Harmfulmutations in the BRCA1 and BRCA2 genes (BRCA1/2) are correlated with increased risk fordeveloping peritoneal, fallopian tube, ovarian, male and female breast,pancreatic, and aggressive prostate cancers. The United States PreventiveServices Task Force (USPSTF) recently updated their recommendations for riskassessment, genetic counseling, and genetic testing for BRCA1/2-relatedcancers from their 2013 recommendation.1

Breastcancer is the most common cancer following nonmelanoma skin cancer in women inthe United States, and it is the second leading cause of cancer death. BRCA1/2mutations occur in approximately 1 in 300 to 500 women, and these mutationsaccount for 5% to 10% of cases of breast cancer and 15% of cases of ovariancancer.1

New Inclusions

In its 2019 recommendation, the USPSTF recommends evaluating women who have a personal or family history of peritoneal, fallopian tube, ovarian, or breast cancer or who have ancestry with harmful mutations in the BRCA1/2 genes with a familial-risk assessment tool. Patients who receive a positive result on the risk-assessment tool should receive genetic counseling and genetic testing if indicated.1

Forwomen without a personal or family history of these cancers or a family historyof harmful BRCA1/2 mutations,the USPSTF recommends against routine risk assessment, genetic counseling, andgenetic testing.1

Nursenavigators are likely to play an important role in facilitating thorough,in-depth conversations with patients about routine assessment, geneticcounseling, and genetic testing. In fact, a 2015 study on efficiency inidentifying cancer patients who should undergo genetic and genomic testing indicatednurse navigators were particularly well positioned in the continuum of cancercare to facilitate timely testing in compliance with recommendations from theNational Comprehensive Cancer Network.2

Support for the Updates

Toupdate their recommendations, the USPSTF evaluated evidence on risk assessment,genetic counseling, and genetic testing for BRCA1/2 mutations in women without symptoms who had never beendiagnosed with a BRCA-related cancer and in women with a prior diagnosisof peritoneal, fallopian tube, ovarian, or breast cancer. Recommendationsindicated a moderate (grade B) benefit to assessment, genetic counseling, andgenetic testing in women with a family or personal history that correlated withincreased risk for peritoneal, fallopian tube, ovarian, or breast cancer or whohave family with harmful BRCA1/2mutations. For women without such personal or family history of cancer or BRCA1/2 mutations, the USPSTF gave a gradeD recommendation, discouraging the service from being used.1

Agrade of B means the USPSTF recommends the service offered as having highcertainty that the net benefit is moderate, or there is moderate certainty thatthe net benefit is moderate to substantial. A grade of D means the USPSTFdiscourages the use of the service as having moderate or high certainty thatthe service has no net benefit or that the harms outweigh the benefits.1

Notably,this updated recommendation now includes women with a previous history ofbreast or ovarian cancer who are considered cancer-free and includes ancestryas a risk factor. A perspective piece contextualizing the USPSTF recommendationalso noted that importantly, but not included in this recommendation, BRCA1/2status is relevant for patients with newly diagnosed early stage breast cancerfor surgical decision making and can also be used to determine appropriatetreatment of certain advanced cancers.3

Althoughthe authors of this perspective emphasized the importance of expanding theUSPSTF recommendation, they also lauded the clear recommendation of identifyingpatients with deleterious BRCA1/2mutations as potentially lifesaving and should be a part of routine medicalcare.3

Originally posted here:
USPSTF Expands Criteria for Recommended BRCA-Associated Genetic Counseling - Oncology Nurse Advisor

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