Category: Screening

“How to set up an in-house nurse-led colorectal Lynch syndrome clinic”

In this paper, Filipe Carvalho goes through how he set- up his service, and outlines the essential steps to consider when setting up and managing an in-house nurse-led colorectal Lynch syndrome clinic.

The NHS long term plan sets a target that by 2028, 75% of cancers will be diagnosed at an early stage. One of the ways this ambition will be reached is through targeted screening and personalised surveillance of those most at risk of developing cancer, such as those with Lynch syndrome.

It highlights the educational requirements, patient criteria, the importance of thorough planning and the need to liaise-on with key stakeholders.

https://www.magonlinelibrary.com/doi/abs/10.12968/gasn.2023.21.6.22

Baseline Features and Reasons for Nonparticipation in the Colonoscopy Versus Fecal Immunochemical Test in Reducing Mortality From Colorectal Cancer (CONFIRM) Study, a Colorectal Cancer Screening Trial

The Colonoscopy Versus Fecal Immunochemical Test in Reducing Mortality From Colorectal Cancer (CONFIRM) randomized clinical trial sought to recruit 50 000 adults into a study comparing colorectal cancer (CRC) mortality outcomes after randomization to either an annual fecal immunochemical test (FIT) or colonoscopy.

Conclusions and relevance: In this cross-sectional analysis of veterans(enrollment was through 46 Department of Veterans Affairs medical centers, comprised veterans aged 50 to 75 years with an average CRC risk and due for screening). choosing nonenrollment in the CONFIRM study, those who declined participation more often preferred FOBT or FIT over colonoscopy. This preference increased over time and was strongest in the western US and may provide insight into trends in CRC screening preferences.

https://pubmed.ncbi.nlm.nih.gov/37432690/

The English National Lynch Syndrome Transformation Project

There is consistent evidence of the cost-effectiveness and clinical benefit of a structured diagnostic pathway in patients with LS following a diagnosis of cancer linked to cascade testing in families. 

Existing guidelines recommend universal testing of newly diagnosed colorectal and endometrial cancer for Lynch syndrome.

….Another approach to deliver effective diagnosis is to develop ‘mainstreaming’ models whereby patients are offered constitutional genetic testing by their cancer treating teams locally, rather than relying on referral of eligible patients to tertiary services such as clinical genetics.

Conclusions

Whilst there is increased awareness of the cancer risks associated with LS, and other aspects of the condition, by clinicians, there remain significant gains which can be made in diagnosis and subsequent lifelong management of people with LS.

Effective diagnosis needs to deliver people with this condition to effective clinical risk mitigation through a range of mechanisms including nationally coordinated and quality-assured colonoscopic surveillance.

In this project, we have aimed to develop expertise within cancer teams across England, with clear responsibilities, leadership from within which will ensure that the patients they are managing with cancer will receive appropriate testing and delivery diagnosis.

The responsibility for managing cascade testing remains with specialist genomics services.

However lifelong care of people diagnosed with this condition depends on awareness of who this population is, as defined through a national registry, and access to regional multidisciplinary expertise.

https://www.bsg.org.uk/service-success-stories/the-english-national-lynch-syndrome-transformation-project/

Be aware of gene changes and cancer in your family and take part in screening to reduce your risk of cancer.

https://www.cancer.ie/cancer-information-and-support/cancer-types/bowel-colorectal-cancer/lynch-syndrome

Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair–Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger

“When patients with Lynch syndrome—whose first cancers generally appear at an early age—aren’t diagnosed promptly, they don’t get appropriate follow-up or surveillance. They can go on to have multiple different cancers before they are finally diagnosed. If we could identify them when they have their first cancer, we could prevent additional cancers—or at least detect them earlier,” said Megan Hitchins, PhD, director of Translational Genomics in the Department of Biomedical Sciences at Cedars-Sinai and lead author of the study.

Study Finds Younger Patients with Lynch Syndrome Often Undetected by Current Guidelines

https://jnccn.org/view/journals/jnccn/21/7/article-p743.xml

Referral challenges for early-onset colorectal cancer: a qualitative study in UK primary care

Aim: To explore awareness of the increasing incidence of EOCRC, and to understand the potential barriers or facilitators faced by general practitioners (GPs) when referring younger adults to secondary care with features suspicious for EOCRC.

Results: Three main themes were identified regarding awareness, diagnostic and referral challenges amongst participating GPs. Awareness challenges focused on perceptions of EOCRC being solely associated with hereditary cancer syndromes and colorectal cancer being a condition of older adults. Key diagnostic challenges centred around the commonality of lower gastrointestinal complaints and overlap in EOCRC symptoms with benign conditions. Restrictions in age-based referral guidance and a GP ‘guilt complex’ surrounding over-referral to secondary care summarised the referral challenges. Young women were perceived as being particularly disadvantaged with regards to delays in diagnosis.

Conclusion: This novel research outlines potential reasons, from a GP perspective, for the diagnostic delays seen in patients with EOCRC and highlights many of the complicating factors that contribute to the diagnostic process.

https://pubmed.ncbi.nlm.nih.gov/37433643/ (Note 17 GPS involved)

A Safety and Efficacy Comparison of a New Sulfate-Based Tablet Bowel Preparation Versus a PEG and Ascorbate Comparator in Adult Subjects Undergoing Colonoscopy (2020)

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7864663/

(515 participants)

RESULTS:

A high rate of cleansing success was seen with OST(Oral sulfate tablets) (92%), which was noninferior to PEG-EA(Polyethylene glycol-electrolyte solution) (89%). Only a small proportion of subjects rated their expected gastrointestinal symptoms as severe (<5% for both preps). No clinically significant differences were seen between preps for chemistry and hematology parameters. No serious adverse experiences were reported with OST.

DISCUSSION:

Sulfate tablets achieved a high level of cleansing in the study, comparable with US FDA–approved preps. OST was noninferior to PEG-EA in this study and achieved significantly more Excellent preps overall and in the proximal colon. The OST prep was well-tolerated, with a similar rate of spontaneously reported adverse experiences to PEG-EA and a low rate of severe expected gastrointestinal symptoms.

Normal Human DNA Variation – Variant of Unknown Significance (VUS)

A short animation from Dr Sally Ann Lynch explaining Variants of Unknown Significance in medical genetics. (2018)

Aspirin Warning: Anemia May Increase With Use

Older people who take daily low-dose aspirin have at 20% higher risk of developing anemia even without having already had a major bleeding event, according to results from a new randomized controlled trial.

https://www.medscape.com/viewarticle/993420?ecd=mkm_ret_230707_mscpmrk-OUS_Monthly_etid5607524&uac=155483SK&impID=5607524

Comment: “it is important to put the warnings coming out of the ASPREE trial in context for those with Lynch. The use of prophylactic aspirin is safe in those under 70yrs and leads to a significant reduction in cancer risk. If you’re worried talk to the Dr who prescribed your aspirin.” (Neil Ryan)

What is the Lynch syndrome registry? (England)

The Lynch syndrome registry records and analyses important information about people with Lynch syndrome.

This helps to understand how people with Lynch syndrome are looked after and cared for across England. All information is held on a secure and confidential computer database.

Why have a Lynch syndrome registry? 

The registry will collect information from people with Lynch syndrome and help to better understand how these people are currently being monitored and managed.

The registry will ultimately be an efficient system that with the help of the bowel cancer screening programme will allow nationally coordinated care for you and others with Lynch syndrome.

It will also become a valuable central research resource that could be used to support other studies.