


Thus, it is useful to develop simplified adaptations of BRCAPRO. However, in many health care settings, collecting exhaustively the family history used by BRCAPRO is not practical. BRCAPRO is improved continually and currently can utilize a wealth of relevant information on proband and family history. It estimates the probability that a counselee carries a deleterious mutation of BRCA1 or BRCA2 as well as his/her risk of developing cancer. The BRCAPRO genetic risk prediction model is widely used in genetic counseling and is freely available through the BayesMendel R package, CancerGene genetic counseling package ( ), HughesRiskApps (HRA ), and through a web-based risk service ( ). Such adaptation could play a central role in identifying potential carriers so that they can be referred for risk assessment, genetic testing, and appropriate management. Genetic risk prediction models used currently in genetic counseling could help fill this gap if adapted and incorporated into Electronic Medical Records (EMR) or other Health Information Technology (HIT) solutions. This is partly because health care providers lack tools that can help them efficiently identify high-risk patients within the time and resource constraints of a busy practice. Yet a majority of mutation carriers remain unaware of their status and risk, and are not managed in a way that might mitigate their risk. Carriers of deleterious mutations of the BRCA1 and BRCA2 genes are at a much higher lifetime risk of developing breast and ovarian cancers than the general population, and may benefit from more intensive screening, prophylactic surgery, and/or chemoprevention.
