Translating sequencing into clinical practice in Africa: a health economics perspective

A couple of weeks ago I presented at the 17th H3Africa Consortium Meeting on translating genome and exome sequencing into clinical practice in Africa.

I’ve now uploaded a video of my presentation, in case this is of interest to anybody.

The full abstract for this session was:

Research into genomics in Africa has progressed significantly over the past 10-15 years. In the coming years, attention will increasingly turn to the translation of genomic tests into routine clinical practice. This will naturally require a high quality Africa-specific scientific and clinical evidence base, considerable investment in infrastructure, and new and evolving partnerships between academia, government, health systems, industry, and patients and their families. A crucial component of the evidence base to support translation is data on the health economics of sequencing in an African context.

In this presentation I will provide a health economics perspective on the next steps in this translational journey. This perspective is informed by my experience undertaking health economics analyses as part of the Genomics England 100,000 Genomes Project, and collaborating on health economics studies in other countries translating genomics into clinical practice, including the USA, Canada, Australia and France.

I will describe the health economic evidence that is likely to be required in an African context to support the more widespread use of sequencing technologies, and I will summarise the challenges that may arise when generating this evidence (such as identifying clinically meaningful outcomes and working with big data). Importantly, I will also highlight the many opportunities for African health economists working in this field, who are well placed to address research questions that researchers in high-income countries are yet to tackle. These include investigations into the impact of genetic diversity on the costs and outcomes of sequencing, the cost-effectiveness of introducing different testing models in different settings, and the value of screening for variants that are rare in European populations but common in African populations. I will end by outlining potential next steps, including the need to embed collection of health economic data in new biobanks and large scale sequencing studies at an early stage.

New iHEA Special Interest Group on the Economics of Genomics and Precision Medicine (Econ-Omics)

I’m pleased to report that the International Health Economics Association (iHEA) have recently approved a new Special Interest Group (SIG) focusing on the Economics of Genomics and Precision Medicine (Econ-Omics). I am one of the three founders and lead conveners of this SIG, alongside Ilias Goranitis and Deirdre Weymann.

The aim of the Econ-Omics SIG is to bring together interested researchers around the world to build health economics capacity, advance methods, and facilitate communication and generation of the health economics evidence required to underpin the appropriate widespread use of genomic information in clinical practice. You can find more information about this SIG on our webpage, and you can stay up to date with our news and activities via our Twitter account here.

We have planned a number of exciting initiatives and activities and we’re looking forward to moving these forward over the coming months. These include:

  • An Econ-Omics blog and a quarterly newsletter
  • An annual symposium
  • Coordination of organised sessions at the iHEA Congress
  • A regular webinar series
  • Investigating opportunities for cross-country and cross-regional mentoring of ECRs
  • Sharing of teaching materials related to genomics and precision medicine

Membership is open to all iHEA members who are interested in the economics of genomics and precision medicine. You can join the SIG by logging into the iHEA website, selecting the “groups” section and clicking “request to join” the Economics of Genomics and Precision Medicine SIG (Econ-Omics). We particularly encourage expressions of interest to support the SIG in a convener role – please get in touch if this is of interest.

New Journal Special Issue Announced

The Journal of Community Genetics has just announced a new Special Issue titled “Resource Allocation in Genomic Medicine”. I will be guest editing this Special Issue with Dr Ilias Goranitis (University of Melbourne) and Ingrid Slade (University of Oxford; Head of Public Health, Wokingham Borough Council).

The Special Issue will focus on the issues surrounding resource allocation in genomic medicine from a variety of perspectives. Articles should aim to explore and describe best practice in resource allocation in this context and highlight key challenges, particularly those that are generalizable internationally.

Contributions are invited on, but not restricted to, the following themes:

  • Valuing genomic tests – challenges in the health technology assessment process;
  • Ethical, legal and social issues associated with resource allocation in genomic medicine;
  • The role of patients in resource allocation decision making in genomic medicine;
  • Commissioning genomic services within health systems;
  • Policy issues surrounding the translation of genomic medicine into clinical practice;
  • Resource allocation issues related to genomic testing in primary care and the wider community;
  • Resource allocation issues related to implementing genomic medicine in low- and middle-income countries;
  • Incorporating the wider economic impacts of genome sequencing in resource allocation decisions.

