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Genomic medicine: evolution or revolution?


After watching a recent NHS England board meeting – in which there was considerable excitement about the future role of genomics in the health service, it was actually an aside from Bruce Keogh that really got me thinking about the progress we have already made in genomic medicine in the UK. It was his view that, despite “several false dawns of genomics”, we were now at an “historic moment” of change. 

It is true that the meeting appreciated the enormous advances we have made in the field of genomics, but it seemed to me that by dismissing past efforts, a little of the importance and history of genomic medicine in the UK had been lost along the way. What really worried me about this interpretation was that it presented a picture of genomics being a new concept – something untested, or that been tried and failed. It also portrayed the 100,000 Genomes Project as the very first stage in a journey towards the ‘future’ of genomics in medicine. 

In reality, this version could not be further from the truth. It is a fact that genomics is constantly evolving, but it has not simply emerged overnight. It is also unfair to label previous initiatives to embed genomics into the NHS as a failure, and by categorising them a ‘false dawn’, Bruce Keogh has (however inadvertently) done just that. 

It is interesting that this rhetoric actually contradicts the 2012 Human Genomics Strategy Group position, which provided a good snapshot of how far we have already come. The report demonstrated that the foundations are not only in place, but that they are delivering real results. I find it fair to say that in 2014, we are not starting from a blank page, but are thus building on those solid foundations. The 100,000 Genomes Project is, of course, part of that journey, but I would argue that it is only possible because of the context of those previous successes, rather than being the trigger for a completely new way of delivering healthcare. 

This distinction is more important than it might first appear – it is not just a question of semantics. For in order to adequately plan for a future in which genomics could be truly embedded in our healthcare system, it is crucial to understand successes and obstacles we have faced in the past. There is a danger, for example, when designing the new 100,000 genomes database, of overlooking the value of existing databases (such as DECIPHER). The focus should instead be on how we streamline and share all the disparate sources of information so that we can learn and progress at a much faster rate. 

We must never, therefore, underplay the importance of genomics in being part of a more personalised approach to healthcare. We are at a pivotal point in history and on the cusp of real change, but rather than us approaching this from a standing start, I see the 100,000 Genomes Project as a springboard to realise the change we have always wanted – only much more quickly. I hope that NHS England, with its responsibility for provision of all genomic services, is able to see this too.


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