I had my breasts removed to prevent cancer after taking a test the NHS would never have given me

The test itself was simple. It involved providing a saliva sample, spitting into a tube, which was then analysed for inherited cancer risk genes. At the time, I was in good health, had no symptoms of any disease and no knowledge of any significant genetic risk within my family, so I wasn’t particularly concerned.

Yet when the results came back, I was shocked to learn that I carry the PALB2 mutation, a high-risk gene linked to breast cancer. My chances of developing the disease that kills over 11,200 women a year were extraordinarily high.

I was 40 at the time, and the thought of leaving my two young daughters, still in primary school, horrified me.

But the test gave me something I didn’t have before: a choice. Rather than ‘watch and wait’, I decided to have a preventative double mastectomy, reducing my risk of developing breast cancer by around 95 per cent.

It is not an easy decision for any woman to make. But it allowed me to take control, and it gave me reassurance about the future. The experience has fundamentally changed how I think, both as a doctor and as a parent.

What I find most unsettling, however, is that had I not chosen to take that private test, I would almost certainly never have known I was carrying this high-risk gene under current NHS criteria.

Eligibility for genetic testing in the NHS is complex and heavily dependent on family history. In practice, this makes it difficult for even experienced GPs to identify who should be referred, particularly in a busy clinical setting.

Typically, patients are referred for further assessment only if they meet specific criteria. This includes, for example, having a first-degree relative diagnosed with breast cancer under the age of 40, multiple close relatives affected, or a combination of breast and ovarian cancers within the family.

Even then, patients undergo further risk assessment using prediction models. To qualify for NHS-funded genetic testing, the calculated likelihood of carrying a BRCA mutation generally needs to exceed 10 per cent.

In my case, despite some family history, a grandmother on my father’s side and an aunt on my mother’s side having had breast cancer, my estimated risk would have been around 5 per cent. That falls below the threshold. I would not have been eligible.

This is the reality for many people. Around half of those with high-risk cancer gene mutations are missed because they do not meet current testing criteria.

Family history is not always a reliable indicator. Patterns can be less obvious on the paternal side, and sometimes individuals simply do not live long enough to develop cancer, masking the underlying risk.

The absence of a strong family history does not mean the absence of risk. In fact, fewer than five per cent of people carrying high-risk cancer gene mutations are currently aware of it.

It does not need to be this way.

The cautious approach to testing made sense when genetic analysis was expensive and slow. But today, things have changed dramatically. Comprehensive genetic screening, including panels covering around 35 cancer-related genes, can cost around £650, including consultations and laboratory analysis, with similar pricing available across multiple providers.

With this knowledge, patients are no longer limited to reactive medicine. They can make proactive, informed decisions to reduce their risk.

Take Lynch syndrome, for example, the most common inherited cause of bowel cancer, which is the fourth most common cancer in the UK. It can be readily identified through genetic testing, and those affected can be offered enhanced screening that significantly reduces mortality.

Genetic testing also has a critical role for patients already diagnosed with cancer. Too often, they face delays waiting for specialist genetics appointments while navigating complex treatment pathways. Earlier access to testing could help unlock targeted, more effective treatments sooner.

Expanding access to genetic testing is not a distant ambition. It is a practical, evidence-based step that could save lives now, reduce pressure on the NHS, and give families the opportunity to act before it is too late.

We have the science. Now we must apply it.

We should not be waiting for cancer to appear if we have the tools to predict it in advance.

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Dr Lucy Hooper is a GP at Coyne Medical.

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