27 April 2016
Every living thing on earth has a genome. We are united by the common chemical basis of our lives, our DNA. Every day, scientists are discovering more about these genomes, how they work, why they fail, what the significance of their enormous diversity really is.
With every new discovery they make, about genomes from organisms great and small, the case for making genome sequencing and analysis available to all those with an interest in promoting the health and wellbeing of our population grows ever stronger.
The good news is this really should not be such a difficult task to achieve. The same equipment can sequence a human genome, a viral genome, or indeed the genome of a plant (if you really want to). To anyone operating a genome sequencing facility this is of course a statement of the blindingly obvious. So why is it proving so difficult for those in charge of delivering our healthcare and protecting our health to see this is the case?
Time and time again, as I work across the health services, I find laboratories establishing their own genome sequencing and analysis infrastructure despite the existence of existing facilities available to provide these services within their own local or national organisations. It is a ridiculous waste of resources for a microbiology laboratory (to take just one example) to invest in its own genome sequencing equipment, when there is an underutilized sequencer in the same building in (say) a molecular genetics or molecular pathology laboratory. There can be no excuse for a hospital or other healthcare organisation thinking about investing in genomic sequencing technology not to consider all of the areas of pathology in which it can be used, with a view to making a business case based on a single integrated service. Yet we see this happening all too frequently, and the adverse consequences for quality of care are significant. Wasting both time and money in this way slows down access by patients and their clinicians to the innovative services that should be helping them to improve their health.
It is immensely frustrating. The finances of our health service are not exactly in great shape, and yet we continue to see money wasted through failure to grasp the great advantage of genomics - its universality. Although our health service is theoretically a universal system, so often the fragmented reality created by its continual reorganisation means that the full benefits of its supposed unity of purpose are all too rarely realised.
My frustration is about more than just developing efficient provision of genomic sequencing services. It is also about the wasteful duplication of effort in establishing and developing the associated analytical expertise and infrastructure required to analyse the sequence data produced. It is about failure to work collaboratively across the health system to evaluate sequencing and analysis methods and agree best practice, or to learn from the examples of the pioneers rather than being doomed to repeat the mistakes they made along their journey to success.
Whilst there are reasons why this occurs, there is simply no justification for having multiple laboratories, working within a single health system, invest time and precious human resources in the parallel development of the same analysis pipelines, the same data management systems, the same sequencing protocols. It makes no sense and it cannot be afforded. To be fair, the ‘not invented here’ problem plagues the whole of the health system, not just implementation of genomics, but the advent of genomic medicine is surely an unparalleled opportunity to rise above this crippling limitation.
This is a problem essentially rooted in a lack of effective communication. For myriad reasons, the lack of communication, collaboration and transparency across our health system has enabled this inefficient and ineffective approach to continue for too long. From Whitehall to the corridors of your local hospital, too often there is a lack of structures and incentives to enable the essential, but much undervalued, activities of knowledge and information exchange from occurring.
What can be done? There are some positive examples of clinicians and scientists forming their own professional networks, such as the excellent Association of Clinical Genetic Science (part of the British Society for Genetic Medicine), through which to share expertise and develop guidelines and standards. Such organisations, while often undervalued, are vital to ensure the most safe and effective services are available to patients everywhere.
There are also some great examples within individual healthcare organisations, including those on our doorstep here in Cambridge, of how empowering experts in genomic analysis to work across multiple pathology disciplines can lead to a more coordinated and effective use of resources and accelerate implementation of new services.
However, these positive examples remain exceptions rather than the rule. Optimistically, we can hope that the continuing consolidation of pathology services into single multi-specialty providers will at least break down some of the traditional disciplinary and budgetary barriers to integrated genomic service provision within local health economies. At a national level, the current NHS England Genomics Laboratory Service redesign should also provide opportunities to look for more efficient ways of delivering core genomic services. We shall see.
While collaboration and knowledge sharing amongst professionals is obviously essential to accelerating the implementation of genomics across our health system, it is not enough. For now at least, genomic analysis does not come cheap. Making the business case for its use across the wide range of healthcare sectors in which it may ultimately have utility requires the realization of economies of scale that can only be achieved if those disparate disciplines, and the organisations that oversee them, can agree to share scarce and jealously guarded resources, co-develop implementation strategy and collaborate effectively on delivery.
Is there a politician or policy maker out there who sees this bigger picture? Someone who has the power and the will to make this happen? We can only hope so.