Computerised Genetic Risk Assessment and Decision Support in Primary Care

Andrew Coulson, David Glasspool, John Fox, Jon Emery


Public awareness of the availability of genetic testing threatens to put severe strain upon genetics clinics in the near future. General practitioners (GPs) could help avert this problem by making an initial genetic risk assessment and acting as gatekeepers to specialist services. However, studies in the United Kingdom suggest that few GPs feel they have the requisite skills for taking family history details and making an appropriate referral decision. They are also poorly served by computer-based pedigree programs, which do not cater to the specific needs of a general practice consultation.
To address these issues, a new computer application called RAGs (Risk Assessment in Genetics) has been designed. The system allows a doctor to create family trees and assess genetic risk of breast cancer. RAGs possesses two features that distinguish it from similar software: (a) a user-centred design, which takes into account the requirements of the doctor-patient encounter; (b) risk reporting using qualitative evidence for or against an increased risk, which the authors believe to be more useful and accessible than numerical probabilities are. In that the system allows for any genetic risk guideline to be implemented, it can be used with all diseases for which evaluation guidelines exist. The software may be easily modified to cater for the amount of detail required by different specialists.

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