We, along with other leading clinical experts, are calling for the Bowel Cancer Screening Programme to extend its service to include people with Lynch syndrome. We don’t need to reinvent the wheel, the programme already runs to a very high standard with strict waiting times to test healthy people aged 60+ for early signs of bowel cancer. We can use the mechanisms already in place to make sure people with Lynch syndrome are seen on time with the same high quality care.
It’s incomprehensible that a robust and organised programme is made available for people at average risk but not for those at high risk of bowel cancer.
Ultimately, the buck must stop with the UK’s health ministers – call on them to stop cancer devastating families with Lynch syndrome
Read the letter to the BMJ here
Professor of Clinical Genetics
Bowel Cancer UK, Willcox House, 140-148 Borough High Street, London, SE1 1LB
Anyone diagnosed with bowel cancer should be tested for the inherited genetic condition Lynch syndrome, recommends the National Institute for Health and Care Excellence (NICE) in draft guidance issued today. We have worked with NICE to develop these new guidelines.
Lynch syndrome is the most common cause of hereditary bowel cancer and those affected run an increased risk of developing womb, ovarian and stomach cancer, among others.
Lynch syndrome accounts for approximately 3.3% (1 in 30) of bowel tumours, and is estimated to lead to over 1,100 colorectal cancers a year in the UK. An estimated 175,000 people in the UK have the syndrome, a large proportion of whom will be unaware that they have it.
Microsatellite instability (MSI) testing or immunohistochemistry should be used to detect abnormalities that might indicate the presence of the syndrome, recommends NICE.
If the result indicates abnormalities, further tests should be carried out to confirm the diagnosis. Diagnosing Lynch syndrome may also help guide choice of treatment for bowel cancer says NICE.
Testing everyone with bowel cancer will increase detection of the syndrome and identify families who could benefit from genetic testing for the condition. This could lead to closer monitoring and consequently better outcomes through earlier diagnosis and treatment, says NICE.
“While these tests have been available for a while, the committee heard that there is currently wide variation in the provision of testing for Lynch syndrome and other inherited colorectal cancers,” commented Professor Carole Longson, director of the centre for health technology assessment at NICE.
People with the syndrome who develop bowel cancer generally do so between the ages of 40-50 or younger.
However, said Professor Longson: “It is estimated by Bowel Cancer UK that only 50% of centres provide tests to assess the risk of Lynch syndrome in people diagnosed with colorectal cancer under the age of 50.”
She added: “The committee concluded that using these tests to assess the risk of Lynch syndrome in all patients diagnosed with colorectal cancer could have substantial benefits for patients and their families.”
Deborah Alsina, Chief Executive, Bowel Cancer UK, agreed: “We hear every day how generations have been affected by cancer because of this genetic condition. By testing everyone diagnosed with colorectal cancer we can identify more people who have [it] and ensure they receive regular colonoscopy, which can reduce their chance of dying from bowel cancer by up to 72%.”
The consultation on the draft guidance runs until 11 November 2016.
Half of NHS authorities in England, Scotland and Wales do not currently test bowel cancer patients under 50 for possible Lynch syndrome.
A Freedom of Information (FOI) request by leading charity Bowel Cancer UK has highlighted a wide variation in tests for Lynch syndrome in bowel cancer patients under 50. Lynch syndrome is an inherited condition which can mean a higher risk of developing bowel cancer. Testing for Lynch syndrome will help identify family members who may have the condition and be at risk of bowel cancer. It can also affect treatment options. Lynch syndrome testing has been shown to be cost effective for the NHS, and is a required reflex test mandated by the Royal College of Pathologists and recommended by the British Society of Gastroenterologists.
Despite this testing is patchy. Just half of the hospital trusts in England that responded to the FOI request said they conduct tests among bowel cancer patients under 50 for Lynch syndrome, 10 of the trusts saying they had no plans to do so.
It’s not just England hospital trusts that are falling short. More than half of health boards in Wales do not screen patients under 50 with bowel cancer. In Scotland fifty per cent of health boards currently do not follow the guidelines for Lynch syndrome testing set in July last year by the Royal College of Pathologists. It’s a brighter picture in Northern Ireland where all health and social care trusts responded to say that they perform the test to identify possible Lynch syndrome patients.
