Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

Giardiello, Francis M.; Allen, John I.; Axilbund, Jennifer E.; Boland, C. Richard; Burke, Carol A.; Burt, Randall W.; Church, James M.; Dominitz, Jason A.; Johnson, David A.; Kaltenbach, Tonya; Levin, Theodore R.; Lieberman, David A.; Robertson, Douglas J.; Syngal, Sapna; Rex, Douglas K.

doi:10.1053/j.gastro.2014.04.001

Cited by 493 publications

(495 citation statements)

References 142 publications

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“…However, as current guidelines do not recommend a single age cutoff for EC-based LS screening, 1,54,57,58 further investigation would be needed to shed light on this.…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

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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“…However, as current guidelines do not recommend a single age cutoff for EC-based LS screening, 1,54,57,58 further investigation would be needed to shed light on this.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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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“…4,[29][30][31] Without surveillance, these patients have a 70% probability of developing CRC during their lifetime. 4,[29][30][31] Patients who are diagnosed with Lynch syndrome are offered a preventive colonoscopy every 2 years. On average, their 5-year survival rate is 92% if they are aware of their genetic predisposition and participate in biannual colonoscopies.…”

Section: Dce Developmentmentioning

confidence: 99%

“…[1][2][3][4] CRC is one of the most commonly diagnosed cancers and the leading cause of death among all cancer types worldwide. 5 Prognosis, treatment intensity and the 5-year survival rate significantly improve if CRC is diagnosed at an early stage.…”

Section: Introductionmentioning

confidence: 99%

Preferences for genetic testing for colorectal cancer within a population-based screening program: a discrete choice experiment

et al. 2015

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This study explored individuals' preferences for genetic testing for colorectal cancer (CRC) in a screening situation and their willingness to participate in genetic testing for Lynch syndrome, familial adenomatous polyposis (FAP), and familial colorectal cancer (FCC). For that purpose, 532 respondents aged 55-65 years completed a Discrete Choice Experiment. Using panel latent class models, the preferences for two screening situation characteristics (the probability of being genetically predisposed and the probability of developing CRC) and screening test characteristics (the frequency of preventive colonoscopies and CRC survival) were estimated. Based on these preferences, respondents' willingness to participate in the three screening initiatives was estimated. Lower-educated respondents and respondents who express serious anxiety and worries found colonoscopy frequency and the probability of developing CRC relatively more important and survival relatively less important compared with highereducated respondents and respondents who express no anxiety and worries. These differences in preferences resulted in opposite preferences for participation in FCC and FAP screening. In conclusion, the general population is willing to participate in genetic screening for CRC. If individuals are suspected of genetic or familial CRC, they should at least be informed about their increased risk of being genetically predisposed and about the importance of participating in all preventive follow-up colonoscopies in order to maximize survival.

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“…The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group, the National Comprehensive Cancer Network (NCCN), and other groups have endorsed tumor testing to screen for LS. In a recently released guideline [10], the US Multi-Society Task Force on Colorectal Cancer stated: ''Testing for MMR deficiency of newly diagnosed CRC should be performed.'' There is discretion regarding the specific testing method.…”

mentioning

confidence: 99%

Identifying Persons with Lynch Syndrome: Why and How?

Ladabaum

2014

Dig Dis Sci

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Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

Cited by 493 publications

References 142 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

Preferences for genetic testing for colorectal cancer within a population-based screening program: a discrete choice experiment

Identifying Persons with Lynch Syndrome: Why and How?

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