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

Technological advances have increased the speed and throughput of genomic sequencing over the past two decades, while reducing per‑sample sequencing costs. As a result, whole‑exome sequencing (WES) and whole‑genome sequencing (WGS) are now used more widely across research and clinical settings. However, decisions about whether, when and how they should be adopted into routine clinical practice should depend on robust evidence of their incremental costs and benefits.

In 2018, our research team published a systematic review titled “Are whole‑exome and whole‑genome sequencing approaches cost‑effective? A systematic review of the literature”, which surveyed the health economic evidence available for WES and WGS up until 2016. However, the evidence base has evolved considerably since its publication, as sequencing costs have changed and these technologies have been increasingly used in clinical practice across a variety of diseases and patient populations. Although several reviews have been published in this space since 2016, these have adopted a narrower scope in terms of the clinical areas or populations considered.

To address this gap, we have undertaken an updated systematic review of the literature published between 2016 and 2024, examining the current state of health economic evidence on the costs and cost‑effectiveness of WES and WGS across a broad range of clinical populations.

The review, currently under consideration for publication, provides a comprehensive and accessible summary of the current evidence base and is designed to be informative for audiences with various levels of expertise in health economics.

Our findings highlight the rapid growth in the health economic evidence available for these technologies, while noting that many studies have important methodological and reporting limitations. We conclude that the available evidence on the costs and cost‑effectiveness of implementing WGS/WES in clinical practice is less limited than in 2016, while also highlighting areas where additional research is still needed.

Funder: National Institute for Health and Care Research Biomedical Research Centre: Oxford 

Visit the NIHR BRC: Oxford website for more information.