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The latest on testing for Lynch syndrome in bowel cancer patients – NICE guidelines: Helping the undetected, be detected!

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Lynch syndrome is a genetic condition which can significantly increase the risk of developing colorectal cancer, to up to 80%. – Estimates indicate over 1,200 bowel cancer cases, in the UK, are caused by the hereditary condition each year. – The disease is caused by a genetic defect in the mismatch repair (MMR) genes, which are designed to recognise and correct faults in DNA; thus assisting in cancer prevention. However, when an error occurs in an MMR gene, any faults in DNA will not be corrected, which can lead to tumour cells developing.

The condition is inherited, which means there is a 50:50 chance of passing on the disease; leading to devastating effects of whole families developing cancer.

200,000 people are estimated to have Lynch syndrome in the UK, and 1 in 300 globally, yet fewer than 5% of cases are detected in the UK. This indicates a lack of patient testing, that’s why we are supporters of Bowel Cancer UK’s Time to Test and Never Too Young campaigns.

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Testing for Lynch syndrome:

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At diagnosis of bowel cancer, all patients should be tested for the hereditary condition. This enables patients and their immediate family to be placed in an endoscopic surveillance programme to receive regular colonoscopies; which provides a 72% risk reduction in bowel cancer mortality. NICE estimate that annually, upwards of 300 bowel cancer cases could be prevented by testing patients for Lynch syndrome.

The screening and surveillance guidelines, by NICE, is a positive move towards identifying suspected patients with Lynch syndrome. However, are hospitals equipped to implement the NICE recommendation? – Ensuring all patients diagnosed with colorectal cancer are tested via MSI (microsatellite instability) or IHC (immunohistochemistry) testing; in order to detect abnormalities which could indicate the presence of the genetic condition.

Current testing climate:

Once diagnosed, patient care still requires improvement. The UK recommendation suggests those with Lynch syndrome have frequent follow up colonoscopy screening procedures every 18 months, to two years. However, Bowel Cancer UK‘s patient experience report discovered that 78% of respondents had experienced a six+ week delay to their routine appointments.

Many hospitals have had roll out issues when providing the testing and surveillance programme because of resource and capacity issues.

Latest news on testing for Lynch syndrome:

The above induced Bowel Cancer UK’s Time to Test campaign, urging Health Ministers to intervene and take responsibility for improving the detection and surveillance of Lynch syndrome. – The campaign was successful and in April this year, Wales was the first in the UK to commit to a national testing system, in line with clinical guidelines, for all bowel cancer patients to be tested for lynch syndrome.

In June, Bowel Cancer UK presented the Time To Test petition to UK governments, holding hand-in events in Edinburgh, London and Belfast, to represent the importance of testing and surveillance for the genetic condition. Check out their week of action and watch this space…

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Lynch syndrome facts and statistics Source: Bowel Cancer UK

Furthermore, the roll out appears to be gaining traction. In August 2018, NICE reported a local uptake figure of 97.5%, which is contrary to former thoughts. However, the variation in testing across the UK still poses an issue; although with aforementioned actions, the existing discrepancies will hopefully be mitigated.

Wales is paving the way when it comes to testing for Lynch syndrome; when are the rest of the UK going to follow suit? – Let’s make genetic testing a reality across the UK.

[/fusion_text][/fusion_builder_column][/fusion_builder_row][/fusion_builder_container][fusion_builder_container hundred_percent=”no” hundred_percent_height=”no” hundred_percent_height_scroll=”no” hundred_percent_height_center_content=”yes” equal_height_columns=”no” menu_anchor=”” hide_on_mobile=”small-visibility,medium-visibility,large-visibility” status=”published” publish_date=”” class=”” id=”” background_color=”” background_image=”” background_position=”center center” background_repeat=”no-repeat” fade=”no” background_parallax=”none” enable_mobile=”no” parallax_speed=”0.3″ video_mp4=”” video_webm=”” video_ogv=”” video_url=”” video_aspect_ratio=”16:9″ video_loop=”yes” video_mute=”yes” video_preview_image=”” border_size=”” border_color=”” border_style=”solid” margin_top=”” margin_bottom=”” padding_top=”” padding_right=”” padding_bottom=”” padding_left=””][fusion_builder_row][fusion_builder_column type=”1_1″ layout=”1_1″ spacing=”” center_content=”no” link=”” target=”_self” min_height=”” hide_on_mobile=”small-visibility,medium-visibility,large-visibility” class=”” id=”” background_color=”” background_image=”” background_image_id=”” background_position=”left top” background_repeat=”no-repeat” hover_type=”none” border_size=”0″ border_color=”” border_style=”solid” border_position=”all” padding_top=”” padding_right=”” padding_bottom=”” padding_left=”” margin_top=”” margin_bottom=”” animation_type=”” animation_direction=”left” animation_speed=”0.3″ animation_offset=”” last=”no”][fusion_flip_boxes columns=”4″ icon=”” icon_color=”” circle=”yes” circle_color=”” circle_border_color=”” icon_flip=”” icon_rotate=”” icon_spin=”no” image=”” image_id=”” image_width=”” image_height=”” hide_on_mobile=”small-visibility,medium-visibility,large-visibility” class=”” id=”” image_max_width=””][fusion_flip_box title_front=”” title_back=”” text_front=”“People with Lynch syndrome are at increased risk of bowel cancer. We deliver well organised population based screening programmes these only take patient age, not other risk factors. The screening and surveillance of people with Lynch syndrome should be urgently embedded into the Bowel Cancer Screening Programme. This could help save lives.”” background_color_front=”#1a5f72″ title_front_color=”#3bafbf” text_front_color=”#ffffff” background_color_back=”#f4f4f4″ title_back_color=”” text_back_color=”#686868″ border_size=”” border_color=”” border_radius=”15″ icon=”” icon_color=”” circle=”” circle_color=”” circle_border_color=”” icon_flip=”” icon_rotate=”” icon_spin=”” image=”” image_id=”” image_max_width=”35″ image_height=”35″ animation_type=”” animation_direction=”left” animation_speed=”0.1″ animation_offset=””]

