Simplifying access to BRCA gene testing improves treatment and could save lives

Today, the journal Scientific Reports published our article that describes the results of a pilot study in which 207 ovarian cancer patients at The Royal Marsden NHS Foundation Trust were offered a BRCA gene test as part of their regular cancer clinic appointment.

As well as offering a streamlined patient journey, this testing pathway is less resource intensive and, if it was implemented nation-wide, could save the NHS millions of pounds each year. As the article shows, all 207 women who took part in the pilot study accepted the offer of a genetic test, and provided very positive feedback. Within the test group, 32 patients were found to have a BRCA mutation, and became eligible for new precision medicine treatments that are only available to patients with a BRCA mutation.

To be able to offer the genetic test in the cancer clinic, doctors and nurses completed our 30-minute online training module. If a patient was found to have a BRCA mutation, they received an appointment with the genetics team together with their result, so that they could discuss the implications in more detail. In many cases, family members of these patients also saw a geneticist to discuss and decide whether to have a test to see if they had inherited the BRCA mutation. Relatives that have a BRCA mutation have various options available to them to improve early detection or prevention of cancer. Relatives that do not have a BRCA mutation can be spared these.

This pathway is now the standard at The Royal Marsden, and is being adopted at other hospitals in the UK and internationally. If it were implemented across the NHS, the savings in genetic appointments are estimated to save £2.6M per year compared with the current standard process.

In a companion study we found that the new approach to genetic testing was extremely cost-effective. If all 7,000 women diagnosed with epithelial ovarian cancer in the UK each year were offered genetic testing, just a single year’s testing is likely, over time, to prevent hundreds of breast and ovarian cancers and dozens of deaths in their relatives. National implementation for all ovarian cancer patients would cost £4,339 per quality-adjusted life year – far below the £20,000 threshold that is used to decide what tests and treatments the NHS should offer.

Most importantly, patients have been overwhelmingly positive about the new testing pathway, which reduces the number of appointments they need and the time it takes to get the test result.

The Mainstreaming Cancer Genetics programme is very pleased that this work has been so successful and has already helped so many people. We are now working hard to make the new pathway available to all ovarian cancer patients across the country and piloting the model for other cancers.


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