A grand bargain?

Yesterday the UK government announced a £100M initiative to bring whole-genome sequencing into the National Health Service. Initial efforts will be focused on a research programme to sequence the genomes of 100,000 patients in two disease areas: cancer and rare diseases, and on the sequencing of a subset of participants in the UK Biobank. This initiative will also put in place a new bioinformatics framework to facilitate the linking of genomic and clinical data. All these are stepping stones towards sequencing the genomes of every NHS patient and storing that data in a national database (see The Observer).

It would seem that the UK public are being offered a grand bargain by the government: give us your DNA and we will revolutionise medicine. However, it is not clear that we need all this data (the UK Biobank already has 500,000 participants); it is not clear that genomics is going to revolutionise medicine (see previous post: The myth of the genomic revolution), it is not clear that the government can deliver the massive IT infrastructure which would be required to make this work (the current government last year scrapped a national IT system for the NHS as unworkable – see The Guardian). Finally, public acceptance of this radical plan seems doubtful (see public comments on The Observer report for a taste of the response we might expect from many people).

So why is this all happening? Why at a time of healthcare cuts, is £100M being taken out of the NHS budget for an initiative whose necessity, utility, technical feasibility and public acceptability are at best doubtful? My own view is that many leading proponents of the promised genomic revolution have grown impatient with the slow rate of clinical adoption and they are now trying to bring genomics into the NHS by the backdoor by collapsing the traditional distinction between research and clinical practice. Only when the entire population has become genomic research subjects, it is implied, will we have sufficient data to reveal the latent utility of clinical sequencing (and once we have that genomic data as research data then we may as well use it in clinical decision-making). This is a solution which raises as many questions as it might hope to answer, pushing the question of clinical utility downstream whilst bringing to the fore equally intractable issues of public trust in the management of data privacy and the handling of unexpected findings of unknown clinical significance.

There is much more to be said on this topic but for now, I will simply point you in the direction of a fairly trenchant op-ed from two prominent US geneticists on the subject of the utility of whole genome sequencing: The value of your genome.

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