New genetic testing pathways could ensure patients get personalized BRCA-linked cancer treatments microbiologystudy

Scientists have developed a new clinical pathway for testing for the cancer-causing faults in the BRCA gene that could ensure patients get the right treatment and boost the number of people who get tested.

The researchers, from The Institute of Cancer Research, London, showed that offering people information about BRCA testing digitally, instead of during a clinical appointment, could be a more convenient option for participants exploring BRCA testing. It could also free up capacity in the NHS.

Targeted treatments for BRCA-related tumors

We all have BRCA genes, which contain instructions for repairing our DNA when it gets damaged. About 1 in 400 people inherit a fault in these genes. Those with a faulty BRCA gene have an increased risk of developing certain cancers—including breast, ovarian, prostate and pancreatic. Once cancers do develop, BRCA-related tumors can be treated with specific treatments.

The NHS’s current BRCA testing process usually involves an appointment with a genetic counselor, doctor or nurse to discuss what the process involves and the implications of finding a mutation. The patient then decides if they want to go ahead with genetic testing. This process can take up a lot of time and limits the number of patients who can be offered testing.

Offering digital information

The BRCA-DIRECT study, carried out by The Institute of Cancer Research (ICR), tested two different ways of sharing information about BRCA testing among 1,140 people diagnosed with breast cancer who had not already been tested for a BRCA mutation.

The first method was the conventional route involving a formal phone appointment with a genetics clinician, while the other method involved patients receiving digital information to read on their own time, with the option of calling a genetic counseling hotline if they had any further questions.

The findings, published in the British Journal of Cancer, showed that 91% of people who were offered the digital information and hotline method went on to have the BRCA test, compared with 85% of those who were given a dedicated telephone appointment, deeming each method as good as the other.

Both methods were also deemed equally good when looking at patient knowledge about genetic testing, patient anxiety and patient satisfaction.

Professor Clare Turnbull, Professor of Translational Cancer Genetics at The Institute of Cancer Research, London, and Consultant in Clinical Cancer Genetics at The Royal Marsden NHS Foundation Trust, said, “With current pressures, we are only able to offer BRCA-gene testing to around 20 percent of women diagnosed with breast cancer. Despite the progress made since the initial discovery of the BRCA genes 30 years ago, we still face huge challenges in achieving the basic goal of ensuring everyone living with this mutation knows they have it.

“We will continue to work through the BRCA-DIRECT program to make BRCA testing more accessible to all who need it.”

Bethany Torr, first author of the research paper, Scientific Program Manager in Cancer Genetics and Epidemiology at The Institute of Cancer Research, London, said, “Many people do not know they live with a BRCA mutation, and therefore may not know the steps they can take to reduce their risk of developing certain cancers. We are pleased that our alternative BRCA-DIRECT pathway appears to work as well as patient hospital appointments, offering patients the additional flexibility of processing information about BRCA testing in their own time.”

The patients involved in the study were receiving treatment for breast cancer from The University of Manchester University NHS Foundation Trust and The Royal Marsden NHS Foundation Trust.

The BRCA-DIRECT team is also exploring the use of an at-home saliva test instead of the blood tests typically used in BRCA testing, again designed to improve access to BRCA testing while also freeing up capacity in the NHS.

‘I was glad I could do this from home’

Amy Louvre from Manchester, who took part in the study, said, “After being diagnosed with breast cancer I had to deal with multiple scans, treatment decisions and anxious waits for results. When being tested for a BRCA mutation, I was glad I could do this from home, via a telephone appointment and a DIY saliva test. It was a smooth and straightforward process.

“The test found I did not have a BRCA mutation, which meant my family and I could breathe a small sigh of relief about that aspect of our family’s risk of developing cancer. I hope more people can access BRCA testing through initiatives like the BRCA-DIRECT pathway.”

Cancer Research UK’s Head of Prevention and Early Detection, David Crosby, said, “It is vital that we do more to catch cancer earlier and prevent cases where possible. Offering genetic testing to relevant groups of people affected by cancer is part of this work.

“We are pleased that the BRCA-DIRECT pathway demonstrates an innovative way to open up BRCA testing to more people, and we look forward to hearing the progress of this initiative as it is trialed further across the NHS.”