Do health professionals value genomic testing?

Apologies for the lack of activity on this blog. The amount of time I have for writing blog posts has reduced considerably over the past few months! I do hope to begin writing more general blog posts again soon, but I’m checking in today to highlight a paper that we published this week in the European Journal of Human Genetics.

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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!