Evaluating the Outcomes Associated with Genomic Sequencing

I’ve written about evaluating the outcomes of genomic sequencing a few times in this blog, in the context of several different publications. A key issue here is that we still lack evidence on the health outcomes associated with sequencing, and a commonly cited reason for this is that health economists are unsure as to whether the QALY can fully quantify the outcomes that are important to patients when they undergo genomic testing. There isn’t a great deal of consensus on this matter, or on the issue of whether information on personal utility should feed into resource allocation decisions in this context. This methodological uncertainty may partially explain why existing economic evaluations of genomic sequencing have not gone beyond ‘narrow’ outcome measures such as diagnostic yield.

However, before abandoning QALYs in this clinical context (if this is even possible), I think there are several steps that can and should be taken to improve the evidence base on the clinical and non-clinical utility of genomic sequencing. With this in mind, I recently published an editorial in PharmacoEconomics – Open with Sarah Wordsworth titled “Evaluating the Outcomes Associated with Genomic Sequencing: A Roadmap for Future Research”, in which we expand on what these steps might be. I think this topic should be debated more widely, so if anybody has alternative views on this I’d be happy to hear them!

Just published: Value In Health theme section on assessing the value of clinical genomic testing

Around 12 months ago I joined an exciting new venture: the Population Genomics Health Economists Working Group. This group is made up of health economists and policy researchers from major institutions across the globe who have been at the forefront of the incorporation of genomics into clinical care. The group is chaired by Kathryn A. Phillips, PhD, Director of the Center for Translational and Policy Research on Personalized Medicine (TRANSPERS) at the University of California. You can find out more about the group members here.

The first key output from this working group has been published today: a themed section in the September issue of Value in Health which addresses the challenges and solutions for assessment of the value of clinical genomic testing.

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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!

Medicine’s future? The health economics of population-wide genomic screening

The latest issue of Science contains an interesting and lengthy article on how Geisinger are trying to integrate genomic screening into routine care in Pennsylvania, USA. Although this is an exciting area of research, and the business model surrounding these innovative approaches to genomic sequencing is quite interesting, I have a number of reservations about the cost-effectiveness of population-wide genomic screening.

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New PhD opportunity in health economics and genomics

I’m pleased to announce that we are offering a DPhil (PhD) position here at the Health Economics Research Centre in the area of health economics and genomics. The proposed start date is October 2017 and the full title is “Linking genomic and clinical data in health economic evaluations: identifying challenges and exploring potential solutions“.

The aim of this DPhil project is to comprehensively investigate the challenges and opportunities in this area using data from the 100,000 Genomes Project, with an emphasis on rare diseases.

The deadline for applications is 1200 noon UK time on Friday 6th January 2017.

If anybody has any questions about this project then please don’t hesitate to get in touch by email (james.buchanan@dph.ox.ac.uk). Please also share the details of this project with anybody who you think might be interested.

Full details of this project are available here.

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Patient Preferences for Genomic Diagnostic Testing

I recently completed my PhD work which considered the issues surrounding the economic analysis of genomic diagnostic technologies in the UK NHS, and I hope to publish as much of this work as possible over the next year or so. The first paper reporting the results of this work was published in 2013 in Pharmacogenomics (“Issues surrounding the health economic evaluation of genomic technologies”) and the second paper was published in PharmacoEconomics in 2015 (“Welfarism versus extra-welfarism: can the choice of economic evaluation approach impact on the adoption decisions recommended by economic evaluation studies?”). I’m please to say that the third paper arising from this work was published last week in The Patient (“Patients’ Preferences for Genomic Diagnostic Testing in Chronic Lymphocytic Leukaemia: A Discrete Choice Experiment”). Continue reading