Evidence map›Paper›PMID 42225956›Full record

ReviewEuropean journal of human genetics : EJHG2026

The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review.

Frederick McElwee, Sally L Sansom, James Buchanan, Jenny C Taylor, Sarah Wordsworth

Abstract readReview
PubMed Publisher
In one paragraph

Review in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

5 authors.

Frederick McElweeEconomics of Population Health Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK. frederick.mcelwee@dph.ox.ac.uk.ORCID http://orcid.org/0009-0002-1657-1089
Sally L SansomEconomics of Population Health Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0001-6331-0602
James BuchananHealth Economics and Policy Research Unit, Centre for Evaluation and Methods, Wolfson Institute of Population Health, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0003-2528-0638
Jenny C TaylorNational Institute for Health Research, Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0003-3602-5704
Sarah WordsworthEconomics of Population Health Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Existing systematic reviews of the health economic evidence for whole-exome and whole-genome sequencing (WES/WGS) are outdated or restricted to specific diseases or populations. This systematic review aims to provide an update on the health economic evidence for these sequencing options across a broad spectrum of clinical applications. We searched bibliographic databases (PubMed/EMBASE/MEDLINE/EconLit), the International Health Technology Assessment database, the Tufts cost-effectiveness analysis registry, and appraisals by the National Institute for Health and Care Excellence and the Scottish Medicines Consortium. We included studies reporting cost and/or cost-effectiveness results of WES and/or WGS, published between July 2016 and May 2024. Outcome-only studies were excluded. Summary information on study characteristics and findings was extracted, tabulated, and analysed. 130 studies were included. Availability of health economic evidence varied between geographic regions and clinical applications. 82 studies evaluated WES/WGS as diagnostic tools, but only five assessed prenatal, newborn, or healthy population screening. Many studies did not follow common methodological and reporting guidelines. Overall, WES/WGS can be cost-effective depending on the clinical and geographical context. The evidence base has grown significantly since 2016, but further evidence is needed, particularly for using these technologies for screening.

Identifiers

PMID42225956

What OpenQuestion holds

Textmetadata
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.