genomic testing

Availability and funding of clinical genomic sequencing globally

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Just a quick post to share details of a new paper that was published yesterday in BMJ Global Health.

Phillips KA, Douglas MP, Wordsworth S, et al Availability and funding of clinical genomic sequencing globally BMJ Global Health 2021;6:e004415. Link

This is the latest ouput from the Global Economics and Evaluation of Clinical Genomics Sequencing (GEECS) Working Group, of which I am a founding member.

Our aim in this paper was to examine genome sequencing availability across world regions and countries, using three exemplar countries (UK, Canada, USA) to identify data gaps & funding challenges for implementation. We found that these tests are available or becoming available in every major region of the world, with growing availability in countries with upper-middle-income economies. We conclude by assessing what type of data and initiatives will be needed to better track and understand the use of NGS around the world as such testing continues to expand.

Just published: Value In Health theme section on assessing the value of clinical genomic testing

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Around 12 months ago I joined an exciting new venture: the Population Genomics Health Economists Working Group. This group is made up of health economists and policy researchers from major institutions across the globe who have been at the forefront of the incorporation of genomics into clinical care. The group is chaired by Kathryn A. Phillips, PhD, Director of the Center for Translational and Policy Research on Personalized Medicine (TRANSPERS) at the University of California. You can find out more about the group members here.

The first key output from this working group has been published today: a themed section in the September issue of Value in Health which addresses the challenges and solutions for assessment of the value of clinical genomic testing.

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Using genomic information to guide ibrutinib treatment decisions in chronic lymphocytic leukaemia

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A quick update for you on my PhD publications. Last year, I completed my PhD which considered the issues surrounding the economic analysis of genomic diagnostic technologies in the UK NHS. So far, I have published three papers reporting the results of this work:

I am pleased to be able to report that the fourth paper arising from my PhD work was published today in PharmacoEconomics, titled: “Using genomic information to guide ibrutinib treatment decisions in chronic lymphocytic leukaemia: A cost-effectiveness analysis“.

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Whole genome sequencing costs – a step in the right direction

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

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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

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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

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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

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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).

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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.

Genomics at the 2015 iHEA meeting in Milan

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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

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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 →