I’m pleased to share that today we have published a review article in Nature Medicine on approaches to determining the value of genomics in healthcare (link). This work was led by Zornitza Stark and Ilias Goranitis, with contributions from myself and many esteemed co-authors from around the world.
The seeds for this paper were planted in Autumn 2024 when the GA4GH National Initiatives Forum organised a virtual workshop on “Measuring the value of genomics in healthcare”. The aim of this workshop was to exchange strategies, tools and experiences in measuring the value of genomic testing in healthcare. I was pleased to be asked to speak at the event, on “Measuring the value of genomic population screening”, alongside Kathryn North, Richard Scott, Robin Hayeems, Brian Chung, Claudia Chung, Zornitza and Ilias. There was a lively discussion, and the webinar recording is still available to watch here.
In discussions following the webinar, we realised that although we have all done a lot of work on this broad topic, there was a gap in the literature for an overarching paper that summarised existing evidence and proposed future research directions. So we set out to write this paper!
We begin by conceptualising the various domains of genomic utility, before considering the approaches to measurement and valuation that have been applied to date. Determining value is a crucial step in genomic test reimbursement pathways worldwide, so we then summarise the strengths and weaknesses of existing approaches, before suggesting solutions to some of these challenges. We also consider different routes to delivering value when implementing genomics, through differential organisation of services and data management. We then emphasise the need for learning healthcare systems in this context, and the need to potentially consider broader measures of value beyond the healthcare system.
We cover a lot of ground in this paper! We hope it is a useful read. One key take-home message is that there is a lot of work still to be done to build the evidence base on the value of genomics, in partiular in diverse settings. We hope that health economists and health systems take up this challenge.
Health Economics and Genomics 