Evidence map›Paper›PMID 40315972›Full record

ArticleClinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association2025

Cost-effectiveness of Lynch Syndrome Screening in Colorectal Cancer: Universal Germline vs Sequential Screening.

Satoko Ito, Rosa M Xicola, Manraj Sra, Kunal C Potnis, Vinit Singh, Peter Gershkovich, Edward Stites, Joanna Gibson, Harlan M Krumholz, Xavier Llor and 1 more

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In one paragraph

Article in Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. 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

11 authors.

Satoko ItoSection of Medical Oncology and Hematology, Department of Internal Medicine, Yale School of Medicine and Yale Cancer Center, New Haven, Connecticut.
Rosa M XicolaDepartment of Genetics, Yale School of Medicine, New Haven, Connecticut.
Manraj SraDivision of Hematology, Department of Medicine, Mayo Clinic, Rochester, Minnesota.
Kunal C PotnisDepartment of Medicine, Yale School of Medicine, New Haven, Connecticut.
Vinit SinghDepartment of Medicine, Roswell Park Comprehensive Cancer Center, Buffalo, New York.
Peter GershkovichDepartment of Pathology, Yale School of Medicine, New Haven, Connecticut.
Edward StitesDepartment of Laboratory Medicine, Yale School of Medicine, New Haven, Connecticut.
Joanna GibsonDepartment of Pathology, Yale School of Medicine, New Haven, Connecticut.
Harlan M KrumholzSection of Cardiovascular Medicine, Department of Medicine, Yale School of Medicine, New Haven, Connecticut; Center for Outcomes Research and Evaluation, Yale New Haven Hospital, New Haven, Connecticut.
Xavier LlorDepartment of Medicine, Yale School of Medicine, New Haven, Connecticut.
George GoshuaSection of Medical Oncology and Hematology, Department of Internal Medicine, Yale School of Medicine and Yale Cancer Center, New Haven, Connecticut; Center for Outcomes Research and Evaluation, Yale New Haven Hospital, New Haven, Connecticut. Electronic address: george.goshua@yale.edu.

Funding

Yale Pathology Tissue Services Shared ResourceP30CA016359 · NCI · YALE UNIVERSITY · PI MEGAN C KING · 1985 to 2026
$85.0M
Targeted, adaptive and time-variant strategies for bleed prevention across the lifespan for persons with hemophilia AK01HL175220 · NHLBI · YALE UNIVERSITY · PI George Goshua · 2024 to 2026
$520k
NCI NIH HHS P30 CA016359NHLBI NIH HHS K01 HL175220
6 · The paper itself

Abstract

BACKGROUND &

aimsTesting all colorectal cancers (CRCs) for mismatch repair status to evaluate for Lynch syndrome (LS) has been recommended for years. Owing to attrition in the multistep diagnostic testing pathway, most qualifying patients still do not receive genetic testing for LS. This leads to missed diagnoses and preventable cancer incidence. To tackle this, we previously reported a systems approach that resulted in a dramatic increase in the identification of patients with LS. We aim to evaluate the cost-effectiveness of this intervention compared with both real-world pre-intervention experience and with upfront germline testing of all CRC probands.

methodsWe employed data from the Prospective Lynch Syndrome Database, the National Cancer Institute Surveillance, Epidemiology, and End Results program, and pre-/post-intervention cohort studies to build lifetime Markov cohorts of CRC probands, testing 3 strategies: (1) current standard-of-care; (2) optimized standard-of-care; and (3) upfront germline testing. The primary outcome was the incremental cost-effectiveness ratio (ICER) in $ per quality-adjusted life-year (QALY) from the United States health system perspective.

resultsStrategies #1 to #3 accrued 11.97, 11.98, and 11.99 discounted QALYs at discounted costs of $100,610, $100,980, and $102,290, respectively. The pairwise ICERs on the frontier were $34,500/QALY (95% credible interval [CI], $28,400-$44,200) and $98,500/QALY (95% CI, $73,700-$216,000), respectively. The cost-effectiveness of #3 vs #1 was $70,300/QALY (95% CI, $54,600-$92,500). Current standard-of-care was favored in 0.0% of 10,000 Monte Carlo iterations.

conclusionsCurrent clinical practice is cost-ineffective. Prospective intervention to dramatically increase LS testing (ie, to reach a threshold of >75%) or, if this level cannot be reached, upfront germline testing are cost-effective interventions that improve quality-adjusted life expectancy.

Indexed as

Colorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisCost-Benefit AnalysisEarly Detection of CancerGenetic TestingMass ScreeningAdultAgedFemaleHumansMaleMiddle AgedProspective StudiesUnited StatesColorectal CancerCost-effectivenessDiagnosisLynch Syndrome

Identifiers

PMID40315972
PMCPMC12354148

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Registered trials

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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.