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.