Evidence map›Paper›PMID 29446766›Full record

SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2018

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.

Katharina Schwarze, James Buchanan, Jenny C Taylor, Sarah Wordsworth

Abstract readSystematic Review
PubMed Publisher
In one paragraph

Synthesis in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 296 papers, 11 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
296citing papers in PubMed, 11 pooled it
–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

296 citing papers in PubMed, 11 syntheses or guidelines pooled it.

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  9. A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
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  15. Efficacy of universal genome sequencing in infant extracorporeal membrane oxygenation.Journal of perinatology : official journal of the California Perinatal Association · 2026
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236 more citing papers are in PubMed but not listed here.

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

4 authors.

Katharina SchwarzeHealth Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
James BuchananHealth Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Jenny C TaylorNational Institute for Health Research Oxford Biomedical Research Centre, Oxford, UK.
Sarah WordsworthHealth Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK. sarah.wordsworth@dph.ox.ac.uk.

Funding

Department of HealthWellcome Trust 090532/Z/09/Z
6 · The paper itself

Abstract

purposeWe conducted a systematic literature review to summarize the current health economic evidence for whole-exome sequencing (WES) and whole-genome sequencing (WGS).

methodsRelevant studies were identified in the EMBASE, MEDLINE, Cochrane Library, EconLit and University of York Centre for Reviews and Dissemination databases from January 2005 to July 2016. Publications were included in the review if they were economic evaluations, cost studies, or outcome studies.

resultsThirty-six studies met our inclusion criteria. These publications investigated the use of WES and WGS in a variety of genetic conditions in clinical practice, the most common being neurological or neurodevelopmental disorders. Study sample size varied from a single child to 2,000 patients. Cost estimates for a single test ranged from $555 to $5,169 for WES and from $1,906 to $24,810 for WGS. Few cost analyses presented data transparently and many publications did not state which components were included in cost estimates.

conclusionThe current health economic evidence base to support the more widespread use of WES and WGS in clinical practice is very limited. Studies that carefully evaluate the costs, effectiveness, and cost-effectiveness of these tests are urgently needed to support their translation into clinical practice.

Indexed as

Cost-Benefit AnalysisExomeExome SequencingGenome, HumanHumansWhole Genome Sequencing

Identifiers

PMID29446766

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.