New publications in health economics and genomics 21st July 2020

One publication this week:

  • Next generation use in Oncology, a better information on patients’ genetic profiles improved access to matched treatments and earlier NGS use show better outcomes | link

I’m happy to share any other publications from this week that I’ve missed – just let me know.

New publications in health economics and genomics 14th July 2020

Three publications this week:

  • PARC report: health outcomes and value of personalized medicine interventions: impact on patient care | link
  • The Daunting Economics of Therapeutic Genome Editing | link
  • Cost-effectiveness analysis of pharmacogenomics-guided clopidogrel treatment in Spanish patients undergoing percutaneous coronary intervention | link

I’m happy to share any other publications from this week that I’ve missed – just let me know.

New publications in health economics and genomics 7th July 2020

No publications last week, but five (well, kind of) this week:

  • Costs of In-House Genomic Profiling and Implications for Economic Evaluation: A Case Example of Non-Small Cell Lung Cancer (NSCLC) | link
  • Multi-gene Assays: Effect on Chemotherapy Use, Toxicity and Cost in Estrogen Receptor-Positive Early Stage Breast Cancer | link
  • Ending the Diagnostic Odyssey—Is Whole-Genome Sequencing the Answer? | link
  • Economic Value of Exome Sequencing for Suspected Monogenic Disorders [letter] | link
  • Response to Ferket Et Al [response to letter] | link

I’m happy to share any other publications from this week that I’ve missed – just let me know.

New publications in health economics and genomics 23rd June 2020

No publications last week, but a glut of new publications related to multi-gene panels this week, four in total:

  • Cost-Effectiveness of Multigene Pharmacogenetic Testing in Patients With Acute Coronary Syndrome After Percutaneous Coronary Intervention | link
  • Projected Cost-Effectiveness for 2 Gene-Drug Pairs Using a Multigene Panel for Patients Undergoing Percutaneous Coronary Intervention | link
  • Cost Effectiveness of Multigene Panel Sequencing for Patients With Advanced Non-Small-Cell Lung Cancer | link
  • Incorporating Tumor Characteristics to Maximize 21-Gene Assay Utility: A Cost-Effectiveness Analysis | link

I’m happy to share any other publications from this week that I’ve missed – just let me know.

An odd paper: Next-Generation Sequencing for Diagnosing Periprosthetic Joint Infection

One of the new publications that appeared in my searches this week was this paper on “Next-Generation Sequencing vs Culture-Based Methods for Diagnosing Periprosthetic Joint Infection After Total Knee Arthroplasty: A Cost-Effectiveness Analysis”, published in The Journal of Arthroplasty. I wrote about it on this Twitter thread, but I just wanted to expand on a couple of points here.

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New publications in health economics and genomics 9th June 2020

I’ve been sharing weekly updates of new publications in health economics and genomics on social media for a few weeks, but thought it would be useful if I also presented these updates in weekly blog posts.

There are 2 new publications this week:

As I’m putting these in a blog post for the first time, here are the latest publications from the past four weeks too: Continue reading

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

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:

  1. 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.
  2. Future studies should report resource use and unit costs in a disaggregated manner to aid interpretation.
  3. 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.
  4. 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

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

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

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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