19 July 2017
Earlier this month, the Chief Medical Officer for England, Prof Dame Sally Davies, launched her 2016 annual report, Generation Genome.
As previous blogs have set out (and further blogs will examine – it is a long report), the document examines many aspects of genomics and the potential to deliver medical benefits in different areas. These include the government’s flagship 100,000 Genomes Project led by Genomics England, and plans to not only complete this undertaking (the original plan was to sequence 100,000 genomes by 2017, but at the time of writing something under 32,000 have been completed) but further, to build on it and introduce a modern genomic medicine service into the NHS, accessible from mainstream clinical practice. Recommendations to achieve this goal include the creation of a National Genomics Board; reorganisation of genomics laboratories to create a cost-effective system based on the high-throughput sequencing centre established by Genomics England and company Illumina as a ‘hub’ with regional and local ‘nodes’ – centres for interpretation and clinical interface.
An editorial in medical journal The Lancet considers the CMO’s recommendations, conceding the benefits of whole genome sequencing for areas such as oncology, but questioning the case for wider clinical implementation, saying: ‘perhaps the NHS is not the right place to mainstream genomic medicine, especially given that so much of what constitutes day-to-day primary care in the NHS is unlikely to benefit from detailed genomic knowledge’.
The author has a point here – a whole genome sequence has little utility to the average overburdened GP, struggling to get through a hectic caseload of patients, and so evidence that such information typically provides no clinical benefit in this context is not surprising. Nor is the conclusion that ‘as the NHS increasingly struggles to deliver basic services, now may not be the time for the NHS to lead this change’ wholly unreasonable. However, it ignores certain important issues.
It is true that we are in the earliest days of genomic medicine, and the full benefits of affordable whole genome sequencing and analysis lie a long way in the future. Care must indeed be taken to ensure that hard-pressed clinicians are not over-burdened by the demands of ordering or interpreting genomic tests – the PHG Foundation spends a lot of time working with expert stakeholders to help address barriers to the clinical adoption of new technologies to benefit patients such as these. Nevertheless, the full benefits cannot and will not be realised unless we make the step from isolated research project to clinical service, ensuring that genomic and clinical data are used and analysed in a learning health system to drive further understanding and utility.
It is true that now is not a good time to be using resources, when national finances are strained and health system demands high – there is a strong argument to be made for more funding for the NHS. However, we are not likely to see a situation where the money for this sort of enterprise is easily spared any time soon – and a delay in implementation means a delay in patient benefit, not to mention loss of our current position as a global leader in genomic medicine. Moreover, genomics is not the sole answer to our medical future; it is a trailblazer insofar as it combines highly complex data with clinical information and requires interrogation by expert algorithms, but we can expect many more sources of biological and other forms of data to join the mix, thanks to scientific developments such as sensors, imaging, biomarker analysis and so many more.
Genomics can offer benefit here and now. The author makes the mistake of equating ‘mainstreaming’ of genomics with delivery in primary care. Whilst this may eventually be just as important, there is a massive unmet need in almost every area of clinical medicine where testing has a role to play in diagnosis and prevention. Investing in the development of these specialties to deliver genomic medicine would have an immediate pay-back. Shouldn’t the patients of cardiologists, gastroenterologists, nephrologists, ophthalmologists and many more besides have access to genomic testing where it has proven utility?
For primary care (as indeed in all areas of medicine outside clinical genetics) it would be foolish indeed to present a GP with a whole genome sequence and expect them to make sense of it, or to return a set of variants of uncertain clinical utility and leave them to make decisions on that basis. However a significant minority of a GP’s patients will have a rare disease or cancer, for starters, and awareness of this possibility and pathways for referral to specialists may continue to be the most important issues in primary care for some time to come, though simple point of care genomic-based tests (for sensitivity to medication, or the diagnosis of infectious microorganisms) may change that somewhat.
Yes, in some respects introducing a system for whole genome sequencing and analysis is arguably an expensive sledgehammer with which to crack a nut of limited size. However, there are good reasons for establishing an infrastructure that can cope with the undoubted increase in demand in coming years and lay the foundations for a massive research resource at the same time. The expense, while significant, is by no means enough to solve all the current health service problems if redeployed, and meanwhile the government hopes it will provide clear economic as well as health benefits for the nation. It isn’t an either/or situation. Genomics is not the answer to everything. But it genuinely can be an answer to some things.