Model Development and Validation
The BOADICEA breast cancer risk prediction algorithm has been extended to include the effects of rare mutations in the known breast cancer susceptibility genes, the combined effects of the common genetic variants (Polygenic Risk Scores), the known lifestyle/hormonal risk factors and mammographic density. A methodological manuscript describing this model is currently in preparation and the algorithm is used as part of the CanRisk tool prototype. A parallel algorithm has been developed for ovarian cancer. A major focus of our team for 2018 will be the assessment of the clinical validity of the cancer risks provided by these models in large prospective cohorts of unaffected women.
Evaluation Phase I Study and CE marking
The CanRisk programme includes the development of user-friendly cancer risk assessment tools as the ‘frontends’ for the cancer risk prediction models for use in healthcare. The CanRisk tool evaluation Phase I study, due to start in April and finish end of the year, aims to understand the usefulness and usability of this frontend tool by healthcare practitioners in a consultation. In the study we aim to assess the usability of the design and interface for data collection as well as risk presentation in a consultation, describe the acceptability, identify and determine any potential impact the use of the CanRisk tool has on the patient-healthcare professional interaction. To do this, the evaluation will use mixed methods approaches, including questionnaires, simulated consultations and in depth interviews on the use of the CanRisk tool.
To ensure the CanRisk tool complies with recent changes in regulations governing medical devices, we have also begun the process for obtaining CE marking.
Publication: pedigreejs: a web-based graphical pedigree editor
|Recent Key Publications:
Medical Student research projects
The CanRisk programme has given Cambridge medical students an opportunity to do short research projects focusing on collecting data about single risk factors which are associated with breast cancer. Tom Weatherby and Stephen Woodmansey have examined breastfeeding, and Bhvana Ramachandran and Nabila Rehnnuma have examined oral contraceptive use by systematically reviewing the literature. The breast feeding review findings were presented at the Royal College of General Practitioners (RCGP) conference in October 2017, and the oral contraceptive review findings were presented at the Society for Academic Primary Care (SAPC) meeting in Madingley and the first UK Interdisciplinary Breast Cancer Symposium in Manchester, both held during January 2018.