There was no shortage of excitement (some might call it hype) about genomics and personalised healthcare in 2016, but for the vast majority of patients, the benefits of genomics remained tantalizingly out of reach. I have been wondering whether there are reasons to be more optimistic for 2017? Could this be the year that ‘patient benefits from genomic medicine’ is no longer newsworthy, and becomes just ‘business as normal’?
UK health system forges ahead with routine WGS
Two important ‘transformational’ genomics projects in the UK are entering new phases this year: The 100,000 Genomes Project is now in its final year (at least of its initial phase), and the ‘handover’ of the tests it is developing into mainstream NHS genomic medicine services will begin, as the tender for NHS genomic central laboratory hubs goes out and the procurement of whole genome sequencing services gets underway in earnest. Meanwhile, a meeting in Oxford in March heralds the launch by Public Health England of the first ‘diagnostic’ whole genomic sequencing service for infectious diseases, aimed at providing rapid diagnosis and drug resistance detection for Tuberculosis.
Will WGS thrive in the wild?
This will be the year when these well funded, carefully incubated translational research endeavours will be releas ed from captivity into the wilds of a health service that is currently struggling, in some cases, to meet even existing standards of care. How will such innovative (and costly) projects fare when introduced into a potentially hostile environment, where commissioners are desperately seeking efficiencies and where the frontline professionals who must deliver new tests and services are already under enormous pressure? Will they survive? Will they thrive?
My inner optimist says that these projects both represent sufficiently major steps towards addressing significant unmet needs for patients that the health services will embrace them and support their gradual integration into the ‘mainstream’. At the same time, my inner pragmatist says that while these are important initiatives, both are also still very much works in progress whose impact on patient health when used in clinical practice (rather than in research) remains uncertain.
These projects will have to compete for scarce financial resources, and the even more precious commodity of mainstream clinical engagement. There is a risk that the lack of ‘hard’ quantitative evidence of patient benefit (patient case studies and small-scale pilots not withstanding) will be used as a stick to ward off attempts to integrate these important innovations. This would be entirely understandable, but an enormous waste. The immense political pressures associated with delivering these projects successfully could provide some extra ‘top down’ impetus for this integration, but it must be matched by practical support for the frontline health professionals expected to deliver their much heralded transformational effects.
Better testing: necessary but not sufficient for better care
Enormous effort has been expended in developing and refining pathways for testing patients (and their infections) using whole genome sequencing, analysing their complex genomic data and reporting the results. However, it is the way in which these testing pathways are going to be woven into the fabric of the health system and of our society that will ultimately determine whether or not we see the benefits they have promised.
Thrilling as it is to imagine that the NHS will soon be delivering whole genome sequencing routinely to patients with genetic and infectious diseases, for many their experience prior to being referred for their test, coupled with the ways in which healthcare and non-healthcare professionals respond to the results of the test, will have just as large an impact on their health as the result of the test itself. For example, can we truly say the health system has been ‘transformed’ if rare disease patients still have to wait years to receive their (albeit now more accurate) genomic diagnosis because their condition is not recognised as potentially genetic in origin, or because their service doesn’t have the funds to pay for the clinical care indicated by such a diagnosis? The continued absence of a formal implementation plan for the UK rare disease strategy in England suggests the services patients need before and after they receive their diagnosis are not being afforded the same priority as the testing process itself. This will limit significantly the individual and population health impact of any improvement in genomic test performance, as well as frustrating many patients and health professionals.
Business as usual
I am hopeful that this year, as these two important projects emerge from the tunnel of delivery that has necessarily constrained their vision, they will embrace the challenge of turning themselves from ‘world leading’ PR and politician-friendly initiatives into unexciting, but effective, day to day clinical services. Because success for genomic medicine should not be measured by the volume of publicity, by of the numbers of genomes sequenced or news stories about individual lives transformed by a genomic diagnosis, compelling as they may be. It should, rather, be defined by genomics becoming just another standard test, one that clinicians across the health service can use effectively and that patients are offered, when they need it, as a first rather than a last resort.
So here is to a quiet year in genomics, a year defined by the many unsung patients and professionals working hard in the health system and beyond to turn the ‘revolutionary’ genomics of 2016 into the business as usual genomics of 2017.