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

Summary

This review, published in the European Journal of Human Genetics, looks at how much whole-exome sequencing and whole-genome sequencing cost, and whether they give good value for money. The authors reviewed 130 studies from many countries and found that these tests can be cost-effective in some settings, especially when they help find a diagnosis. They also found that there is still not much evidence for using them in screening, such as in newborns or healthy people.

The paper says the evidence has grown a lot since 2016, but many studies do not follow the usual reporting rules. Overall, it suggests that these DNA tests can be worth using, but the answer depends on the situation and more evidence is still needed.

Keywords: whole-exome sequencing, whole-genome sequencing, cost, cost-effectiveness, health economics, systematic review, diagnosis, screening.

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Existing systematic reviews of the health economic evidence for whole-exome and whole-genome sequencing (WES/WGS) are outdated or restricted to specific diseases or populations.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.