The deadline for submissions is 1st March 2021, and the Special Issue will be published in summer 2021.

Full details available here. Any questions, don’t hestiate to drop either me or Ilias an email.

New DPhil (PhD) opportunity in health economics and genomics

We have just advertised a new DPhil (PhD) position here at the Health Economics Research Centre in the area of health economics and genomics. The proposed start date is October 2021 and the full title is “Valuing the outcomes associated with genome sequencing in economic evaluations”. The student will be supervised by myself and Professor Sarah Wordsworth.

The primary aim of this project is to evaluate existing instruments used to generate quality of life weights for use in extra-welfarist economic evaluations, in terms of their capacity to capture all impacts of genome sequencing on patient wellbeing. Such instruments will include the EQ-5D-5L, the SF-36 and ICECAP capability measures. We expect the student will: 

  • Critically appraise the theoretical capacity of existing instruments to capture the impacts of genome sequencing;
  • Review the current use of these instruments in this context;
  • Generate new data on the use of these instruments in patients undergoing genome sequencing;
  • Identify instruments that effectively value the outcomes associated with genome sequencing;
  • Describe the characteristics of any new instruments that may be required.

The deadline for applications is 1200 noon UK time on Friday 8th January 2021.

If anybody has any questions about this project then please don’t hesitate to get in touch by email ( Please also share the details of this project with anybody who you think might be interested.

Full details of this project are available here.

Blog posts welcome!

When I started this blog in 2014 I wanted to provide a forum for the discussion of issues surrounding the health economic analysis of genomic technologies. I knew that I would start off by writing most of the blog posts, but my plan in the medium-term was to invite researchers from all backgrounds to contribute posts. However, this was not something I ever really got around to publicising. Consequently there has only been one guest post since this blog began.

I have less time to write for the blog now, so this seems like a good opportunity to put the call out for more guest posts. If you would like to contribute a post on any topic related to health economics and genomics, please get in touch. You can do this via the contact form, or via a DM on Twitter, or via my email address. There are no restrictions on the topic of posts: these could be paper reviews, comments on current issues in the field, editorial type posts, methods discussions or even debate-type posts. If you have something to say on health economics and genomics that requires more space than the 280 characters offered by Twitter, but isn’t quite right for a formal peer-reviewed paper, then this could be the format for you. I do not intend/want to edit any posts other than to do some light touch editing to fix typos etc.: there is no blog ‘voice’, and all opinions are welcome.

If you are interested in contributing, please get in touch!

HERC database of health economics and genomics studies launched today

An increasing number of qualitative and quantitative research papers in health economics and genomics have been published in recent years. To keep track of these publications, and to have a useful summary of available publications at hand, researchers at HERC have set up a database of health economics and genomics studies. I have helped to set up this database, as has Sarah Wordsworth, but a first-year PhD student, Patrick Fahr, has undertaken most of the hard work and should receive the lion’s share of the credit!

Database screenshot 09May18

Continue reading

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.

Continue reading

New PhD opportunity in health economics and genomics

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 ( Please also share the details of this project with anybody who you think might be interested.

Full details of this project are available here.


Health economic perspectives of genomics

Just a quick note to say that a book titled “Genomics and Society; Ethical, Legal-Cultural, and Socioeconomic Implications” was published today (available on Amazon here).


In this book you can find a chapter that I co-wrote with Dr Sarah Wordsworth from HERC and Professor Adrian Towse from the Office of Health Economics titled “Health economic perspectives of genomics”. You can read the chapter via Google Books here, and you may also be able to download a copy here, depending on your institutional access. I hope it is of interest.

Genomics at the 2015 iHEA meeting in Milan

Apologies for the recent lack of blog posts. It turns out it takes a lot of effort to get a PhD written up alongside other research commitments. Normal service will be resumed very soon. For now, a few quick notes on the International Health Economics Association meeting in Milan which has just concluded. Specifically, this is a quick review of the presentations that I attended which had a link (however tenuous!) to genomics. Continue reading