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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Patient Preferences for Genomic Diagnostic Testing

I recently completed my PhD work which considered the issues surrounding the economic analysis of genomic diagnostic technologies in the UK NHS, and I hope to publish as much of this work as possible over the next year or so. The first paper reporting the results of this work was published in 2013 in Pharmacogenomics (“Issues surrounding the health economic evaluation of genomic technologies”) and the second paper was published in PharmacoEconomics in 2015 (“Welfarism versus extra-welfarism: can the choice of economic evaluation approach impact on the adoption decisions recommended by economic evaluation studies?”). I’m please to say that the third paper arising from this work was published last week in The Patient (“Patients’ Preferences for Genomic Diagnostic Testing in Chronic Lymphocytic Leukaemia: A Discrete Choice Experiment”). Continue reading

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

Health economic perspectives of genomics

Just a quick note to say that a book titled “Genomics and Society; Ethical, Legal-Cultural, and Socioeconomic Implications” was published today (available on Amazon here).


In this book you can find a chapter that I co-wrote with Dr Sarah Wordsworth from HERC and Professor Adrian Towse from the Office of Health Economics titled “Health economic perspectives of genomics”. You can read the chapter via Google Books here, and you may also be able to download a copy here, depending on your institutional access. I hope it is of interest.

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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Genomics at the 2015 iHEA meeting in Milan

Apologies for the recent lack of blog posts. It turns out it takes a lot of effort to get a PhD written up alongside other research commitments. Normal service will be resumed very soon. For now, a few quick notes on the International Health Economics Association meeting in Milan which has just concluded. Specifically, this is a quick review of the presentations that I attended which had a link (however tenuous!) to genomics. Continue reading

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