Genetic risk assessment for familial breast cancer
The familial breast cancer risk assessment system is designed for the management of adult women who may be at increased risk of developing breast cancer because of a family history of breast or other cancers.
The system has been designed to show how a computerised decision support tool can add value to the conventional guideline document. It helps collect a patient's family history using a family tree builder, then calculates risk and suggests management options.
The objectives of the system are:
- To classify women with family history into three risk categories
- To recommend appropriate referral and risk management options for each category
- To recommend appropriate surveillance options
- To identify women suitable for recruiting in national clinical research trials.
Clinical interventions cover:
- Risk assessment
- Referral
- Radiographic surveillance
- Risk management.
The system is designed for use in primary care, secondary care and tertiary care and also by patients. Target users include general practitioners, breast surgeons, oncologists, radiologists, nurse practitioners. The system can also be used by women who are at risk of familial breast cancer, or concerned that they may be, and also by family members, and anyone with an interest in familial breast cancer or in healthcare in general.
A prospective study of the system is planned at the Royal Free Hampstead NHS Trust Family History Clinic.
Knowledge base
The system is based on evidence collected from the NHS NICE guideline, Familial breast cancer: the classification and care of women at risk of familial breast cancer in primary, secondary and tertiary care, published in October 2006.
Demonstration
References
Coulson AS, Glasspool DW, Fox J & Emery J. RAGs: A novel approach to computerised genetic risk assessment and decision support from pedigrees. Methods of Information in Medicine 2001; 40; 315-322.
Emery J., Walton R., Murphy M., Austoker J., Yudkin P., Chapman C., Coulson A., Glasspool D., Fox J. Computer support for recording and interpreting family histories of breast and ovarian cancer in primary care: comparative study with simulated cases British Medical Journal 2000;321:28-32 (1 July).
NHS NICE guideline. Familial breast cancer: the classification and care of women at risk of familial breast cancer in primary, secondary and tertiary care (CG41), October 2006.