BRCA testing for cancer patients – a new streamlined pathway in practice

Mutations in the cancer predisposition genes, BRCA1 and BRCA2, cause about 15% of ovarian cancer and 4% of breast cancer. Together this is about 2,500 cancers in the UK each year.

Knowing if a cancer is due to a cancer predisposition gene mutation can provide vital information about the cause of the cancer and can aid decisions about the best treatments and drugs to use. It can also help relatives, by identifying those relatives that are at increased risk of cancer and giving a window of opportunity to prevent cancer from occurring in them.

Unfortunately, cancer predisposition gene testing has historically been very restricted due to two types of barriers, testing barriers and access barriers.

The MCG programme is undertaking the multidisciplinary research and implementation required to remove these barriers.

Removing testing barriers

We are now delivering cancer predisposition gene testing faster, cheaper and better than before by harnessing new DNA sequencing technology. To do this, we designed and developed the TruSight Cancer Panel (TSCP) in collaboration with Illumina. TSCP is now in use by many labs and is bringing affordable, accurate cancer predisposition gene testing to cancer patients and their relatives throughout the world.

Removing access barriers

We have developed a streamlined, patient-centred ‘mainstream’ genetic testing pathway for cancer patients that brings testing to the patient, in their routine cancer clinic, but retains the expertise of genetics for the patients that require it. The pathway is 5x faster and requires 13x fewer resources than the traditional pathway. Many units around the world are now adopting the mainstream pathway.

We have implemented TSCP testing and the mainstream pathway at the Royal Marsden hospital to deliver BRCA testing to ovarian cancer and breast cancer patients. The feedback has been very positive.

Watch the video above to hear the experiences of two patients who have gone through the pathway.