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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Health economics, genomics and the value of knowing

In July 2016, the Office for Health Economics and the European Personalised Medicine Association published a white paper titled: “The Value of Knowing and Knowing the Value: Improving the Health Technology Assessment of Complementary Diagnostics”. This publication did not receive a great deal of attention at the time, but it raises some interesting points related to genomic testing that are worthy of consideration by a wider audience. In particular, it highlights several things that we currently do reasonably well in health economics and genomics, as well as some areas in which we need to improve evidence generation, suggesting a future research agenda in this field.

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What are people willing to pay for whole genome sequencing information?

Given the wide variety of health and non-health outcomes associated with genomic tests, it is perhaps particularly important that the preferences of key stakeholders are considered within the health technology assessment process for these interventions. Indeed, in a paper published last year, Rogowski et al. highlight the importance of ‘preference-based personalization’ in this context. To date, few studies have generated data on preferences for genomic tests. However, a recent publication in Genetics in Medicine by Deborah Marshall and colleagues has attempted to address this gap in the literature.

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Priority setting and genomic testing

I’m currently working on a project which is identifying the key barriers which are slowing down the translation of whole genome sequencing into clinical practice, and as a result I’ve been digging into the literature on priority setting and genomics (on the basis that one barrier might be resource constraints). To be honest, this hasn’t taken a lot of time, as it’s not a particularly well-researched area. That said, there were two specific papers that have informed the development of our work in this area, and I thought it might be interesting to bring these to the attention of a wider audience. Continue reading

The cost-effectiveness of next generation sequencing in colorectal cancer

So, apologies again for the radio silence. Good news though: the PhD has finally been submitted! That’s not quite the end of that chapter in my life though, as I still have a viva to complete and six more publications to prepare to add to the two that have been published in the last 18 months or so. Hopefully I’ll be able to share more of my PhD outputs from the start of 2016 onwards, depending (of course) on the vagaries of the peer-review process.

Anyway, I now have time to read and then write about all of the publications that I’ve been putting to one side over the last few months. I’m going to start with a paper by Carlos Gallego et al. which was published in JCO in May, and which considered the cost-effectiveness of next generation sequencing (NGS) panels for the diagnosis of colorectal cancer and polyposis (CRCP) syndromes.

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The $1000 genome is a myth

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. Continue reading

What are the real costs of sequencing?

I normally steer well clear of the topic of sequencing in newborn babies because this area raises so many social, legal and ethical questions that go way beyond the clinical/economics perspective that we’re used to considering. However, I read an interesting commentary piece the other day by Jacques Beckmann titled ‘Can we afford to sequence every newborn baby’s genome?’ which I think deserves a wider audience for two reasons. One, it reminded me of a comment that Professor Sir John Burn (director, NHS England) made during the recent Astellas Innovation Debate in London. Jonathan Dimbleby asked if he could see whole genome sequencing (WGS) being rolled out to everyone across the UK, to which he replied: “the reality is that even when we get the 100,000 Genomes Project fully operational and get it absorbed, we’ll only be doing maybe 30,000-50,000 whole genomes a year – we’d have to do 600,000 a year to catch up with the new babies”. Second, I think there are some points raised in this article that go beyond newborn screening and are directly applicable to the economic evaluation of genomic testing in a variety of clinical contexts.

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