Evidence map›Paper›PMID 32609729›Full record

ArticlePloS one2020

Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy.

Roberta Pastorino, Michele Basile, Alessia Tognetto, Marco Di Marco, Adriano Grossi, Emanuela Lucci-Cordisco, Franco Scaldaferri, Andrea De Censi, Antonio Federici, Paolo Villari and 3 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 27% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 5 institutions in 1 country.

Roberta PastorinoDepartment of Woman and Child Health and Public Health-Public Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia.ORCID 0000-0001-5013-0733
Michele BasileUniversità Cattolica del Sacro Cuore, Alta Scuola di Economia e Management dei Sistemi Sanitari (ALTEMS), Roma, Italia.
Alessia TognettoSection of Hygiene, University Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Roma, Italia.
Marco Di MarcoDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Adriano GrossiSection of Hygiene, University Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Roma, Italia.ORCID 0000-0003-4418-3331
Emanuela Lucci-CordiscoDepartment of Laboratory and Infectious Sciences, Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Franco ScaldaferriUOC Medicina Interna, Gastroenterologia e Malattie del Fegato, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Andrea De CensiMedical Oncology Unit, Galliera Hospital, Genova, Italy.
Antonio FedericiDirection of Prevention, Ministry of Health, Rome, Italy.
Paolo VillariDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Maurizio GenuardiDepartment of Laboratory and Infectious Sciences, Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Walter RicciardiDepartment of Woman and Child Health and Public Health-Public Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia.
Stefania BocciaDepartment of Woman and Child Health and Public Health-Public Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia.
Università Cattolica del Sacro Cuore · ITAgostino Gemelli University Polyclinic · ITSapienza University of Rome · ITEnte Ospedaliero Ospedali Galliera · ITMinistero della Salute · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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 ≥ 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 €1,753,059.93-€10,388,000.00. The incremental cost-effectiveness ratios of the Markov model ranged from €941.24 /QALY to €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.

Indexed as

Colorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisCost-Benefit AnalysisDNA Mismatch RepairGenetic TestingHumansItalyMutL Protein Homolog 1PedigreeProbabilityQuality-Adjusted Life YearsMutL Protein Homolog 1

Identifiers

PMID32609729
PMCPMC7329085
OpenAlexW3038503020

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.