NICE launches consultation on familial breast cancer guidelines

15 January 2013

The National Institute for Health and Clinical Excellence (NICE) has today launched a consultation on new draft clinical guidelines relating to genetic testing, screening and the use of preventative treatments for familial breast cancer.

The new guidelines recommend offering the drugs tamoxifen or raloxifene on the NHS to women at high risk to reduce their likelihood of developing the disease, the first time such a step has been taken in the UK.

They also include new guidance on when genetic testing should be offered, and what surveillance strategies should be made available in different circumstances.

The draft says that an individual’s family history should be combined with a calculation of their probability of being a carrier of a high risk BRCA1 or BRCA2 variant to determine who should be referred for genetic testing. It recommends that testing be offered to those with a 10% likelihood of carrying a high risk mutation and should be considered at a 5% likelihood threshold. If there are difficulties calculating carrier probability, clinical judgement should be used to decide whether testing is appropriate.

Other new recommendations include offering annual MRI screening to women who have not had a genetic test, but who are at greater than 30% probability of being a BRCA1/2 carrier.

The guidance says fast track genetic testing (within 4 weeks of diagnosis) should not be offered except during clinical trials, but recommends research be carried out to determine the benefits and harms of creating rapid access to genetic testing for those newly diagnosed with breast cancer.

It also recommends that clinical genetics laboratories should record gene variants of uncertain significance, and that these should be periodically reviewed for evidence of causality.

The guidelines were last updated in 2006. The full draft is available on the NICE website. Comment is open only to registered stakeholder organisations and the deadline for responses is 25 February 2013.

More from us

Genomics and policy news