New publications in health economics and genomics 12th August 2025

Five publications since the last update:

  • A Value Framework for Evaluating Population Genomic Programs: A Mixed Methods Approach | link
  • Microcosting Study of Genomic Profiling for Precision Cancer Medicine Application from the National Infrastructure for Precision Diagnostics in Norway | link
  • A scoping review of the cost-effectiveness of precision treatment in chronic lymphocytic leukemia | link
  • Exploring patient and professional perspectives on implementing pharmacogenomic testing in the UK primary care setting and estimating the cost-effectiveness: a mixed-methods study protocol | link
  • Cost-Effectiveness Analysis of Comprehensive Genomic Profiling in Patients with Advanced Non-Small-Cell Lung Cancer Using Real-World Data | 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 9th July 2025

Two publications over the past week:

  • Transforming NICU care: rapid WES and transcriptomics-validation, social impact, and cost analysis | link
  • Are we properly evaluating genetic and genomic testing? A systematic review of health technology assessment reports | 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 24th June 2025

Three publications over the past 3 weeks:

  • Preferences for multi-cancer tests (MCTs) in primary care: discrete choice experiments of general practitioners and the general public in England | link
  • Costs and cost-effectiveness of returning secondary findings from genomic sequencing based on the return of additional findings in the 100,000 Genomes Project | link
  • Weighing the evidence on costs and benefits of polygenic risk-based approaches in clinical practice: A systematic review of economic evaluations | 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 3rd June 2025

One publication over the past week:

  • Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia | 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 20th May 2025

One publication over the past week:

  • Impact of comprehensive genomic profiling and molecular tumour board on costs and access to tailored therapies: real-world observational study | 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 14th May 2025

Two publications over the past week:

  • Real-Time Genomic Surveillance for Enhanced Healthcare Outbreak Detection and Control: Clinical and Economic Impact | link
  • Distributional cost-effectiveness analysis in genomic medicine: Considerations for addressing health equity | 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.

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.