Fourfold increased detection of Lynch syndrome by raising age limit for tumour genetic testing from 50 to 70 years is cost-effective

Sie, Aisha S.; Mensenkamp, Arjen R.; Adang, E. M.; Ligtenberg, M.J.L.; Hoogerbrugge, Nicoline

doi:10.1093/annonc/mdu361

Cited by 25 publications

(88 citation statements)

References 23 publications

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“…[25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44] The health-care system perspective was adopted as the viewpoint of analysis in most studies. 25,[27][28][29][30][35][36][37]40,41,43,44 Four studies declared a societal perspective, but none of these included social costs. 26,31,32,39 Most economic models used were based on a decision analysis, [26][27][28][29][30][31][32][33][34][35][36][37][38][39][40]…”

Section: General Characteristics Of Studiesmentioning

confidence: 99%

“…29,35,37,[40][41][42]44 Although to different degrees, most studies gave details of the modeling and parameters used. [26][27][28][30][31][32][33][34][35][36][37][38][39]42,43 The time horizon of the analysis was not always clearly defined, although it could be deduced from the model. 29,31,40,41,44 Sensitivity analysis was performed in all economic evaluations: [25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44] six studies used only univariate analysis, 25,28,31,...…”

Section: Quality Assessmentmentioning

confidence: 99%

“…29,31,40,41,44 Sensitivity analysis was performed in all economic evaluations: [25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44] six studies used only univariate analysis, 25,28,31,39,41,44 while nine studies performed probabilistic sensitivity analysis. 26,27,33,34,36,38,40,42,43 Furthermore, most studies reported the range over which variables varied. [25][26][27][28][29][30][33][34][35][37]…”

Section: Quality Assessmentmentioning

confidence: 99%

“…[25][26][27][28][29][30][33][34][35][37][38][39][40][41][42][43][44] All economic evaluations provided an incremental analysis. [25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44] Influential parameters and basic assumptions…”

Section: Quality Assessmentmentioning

confidence: 99%

“…25,29,31,32,35,39,40,44 Regarding the diagnostic strategies covered by the evaluated programs, 14 studies included clinical criteria; [26][27][28][29][31][32][33][34][37][38][39]41,43,44 specifically, the Amsterdam criteria were used in eight studies, 28,29,[32][33][34][37][38][39] Bethesda guidelines in nine studies, 26,27,33,34,38,39,41,43,44 and computational models in four studies. 31,33,34,39 Seven studies used a specific age cutoff to select people for inclusion in the screening program, 30,32,36,37,41,43,…”

Section: Classification Of Ls Screening Programsmentioning

confidence: 99%

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Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations

Marco

D’Andrea

Panić

et al. 2018

Genetics in Medicine

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Purpose: Lynch syndrome (LS) screening can significantly reduce cancer morbidity and mortality in mutation carriers. Our aim was to identify cost-effective LS screening programs that can be implemented in the "real world."Methods: We performed a systematic review of full economic evaluations of genetic screening for LS in different target populations; health outcomes were estimated in life-years gained or quality-adjusted life-years.Results: Overall, 20 studies were included in the systematic review. Based on the study populations, we identified six categories of LS screening program: colorectal cancer (CRC)-based, endometrial cancer-based, general population-based, LS family registry-based, cascade testing-based, and genetics clinic-based screening programs. We performed an in-depth analysis of CRC-based LS programs, classifying them into three additional subcategories: universal, age-targeted, and selective. In five studies, universal programs based on immunohistochemistry, either alone or in combination with the BRAF test, were cost-effective compared with no screening, while in two studies age-targeted programs with a cutoff of 70 years were cost-effective when compared with agetargeted programs with lower age thresholds.Conclusion: Universal or o70 years-age-targeted CRC-based LS screening programs are cost-effective and should be implemented in the "real world." Genet Med advance online publication 4 January 2018Key Words: colorectal cancer; cost-effectiveness; Lynch syndrome; screening program; systematic review INTRODUCTIONLynch syndrome (LS) is the most common cause of inherited colorectal cancer (CRC), accounting for about 3% of newly diagnosed cases, and results from a mutation in one of the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2). As LS is associated with an increased risk of colorectal, endometrial, and other cancers, it is important to identify both the probands and their family members. 1 In 2009, the Evaluation of Genomic Applications in Practice and Prevention Working Group recommended testing for LS in individuals with newly diagnosed CRC to reduce cancer morbidity and mortality in relatives. 2 The working group declared that there is a moderate certainty that this would provide moderate population benefit, but it did not recommend a specific genetic testing strategy among the several examined, nor did it deal with implementation issues. 2 Thereafter the US Department of Health and Human Services adopted the following as a Healthy People 2020 developmental objective: 3 "Increase the proportion of persons with newly diagnosed colorectal cancer who receive genetic testing to identify Lynch syndrome (or familial colorectal cancer syndromes)."Although genomic information has the potential to improve the delivery of patient-centered care through tailored preventive, diagnostic, and treatment strategies, there is a considerable gap between discoveries in genomics research and the translation of these findings into genetic services that benefit patients. 4,5 A previous study highl...

