Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy
Lynch syndrome (LS) is an autosomal dominant condition caused by pathogenic variants in mismatch repair (MMR) genes that predispose individuals to different malignancies, such as colorectal cancer (CRC) and endometrial cancer. Current guidelines recommended testing for LS in individuals with newly d...
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| creator | Pastorino, Roberta Basile, Michele Tognetto, Alessia Di Marco, Marco Grossi, Adriano Lucci-Cordisco, Emanuela Scaldaferri, Franco De Censi, Andrea Federici, Antonio Villari, Paolo Genuardi, Maurizio Ricciardi, Walter Boccia, Stefania |
| description | Lynch syndrome (LS) is an autosomal dominant condition caused by pathogenic variants in mismatch repair (MMR) genes that predispose individuals to different malignancies, such as colorectal cancer (CRC) and endometrial cancer. Current guidelines recommended testing for LS in individuals with newly diagnosed CRC to reduce cancer morbidity and mortality in relatives. Economic evaluations in support of such approach, however, are not available in Italy. We developed a decision-analytic model to analyze the cost-effectiveness of LS screening from the perspective of the Italian National Health System. Three testing strategies: the sequencing of all MMR genes without prior tumor analysis (Strategy 1), a sequential IHC and MS-MLPA analysis (Strategy 2), and an age-targeted strategy with a revised Bethesda criteria assessment before IHC and methylation-specific MLPA for patients [greater than or equal to] than 70 years old (Strategy 3) were analyzed and compared to the "no testing" strategy. Quality Adjusted Life Years (QALYs) in relatives after colonoscopy, aspirin prophylaxis and an intensive gynecological surveillance were estimated through a Markov model. Assuming a CRC incidence rate of 0.09% and a share of patients affected by LS equal to 2.81%, the number of detected pathogenic variants among CRC cases ranges, in a given year, between 910 and 1167 depending on the testing strategy employed. The testing strategies investigated, provided one-time to the entire eligible population (CRC patients), were associated with an overall cost ranging between [euro]1,753,059.93-[euro]10,388,000.00. The incremental cost-effectiveness ratios of the Markov model ranged from [euro]941.24 /QALY to [euro]1,681.93 /QALY, thus supporting that "universal testing" versus "no testing" is cost-effective, but not necessarily in comparison with age-targeted strategies. This is the first economic evaluation on different testing strategies for LS in Italy. The results might support the introduction of cost-effective recommendations for LS screening in Italy. |
| doi_str_mv | 10.1371/journal.pone.0235038 |
| format | Article |
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Current guidelines recommended testing for LS in individuals with newly diagnosed CRC to reduce cancer morbidity and mortality in relatives. Economic evaluations in support of such approach, however, are not available in Italy. We developed a decision-analytic model to analyze the cost-effectiveness of LS screening from the perspective of the Italian National Health System. Three testing strategies: the sequencing of all MMR genes without prior tumor analysis (Strategy 1), a sequential IHC and MS-MLPA analysis (Strategy 2), and an age-targeted strategy with a revised Bethesda criteria assessment before IHC and methylation-specific MLPA for patients [greater than or equal to] than 70 years old (Strategy 3) were analyzed and compared to the "no testing" strategy. Quality Adjusted Life Years (QALYs) in relatives after colonoscopy, aspirin prophylaxis and an intensive gynecological surveillance were estimated through a Markov model. Assuming a CRC incidence rate of 0.09% and a share of patients affected by LS equal to 2.81%, the number of detected pathogenic variants among CRC cases ranges, in a given year, between 910 and 1167 depending on the testing strategy employed. The testing strategies investigated, provided one-time to the entire eligible population (CRC patients), were associated with an overall cost ranging between [euro]1,753,059.93-[euro]10,388,000.00. The incremental cost-effectiveness ratios of the Markov model ranged from [euro]941.24 /QALY to [euro]1,681.93 /QALY, thus supporting that "universal testing" versus "no testing" is cost-effective, but not necessarily in comparison with age-targeted strategies. This is the first economic evaluation on different testing strategies for LS in Italy. The results might support the introduction of cost-effective recommendations for LS screening in Italy.