Evidence map›Paper›PMID 41584147›Full record

SynthesisFrontiers in public health2025

Measuring the health benefits of genome and exome sequencing: a systematic review of economic evaluations.

Marianna Riccio, Annalisa Rosso, Leonardo Maria Siena, Valentina Baccolini, Giuseppe Migliara, Antonio Sciurti, Claudia Isonne, Jessica Iera, Francesco Pierri, Carolina Marzuillo and 3 more

Abstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Frontiers in public health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Marianna Riccio *Department of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Annalisa Rosso *Department of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Leonardo Maria SienaDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Valentina BaccoliniDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Giuseppe MigliaraDepartment of Life Sciences, Health, and Health Professions, Link Campus University, Rome, Italy.
Antonio SciurtiDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Claudia IsonneDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Jessica IeraDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Francesco PierriDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Carolina MarzuilloDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Corrado De VitoDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Giuseppe La TorreDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Paolo VillariDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Genome sequencing (GS) and exome sequencing (ES) technologies have gained increasing attention in health economics for evaluating their clinical and public health introduction, but their complexity challenges traditional methods. This systematic review aimed to investigate and discuss full economic evaluations (EEs) of GS and ES in relation to health outcomes, with a focus on methodological issues. Methods: A systematic search of several databases was carried out (PROSPERO CRD42023430992). Quality was evaluated using the Quality of Health Economic Studies instrument. Key methodological features were investigated, and a narrative synthesis of the findings was performed after grouping studies by testing scope. Results: Overall, 12 recently published cost-utility analyses (CUAs) were included, assessing the use of GS/ES for guiding targeted therapy in oncology ( Conclusion: Traditional CUA approaches are essential to guide the implementation of new technologies, but they should be accommodated or complemented by alternative methods, innovative and comprehensive frameworks that capture the broader value of GS/ES and support their integration into clinical and public health practice.

Indexed as

Cost-Benefit AnalysisExome SequencingWhole Genome SequencingHumanscost-effectivenesscost-utilityeconomic evaluationexome sequencing (ES)genome sequencing (GS)systematic review

Identifiers

PMID41584147
PMCPMC12827763

What Socratic 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 Socratic graph.