genome sequencing

New publications in health economics and genomics 9th June 2020

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I’ve been sharing weekly updates of new publications in health economics and genomics on social media for a few weeks, but thought it would be useful if I also presented these updates in weekly blog posts.

There are 2 new publications this week:

As I’m putting these in a blog post for the first time, here are the latest publications from the past four weeks too: Continue reading →

New special theme section in Value in Health on Precision Medicine

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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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Are the costs of genome sequencing underestimated?

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Four years ago I blogged on how “The $1000 genome is a myth”. I think the first paragraph from that blog post is as relevant today as it was in 2015:

Barely a day goes by without a news story or social media post proclaiming that the $1000 genome now exists, and is ushering in a healthcare revolution. Every day, somebody, somewhere in the world, posts these graphs on Twitter. There’s even a Wikipedia page devoted to this topic. It’s a persistent news headline and, frustratingly, it’s currently wrong.

Since 2015, the health economic evidence base for genome sequencing has gradually expanded, and several cost estimates are now available, but overall I think we still lack the sort of rigorously conducted microcosting studies that can usefully inform resource allocation decisions regarding genomic testing.

Hopefully this paper that we published in Genetics in Medicine a couple of weeks’ ago can make such a contribution.

Continue reading →

Do health professionals value genomic testing?

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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.

Continue reading →