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.
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:
- Paper 1 (2013): “Issues surrounding the health economic evaluation of genomic technologies”
- Paper 2 (2015): “Welfarism versus extra-welfarism: can the choice of economic evaluation approach impact on the adoption decisions recommended by economic evaluation studies?”
- Paper 3 (2016): “Patients’ Preferences for Genomic Diagnostic Testing in Chronic Lymphocytic Leukaemia: A Discrete Choice Experiment”
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“.
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.
In July 2016, the Office for Health Economics and the European Personalised Medicine Association published a white paper titled: “The Value of Knowing and Knowing the Value: Improving the Health Technology Assessment of Complementary Diagnostics”. This publication did not receive a great deal of attention at the time, but it raises some interesting points related to genomic testing that are worthy of consideration by a wider audience. In particular, it highlights several things that we currently do reasonably well in health economics and genomics, as well as some areas in which we need to improve evidence generation, suggesting a future research agenda in this field.
I’m pleased to announce that we are offering a DPhil (PhD) position here at the Health Economics Research Centre in the area of health economics and genomics. The proposed start date is October 2017 and the full title is “Linking genomic and clinical data in health economic evaluations: identifying challenges and exploring potential solutions“.
The aim of this DPhil project is to comprehensively investigate the challenges and opportunities in this area using data from the 100,000 Genomes Project, with an emphasis on rare diseases.
The deadline for applications is 1200 noon UK time on Friday 6th January 2017.
If anybody has any questions about this project then please don’t hesitate to get in touch by email (firstname.lastname@example.org). Please also share the details of this project with anybody who you think might be interested.
Full details of this project are available here.
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.
I recently completed my PhD work which considered the issues surrounding the economic analysis of genomic diagnostic technologies in the UK NHS, and I hope to publish as much of this work as possible over the next year or so. The first paper reporting the results of this work was published in 2013 in Pharmacogenomics (“Issues surrounding the health economic evaluation of genomic technologies”) and the second paper was published in PharmacoEconomics in 2015 (“Welfarism versus extra-welfarism: can the choice of economic evaluation approach impact on the adoption decisions recommended by economic evaluation studies?”). I’m please to say that the third paper arising from this work was published last week in The Patient (“Patients’ Preferences for Genomic Diagnostic Testing in Chronic Lymphocytic Leukaemia: A Discrete Choice Experiment”). Continue reading