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0235038</identifier><identifier>PMID: 32609729</identifier><language>eng</language><publisher>San Francisco: Public Library of Science</publisher><subject>Age ; Aspirin ; Biology and Life Sciences ; Cancer ; Care and treatment ; Childrens health ; Colorectal cancer ; Colorectal carcinoma ; Cost analysis ; Cost benefit analysis ; Decision analysis ; Diagnosis ; Diagnostic systems ; Economic aspects ; Endometrial cancer ; Endometrium ; Evaluation ; Genes ; Genetic analysis ; Genetic aspects ; Genetic counseling ; Genetic disorders ; Genetic testing ; Gynecology ; Health services ; Health surveillance ; Hygiene ; Infectious diseases ; Laboratories ; Life sciences ; Markov chains ; Mathematical models ; Medical diagnosis ; Medicine and Health Sciences ; Methylation ; Mismatch repair ; Morbidity ; People and Places ; Physical Sciences ; Prophylaxis ; Proteins ; Public health ; Social Sciences ; Strategy ; Surveillance</subject><ispartof>PloS one, 2020-07, Vol.15 (7), p.e0235038-e0235038</ispartof><rights>COPYRIGHT 2020 Public Library of Science</rights><rights>2020 Pastorino et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2020 Pastorino et al 2020 Pastorino et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c669t-502ac0d282d9f1815911e0c6e9b261264387aed05d8d370fff08b387b1a95b993</citedby><cites>FETCH-LOGICAL-c669t-502ac0d282d9f1815911e0c6e9b261264387aed05d8d370fff08b387b1a95b993</cites><orcidid>0000-0001-5013-0733 ; 0000-0003-4418-3331</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329085/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329085/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79343,79344</link.rule.ids></links><search><contributor>Galli, Alvaro</contributor><creatorcontrib>Pastorino, Roberta</creatorcontrib><creatorcontrib>Basile, Michele</creatorcontrib><creatorcontrib>Tognetto, Alessia</creatorcontrib><creatorcontrib>Di Marco, Marco</creatorcontrib><creatorcontrib>Grossi, Adriano</creatorcontrib><creatorcontrib>Lucci-Cordisco, Emanuela</creatorcontrib><creatorcontrib>Scaldaferri, Franco</creatorcontrib><creatorcontrib>De Censi, Andrea</creatorcontrib><creatorcontrib>Federici, Antonio</creatorcontrib><creatorcontrib>Villari, Paolo</creatorcontrib><creatorcontrib>Genuardi, Maurizio</creatorcontrib><creatorcontrib>Ricciardi, Walter</creatorcontrib><creatorcontrib>Boccia, Stefania</creatorcontrib><title>Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy</title><title>PloS one</title><description>Lynch syndrome (LS) is an autosomal dominant condition caused by pathogenic variants in mismatch repair (MMR) genes that predispose individuals to different malignancies, such as colorectal cancer (CRC) and endometrial cancer. Current guidelines recommended testing for LS in individuals with newly diagnosed CRC to reduce cancer morbidity and mortality in relatives. Economic evaluations in support of such approach, however, are not available in Italy. We developed a decision-analytic model to analyze the cost-effectiveness of LS screening from the perspective of the Italian National Health System. Three testing strategies: the sequencing of all MMR genes without prior tumor analysis (Strategy 1), a sequential IHC and MS-MLPA analysis (Strategy 2), and an age-targeted strategy with a revised Bethesda criteria assessment before IHC and methylation-specific MLPA for patients [greater than or equal to] than 70 years old (Strategy 3) were analyzed and compared to the "no testing" strategy. Quality Adjusted Life Years (QALYs) in relatives after colonoscopy, aspirin prophylaxis and an intensive gynecological surveillance were estimated through a Markov model. Assuming a CRC incidence rate of 0.09% and a share of patients affected by LS equal to 2.81%, the number of detected pathogenic variants among CRC cases ranges, in a given year, between 910 and 1167 depending on the testing strategy employed. The testing strategies investigated, provided one-time to the entire eligible population (CRC patients), were associated with an overall cost ranging between [euro]1,753,059.93-[euro]10,388,000.00. The incremental cost-effectiveness ratios of the Markov model ranged from [euro]941.24 /QALY to [euro]1,681.93 /QALY, thus supporting that "universal testing" versus "no testing" is cost-effective, but not necessarily in comparison with age-targeted strategies. This is the first economic evaluation on different testing strategies for LS in Italy. The results might support the introduction of cost-effective recommendations for LS screening in Italy.