21 October 2016
NICE recommends wider use of tests to detect cancer-causing genetic condition
In draft guidance published today for consultation NICE has recommended that everyone who is diagnosed with colorectal cancer should be tested for an inherited genetic condition called Lynch syndrome (LS).
LS is the most common cause of hereditary bowel cancer and people with it also have an increased risk of developing other cancers including womb, ovarian and stomach. Testing for the condition helps to identify whether the patient’s family may also be at increased risk of cancer, meaning they could be monitored more closely if needed.
The draft guidance recommends that microsatellite instability (MSI) testing or immunohistochemistry (IHC) should be used to detect abnormalities that might mean the presence of LS.
Where these tests show the person has a risk of having LS the draft guidance recommends further tests are carried out to confirm the diagnosis. Because LS is an inherited condition, a positive test can lead to testing for family members.
Diagnosing LS may also help with the choice of treatments for colorectal cancer; for example, to direct chemotherapy or surgery.
People with LS who develop colorectal cancer generally do so at a younger age usually between the aged of 40-50 or younger.
Expanding testing to all people with colorectal cancer will increase the detection of Lynch syndrome and identify families who could benefit from genetic testing to determine if other family members have Lynch syndrome. This could lead to increased surveillance and consequently improved patient outcomes through earlier diagnosis and treatment,
LS accounts for approximately 3.3% (1 in 30) of colorectal tumours, and the condition is estimated to lead to over 1,100 colorectal cancers a year in the UK. An estimated 175,000 people in the UK have Lynch syndrome, a large proportion of whom will be unaware that they have the condition.
Professor Carole Longson MBE, director of the centre for health technology assessment at NICE, said: “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; 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.
“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 MBE, Chief Executive, Bowel Cancer UK, said: “Lynch syndrome has a devastating impact on families. 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 Lynch syndrome and ensure they receive regular colonoscopy, which can reduce their chance of dying from bowel cancer by up to 72%.”
For more information call the NICE press office on 0300 323 0142/ email@example.com or out of hours on 07775 583 813.
Notes to Editors
About the draft diagnostics guidance on molecular testing for Lynch syndrome
- The draft diagnostics guidance on molecular testing for Lynch syndrome in people with colorectal cancer is available on the NICE website at https://www.nice.org.uk/guidance/GID-DG10001/documents/diagnostics-consultation-document
- The closing date for comments is 11 November 2016.
About the NICE Diagnostics Assessment Programme
- For further information about the NICE diagnostics assessment programme see Developing NICE diagnostic technologies guidance
- Topics to be considered by the Programme are routed through the related Medical Technologies Evaluation Programme. Further information about this can be found at Developing NICE medical technologies guidance