Respected Contributor
Posts: 3,486
Registered: ‎05-23-2010

Criteria for BRCA 1/2 genetic testing for breast cancer is expanded

[ Edited ]


The criteria for genetic testing for BRCA 1/2 has been expanded. Doctors can do a quick check sheet assessment to determine if women need genetic testing for these breast and ovarian cancer causing mutations. Ashkenazi Jewish ancestry has been added to the criteria list. So has anyone that is a survivor of breast, ovarian, tubal or peritoneal cancer. If you fall into any of these groups ask your doctor for a quick screen assessment (the doctor just asks you a few questions, that’s all) to see if you need genetic testing. 


Recommendation Grade

Women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or an ancestry associated with BRCA1/2gene mutation

The USPSTF recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with breast cancer susceptibility 1 and 2 (BRCA1/2) gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing.

Women whose personal or family history or ancestry is not associated with potential harmful BRCA1/2 gene mutations

The USPSTF recommends against routine risk assessment, genetic counseling, or genetic testing for women whose personal or family history or ancestry is not associated with potentially harmful BRCA1/2 gene mutations. 




“In the August 20, 2019, issue of JAMA, the US Preventive Services Task Force (USPSTF)1 offers updated recommendations for risk assessment, counseling, and genetic testing for the BRCA1and BRCA2 genes. As in 2013, the USPSTF recommends risk assessment for women with family histories of breast, ovarian, tubal, or peritoneal cancers using risk stratification tools and offering those with positive results genetic counseling and possible testing (Grade B recommendation). The USPSTF continues to recommend against large-scale population risk assessment (Grade D recommendation). The 2019 recommendations explicitly add ethnicities and ancestries associated with pathogenic BRCA1 or BRCA2 gene variants (eg, Ashkenazi Jewish) as an indicator for risk assessment, dramatically expanding the number of testable patients in the primary care setting from the 2013 recommendations. Importantly, the USPSTF emphasizes that “Genetic counseling…should be done by trained health professionals, including trained primary care providers.” With the increase in women eligible for genetic counseling and testing under these recommendations and the explicit directive for primary care practitioners (PCPs) to consider clinical genetics training per the 2019 USPSTF recommendations, the oncology community should welcome the opportunity to better integrate comprehensive cancer risk assessment and genetic testing for BRCA1 and BRCA2into routine preventive medicine.”

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Posts: 1,576
Registered: ‎03-20-2010

Re: Criteria for BRCA 1/2 genetic testing is expanded

THank you for he information Mindy!  Stay well- 💝