery have been studied for longer follow-up periods.
Who it does not include
Although male breast cancer, prostate cancer, pancreatic cancer, and melanoma are associated with BRCA1/2 mutations, discussion of these types of cancer and risk evaluation for men is outside the scope of this recommendation. Several of the tools, however, do evaluate the family history for the presence of these cancers, so it is important to gather information about these cancers as part of the risk assessment. USPSTF does not include a recommendation for screening for women with limited or unknown family history.
What about genetic testing?
This update still focuses on assessment for BRCA1 and BRCA2 risk. It does not make any recommendations on specific genetic testing strategy, stating that the type of mutation analysis required depends on family history. Targeted testing, such as for BRCA1 and BRCA2 mutations found most commonly in the Ashkenazi Jewish population, is an option discussed. While USPSTF acknowledges the growing availability of multigene panels and DTC testing, it does not address clinical care about these issues.
Why is this update important for your practice?
With this update, more women can access genetic counseling and testing, based on the expanded criteria for risk assessment. Women like Elizabeth, and their families, will have the ability to understand their risk to develop BRCA-related cancers and take proactive steps to decrease the chance of developing cancer.
What is the USPSTF’s mission?
The U.S. Preventive Services Task Force (USPSTF) is an independent panel of national experts in preventive and evidence-based medicine. For over 20 years, the Agency for Healthcare Research and Quality (AHRQ) has been authorized by the U.S. Congress to convene this task force. Their recommendations on clinical preventive services for asymptomatic individuals are widely accepted and followed by primary care clinicians.
Tools and Resources
Online tools:
References for point-of-care tools:
- Ontario Family History assessment tool Figure 1
- Manchester Scoring System Table 2
- Referral Screening Tool
- Pedigree Assessment Tool
- 7-Question Family History Screening Tool (FHS-7)
Resources
- Hereditary Breast and Ovarian Cancer Syndrome Factsheet. Describes the clinical features, diagnosis, testing and genetics of hereditary breast and ovarian cancer (HBOC) syndrome.
- Hereditary Cancer Panels. Discusses the benefits, risks and limitations of using multi-gene panels for cancer genetic testing.
- Multigene Panels for Hereditary Breast Cancer Risk. Describes why expanded testing can identify more people with hereditary risk, but may not be for everyone.
- Three Things to Know about Direct to Consumer Breast Cancer Genetic Testing. Includes tips on how to use and interpret results from genetic testing accessed directly by your patients.