Application

Screening tool that quickly and easily identifies patients who should be referred for a Hereditary Breast and Ovarian Cancer (HBOC) risk assessment and genetic consultation.

Key Benefits

• Recommended by the 2013 United States Preventive Task Force (USPSTF) as a preferred tool for screening women with a family history of breast and/or ovarian cancer.
• Uses a series of 6 simple questions to identify individuals at risk for HBOC with accuracy comparable to detailed pedigree analysis by complicated models.
• Proprietary algorithm can be integrated into a healthcare provider’s electronic medical record system for seamless access by primary care physicians.

Market Summary

Hereditary breast and ovarian cancer (HBOC) associated with inherited mutations in the BRCA1 or BRCA2 genes, accounts for approximately 5% of all breast cancers and 15% of ovarian cancers. Women with BRCA1/2 mutations have a lifetime risk between 45-85% of developing breast cancer with more than half of the cases occurring before age 50. In addition, their likelihood to develop ovarian cancer is as high as 30-fold that of the general population. Men who carry BRCA1/2 mutations are also at increased risk for cancer, and the offspring of both men and women have a 50% chance to inherit the familial mutation. The United States Preventive Services Task Force recommends that women with a family history suggestive of possible HBOC be referred for genetic counseling and evaluation for BRCA testing. Currently there are barriers to genetic referrals including inadequate collection of family history and poor understanding of hereditary risk assessment. Using this proprietary algorithm, primary care providers can enter a patient’s family cancer history and the software will suggest if a referral for genetic services is warranted. Identifying and referring patients at risk for HBOC allows for the most effective use of genetic testing and ensures that both patients and family members found to carry a BRCA1/2 mutation will benefit from early detection and prevention strategies.

Technical Summary

Currently, there is a need for a HBOC screening tool that is easy, quick to administer and has been validated scientifically. The Breast Cancer Genetics Referral Screening Tool (B-RST 3.0) is one of two screening tools that the USPSTF has recommended for HBOC screening in the primary care setting. Patients are questioned on their family history of breast and ovarian cancer. B-RST 3.0 also differentiates between cancers on either side of the family to better assess the need for genetic testing. This updated screening tool was evaluated in a large cohort tested for BRCA1/2 mutations. B-RST 3.0 was found to have a sensitivity of 93% to identify individuals with a BRCA1/2 mutation, while maintaining a specificity significantly higher than that of the National Comprehensive Cancer Network (NCCN) guidelines. The B-RST serves as a quick, easy, user-friendly tool in which providers can enter a patient’s family history and receive a recommendation on whether or not to seek genetic counseling.

Developmental Stage

B-RST was proven to have high levels of specificity and sensitivity compared to detailed pedigree analyses. The tool can be viewed at its website.