Background: To review the initial results of the implementation of a risk assessment program in our outpatient community-based breast-imaging practice.
Methods: From May 1, 2011 through November 4, 2013 a total of 96,389 patients presented to our facility. Each patient was required to complete a health history form. 24,850 (25.7 %) were flagged through our radiology information system (RIS) as potentially being at increased risk for breast cancer per responses on the health history form. Patient flagging was based on a system we developed. Letters were generated informing flagged patients and her physician that the patient could be a candidate for further breast cancer risk assessment. Genetic testing performed was primarily for BRCA1/BRCA2; testing for other mutations was offered based on personal and family history of the patient.
Results: 1,088 genetic counseling appointments occurred during the time frame from the 24,850 patients flagged, leading to 887 genetic tests performed. Forty-three mutations were detected: 21 BRCA1, 19 BRCA2, 1 MLH1, 1 MSH6 and 1 CHEK2. There were 717 negative tests, 20 variants of unknown significance; the remaining cases were cancelled. 464 high-risk MRIs were performed after the patient was referred from the program, from which 52 biopsies were performed due to a finding on MRI revealing 14 malignancies.
Conclusions: In our experience after implementation of a risk assessment program, 24,850 potential at-risk patients have been flagged, revealing 40 BRCA 1 or 2 mutations. Screening with breast MRI provided to at-risk patients revealed 14 cancers diagnosed that may have otherwise been undetected.
Keywords: BRCA; Breast cancer; Breast imaging; Genetic counseling; Genetic testing.