There are common differences, like the differences between blue eyes and brown eyes, or even between people likely to have Crohn’s disease and those who are unlikely to have it. Then there are differences that result simply from a “broken” gene, which is not a variant but simply a mistake. Most of these are harmless — the really harmful ones don’t survive long enough to show up anywhere.
The researchers’ task is to find meaning from all this data. We’re just at the beginning of this process, which will take many years. While some researchers are looking for statistical correlations, others are studying how the individual genes interact.
For all of them, access to genome sequences is important, but the genomes mean little without the corresponding medical records, just as the Russian novel — in any language — means little without a corresponding knowledge of Russian history.
Obtaining that history requires consent from the individuals whose genomes are sequenced. It also requires a lot of data processing to make the records usable. Much of the information is simply not recorded, and much is still on paper, or in scanned images, insurance company records and pharmacy transactions. There is a standard language for representing diseases, but in many cases the records containing this language might as well be hidden in mattresses.
The current movement in many developed countries toward electronic medical records will improve healthcare directly, but it will also lead to much improved information liquidity to help genetic and other medical research.
We now have the ability to sequence genomes at increasingly lower costs and we are slowly making the corresponding health information computer-readable. Companies such as Complete Genomics are developing software that can process the information.
There is, of course, still a huge amount of data to collect and process, and huge amounts of research and discovery to happen, but it is hard not to be optimistic about our increasing medical knowledge. The challenge five years from now will be to turn all that knowledge into practice through better preventive measures, better drugs and better care.
Esther Dyson is chairperson of EDventure Holdings and an active investor in a variety of start-ups around the world.
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