Special themed journal issue on the health economics of genomic technologies

I’m very pleased to share the publication of a special themed issue of Applied Health Economics and Health Policy on the “Health Economics of Genomic Technologies” that I co-edited with Deirdre Weymann and Ilias Goranitis.

https://link.springer.com/journal/40258/volumes-and-issues/23-3

This special issue contains 12 papers that summarise existing evidence on the value attached to the use of genomic technologies in a variety of clinical contexts, and present new health evidence for the USA, Australia, Canada, Scotland and Thailand.

We have also written an accompanying editorial that reflects on the findings in these papers, and highlights challenges and opportunities on the horizon for health economists.

https://link.springer.com/article/10.1007/s40258-025-00970-z

Here are the concluding comments:

The 12 papers in this themed issue provide a comprehensive overview of the current evidence base and research focus of the field of health economics and genomics, which has evolved considerably over the past two decades. Today, a growing number of health economists apply cutting-edge methods to value the costs and benefits of innovative genomic interventions with the potential to transform population health and well-being.

However, there are challenges on the horizon. Many of the publications in this themed issue have clear policy relevance, but the extent to which economic evidence actually informs healthcare decision making in this clinical context is unclear, particularly non-traditional health technology assessment evidence on patient preferences and evidence derived from real-world data. While some jurisdictions are signalling increasing acceptability of patient preference information and real-world evidence for health technology regulation and reimbursement, apprehension remains. Formal, harmonised, stakeholder-driven guidance is needed to ensure uptake of this health economic evidence into precision medicine decision making.

A second challenge is the pace at which new applications of genomic technologies are emerging. The papers in this special issue broadly consider the value of genomic information in specific cancer, rare disease or chronic disease contexts. These cases likely represent just a subset of all future applications. There is growing interest in understanding the costs and benefits of newborn genome sequencing, polygenic risk scores, and multi-cancer early detection tests. In health economics more generally there is a move towards equity informative economic evaluation, and genomics is one context in which issues around equity and fairness may fundamentally impact on estimates of value. Finally, there is a growing need to understand the value of genomics at the population (macro) level, as well as in specific geographic contexts such as lower- and middle-income country settings. To date, health economists have undertaken little to no research on these topics for genomics. This should change in the coming years, and we are excited to see how this field of research continues to develop in the next decade.

All thoughts welcome!

New publications in health economics and genomics 29th April 2025

Two publications over the past week:

  • The Health Economics of Genomic Technologies: A Growing Evidence Base on Value | link
  • Rapid Genome Sequencing Compared to a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation | link

I’m happy to share any other publications from this week that I’ve missed – just let me know. I publish these updates weekly, on a Tuesday, but only if I’ve seen relevant publications. If you don’t see an update on a Tuesday, assume it has been a quiet week for publications in health economics and genomics.

New publications in health economics and genomics 22nd April 2025

Two publications over the past week:

  • Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results | link
  • Rapid Whole-Genome Sequencing as a First-Line Test Is Likely to Significantly Reduce the Cost of Acute Care in a Private Payer System | link

I’m happy to share any other publications from this week that I’ve missed – just let me know. I publish these updates weekly, on a Tuesday, but only if I’ve seen relevant publications. If you don’t see an update on a Tuesday, assume it has been a quiet week for publications in health economics and genomics.

New publications in health economics and genomics 8th April 2025

Two publications over the past week:

  • The value of large-scale programmes in human genomics | link
  • The Cost Effectiveness of Genomic Medicine in Cancer Control: A Systematic Literature Review | link

I’m happy to share any other publications from this week that I’ve missed – just let me know. I publish these updates weekly, on a Tuesday, but only if I’ve seen relevant publications. If you don’t see an update on a Tuesday, assume it has been a quiet week for publications in health economics and genomics.

New publications in health economics and genomics 18th March 2025

One publication over the past week:

  • Beyond the Diagnosis: Valuing Genome-Wide Sequencing for Rare Disease Diagnosis Using Contingent Valuation | link

I’m happy to share any other publications from this week that I’ve missed – just let me know. I publish these updates weekly, on a Tuesday, but only if I’ve seen relevant publications. If you don’t see an update on a Tuesday, assume it has been a quiet week for publications in health economics and genomics.

New publications in health economics and genomics 11th March 2025

Two publications over the past week:

  • Cost-utility analysis of pharmacogenomics-guided tacrolimus treatment of Slovenian patients undergoing kidney transplantation in the U-PGx PREPARE study | link
  • Early Cost-Effectiveness Analysis of Using Whole Genome Sequencing for Patients with Castration-Resistant Prostate Cancer | link

I’m happy to share any other publications from this week that I’ve missed – just let me know. I publish these updates weekly, on a Tuesday, but only if I’ve seen relevant publications. If you don’t see an update on a Tuesday, assume it has been a quiet week for publications in health economics and genomics.

New publications in health economics and genomics 4th March 2025

One publication over the past week:

  • Clinical Effectiveness and Cost-Effectiveness of Multigene Panel Sequencing in Advanced Melanoma: A Population-Level Real-World Target Trial Emulation | link

I’m happy to share any other publications from this week that I’ve missed – just let me know. I publish these updates weekly, on a Tuesday, but only if I’ve seen relevant publications. If you don’t see an update on a Tuesday, assume it has been a quiet week for publications in health economics and genomics.

New publications in health economics and genomics 11th February 2025

One publication over the past week:

  • Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system 2014–2023 | link

I’m happy to share any other publications from this week that I’ve missed – just let me know. I publish these updates weekly, on a Tuesday, but only if I’ve seen relevant publications. If you don’t see an update on a Tuesday, assume it has been a quiet week for publications in health economics and genomics.

New publications in health economics and genomics 4th February 2025

Three publications over the past week:

  • Health Professionals’ Preferences for Next-Generation Sequencing in the Diagnosis of Suspected Genetic Disorders in the Paediatric Population | link
  • Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results | link
  • A Cost-Effective Two-Step Approach for Multi-Cancer Early Detection in High-Risk Populations | link

I’m happy to share any other publications from this week that I’ve missed – just let me know. I publish these updates weekly, on a Tuesday, but only if I’ve seen relevant publications. If you don’t see an update on a Tuesday, assume it has been a quiet week for publications in health economics and genomics.

New publications in health economics and genomics 21st January 2025

Two publications over the past week:

  • Approaches to Incorporation of Preferences into Health Economic Models of Genomic Medicine: A Critical Interpretive Synthesis and Conceptual Framework | link
  • Cost-effectiveness of targeted next-generation sequencing (tNGS) for detection of tuberculosis drug resistance in India, South Africa and Georgia: a modeling analysis | link

I’m happy to share any other publications from this week that I’ve missed – just let me know. I publish these updates weekly, on a Tuesday, but only if I’ve seen relevant publications. If you don’t see an update on a Tuesday, assume it has been a quiet week for publications in health economics and genomics.