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Democratizing Genomics

The UK's massive push to incorporate genomic information across the National Health Service, through the 100,000 Genomes Project and the establishment of Genomics England, has sparked some worry from the medical community that its large-scale plans will lead to shoddy sequencing and analysis, PHG Foundation trustee Ron Zimmern says.

Scaling up and automating the process of interpreting genomes to the extent the NHS plans to do will require third parties generating data and using algorithms that will not lead to quality information that could be used in the clinic, these critics say.

But the UK is not planning on creating an army of expert analysts, but rather it aims to create a mass production capacity that will hew to a set of quality standards.

Zimmern poses an analogy that compares suit-makers. On one side you have your Savile Row tailors, highly trained master craftsmen who fashion bespoke garments for high-paying individual clients.

But that is not the kind of genome analysis the UK is planning, Zimmern says. The 100,000 Genomes and Genomics England initiatives are more likely envisioning their genomes as suits from Marks and Spencer, a dependable London department store offering far more reasonably priced but still reliable duds.

"The slightly reduced quality of the suit would be made up for by increasing hugely the numbers of those able to afford a suit," he writes.

And there are benefits that come with automation, such as consistency and quality control, and people would be able to afford new suits (have their genomes sequenced), who otherwise would not be able to afford them, Zimmern notes.

What Genomics England has proposed is no less than "a paradigm shift," he says.

"This approach will democratize genomics and make WGS available for all who need it; it will allow physicians across all specialties access to tools that will enable them to participate in the practice of genomic medicine."

You may not get all the benefits that come with Savile Row tailoring, but "a reasonable 'fit' would be guaranteed, as would be the quality of the product."