Professor Colin Rees, Consultant Gastroenterologist South Tyneside NHS Foundation Trust

[/fusion_flip_box][fusion_flip_box title_front=”” title_back=”” text_front=”“It’s great to see the full roll out of Lynch Syndrome testing for all patients with bowel cancer in Wales. This is an example of where a pathology test can guide patients and clinicians about the best treatment options, reduce risk and prevent future cancers”” background_color_front=”#3bafbf” title_front_color=”#3bafbf” text_front_color=”#ffffff” background_color_back=”#f4f4f4″ title_back_color=”” text_back_color=”#686868″ border_size=”” border_color=”” border_radius=”15″ icon=”” icon_color=”” circle=”” circle_color=”” circle_border_color=”” icon_flip=”” icon_rotate=”” icon_spin=”” image=”” image_id=”” image_max_width=”35″ image_height=”35″ animation_type=”” animation_direction=”left” animation_speed=”0.1″ animation_offset=””]

Dr. Esther Youd, Royal College of Pathologists

[/fusion_flip_box][fusion_flip_box title_front=”” title_back=”” text_front=”“It is vitally important that we mange people with Lynch syndrome, who have a very high lifetime risk of bowel cancer, to the highest of standards. This requires reliable case-identification, robust call and recall mechanisms and high quality colonoscopic surveillance, all underpinned by clear patient information and support.” ” background_color_front=”#1a5f72″ title_front_color=”#ffffff” text_front_color=”#ffffff” background_color_back=”#f4f4f4″ title_back_color=”” text_back_color=”#686868″ border_size=”” border_color=”” border_radius=”15″ icon=”” icon_color=”” circle=”” circle_color=”” circle_border_color=”” icon_flip=”” icon_rotate=”” icon_spin=”” image=”” image_id=”” image_max_width=”35″ image_height=”35″ animation_type=”” animation_direction=”left” animation_speed=”0.1″ animation_offset=””]

Matt Rutter, Consultant Physician at North Tees and Hartlepool NHS Foundation Trust

[/fusion_flip_box][fusion_flip_box title_front=”” title_back=”” text_front=”“We must all take responsibility to ensure all people with bowel cancer are tested for Lynch syndrome. This testing provides many opportunities to save lives, by enabling personalised care and treatment and by preventing cancer in their relatives. We know that testing is cost-effective but is not currently offered systematically to bowel cancer patients in the UK.” ” background_color_front=”#3bafbf” title_front_color=”#ffffff” text_front_color=”#ffffff” background_color_back=”#f4f4f4″ title_back_color=”” text_back_color=”#686868″ border_size=”” border_color=”” border_radius=”15″ icon=”” icon_color=”” circle=”” circle_color=”” circle_border_color=”” icon_flip=”” icon_rotate=”” icon_spin=”” image=”” image_id=”” image_max_width=”35″ image_height=”35″ animation_type=”” animation_direction=”left” animation_speed=”0.1″ animation_offset=””]

Dr Kevin Monahan, Consultant Gastroenterologist

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Review the guidelines on BSG’ or NICE’ website.

Read the latest news and updates on Bowel Cancer UK’s Campaign on Lynch syndrome and NICE guidelines.
More on Lynch syndrome and related extracolonic cancers, such as endometrial and gastric cancer.
Further clinical trial and study information on Lynch syndrome testing can be found here.

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Check out the facts and figures on bowel cancer and learn about the recent screening age reduction, in the below article…

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