The Great Whole Genome Race


This year the race to build the critical mass of data needed to revolutionise healthcare will begin, and the UK will be the first to cross the finish line, says Sir John Chisholm

Countries across the world are preparing to join the Great Whole Genome Race.

Ever since the sequencing of the first whole human genome in 2000 we’ve known that the human genetic code (contained in 3.3 billion base pairs) has, within its colossal complexity, the answer to nearly all medical diseases.

The sequencing of the first human genome cost the best part of a billion pounds but the prize of unlocking those secrets has since driven numerous research teams in chemistry, biology and electronics to work towards reducing this. Costs have come down spectacularly - even faster than Moore’s Law. But it is still true that the application of big data analytics to large scale genomic data linked to phenotypic (i.e. clinical) data has been deterred by the still significant cost of whole genome sequencing. As a result, even nearly a decade and a half after the first human genome was sequenced, the total number sequenced in the whole world to date has been just a few tens of thousands.

Vast opportunities

Given the phenomenal complexity that billions of years of evolution have buried in the genome we need much larger datasets to give big data analytics the chance to start unpicking the insights which lie within. At some point the innovative and entrepreneurial drive of the new sequencing companies, coupled with the increasing digitisation of health records, will lead to vast opportunities, allowing the world wide analytics community to unearth hidden secrets.

I predict that time is 2014. The UK is the first country to announce a national initiative at the whole genome level in the form of the 100k Genome Project. The project will sequence the personal DNA of up to 100,000 patients over the next five years.  Several other initiatives are already gathering pace in the US and more recently, numerous other countries, including Saudi Arabia, announced their intention to launch similar national programmes.

So now the race is on. The  benefits to human health (better and earlier diagnoses as well as personalised care) are so enormous that everyone will want to be in the game. Even so, the insights we can unlock are so numerous, there’s enough potential reward for  all players.

But when it comes to building the critical mass of data needed to tackle some of our most serious healthcare challenges, there will be one winner, and that will be Britain.

This article has originally apreared in  14 Predictions for 2014 by NESTA.