Individual research recommendation details

Recommendation ID

CG164/2

Question

Rapid genetic testing:- Research is recommended to determine the benefits and harms of creating rapid access to genetic testing for people with newly diagnosed breast cancer. This research should address the optimum model for service delivery and organisation, the clinical and cost effectiveness of such a change, uptake outcomes and patients' experience. [new 2013]

Any explanatory notes
(if applicable)

Why this is important:- There is no clear evidence base for rapid genetic testing at the time of diagnosis of primary breast cancer. Knowledge of genetic status may increase uptake of risk-reducing mastectomy and in future guide first-line chemotherapy. To be useful for such decision-making, results of genetic tests are needed within 4 weeks of diagnosis. This creates logistic problems in providing enough information for considered decision-making and delivering results of genetic tests in a supportive environment. Some GDG members were of the opinion that people had enough to cope with shortly after diagnosis without additional worries about genetic testing. However, others thought that early knowledge of genetic status would help decisions about surgery thus avoiding the need to consider this at a future date. For example, initial treatment by wide local excision often necessitates radiotherapy, which makes an acceptable cosmetic operation more challenging. Genetic counselling to facilitate such decisions soon after diagnosis would require reorganisation of current services.

Source guidance details

Comes from guidance

Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer

Number

CG164

Date issued

June 2013

Other details