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Determining the value of genomics in healthcare

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Today we are pleased to share that we have published a review article. natural medicine Approaches to Determining the Value of Genomics in Healthcare (link). This work was led by Zornitza Stark and Ilias Goranitis, with help from me and many respected co-authors from around the world.

The seeds of this paper were planted in the fall of 2024. GA4GH National Initiative Forum A virtual workshop was held on “Measuring the Value of Genomics in Healthcare”. The purpose of this workshop was to exchange strategies, tools and experiences to measure the value of genomic testing in healthcare. I was delighted to be asked to speak at the event on “Measuring the Value of Genomic Population Testing” along with Kathryn North, Richard Scott, Robin Hayeems, Brian Chung, Claudia Chung, Zornitza, and Ilias. There was lively discussion and a recording of the webinar is still available for viewing. here.

In discussions following the webinar, we realized that although much work has been done on this broad topic, there is a gap in the literature for a comprehensive paper that summarizes existing evidence and suggests future research directions. So we started writing this paper!

We begin by conceptualizing the different areas of genomic utility before considering approaches to measurement and valuation applied to date. Determining value is a critical step in the genomic testing reimbursement pathway globally, so we summarize the strengths and weaknesses of existing approaches before proposing solutions to these challenges. When implementing genomics, we also consider different paths to delivering value through differentiated service composition and data management. We then highlight the need to study health systems in this context and potentially consider broader measures of value beyond health systems.

We cover a lot in this article! I hope you find this book a useful read. One key message is that there is still much work to be done to build an evidence base on the value of genomics, especially in diverse settings. We hope that health economists and health systems will join us in taking on this challenge.



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