An economic viewpoint on alternative strategies for identifying persons with hereditary nonpolyposis colorectal cancer

Ramsey, Scott D.; Burke, Wylie; Clarke, Lauren

doi:10.1097/01.gim.0000086626.03082.b5

Cited by 38 publications

(88 citation statements)

References 53 publications

(6 reference statements)

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“…32,35 Estimates of the lifetime risk of CRC for mutation carriers in the absence of prevention strategies varied widely among the studies. It was higher in the least recent analyses (80%) 26,27,29 and considerably lower in the latest studies. 30,[32][33][34][35][37][38][39]41,43,44 Estimates of reduction in risk of CRC in mutation carriers adhering to LS surveillance programs was assumed to be 56-62% in most studies.…”

Section: Quality Assessmentmentioning

confidence: 58%

“…[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%

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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: Quality Assessmentmentioning

confidence: 58%

Section: General Characteristics Of Studiesmentioning

confidence: 99%

Section: Quality Assessmentmentioning

confidence: 99%

Section: Quality Assessmentmentioning

confidence: 99%

Section: Quality Assessmentmentioning

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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Cost-Effectiveness and Diagnostic Effectiveness Analyses of Multiple Algorithms for the Diagnosis of Lynch Syndrome

et al. 2014

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Background & Aims The optimal algorithm to identify Lynch syndrome (LS) among patients with colorectal cancer (CRC) is unclear. The definitive test for LS, germline testing, is too expensive to be applied in all cases. Initial screening with the Revised Bethesda Guidelines (RBG) cannot be applied in a considerable number of cases due to missing information. Methods We developed a model to evaluate the cost-effectiveness of 10 strategies for diagnosing LS. Three main issues are addressed: modeling estimates (20–40%) of RBG applicability; comparing sequential or parallel use of MSI and IHC; and a threshold analysis of the charge value below which universal germline testing becomes the most cost effective strategy. Results LS detection rates in RBG-based strategies decreased to 64.1%-70.6% with 20% inapplicable RBG. The strategy that uses MSI alone had lower yield but also lower cost than strategies that use MSI sequentially or in parallel with IHC. The use of MSI and IHC in parallel was less affected by variations in the sensitivity and specificity of these tests. Universal germline testing had the highest yield and the highest cost of all strategies. The model estimated that if charges for germline testing drop to $633–1518, universal testing of all newly diagnosed CRC cases becomes the most cost effective strategy. Conclusions The low applicability of RBG makes strategies employing initial laboratory based testing more cost effective. Of these strategies, parallel testing with MSI and IHC offers the most robust yield. With a considerable drop in cost, universal germline testing may become the most cost effective strategy for the diagnosis of LS.

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Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience

Erten

Fernandez

et al. 2016

Dig Dis Sci

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An economic viewpoint on alternative strategies for identifying persons with hereditary nonpolyposis colorectal cancer

Abstract: The Bethesda guidelines are the most cost-effectiveness approach to screen persons for HNPCC.

Cited by 38 publications

References 53 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

Cost-Effectiveness and Diagnostic Effectiveness Analyses of Multiple Algorithms for the Diagnosis of Lynch Syndrome

Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience

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