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!

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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Whole genome sequencing costs – a step in the right direction

It is now well documented that health economic evidence to inform commissioning decisions regarding genomic tests is in short supply. This lack of evidence relates to both costs and health outcomes – there is perhaps an understandable tendency to focus on the issues surrounding the measurement of health outcomes in genomics, but data on costs is equally sparse and the generation of such data is also beset by practical and methodological challenges. That said, in the past twelve months we have started to finally see some good quality data emerging on the costs of whole genome and whole exome sequencing, and a recent paper by Kate Tsiplova and colleagues has made a notable contribution to this literature.

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