The approach to testing is also widely varied among those hospitals which do screening for bowel cancer patients under 50. Testing is part of the core dataset for pathologists and should therefore be carried out automatically (known as reflex testing) for this group of young patients. However many trusts/health boards do not yet carry out this “reflex testing,” as stipulated in the Royal College of Pathologists’ guidelines. Scotland is in the process of developing a nationwide approach to testing. We believe a nationwide approach would provide the consistency needed to ensure all bowel cancer patients under 50 are systematically tested.
Bowel Cancer UK submitted the FOI request in November 2014 to every NHS trust in England, health board in Scotland and health and social care trust in Northern Ireland to establish the number of trusts/health boards which were implementing the testing for all bowel cancer patients under 50, as mandated by the Royal College of Pathologists. Lynch syndrome is responsible for around one in 12 cases of bowel cancer in people aged under 50.
Dr Suzy Lishman, President of the Royal College of Pathologists, said, “This research is encouraging as it shows that our guidelines may have had some impact already on testing for Lynch syndrome in patients diagnosed under the age of 50. However, there is considerable variation in the approach to testing. Testing is now mandated by the Royal College of Pathologists as part of the core dataset for pathology and is a required reflex test for this group of young patients. We would urge all trusts to perform the screening test for Lynch syndrome in bowel cancer patients under 50 and to adopt a more consistent approach to the testing.”
Deborah Alsina, Chief Executive of Bowel Cancer UK said, “We welcome the fact that some trusts and health bodies have implemented this guidance, but it is concerning that variation still remains. The disparity between hospital trusts and health boards in England, Wales and Scotland is even greater than we anticipated.”
“It’s crucially important that all bowel cancer patients under 50 are offered genetic testing at diagnosis as it could affect both surgical and chemotherapy decision making. Yet currently it is normally done after treatment has ended, if at all. Not only that, but appropriate surveillance needs to be arranged as patients with Lynch syndrome are at greater risk of recurrence. Additionally, as Lynch syndrome is a genetic condition, it can have implications for other family members who may be at risk of developing bowel cancer so family members should also be tested to identify any others with the condition.”
Andy Sutton, the father of teenager Stephen Sutton who sadly died last year from bowel cancer, is all too aware of the need for systematic Lynch syndrome testing. Andy was diagnosed with bowel cancer twice – in 1989 at the age of 31 and 20 years later in 2009. It was only second time round that Andy was tested for Lynch syndrome, which was inherited by his son, Stephen.
Andy said, “If I had been genetically tested after the first diagnosis and given regular surveillance screening, it might have been possible to have prevented bowel cancer developing second time around. That’s why I’m supporting Bowel Cancer UK’s call for everyone under the age of 50 who is diagnosed with bowel cancer to have testing for Lynch syndrome, it had a tragic impact on our family and I want to save others from going through the same experience.”
Dr Kevin Monahan, Consultant Gastroenterologist and General Physician, Family History of Bowel Cancer Clinic, West Middlesex University Hospital says: “Anyone under 50 who is diagnosed with bowel cancer is eligible for testing but it is not always offered. In the first instance, discuss testing for Lynch syndrome with your consultant or your GP”
Bowel Cancer UK is calling for urgent action to be taken:
1. We would urge NHS England and Wales to adopt a similar approach to NHS Scotland and establish a nationwide initiative to ensure a consistent, systematic approach to screening for Lynch syndrome as mandated by the Royal College of Pathologists.
2. All CCGs must commission to reflect the RCPath cancer dataset thus ensuring providers are compliant with this cancer dataset.
3. Accreditation of pathology departments should be linked to compliance with the core minimum dataset which may be used as a metric.
A personal DNA test that has sparked controversy in the US has been approved for use in the UK by regulators.
The Medicines and Healthcare Products Regulatory Agency (MHRA) says the 23andMe spit test, which is designed to give details about a person’s health risks based on their DNA, can be used with caution.
But critics say it may not be accurate enough to base health decisions on.
The company, California-based 23andMe, stands by its test.
Backed by Google, the firm offered US customers details of health risks based on gene variants they carry.
But in November 2013, the US Food and Drug Administration (FDA) banned the company from marketing its service in the US, claiming 23andMe had failed to provide adequate information to support the claims it made about results.
A month later, the company stopped offering genetic tests related to health.
An MHRA spokesperson said it regulated such tests in the UK to make sure they met minimum standards.
23andMe’s mission is to ensure that individuals can personally access, understand and benefit from the human genome”
Anne Wojcicki Chief executive, 23andMe
“People who use these products should ensure that they are CE marked and remember that no test is 100% reliable so think carefully before using personal genome services.
