Urgent improvements needed to diagnose and manage Lynch syndrome

Monahan, Kevin; Alsina, Deborah; Bach, Simon; Buchanan, James; Burn, John; Clark, Sue; Dawson, Peter E.; Souza, Bianca de; Din, Farhat V N; Dolwani, Sunil; Dunlop, Malcolm G.; East, James E.; Evans, D. Gareth; Fearnhead, Nicola; Frayling, Ian Martin; Glynne‐Jones, Rob; Hill, James A.; Houlston, Richard S.; Lalloo, Fiona; Latchford, Andrew; Lishman, Suzy; Quirke, Philip; Rees, Colin; Rutter, Matt; Sasieni, Peter; Senapati, Asha; Speake, Doug; Thomas, Huw; Tomlinson, Ian

doi:10.1136/bmj.j1388

Cited by 20 publications

(26 citation statements)

References 2 publications

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“…People at hereditary CRC risk require coordinated, timely and high-quality care to reduce their cancer risk and should have access to a full range of management options that minimise the risk of morbidity and mortality 9. A structured referral pathway may ensure better inter-specialty communication and timely, efficient management of hereditary risk from primary through to tertiary care provision.…”

Section: Service Provision Communication and Management Principlesmentioning

confidence: 99%

“…It also facilitates an audit trail and subsequent monitoring of performance. Patients should have access to a full range of management options that minimise the risk of morbidity and mortality 9…”

Section: Service Provision Communication and Management Principlesmentioning

confidence: 99%

“…Awareness of hereditary conditions may be inadequate, resulting in an inconsistent approach to the management of these individuals 9 11. Many patients do not have personalised management strategies and there is a failure to provide adequate follow-up 12 13.…”

Section: Service Provision Communication and Management Principlesmentioning

confidence: 99%

“…Genetic testing and/or counselling may resolve uncertainty about personal and familial cancer risk and provide information to guide and personalise decisions about future health care in anyone with an FHCC 16 17. It has been recommended that a dedicated clinical champion for hereditary CRC should be established in each colorectal multidisciplinary team (MDT) to oversee service coordination and to ensure patient pathways 9 18. The establishment of these champions will be another critical component in establishing equity of care.…”

Section: Service Provision Communication and Management Principlesmentioning

confidence: 99%

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Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

Monahan

Bradshaw²,

Dolwani

et al. 2019

Gut

Self Cite

313

375

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Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual’s lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups; however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. We also invited external review through the Delphi process by members of the public as well as the steering committees of the European Hereditary Tumour Group (EHTG) and the European Society of Gastrointestinal Endoscopy (ESGE). A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.

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Section: Service Provision Communication and Management Principlesmentioning

confidence: 99%

Section: Service Provision Communication and Management Principlesmentioning

confidence: 99%

Section: Service Provision Communication and Management Principlesmentioning

confidence: 99%

Section: Service Provision Communication and Management Principlesmentioning

confidence: 99%

See 2 more Smart Citations

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

Monahan

Bradshaw²,

Dolwani

et al. 2019

Gut

Self Cite

313

375

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“…A national registry approach to managing risk may be the best way to identify an unbiased population set of high-risk patients. This should be linked to clinical networks, including national approaches to surveillance and screening, enabling development of enhanced prevention and surveillance programmes for high-risk patients, 51 and reallocation of valuable resources for those at low risk. 52 …”

Section: Evidence Base For Research Gapss and Recommendationsmentioning

confidence: 99%

Critical research gaps and recommendations to inform research prioritisation for more effective prevention and improved outcomes in colorectal cancer

Lawler

Alsina

Adams

et al. 2017

Gut

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ObjectiveColorectal cancer (CRC) leads to significant morbidity/mortality worldwide. Defining critical research gaps (RG), their prioritisation and resolution, could improve patient outcomes.DesignRG analysis was conducted by a multidisciplinary panel of patients, clinicians and researchers (n=71). Eight working groups (WG) were constituted: discovery science; risk; prevention; early diagnosis and screening; pathology; curative treatment; stage IV disease; and living with and beyond CRC. A series of discussions led to development of draft papers by each WG, which were evaluated by a 20-strong patient panel. A final list of RGs and research recommendations (RR) was endorsed by all participants.ResultsFifteen critical RGs are summarised below: RG1: Lack of realistic models that recapitulate tumour/tumour micro/macroenvironment; RG2: Insufficient evidence on precise contributions of genetic/environmental/lifestyle factors to CRC risk; RG3: Pressing need for prevention trials; RG4: Lack of integration of different prevention approaches; RG5: Lack of optimal strategies for CRC screening; RG6: Lack of effective triage systems for invasive investigations; RG7: Imprecise pathological assessment of CRC; RG8: Lack of qualified personnel in genomics, data sciences and digital pathology; RG9: Inadequate assessment/communication of risk, benefit and uncertainty of treatment choices; RG10: Need for novel technologies/interventions to improve curative outcomes; RG11: Lack of approaches that recognise molecular interplay between metastasising tumours and their microenvironment; RG12: Lack of reliable biomarkers to guide stage IV treatment; RG13: Need to increase understanding of health related quality of life (HRQOL) and promote residual symptom resolution; RG14: Lack of coordination of CRC research/funding; RG15: Lack of effective communication between relevant stakeholders.ConclusionPrioritising research activity and funding could have a significant impact on reducing CRC disease burden over the next 5 years.

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Roles and Responsibilities of Stakeholders in Informing Healthy Individuals on Their Genome: A Sociotechnical Analysis

Cornel

Rigter

2020

SpringerBriefs in Public Health

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Urgent improvements needed to diagnose and manage Lynch syndrome

Cited by 20 publications

References 2 publications

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

Critical research gaps and recommendations to inform research prioritisation for more effective prevention and improved outcomes in colorectal cancer

Roles and Responsibilities of Stakeholders in Informing Healthy Individuals on Their Genome: A Sociotechnical Analysis

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