This blog is the fifth in a series exploring the achievements of Breast Cancer Campaign and Breakthrough Breast Cancer as both charities work towards launching as one brand new charity.

Tuesday 28 April 2015      Policy and Campaigns blog
Changing the policy on genetic tests for breast cancer

The last post looked at the achievements of our work encouraging women to Touch, Look, Check. This blog showcases our efforts to ensure that the evidence behind genetic testing for breast cancer risk has been used to inform health policy in the UK.

Inherited breast cancer

About 50,000 women a year in the UK are diagnosed with breast cancer, meaning that on average women have a one in eight lifetime risk of developing the disease. We know that a combination of our genes, lifestyle and surrounding environments play a role in causing breast cancer, but in some families breast cancer occurs more frequently than would be expected in the general population.

About 10,000 women diagnosed with breast cancer each year will have a family history of the disease. Of these, around a quarter – or 2,500 women each year – will have inherited faults in known breast cancer genes including BRCA1 and BRCA2. Women who have a mutation in these genes have up to an 85% chance of developing breast cancer in their lifetime.  Thanks to research into the genetics of breast cancer there is now a test available that can identify women with faults in breast cancer genes that put them at an increased risk of the disease.

A greater chance of developing breast cancer

Additionally, around 5,000 to 7,500 women who are at “moderate risk” due to their family history go on to develop breast cancer each year in the UK. These cases may be due to genetic factors with a weaker impact on risk. It is important to remember that while having a BRCA mutation or a significant family history of breast cancer does increase your risk, it does not mean you will definitely get breast cancer. However, it does mean that you have a greater chance of developing breast cancer than someone who is at “normal” risk.

Turning research into policy

Over the past decade we have been heavily involved in ensuring that our growing knowledge of the genetic element of breast cancer translates into improved services and care.

In 2003, the Department of Health (DoH) published a paper setting out that the maximum wait for the results of a genetic test should, at most, be either two or eight weeks, depending on the type of test taken. However, our own research discovered that people were waiting many months – and in some cases years – for their results. This was causing a great deal of distress and meant that people were making decisions, such as whether or not to have risk-reducing surgery, without knowing whether they had in fact inherited a faulty gene that increased their risk of breast cancer.

In response, we launched a campaign in 2006 called Testing Times, which aimed to address the failure to meet the DoH guidelines. Our campaign resulted in these waiting times being reduced to their recommended targets.

Influencing NICE

One of the most important documents outlining how healthcare services for people with a family history of breast cancer should be run is the NICE (National Institute of Health and Care Excellence) Clinical Guidelines for Familial Breast Cancer

In 2013 we were asked to chair the group charged with updating the guidelines and we ensured that the voices of those impacted by the guidelines were heard by providing two patient representatives. Through this work, the difference we’ve made to the care of people with a family history of breast cancer has been significant. Here’s how:

  • There is evidence that some drugs (tamoxifen and raloxifene) can reduce the likelihood of women at high and moderate risk of breast cancer developing the disease. The updated NICE guidelines recommended for the first time that these women should be offered these drugs. 
  • Previously, women with at least a 20% chance of having a BRCA mutation could be offered testing for a mutation, but only when a member of their family who had already had breast cancer was available and prepared to be tested first. The new updates mean that individuals now have access to genetic testing even where they have no family member to be tested first. Also, the threshold for testing has been lowered to a 10% chance of a BRCA mutation, ensuring more women at increased risk can benefit.

Following the release of the updated guidelines, we published our family history services guide. We believe that everyone with a family history of breast cancer should have access to information about their options.

What we want next

Behind the scenes we are pushing for the recommendations in the updated NICE guidelines to be implemented across the UK (currently they only apply in England and Wales). This includes influencing work to get the latest research findings reflected in national guidelines – for example, research has shown that drugs called aromatase inhibitors could be a useful alternative to tamoxifen or raloxifene for chemoprevention in post-menopausal women and we would like to see these considered in any future NICE updates of the family history guidelines.   We are also involved in research looking at whether GPs should proactively identify women at higher risk due to their family history, and working with others to best deliver services for women in this group.

As we enter an exciting new chapter in the history of both our charities, we hope that our influence will continue to grow, so that we can have the biggest possible impact on healthcare for everyone affected by breast cancer.

Dr Natasha Dare – Senior Policy Officer