Offer gene tests to more breast cancer patients, says experts

The ICR and The Royal Marsden are helping to make genetic testing a part of routine cancer care through the Mainstreaming Cancer Genetics programme


people were identified as having faulty BRCA genes after a total of 1,020 people were deemed eligible for genetic testing under new, simpler criteria

Researchers are recommending new, simpler criteria for determining breast cancer patients’ eligibility for genetic testing, based on information that is routinely available at diagnosis, such as their age and sex.

Identifying if a breast cancer is due to a BRCA gene mutation is vital to selecting the right treatment, and could help widen access to new precision drugs that are designed to target these faulty genes. It also gives the relatives of patients with the mutation the opportunity to be tested for an increased risk of cancer before they get the disease, enabling them to take preventive steps.

The National Institute for Health and Care Excellence (NICE) recommends that anyone with a 10 per cent chance of having a BRCA mutation should be offered genetic testing. But doctors need to apply complex criteria, based on a person’s family history of cancer, to work out who reaches this threshold.

In a new study, funded by the NIHR BRC at The Royal Marsden and the ICR, the team applied five simple criteria to help decide who should be tested. Some 1,020 people who met the new criteria were tested as part of the study, with 110 identified as having BRCA faults. If the existing family history criteria had been used, only 53 patients would have been tested – so half of those with mutations would have been missed.

The study shows that bringing BRCA gene testing into the cancer patient pathway and using simple criteria is more patient-centred and effective, and a more efficient use of NHS resources, than existing practice. It allows more cancer patients to benefit from precision medicines, and helps to prevent cancer occurring in healthy people. We are now working with other centres in the UK, Europe and the USA to roll out the new system.