ABSTRACT
The aim of clinical genetics is to elucidate the cause of familial breast cancer where possible, and to cascade information to their relatives that may benefit from risk reduction and/or screening. Recently there has been an increased drive for ‘mainstreamed' genetics clinics whereby treatment-focused genetic testing is performed within the specialty department looking after the patient (e.g., oncology or breast surgery). This approach increases the overall capacity for genetic testing and should reduce delays in accessing tests and results. Predicting cancer risk is more complex than just determining if a detected variant is disease-causing and then looking up lifetime penetrance curves. Mendelian genetics is being complemented by tumour sequencing and pharmacogenetic analysis to try and ensure patients are offered the most beneficial treatments at the correct dose first time. The aim is a more personalised service to reduce side effects and a more biologically informed/evidence-based prescribing of hazardous and expensive drugs.
