Making gene testing for cancer patients part of routine care

A cancer patient’s genetic make-up holds vital information that can be used to improve their clinical management and can guide strategies to reduce cancer risk for their relatives.

Given these benefits, we are striving to make testing for cancer predisposition genes part of routine patient care.

More than 100 cancer predisposition genes have been identified — notably BRCA1 and BRCA2, which increase the risk of breast and ovarian cancer and can have an impact on which treatment is most effective for an individual.

The current eligibility requirements for genetic tests were developed for healthy individuals with a family history of cancer who are referred to clinical geneticists to discuss their risk of future cancers.

The needs of patients who have already been diagnosed with cancer are very different. The question is, can the NHS develop effective services to widen access and deliver gene testing for patients in an affordable and timely manner?

Innovative approach

Our ambitious Mainstreaming Cancer Genetics programme — led by the ICR in partnership with The Royal Marsden NHS Foundation Trust with funding from its National Institute for Health Research Biomedical Research Centre and the Wellcome Trust — is developing new technologies and care pathways to provide testing for cancer predisposition genes.

This innovative approach will allow rapid, low-cost gene testing, helping us to widen access.

In collaboration with Ilumina, for example, we have developed TruSight Cancer, a single test that can identify mutations in 100 genes associated with cancers. We are also improving processes and clinical infrastructure so that gene testing can be included as part of standard cancer care.

The Royal Marsden has already implemented our model for BRCA testing in breast and ovarian cancer patients. Testing is done through routine oncology appointments, with results ready in two to four weeks to help inform treatment decisions.

Significant progress

Anyone who tests positive for a BRCA mutation is automatically sent an appointment with the genetics team to discuss the result. As well as being more flexible and patient-centred, this is faster and cheaper than traditional pathways and has allowed the hospital to provide more testing without increasing costs to the NHS.

Our approach has already set a benchmark for access to gene testing. A number of NHS gene testing services have used our freely available resources to implement their own models, while AstraZeneca has begun an international study that is trialling our mainstream model in the USA, Spain and Italy.

We have made significant progress in increasing access to gene testing and are now expanding into new genes and new cancers.

• Read more about the Mainstreaming Cancer Genetics programme