Intended for healthcare professionals


Genomics—an aid to diagnosis not a replacement

BMJ 2018; 360 doi: (Published 23 March 2018) Cite this as: BMJ 2018;360:k1267
  1. Ingrid Torjesen, freelance journalist
  1. London, UK
  1. ingrid_torjesen{at}

Doctors will need to develop their skills to make the most of genetic information for diagnosis and treatment—and sooner than we might think, finds Ingrid Torjesen

General practitioners’ diagnostic skills are going to be needed for less than 18 years, if you believe Jeremy Hunt. He suggested to a fringe meeting at the Conservative party conference in 20151 that the ability to look at genes to diagnose disease and then to select the best possible treatment would render conventional skills obsolete within 20 years.

“What’s happened in medicine for the last two millennia is that you wait until you have a symptom and then a doctor tries to interpret the symptom,” he said. “What this will mean is we can identify problems before they’re symptomatic and therefore have a much better chance of tackling them.”

It’s a nice idea, but sadly genomics is not quite that straightforward. Genomics will become a useful tool for clinicians to speed up diagnosis and guide treatment, but doctors are likely to require new skills to make the most of the information—and soon.

From October a large number of genetic tests in the NHS will move to whole genome sequencing, says Mark Caulfield, chief scientist at Genomics England, the not-for-profit company established to deliver the 100 000 Genomes Project. The shift will capitalise on the success of the project and the framework put in place to run it, he told a meeting at the Royal Society of Medicine in London on 2 February.

Non-coding DNA

The 100 000 Genomes Project was set up in 2012 to sequence 100 000 whole genomes from NHS patients with rare diseases and cancer to identity genes implicated in their conditions. Initially patients were drawn only from England, but the project is now UK-wide.

Every cancer patient recruited contributes two genomes …

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