Are the costs of genome sequencing underestimated?

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.

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Blog posts welcome!

When I started this blog in 2014 I wanted to provide a forum for the discussion of issues surrounding the health economic analysis of genomic technologies. I knew that I would start off by writing most of the blog posts, but my plan in the medium-term was to invite researchers from all backgrounds to contribute posts. However, this was not something I ever really got around to publicising. Consequently there has only been one guest post since this blog began.

I have less time to write for the blog now, so this seems like a good opportunity to put the call out for more guest posts. If you would like to contribute a post on any topic related to health economics and genomics, please get in touch. You can do this via the contact form, or via a DM on Twitter, or via my email address. There are no restrictions on the topic of posts: these could be paper reviews, comments on current issues in the field, editorial type posts, methods discussions or even debate-type posts. If you have something to say on health economics and genomics that requires more space than the 280 characters offered by Twitter, but isn’t quite right for a formal peer-reviewed paper, then this could be the format for you. I do not intend/want to edit any posts other than to do some light touch editing to fix typos etc.: there is no blog ‘voice’, and all opinions are welcome.

If you are interested in contributing, please get in touch!

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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