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.

I’m very pleased to share the publication of a special themed issue of Applied Health Economics and Health Policy on the “Health Economics of Genomic Technologies” that I co-edited with Deirdre Weymann and Ilias Goranitis.

https://link.springer.com/journal/40258/volumes-and-issues/23-3

This special issue contains 12 papers that summarise existing evidence on the value attached to the use of genomic technologies in a variety of clinical contexts, and present new health evidence for the USA, Australia, Canada, Scotland and Thailand.

We have also written an accompanying editorial that reflects on the findings in these papers, and highlights challenges and opportunities on the horizon for health economists.

https://link.springer.com/article/10.1007/s40258-025-00970-z

Here are the concluding comments:

The 12 papers in this themed issue provide a comprehensive overview of the current evidence base and research focus of the field of health economics and genomics, which has evolved considerably over the past two decades. Today, a growing number of health economists apply cutting-edge methods to value the costs and benefits of innovative genomic interventions with the potential to transform population health and well-being.

However, there are challenges on the horizon. Many of the publications in this themed issue have clear policy relevance, but the extent to which economic evidence actually informs healthcare decision making in this clinical context is unclear, particularly non-traditional health technology assessment evidence on patient preferences and evidence derived from real-world data. While some jurisdictions are signalling increasing acceptability of patient preference information and real-world evidence for health technology regulation and reimbursement, apprehension remains. Formal, harmonised, stakeholder-driven guidance is needed to ensure uptake of this health economic evidence into precision medicine decision making.

A second challenge is the pace at which new applications of genomic technologies are emerging. The papers in this special issue broadly consider the value of genomic information in specific cancer, rare disease or chronic disease contexts. These cases likely represent just a subset of all future applications. There is growing interest in understanding the costs and benefits of newborn genome sequencing, polygenic risk scores, and multi-cancer early detection tests. In health economics more generally there is a move towards equity informative economic evaluation, and genomics is one context in which issues around equity and fairness may fundamentally impact on estimates of value. Finally, there is a growing need to understand the value of genomics at the population (macro) level, as well as in specific geographic contexts such as lower- and middle-income country settings. To date, health economists have undertaken little to no research on these topics for genomics. This should change in the coming years, and we are excited to see how this field of research continues to develop in the next decade.

All thoughts welcome!

HERC are currently advertising vacancies for two researchers in health economics (https://www.herc.ox.ac.uk/about/work-with-us).

These researchers will work across multiple projects, one of which is a project with me, titled: “Psychometric assessment of EQ-5D-5L, EQ-HWB and EQ-5D-Y-5L in rare genetic diseases”.

Genomic testing is starting to be translated into clinical practice for people with rare genetic diseases. In England, the National Health Service has recently launched a new Genomic Medicine Service. However, data on the outcomes of genomic testing is sparse, and there is uncertainty regarding the appropriate outcome measures to use. Data on the use of both established and new instruments, such as the EQ-5D-5L, EQ-HWB and EQ-5D-Y-5L, would inform more robust health technology assessment decisions in this context. This work will involve assessing the psychometric properties of the EQ-5D-5L, EQ-HWB, and EQ-5D-Y-5L instruments in adult patients and parents of children with lived experience of rare genetic diseases using mixed methods. Recruitment for this study will take place in both England and Australia, in conjunction with collaborators at the University of Melbourne, lead by Ilias Goranitis.

The closing date for applications is 12.00 noon on Thursday 03 November 2022.

If you have any questions, or would like to discuss the vacancy, please email me at james.buchanan@dph.ox.ac.uk