CanRisk Tool—A Web Interface for the Prediction of Breast and Ovarian Cancer Risk and the Likelihood of Carrying Genetic Pathogenic Variants

Abstract

Background: The CanRisk Tool (https://canrisk.org) is the next-generation web interface for the latest version of the BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) state-of-the-art risk model and a forthcoming ovarian cancer risk model. Methods: The tool captures information on family history, rare pathogenic variants in cancer susceptibility genes, polygenic risk scores, lifestyle/hormonal/clinical features, and imaging risk factors to predict breast and ovarian cancer risks and estimate the probabilities of carrying pathogenic variants in certain genes. It was implemented using modern web frameworks, technologies, and web services to make it extensible and increase accessibility to researchers and third-party applications. The design of the graphical user interface was informed by feedback from health care professionals and a formal evaluation. Results: This freely accessible tool was designed to be user friendly for clinicians and to boost acceptability in clinical settings. The tool incorporates a novel graphical pedigree builder to facilitate collection of the family history data required by risk calculations. Conclusions: The CanRisk Tool provides health care professionals and researchers with a user-friendly interface to carry out multifactorial breast and ovarian cancer risk predictions. It is the first freely accessible cancer risk prediction program to carry the CE marking. Impact: There have been over 3,100 account registrations, and 98,000 breast and ovarian cancer risk calculations have been run within the first 9 months of the CanRisk Tool launch.

Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I)

“…Finally, BOADICEA has been implemented in CanRisk (www.canrisk.org (accessed on 2 June 2021)), a web-tool that facilitates breast cancer risk calculations by health care professionals in the clinic [45]. This platform was developed following close consultations and usability assessments with key stakeholders at different levels of clinical care [46].…”

“…This platform was developed following close consultations and usability assessments with key stakeholders at different levels of clinical care [46]. CanRisk has recently gained regulatory approval (CE marking) for use by healthcare professionals in the United Kingdom, and the European Economic Area (EEA) (released 6 January 2020) [45]. While the regulatory path for such web-tools in Canada is less clearly defined than in the UK/EEA regions [47][48][49][50][51], our team is at the forefront of the research and discussion to advance this issue and enable the use of CanRisk by Canadian health professionals [52].…”

“…Mammographic density, as reported by the radiologist according to the Breast Imaging, Reporting and Data System (BI-RADS) classification, is abstracted from recent mammogram reports. Questionnaire data, PRS, and mammographic density are then used to estimate 10-year breast cancer risks, using the CanRisk prediction tool [45].…”

“…The use of the extended version of BOADICEA implemented in the CanRisk webtool [45] raises complex regulatory issues, considering the significance of the medical risk information it provides [51]. The specific requirements needed for the CanRisk tool to comply with the Canadian legal framework for web-tools "software as a Medical Device" are being assessed.…”

Of Screening, Stratification, and Scores

“…The detrimental effects that ill-suited, convoluted, or uncertain regulatory frameworks could have on the development, implementation, use, and access of PRSs could also extend to those of other risk assessment tools. One of these tools could be risk prediction models, which can incorporate PRSs combining clinical, biochemical, lifestyle, and historical risk factors to predict 10-year risk of cardiovascular disease, diabetes, or breast/ovarian cancer [ 12 , 40 , 83 , 85 , 110 , 111 , 112 , 113 ]. As such, inappropriate or uncertain regulatory frameworks could prevent patients from having access to available PRSs, risk prediction models, or screening programmes that could enable timely diagnoses that could offer the opportunity to make simple changes in their lifestyles or more moderate adjustments such as diet or exercise instead of undergoing more radical course of action such as surgical procedures or pharmacological interventions [ 83 ].…”