Making better decisions in genomics

Happy New Year everybody. One of my new year’s resolutions is to post more frequently in 2015, and I’m going to start by taking a look at a recently published paper by Susan Snyder and colleagues titled “Economic evaluation of pharmacogenomics: a value-based approach to pragmatic decision making in the face of complexity”. This is a review paper that takes a look at the need for, and current use of economic evaluations in pharmacogenomics, identifying both obstacles to progress and also areas where, actually, we’re doing ok at the moment. There have been a few papers covering similar ground in the past couple of years (interested readers should check out Faulkner et al., Annemans et al. and, in a shameless act of self-promotion, one of my publications) and I think all of them have made a significant contribution to the literature in one way or another. Snyder et al. do so as well. Rather than review their paper in full, I wanted to focus on their unique contribution by pulling out a couple of points of interest that might prompt further discussion.

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Incidental findings in genomic sequencing: a health economics perspective

When this blog began, I mentioned that I would be happy to publish posts by other researchers: different opinions and healthy debate are both welcome here. I’m therefore very pleased to introduce a colleague of mine at the University of Oxford, Jilles Fermont, who discusses some recently published articles on incidental findings in genomic sequencing from a health economics perspective.

Incidental findings (IFs) are a topic of considerable debate, not just in genomic medicine but also in other fields of medicine. To date, few health economists have undertaken any work in this area, but a recent burst of publications suggests that this is beginning to change. This post is primarily prompted by the publication of a paper in Genetics in Medicine earlier in November titled “The cost-effectiveness of returning incidental findings from next-generation genomic sequencing”, authored by Bennette and colleagues. The authors intended to evaluate the clinical and economic impact of IFs in genomic sequencing. The cost-effectiveness analysis (CEA) is restricted and has limitations (see below) but, as the authors already indicated, it is much more of an exploratory study providing policy recommendations on how to deal with IFs from genomic sequencing. Also, it is not a CEA of next-generation sequencing (NGS) but that of the return of IFs. Despite these caveats, it remains an interesting and relevant paper. Those involved or interested in this field are recommended to read it.

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Concepts of ‘personalization’ in personalized medicine: implications for economic evaluation

In my introductory blog post, I noted that genomics might present new challenges for health economics and called for more discussion about appropriate methods in this context. I didn’t anticipate a particularly rapid response, but just a few days after posting I became aware of a new article published in PharmacoEconomics that engaged with many of the issues raised in my introductory post. Titled “Concepts of ‘personalization’ in personalised medicine: Implications for economic evaluations”, this paper reports the results of a workshop which considered where extensions to standard methods might be required in genomics and is a welcome addition to the limited existing literature on this subject. We covered some similar ground in a related paper published in Pharmacogenomics last year, and it is heartening to see that this new paper has reached some similar conclusions and developed a number of these issues further.

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