March 9, 2014

Why so many huge sequencing projects?

In the United Kingdom, a project to sequence 100,000 whole genomes is under way. Saudi Arabia has started another 100,000 genome sequencing project. And a few days ago, bioentrepreneur Craig Venter announced a new company called Human Longevity, which is going to initially sequence 40,000 genomes, followed by hundreds of thousands later. Most likely, additional projects on a similar scale will be kicked off over the next months and years.

All this sequencing is not going to be cheap. For example, the British government has put aside £100 million (around $170 million) for its project. How can these costs be justified to taxpayers and investors?

One reason for government-funded projects like the one in Saudi Arabia and the UK is that they are going to directly benefit the sequenced patients. The other and probably more significant reason is that the resulting data will impact the development of new cures.

Genetic variants protecting against common diseases such as Alzheimer's and diabetes have already been discovered. Any drug that mimics the effect of those variants would be likely to also protect against the disease whilst at the same time being safe. The caveat is that rare protective variants can only be detected by studies involving tens or hundreds of thousands of people. Hence the need for sequencing-megaprojects.

Given the potential impact on drug discovery, it may seem puzzling that the initiative comes from governments and startups, rather than from established pharmaceutical companies, whose core competency is, after all, drug discovery.This is probably due to both the relatively conservative nature of most pharmaceutical companies, as well as the so far unproven nature of the approach.