The latest HERU blog post highlights our recent article on the cost and value of Whole Genomic Sequencing (WGS) for rare disease diagnosis in Scotland. The article has been published online in the Journal of Community Genetics and is available via open access. The article and the blog post describe on-going research, funded by the Chief Scientist Office, to undertake an economic evaluation of WGS. Our work on developing cost estimates for WGS is described and we look at how we will incorporate the value of WGS to service users in our health economic analysis.
The blog post is timely as the results of a pilot study from the 100,000 Genomes Project have been published in the New England Journal of Medicine indicating the effectiveness of WGS as a method of diagnosing rare conditions that are otherwise not confirmed. We hope our research can add to the evidence base on the costs and benefits of WGS and guide the development of a Scottish genetic and genomic testing strategy.