The UK has a huge opportunity to lead the world in disease discovery, treatments and cures. But support from the NHS and better data collection is needed if Britain is not to lose out in the coming genomics revolution. Leading scientists include Professor Peter Donnelly from the WTCHG.
The cost of whole genome sequencing – mapping the DNA code of any human being – is dropping through the floor, from £750m for the first-ever sequence to probably as little as £1,000 soon. Experts say it will soon be as cost‑effective to carry out a whole genome sequence on a patient as to do one or two genetic tests. They see a time in the not too distant future when it could be normal to sequence the genome of every newborn baby.
But, says Sir John Bell, regius professor of medicine at Oxford University and chair of the advisory Human Genomics Strategy Group, data about a patient's DNA tells you little without standardised information on their disease. At the moment, the NHS does not hold that in a way that allows comparisons. Even the definition of a recurrence of a cancer – the point at which it is considered to have come back – varies from one hospital and specialist to another.
"I keep saying to people – don't think about today, think about tomorrow. There's no question it's going to be really, really, really cheap. The real question is what are you going to need from the back office?" Bell said.
"Even if we got started flat-out today we'd still be behind the curve because there's a lot of stuff that's going to need to be done. People have to concentrate on the problem. People have been saying well, we can buy a machine – it'll all be fine. Well, it won't all be fine. There's no informatics, there's no capabilities of proper data analysis of whole genomes, insufficient clinical informatics to make this all work and all that's got to get fixed." But, he added, Britain has "a huge opportunity. The truth is we could lead the way in this space."
In an attempt to get an idea of how useful whole genome sequencing could be in finding the causes of disease, Prof Peter Donnelly, director of the Wellcome Trust Centre for Human Genetics, and colleagues at Oxford University set up an experiment with Illumina, one of three leading firms offering genome sequencing, all of which have technology that was at least in part invented in the UK.
They asked clinicians in Oxford to send samples from patients they thought might have disease caused by genetic mutations. They were interested in three groups – rare onset diseases such as that which afflicted David Cameron's son Ivan, Ohtahara syndromewhich afflicted David Cameron's son Ivan and, where one could be fairly sure genetics were playing a major part; severe early-onset conditions involving the immune system; and cancers. They refined the list to 500 genetic puzzles, and did whole genome sequencing for each one.
It was in the first group, rare diseases, that they were, said Donnelly, pleasantly surprised. "In a very high proportion – a third to a half – we found something that we're pretty sure is the cause," he said. "We saw mutations in a gene that could be connected to the condition, though we can't be absolutely sure."
But the information, he said, was helpful to the clinician dealing with the patient and family. In one case, the analysis led to different treatment. In other cases, parents could be told whether the condition was inherited from them and likely to be passed on.