“If after using the service, you have any questions or concerns you should speak to your healthcare professional.”
She added: “If you are concerned that you have an incorrect result due to a faulty product, you can report this to MHRA at email@example.com or 020 3080 7080.”
The UK Department of Health said it was behind the idea of using gene tests to guide patient care within the NHS, but echoed the MHRA advice on giving careful consideration before opting for services like the one offered by 23andMe.
23andMe chief executive Anne Wojcicki said: “The UK is a world leader in genomics and we are very excited to offer a product specifically for UK customers.”
Ms Wojcicki is separated from but still legally married to Sergey Brin, the co-founder of Google – which has invested millions in 23andMe.
The company had previously offered results on a customer’s risk for 254 diseases and conditions, including identifying genes linked to heart disease and breast cancer. There was also information on how individuals might respond to certain medicines.
Genetic testing is an important medical tool in certain situations, but for healthy people as a way to predict common complex diseases, it’s pretty useless”
Dr Marcy Darnovsky Center for Genetics and Society
But the FDA said the reliability of such tests had not been proven to its satisfaction. It was also worried that some customers could make life-changing decisions based solely on their results.
The UK Department of Health said the product launched in Britain was very different to the service halted by the US regulator.
“Many of the drug responses, inherited conditions and genetic health risks that were of concern in the US have been removed,” a spokesperson told BBC News.
In October, 23andMe said it would sell kits in Canada – these too contain only a handful of health-related results.
“I think a large part of it is trying to expand their markets,” said Professor Hank Greely, director of the Center for Law and the Biosciences at Stanford University in California.
“They may also want to make it clear to the public, to their investors, to their employees that they’re alive and kicking.”
‘Understandable concern that this type of genetic testing’
23andMe said it does not share the genetic data with insurance companies or any other interested party without a person’s explicit consent.
“The science is soundest behind 23andMe’s ancestry reports, which are good, but the majority of the rest of the reports are generally based on very small shifts of risk, which are better served by simply living healthier and getting more exercise,” said Dr Ewan Birney – associate director of the EMBL-European Bioinformatics Institute in Cambridge and unconnected with 23andMe, although he has used one of its kits.
“Despite 23andMe’s careful use of language and explanation, there is an understandable concern that this type of genetic testing could cause inappropriate harm simply through people worrying excessively or becoming neurotic over these small increases in risk.”
In the UK, 23andMe is not the first to launch genetic testing. The NHS’s 100,000 genome project conducts full genome sequencing as opposed to genotyping, whichcompares common differences in known genes. The NHS’s project, which is set to complete its pilot stage by 2017 as part of analysing how best to use genomic data in health care, is “world leading”, said Birney.
“This government is developing the use of genomics for patient care within the NHS,” a Department of Health spokesperson said. “We welcome initiatives that help to raise awareness of genomics and those which enable people to take more interest in their personal health but we urge people to think carefully before using private genomic services as no test is 100per cent reliable.”
“For the curious and the scientists, 23andMe is fine, it’s fun and you can have a ball with your ancestry, but for the general population the NHS is truly working out how best to use this in a way that is world leading,” said Birney. “If you’re waiting for the technology to catch up with you, the NHS will deliver.”
What’s the plan?
Dr Marcy Darnovsky, executive director of the Center for Genetics and Society in California, said the UK and Canadian launches could be a way of placing pressure on the FDA by demonstrating that regulators in other countries found no fault with their product.
“Genetic testing is an important medical tool in certain situations, but for healthy people as a way to predict common complex diseases, it’s pretty useless,” she told BBC News.
“Most complex diseases and almost all the common ones – with some exceptions such as the BRCA 1 and 2 genes (implicated in breast cancer) – are multi-factorial with many genes and other biological, social and environmental causes.”
What happens to the data gathered by 23andMe also concerns some people. “It’s not entirely clear what their business plan is – whether they want to make money by selling kits to consumers, or whether they want to make most of their money by selling consumer data to other companies,” Prof Greely told BBC News.
But Ms Wojcicki believes the information provided to customers is empowering. “23andMe’s mission is to ensure that individuals can personally access, understand and benefit from the human genome,” she said.
Commenting on the announcement, Mark Thomas, professor of evolutionary genetics at University College London, said: “For better or worse, direct-to-the-consumer genetic testing companies are here to stay.
“One could argue the rights and wrongs of such companies existing, but I suspect that ship has sailed.”