Thousands of people will be tested for a genetic condition that raises the risk of cancer by up to 80 per cent.
A new NHS testing programme will target Lynch syndrome, an inherited condition that increases the risk of certain cancers, including bowel, ovarian and pancreatic.
It is estimated that 1 in 400 people have the condition – the equivalent to around 175,000 people – but just 5 per cent are aware they are living with the condition.
Health officials hope that the blood test, which is being offered to people diagnosed with bowel and endometrial cancer and their families, will find those at risk.
They estimate the service will test around 50,000 people a year, saving hundreds of lives.
Stars including Benedict Cumberbatch pushed for testing for Lynch syndrome
Patients with the condition can be offered more targeted treatments, while relatives can be referred to genetic services to discuss regular cancer screening options or undergoing risk-reducing surgery.
NHS chief executive Amanda Pritchard said: ‘This cutting-edge genetic test is helping to identify thousands of people who are living with Lynch syndrome – meaning we can work with them to reduce their risk of cancer and provide more personalised and effective treatment if they do need it.
‘Throughout its 75-year history, the NHS has been a world leader in embracing science and innovation to transform patient care.
‘Our increasing use of genetic testing and genomic medicine is another example of this, as the NHS continues to make the latest, most innovative tests and treatments available for patients across the country.’
Around 1,100 bowel cancers are caused by Lynch syndrome each year in England, which is thought to increase the lifetime risk of developing bowel cancer by around 80 per cent.
It is also linked to a risk of people developing multiple cancers during their lifetime and often at a younger age than would be typically expected.
The NHS is now able to identify the condition through a blood test, giving doctors a better chance of tackling it.
Dr Kevin Monahan, consultant gastroenterologist and Lynch syndrome specialist at St Mark’s, The National Bowel Hospital, said: ‘This benefits people with a diagnosis of cancer by improving access to more effective and precise treatments, and for their families who might otherwise be at risk of cancer.’
Dr Lisa Wilde of Bowel Cancer UK, said: ‘It’s a huge step in the right direction that more people are being tested for Lynch syndrome.
‘This important announcement means that those who haven’t got bowel cancer but positively test for Lynch syndrome can be offered regular check-ups to reduce their risk of the disease in the future, and those who are already diagnosed with bowel cancer are offered effective treatment to save more lives from the disease.’
One person who believes being diagnosed with Lynch syndrome saved their life is 29-year-old Charlie Grinstead.
Charlie was diagnosed with bowel cancer in March 2020, shortly after his wedding and starting a new job. The cancer did not respond to surgery and chemotherapy and continued to grow, with the likelihood of survival looking increasingly slim.
But thanks to the NHS using genomic testing, doctors were able to confirm a diagnosis of Lynch syndrome in July 2020, which opened up new treatment options for Charlie.
Two years later, and he is in complete remission. His doctors have asked he stop treatment and have quarterly scans – the first was this year and was still all clear.
Charlie said: ‘It feels crazy, it never really felt real when I got a cancer diagnosis in March 2020 and feels weird to end it now – it has been an absolute whirlwind over these past two to three years.
‘It was an emotional rollercoaster of having surgery and then the worsening side effects and decreasing effectiveness of chemotherapy, but then having genomic testing, being diagnosed with Lynch syndrome and receiving the immunotherapy changed everything.
As a result of his diagnosis, Charlie’s family have also been tested for the genetic condition, with his mother – who herself had cervical cancer in her 30s – also being shown to have Lynch syndrome.
Doctors were able to catch her breast cancer early and after successful treatment she is now doing well.
Revealed: Everything you need to know about Lynch syndrome
Lynch syndrome (LS) is a condition that can run in families. It is also known as hereditary non-polyposis colorectal cancer (HNPCC).
It is caused by an alteration in a gene called a mismatch repair gene. Carriers do not have any symptoms.
But people with the syndrome have an increased risk of developing bowel, womb and ovarian cancer.
If your family has a history of developing these cancers when they are under 50 years old, it is possible they have the altered gene that causes LS.
Bowel cancer that doesn’t run in families usually develops in people over 50. But for people with LS, bowel cancer usually develops between the ages of 40 and 50 or younger.
Being aware of your normal bowel habits is important, particularly if you have or think you may have LS.
Be aware of:
Blood on or in your stools (poo).
Diarrhoea, constipation or another change to your bowel habit that lasts longer than six weeks and has no obvious reason.
Unexplained weight loss.
Pain in the tummy or back passage.
A feeling of not having emptied your bowel properly after you go to the toilet.
Source: Macmillan