Money matters: shaping the use of genomics in the NHS

Gurdeep Sagoo

17 September 2015

The 100,000 Genomes Project (100KGP) is an immense – and ground-breaking – project, which over the next 18 months plans to sequence 100,000 genomes from around 70,000 NHS patients with cancer or rare diseases and their families. The aim of this initiative is to create a new genomic medicine service for the NHS so that when the project ends, the NHS is ready to use genomics as part of routine care by offering patients a new diagnostic service at a level not currently available, and also creating the potential for new and more effective treatments by enabling medical research within a ‘UK genomics industry’.

A focus on finance

At the PHG Foundation we are interested in making science work for health, and I am responsible for delivering the health economic evaluation of genomic diagnostic technologies. Whilst there is great excitement about the potential for genomics to improve healthcare, prior to implementation it is clearly essential to understand the various costs and savings they may offer – whatever the health system in which they are to operate. I am therefore delighted to be working in collaboration with fellow health economists at the University of Manchester and the University of Oxford, in undertaking various health economic analyses of the 100KGP, as part of the ‘cross-cutting’ Health Economics Genomics England Clinical Interpretation Partnership (GeCIP) domain.

Health economics in the 100,000 Genomes Project

The broad aim of the Health Economics GeCIP domain (led by Dr Sarah Wordsworth at the University of Oxford) is to apply, and further develop, health economic methods in order to better understand the economic impact of whole genome sequencing (WGS) in clinical practice, and the economic incentives for evidence generation. The relative dearth of robust economic evidence for clinical genomic applications is due to numerous challenges in economic evaluation methodology and data availability (see Next Steps in the Sequence report for greater discussion). This is an urgent issue for health economists to tackle, and nowhere more so than in the 100,000 Genomes Project; given that the project’s aim is to create a new genomic medicine service for the NHS, the importance of health economics simply cannot be overstated. 

The 100KGP offers health economists interested in genomics and genomic technologies an unprecedented opportunity to systematically collect high-quality cost and health outcome data with the largest genome database linked to NHS patient data. By undertaking economic evaluation, we hope to provide information on where the use of WGS is most likely to best represent value for money within the NHS, and therefore help to shape the proposed new NHS genomic medicine service. 

The complexity challenge

My colleagues have commented extensively on the difficulties of analysing and interpreting highly complex genomic data. Health economics also faces a challenge in dealing with genomic testing and diagnosis, needing to take into account a whole host of factors including not only the costs of tests and interventions, but also where these costs (and potential savings) occur, what their impact is on the clinical management of patients, what the resulting health outcomes are for these patients and whether these outcomes provide value for money. There is also an increasing focus on understanding patient-centred outcomes – the value of a diagnosis not only to clinical teams and health systems, but to the individual patient and whether these should incorporated more appropriately into economic evaluation.

This is an exciting but also very busy period for those involved with the Health Economics GeCIP domain. There is much work planned, ironically linked to whether we can secure funding, but outputs will help improve the quality, consistency, and usability of future economic evaluations produced in this area. By improving both the amount of evidence and also its quality, we hope that the legacy of the Health Economics GeCIP domain will be the foundation of a robust evidence base on which policy makers can base future implementation decisions within the new NHS genomic medicine service. Of course, both the knowledge and resources arising from this work is likely to inform the development of personalised and genomic medicine in other health systems, too.

For further details about this work, contact Dr Gurdeep Sagoo