</description><subject>Age</subject><subject>Aspirin</subject><subject>Biology and Life Sciences</subject><subject>Cancer</subject><subject>Care and treatment</subject><subject>Childrens health</subject><subject>Colorectal cancer</subject><subject>Colorectal carcinoma</subject><subject>Cost analysis</subject><subject>Cost benefit analysis</subject><subject>Decision analysis</subject><subject>Diagnosis</subject><subject>Diagnostic systems</subject><subject>Economic aspects</subject><subject>Endometrial cancer</subject><subject>Endometrium</subject><subject>Evaluation</subject><subject>Genes</subject><subject>Genetic analysis</subject><subject>Genetic aspects</subject><subject>Genetic counseling</subject><subject>Genetic disorders</subject><subject>Genetic testing</subject><subject>Gynecology</subject><subject>Health services</subject><subject>Health 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one</jtitle><date>2020-07-01</date><risdate>2020</risdate><volume>15</volume><issue>7</issue><spage>e0235038</spage><epage>e0235038</epage><pages>e0235038-e0235038</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Lynch syndrome (LS) is an autosomal dominant condition caused by pathogenic variants in mismatch repair (MMR) genes that predispose individuals to different malignancies, such as colorectal cancer (CRC) and endometrial cancer. Current guidelines recommended testing for LS in individuals with newly diagnosed CRC to reduce cancer morbidity and mortality in relatives. Economic evaluations in support of such approach, however, are not available in Italy. We developed a decision-analytic model to analyze the cost-effectiveness of LS screening from the perspective of the Italian National Health System. Three testing strategies: the sequencing of all MMR genes without prior tumor analysis (Strategy 1), a sequential IHC and MS-MLPA analysis (Strategy 2), and an age-targeted strategy with a revised Bethesda criteria assessment before IHC and methylation-specific MLPA for patients [greater than or equal to] than 70 years old (Strategy 3) were analyzed and compared to the "no testing" strategy. Quality Adjusted Life Years (QALYs) in relatives after colonoscopy, aspirin prophylaxis and an intensive gynecological surveillance were estimated through a Markov model. Assuming a CRC incidence rate of 0.09% and a share of patients affected by LS equal to 2.81%, the number of detected pathogenic variants among CRC cases ranges, in a given year, between 910 and 1167 depending on the testing strategy employed. The testing strategies investigated, provided one-time to the entire eligible population (CRC patients), were associated with an overall cost ranging between [euro]1,753,059.93-[euro]10,388,000.00. The incremental cost-effectiveness ratios of the Markov model ranged from [euro]941.24 /QALY to [euro]1,681.93 /QALY, thus supporting that "universal testing" versus "no testing" is cost-effective, but not necessarily in comparison with age-targeted strategies. This is the first economic evaluation on different testing strategies for LS in Italy. The results might support the introduction of cost-effective recommendations for LS screening in Italy.</abstract><cop>San Francisco</cop><pub>Public Library of Science</pub><pmid>32609729</pmid><doi>10.1371/journal.pone.0235038</doi><tpages>e0235038</tpages><orcidid>https://orcid.org/0000-0001-5013-0733</orcidid><orcidid>https://orcid.org/0000-0003-4418-3331</orcidid><oa>free_for_read</oa></addata></record> |
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| recordid | cdi_plos_journals_2419348489 |
| source | DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Free Full-Text Journals in Chemistry; Public Library of Science (PLoS) |
| subjects | Age Aspirin Biology and Life Sciences Cancer Care and treatment Childrens health Colorectal cancer Colorectal carcinoma Cost analysis Cost benefit analysis Decision analysis Diagnosis Diagnostic systems Economic aspects Endometrial cancer Endometrium Evaluation Genes Genetic analysis Genetic aspects Genetic counseling Genetic disorders Genetic testing Gynecology Health services Health surveillance Hygiene Infectious diseases Laboratories Life sciences Markov chains Mathematical models Medical diagnosis Medicine and Health Sciences Methylation Mismatch repair Morbidity People and Places Physical Sciences Prophylaxis Proteins Public health Social Sciences Strategy Surveillance |
| title | Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-30T21%3A38%3A55IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Cost-effectiveness%20analysis%20of%20genetic%20diagnostic%20strategies%20for%20Lynch%20syndrome%20in%20Italy&rft.jtitle=PloS%20one&rft.au=Pastorino,%20Roberta&rft.date=2020-07-01&rft.volume=15&rft.issue=7&rft.spage=e0235038&rft.epage=e0235038&rft.pages=e0235038-e0235038&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0235038&rft_dat=%3Cgale_plos_%3EA628243386%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2419348489&rft_id=info:pmid/32609729&rft_galeid=A628243386&rft_doaj_id=oai_doaj_org_article_0433154fb4d64cfd8f2de910406ed5de&rfr_iscdi=true |