New special theme section in Value in Health on Precision Medicine

In 2018, I contributed to the publication of a special theme section in Value in Health on assessing the value of clinical genomic testing. You can read a blog post about this publication here, and access the special issue here. My contribution to this was as a member of the Global Economics and Evaluation of Clinical Genomics Sequencing Working Group (GEECS), formerly known as the Population Genomics Health Economists Working Group.

I’m pleased to say that we have just published a second theme section in the same journal, this time focused on evaluation methods for moving precision medicine into practice and policy. This theme section features five papers from the GEECS team and one paper by the ISPOR Special Interest Group on Precision Medicine and Advanced Therapies. As before, the work was chaired by Kathryn A. Phillips, PhD.

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Are the costs of genome sequencing underestimated?

August 14, 2019 James Buchanan Publication $1000 genome, cancer, costs, genome sequencing, genomic technologies, genomics, health economics, rare disease, whole genome sequencing

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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Evaluating the Outcomes Associated with Genomic Sequencing

October 10, 2018June 12, 2019 James Buchanan Publication genomic sequencing, genomics, health outcomes, outcomes, personal utility, QALYs, sequencing, WES, WGS, whole exome sequencing, whole genome sequencing

I’ve written about evaluating the outcomes of genomic sequencing a few times in this blog, in the context of several different publications. A key issue here is that we still lack evidence on the health outcomes associated with sequencing, and a commonly cited reason for this is that health economists are unsure as to whether the QALY can fully quantify the outcomes that are important to patients when they undergo genomic testing. There isn’t a great deal of consensus on this matter, or on the issue of whether information on personal utility should feed into resource allocation decisions in this context. This methodological uncertainty may partially explain why existing economic evaluations of genomic sequencing have not gone beyond ‘narrow’ outcome measures such as diagnostic yield.

However, before abandoning QALYs in this clinical context (if this is even possible), I think there are several steps that can and should be taken to improve the evidence base on the clinical and non-clinical utility of genomic sequencing. With this in mind, I recently published an editorial in PharmacoEconomics – Open with Sarah Wordsworth titled “Evaluating the Outcomes Associated with Genomic Sequencing: A Roadmap for Future Research”, in which we expand on what these steps might be. I think this topic should be debated more widely, so if anybody has alternative views on this I’d be happy to hear them!

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

September 17, 2018June 12, 2019 James Buchanan Publication big data, costs, diagnostic tests, economic evaluation, economics, genomic testing, genomics, health, health care, healthcare, insurance, insurer, next generation sequencing, outcomes, sequencing, value, valueinhealth, whole genome sequencing

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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Are whole-exome and whole-genome sequencing approaches cost-effective?

February 16, 2018June 12, 2019 James Buchanan Publication cost-effectiveness, costs, genetics, genomic technologies, genomics, health economics, precision medicine, whole exome sequencing, whole genome sequencing

Yesterday, we published an article in Genomics in Medicine titled: “Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature”. The lead author for this work was Katharina Schwarze, who spent several months at HERC working on a project related to the costs of whole genome sequencing.

The aim of this particular piece of work was to summarise the current health economic evidence for whole-exome sequencing (WES) and whole-genome sequencing (WGS). The key finding was that the current health economic evidence base to support the more widespread use of WES and WGS in clinical practice is very limited. Other important findings include the following:

Cost estimates for a single test ranged from $555 to $5,169 for WES and from $1,906 to $24,810 for WGS.
There was no evidence that the cost of WES was falling over time, and only limited evidence that the cost of WGS was decreasing.
Few studies used outcome measures recommended for use in economic evaluations, such as survival or quality of life.
Only eight publications were full economic evaluations, of which only five produced evidence that WES or WGS may represent a cost-effective use of limited health-care resources.

We conclude by making four practical recommendations:

Future studies should report costs by stage of testing for WES and WGS and highlight particularly notable costs, as it is currently difficult to identify key cost drivers.
Future studies should report resource use and unit costs in a disaggregated manner to aid interpretation.
Future studies evaluating the cost-effectiveness of WES or WGS should use calculated costs instead of prices, to better capture the economic value associated with WES and WGS, and to avoid incorrect and inefficient adoption decisions.
Future studies of the cost-effectiveness of WES and WGS should include trained health economists as coinvestigators to improve study quality.

This paper challenges a number of assumptions in the literature and in the wider conversation regarding the cost and potential value of next generation sequencing technologies. I hope you’ll read, share, and debate these findings!

Medicine’s future? The health economics of population-wide genomic screening

October 26, 2017 James Buchanan Other cancer, cardiovascular disease, cost-effectiveness, costs, geisinger, genomic screening, genomics, health economics, usa, whole exome sequencing, whole genome sequencing

The latest issue of Science contains an interesting and lengthy article on how Geisinger are trying to integrate genomic screening into routine care in Pennsylvania, USA. Although this is an exciting area of research, and the business model surrounding these innovative approaches to genomic sequencing is quite interesting, I have a number of reservations about the cost-effectiveness of population-wide genomic screening.

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Whole genome sequencing costs – a step in the right direction

June 12, 2017 James Buchanan Paper review autism, children, cost-effectiveness, costs, decision-making, economic evaluation, evidence, genomic testing, health economics, healthcare, paediatric, tsiplova, WES, WGS, whole exome sequencing, whole genome sequencing

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?

July 18, 2016July 18, 2016 James Buchanan Paper review contingent valuation, genetics, genomic technologies, genomic testing, genomics, health care, health economics, healthcare, preferences, whole genome sequencing

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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Health economic perspectives of genomics

December 7, 2015October 13, 2016 James Buchanan Other book, book chapter, genetics, genomic technologies, genomic testing, genomics, health economics, perspectives, society, whole genome sequencing

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.

The $1000 genome is a myth

April 28, 2015July 16, 2015 James Buchanan Paper review $1000 genome, costs, decision-making, genomic testing, Incidental findings, Kathryn Phillips, whole genome sequencing

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 →

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