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!

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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