New iHEA Special Interest Group on the Economics of Genomics and Precision Medicine (Econ-Omics)

I’m pleased to report that the International Health Economics Association (iHEA) have recently approved a new Special Interest Group (SIG) focusing on the Economics of Genomics and Precision Medicine (Econ-Omics). I am one of the three founders and lead conveners of this SIG, alongside Ilias Goranitis and Deirdre Weymann.

The aim of the Econ-Omics SIG is to bring together interested researchers around the world to build health economics capacity, advance methods, and facilitate communication and generation of the health economics evidence required to underpin the appropriate widespread use of genomic information in clinical practice. You can find more information about this SIG on our webpage, and you can stay up to date with our news and activities via our Twitter account here.

We have planned a number of exciting initiatives and activities and we’re looking forward to moving these forward over the coming months. These include:

  • An Econ-Omics blog and a quarterly newsletter
  • An annual symposium
  • Coordination of organised sessions at the iHEA Congress
  • A regular webinar series
  • Investigating opportunities for cross-country and cross-regional mentoring of ECRs
  • Sharing of teaching materials related to genomics and precision medicine

Membership is open to all iHEA members who are interested in the economics of genomics and precision medicine. You can join the SIG by logging into the iHEA website, selecting the “groups” section and clicking “request to join” the Economics of Genomics and Precision Medicine SIG (Econ-Omics). We particularly encourage expressions of interest to support the SIG in a convener role – please get in touch if this is of interest.

New special theme section in Value in Health on Precision Medicine

In 2018, I contributed to the publication of a special theme section in Value in Health on assessing the value of clinical genomic testing. You can read a blog post about this publication here, and access the special issue here. My contribution to this was as a member of the Global Economics and Evaluation of Clinical Genomics Sequencing Working Group (GEECS), formerly known as the Population Genomics Health Economists Working Group.

I’m pleased to say that we have just published a second theme section in the same journal, this time focused on evaluation methods for moving precision medicine into practice and policy. This theme section features five papers from the GEECS team and one paper by the ISPOR Special Interest Group on Precision Medicine and Advanced Therapies. As before, the work was chaired by Kathryn A. Phillips, PhD.

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HERC database of health economics and genomics studies launched today

An increasing number of qualitative and quantitative research papers in health economics and genomics have been published in recent years. To keep track of these publications, and to have a useful summary of available publications at hand, researchers at HERC have set up a database of health economics and genomics studies. I have helped to set up this database, as has Sarah Wordsworth, but a first-year PhD student, Patrick Fahr, has undertaken most of the hard work and should receive the lion’s share of the credit!

Database screenshot 09May18

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Are whole-exome and whole-genome sequencing approaches cost-effective?

Yesterday, we published an article in Genomics in Medicine titled: “Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature”. The lead author for this work was Katharina Schwarze, who spent several months at HERC working on a project related to the costs of whole genome sequencing.

The aim of this particular piece of work was to summarise the current health economic evidence for whole-exome sequencing (WES) and whole-genome sequencing (WGS). The key finding was that the current health economic evidence base to support the more widespread use of WES and WGS in clinical practice is very limited. Other important findings include the following:

  • Cost estimates for a single test ranged from $555 to $5,169 for WES and from $1,906 to $24,810 for WGS.
  • There was no evidence that the cost of WES was falling over time, and only limited evidence that the cost of WGS was decreasing.
  • Few studies used outcome measures recommended for use in economic evaluations, such as survival or quality of life.
  • Only eight publications were full economic evaluations, of which only five produced evidence that WES or WGS may represent a cost-effective use of limited health-care resources.

We conclude by making four practical recommendations:

  1. Future studies should report costs by stage of testing for WES and WGS and highlight particularly notable costs, as it is currently difficult to identify key cost drivers.
  2. Future studies should report resource use and unit costs in a disaggregated manner to aid interpretation.
  3. Future studies evaluating the cost-effectiveness of WES or WGS should use calculated costs instead of prices, to better capture the economic value associated with WES and WGS, and to avoid incorrect and inefficient adoption decisions.
  4. Future studies of the cost-effectiveness of WES and WGS should include trained health economists as coinvestigators to improve study quality.

This paper challenges a number of assumptions in the literature and in the wider conversation regarding the cost and potential value of next generation sequencing technologies. I hope you’ll read, share, and debate these findings!