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Section: General Characteristics Of Studiesmentioning

confidence: 99%

Section: Quality Assessmentmentioning

confidence: 99%

Section: Quality Assessmentmentioning

confidence: 99%

Section: Quality Assessmentmentioning

confidence: 99%

Section: Classification Of Ls Screening Programsmentioning

confidence: 99%

See 3 more Smart Citations

Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations

Marco

D’Andrea

Panić

et al. 2018

Genetics in Medicine

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Diagnosis of digestive system tumours

Washington

Goldberg

Chang

et al. 2020

Intl Journal of Cancer

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The WHO Classification of Tumours provides the international standards for the classification and diagnosis of tumours. It enables direct comparisons to be made between different countries. In the new fifth edition, the series has gone digital with the launch of a website as well as a series of books, known widely as the WHO Blue Books. The first volume to be produced is on the classification of Digestive System tumours, replacing the successful 2010 version. It has been rewritten and updated accordingly. This article summarises the major diagnostic innovations that have occurred over the last decade and that have now been incorporated in the classification. As an example, it incorporates the recently proposed classification of neuroendocrine tumours, based on the recognition that neuroendocrine tumours and carcinomas differ substantially in the genetic abnormalities that drive their growth, findings relevant to treatment selection and outcome prediction. Several themes have emerged during the production process. One is the importance of the progression from hyperplasia to dysplasia to carcinoma in the evolution of the malignant process. Advances in imaging techniques and endoscopy have resulted in enhanced access to precancerous lesions in the gastrointestinal and biliary tract, necessitating both changes in classification schema and clinical practice. Diagnosis of tumours is no longer the sole purview of pathologists, and some patients now receive treatment before tissue is obtained, based on clinical, radiological and liquid biopsy results. This makes the classification relevant to many disciplines involved in the care of patients with tumours of the digestive system.

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Molecular pathology of Lynch syndrome

Cerretelli

Ager

Arends

et al. 2020

The Journal of Pathology

115

106

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Lynch syndrome (LS) is characterised by predisposition to colorectal, endometrial, and other cancers and is caused by inherited pathogenic variants affecting the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2. It is probably the most common predisposition to cancer, having an estimated prevalence of between 1/100 and 1/180. Resources such as the International Society for Gastrointestinal Hereditary Cancer's MMR gene variant database, the Prospective Lynch Syndrome Database (PLSD), and the Colon Cancer Family Register (CCFR), as well as pathological and immunological studies, are enabling advances in the understanding of LS. These include defined criteria by which to interpret gene variants, the function of MMR in the normal control of apoptosis, definition of the risks of the various cancers, and the mechanisms and pathways by which the colorectal and endometrial tumours develop, including the critical role of the immune system. Colorectal cancers in LS can develop along three pathways, including flat intramucosal lesions, which depend on the underlying affected MMR gene. This gives insights into the limitations of colonoscopic surveillance and highlights the need for other forms of anti-cancer prophylaxis in LS. Finally, it shows that the processes of autoimmunisation and immunoediting fundamentally constrain the development of tumours in LS and explain the efficacy of immune checkpoint blockade therapy in MMR-deficient tumours.

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Fourfold increased detection of Lynch syndrome by raising age limit for tumour genetic testing from 50 to 70 years is cost-effective

Abstract: Testing all CRC tumours diagnosed at or below age 70 for LS is cost-effective. Implementation is important as relatives from the large number of LS patients that are missed by current practice, can benefit from life-saving surveillance.

Cited by 25 publications

References 23 publications

Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations

Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations

Diagnosis of digestive system tumours

Molecular pathology of Lynch syndrome

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