Genomics—an aid to diagnosis not a replacement

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.