Introducing DIY steps to genetic testing could catch more BRCA-linked cancer cases

It’s been 30 years since the discovery of the first BRCA gene, with BRCA2 being discovered only a year later. Finding these genes helped give scientists important insights into how some types of cancer can run in families. 

Since then, we have made huge progress in understanding how we can prevent, diagnose and treat cancers linked to faulty BRCA genes. And now, with our funding, researchers at The Institute of Cancer Research have developed a potentially more convenient way to test for faulty BRCA genes in people with breast cancer. 

What are BRCA genes? 

Despite being called “breast cancer” genes (shortened to “BRCA”), we all have BRCA genes in our healthy cells. BRCA genes contain instructions for repairing our DNA when it gets damaged.  

Around 1 in 400 people have a rare fault in these genes. People with a faulty BRCA gene have an increased risk of developing certain cancers – including breast, ovarian, prostate and pancreatic cancer.  

What does BRCA testing involve? 

Some people are eligible for a genetic test to see if they have a faulty BRCA gene, allowing them to understand one aspect of their individual cancer risk and make informed choices about their health.  

The BRCA test is sometimes offered to people who have been diagnosed with a type of BRCA-linked cancer. This is generally done shortly after diagnosis to help medical teams learn more about the type of cancer the person has and to help with decisions about the best course of treatment. If genetic testing does find a BRCA mutation, then relatives of the patient may also be eligible for testing.  

The NHS’s current BRCA testing process for people with cancer usually involves an appointment with a genetic counsellor, 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 current process can take up a lot of time which is one of the factors that limits the number of people who can be offered testing. 

“With current pressures, we are only able to offer BRCA-gene testing to around 20% of women diagnosed with breast cancer,” said 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. 

“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.” 

But that’s something that Turnbull and her team are working on. They’ve developed a new pathway, called BRCA-DIRECT, which they hope could make BRCA testing more accessible to those who need it. 

An alternative pathway to BRCA testing 

So far, the results look promising.  

In a paper published today in the British Journal of Cancer, the team have shown that offering people information about BRCA testing digitally, instead of over the phone, could be a more convenient option for people with cancer exploring BRCA testing. It could also free up capacity in the NHS, if fewer people need appointments.  

The BRCA-DIRECT study team tested two different ways of sharing information about BRCA testing among 1140 people diagnosed with breast cancer who had not had any test for a BRCA mutation.  

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

The researchers found 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. Both methods scored similarly when looking at patient knowledge about genetic testing, patient anxiety and patient satisfaction.  

“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,” said Bethany Torr, Scientific Programme Manager in Cancer Genetics and Epidemiology at The Institute of Cancer Research, London, and lead author of the study. 

To further improve the BRCA testing process, the BRCA-DIRECT team are also exploring the use of an at-home saliva test instead of the blood tests typically used in BRCA testing. 

A patient’s perspective 

One of the potential benefits of this alternative BRCA testing pathway is that patients can do all the steps for the test at home, instead of having to go to an in-person hospital appointment.  

That’s something that Amy Louvre from Manchester, who took part in the study, appreciated. 

“After being diagnosed with breast cancer I had to deal with multiple scans, treatment decisions and anxious waits for results,” said Amy. 

“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 risk of developing cancer.  

“I hope more people can access BRCA testing through initiatives like the BRCA-DIRECT pathway.” 

BRCA testing as a tool for preventing cancer  

While testing for faulty BRCA genes in people diagnosed with cancer helps provide more information about their type of cancer and treatment options, in some cases it can help relatives of those people learn more about their individual risk of cancer so they can make informed choices about their health.  

In certain circumstances, people who find out they have a faulty BRCA gene who haven’t yet been diagnosed with cancer will then be able to consider if they want to take preventative steps like taking medicines or having surgery to reduce their risk of developing BRCA-linked cancers. Some people will also be eligible for earlier and more frequent breast cancer screening. 

“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,” said David Crosby, Head of Prevention and Early Detection at Cancer Research UK. 

“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 trialled further across the NHS.” 

While the thought of finding out you have a faulty BRCA gene may seem scary, since the discovery of the BRCA genes 30 years ago, Cancer Research UK has made huge leaps forward in understanding faulty BRCA-driven cancers – leaps that are saving and improving lives right now​.