01 — How common are gene mutations in cancer genes

About 1 in 400 people for example have a mutation in the most common breast cancer risk genes, BRCA1 or 2. If you have had cancer, a family history or come from an Ashkenazi Jewish background the chance might be much higher. You can inherit a mutation from either a mother or father.

02 — How does the NHS decide who is tested

‘Predictive genetic testing’’ is when healthy people have a test to see if they carry a mutation when they are healthy i.e. they do not have a diagnosis of cancer. Currently testing for healthy people is heavily restricted in the NHS. Testing is usually only available in hospital clinics. The current NHS guidelines are that someone has to have at least a 10% chance of testing positive to get the test. You have to have a very strong family history to qualify for this. Read more here on my story and how I didn’t meet the NHS criteria.

People who have a family history and are worried can see their GP. If your family history meets the high-risk criteria they may refer you to a genetics clinic. Most clinics will then ask you to complete a detailed family history questionnaire by post or telephone. The details of your family history will be used to work out how likely it is that you will find positive results i.e. you carry a harmful mutation. The NHS recommends testing for people who have a 10% or greater chance of having a mutation. If you have a living relative with breast or ovarian cancer usually they will offer them testing first before testing a healthy person.

03 — Why more people could benefit from genetic testing

Many people who meet the criteria are not yet being tested. Despite BRCA testing being offered in the UK NHS for over 25 years over 97% of carriers in London have not yet been identified.

There are lots of reasons why people might not fit the NHS criteria to be tested. If you come from a small family or you inherit the mutation from your father it is much less likely you will tick enough boxes to qualify for testing. Currently, even women with a diagnosis of breast cancer do not always qualify for genetic testing. Even if EVERY person who met the NHS guidelines was tested over 50% of people carrying a harmful cancer gene mutation would be MISSED.

04 — Population-based genetic testing

There is an enormous opportunity to expand testing. Saliva-based DNA testing is fast, accurate, and gets more cost-effective every year.

Many hospitals are expanding access to testing for women with breast cancer. The BRCA-Direct study in London and Manchester is doing great work to show how more women with breast cancer can be tested.

Population-based testing means offering tests to all people. There is excellent scientific evidence showing that this approach could save over 50,000 cases of breast cancer in the UK. Reducing breast cancer will save lives. Even women diagnosed with early-stage breast cancer still have an almost 30% chance of metastatic breast cancer. The treatment of metastatic breast cancer is getting better but still over 30 people a day die in the UK from metastatic breast cancer, every single day.

I think that genetic testing is a really important part of how we can change those statistics. I hope I can play a small part in encouraging more women to test, more doctors to think about it and the government to allow more women the power to reduce their chance of breast cancer.

05 — It’s not all about your genes

It is important not to forget that not all cases of breast cancer are due to genetics. We all need to be aware of the symptoms of breast cancer, yes guys too. The ‘Know Your Lemons’ website has brilliant memorable guides to symptoms to watch for. You can’t change your genes, though knowing about them can give you enormous power, there are some things you can change. Risk factors for breast cancer that you can manage in your everyday life include maintaining a healthy weight, keeping active, eating well, reducing alcohol intake, and not smoking. Pregnancy and breastfeeding can also impact your risk. Hormones like those in the contraceptive pill and hormone replacement therapy (HRT) can increase your breast cancer risk but other factors such as weight and alcohol use are often a bigger concern.