DNA in the cloud: a giant base of human genomes - the future of medicine

Noah is a 6-year-old boy who suffers from a disease for which there simply is no name. This year, his doctors will start sending Noah's genetic information to various medical facilities around the world, hoping to identify the disease by finding someone who is suffering from the same disease. At the same time, Noah is getting worse, so you need to act quickly to find at least something that can help in identifying the disease and its possible treatment . If a similar case cannot be found, then there is no hope of success.

This case is one of many where the interaction of doctors in the search for and comparison of the genotypes of various people is required. To work, you need a reliable system that allows you to quickly search and compare genotypes. And such a system may appear soon: in January, Toronto programmers began testing a system for exchanging genetic information between hospitals and other medical organizations. The system has already received the name MatchMaker Exchange , and so far its main goal is to establish interaction between physicians from different countries who deal with the problem of rare genetic mutations in a single gene.

Not only programmers participate in the implementation of the MatchMaker Exchange project - the team includes genetic scientists, practicing doctors, the administration of some medical institutions, and, of course, IT sector employees. One of the authors of the project is David Hausler, a bioinformatics expert at the University of California. According to David, already now scientists have deciphered the genome of about 200 thousand people, and the number of "decryptions" is growing. There are already projects to create a centralized storage base for decrypted DNA sequences, but there is no reliable information exchange system of this kind yet.

And the future of medicine lies in the possibility of, if not instant, then very quick exchange of genetic information, with a comparison of individual DNA sections of different people.

Hausler is the founder and one of the technical leaders of the Global Alliance for Genomics and Health, formed in 2013. The creators of this organization compare it with the W3C, whose representatives are working to ensure that "the Internet works correctly." As for the Global Alliance for Genomics, the technical specialists of this organization are working on creating new standards and protocols for the exchange of genetic information, and APIs are also being developed for various systems. True, the main problems are not technical, but rather social in nature - a person’s genotype is considered private information, and the publication of such data on the Web is not welcomed by all lawmakers from different countries.

The developers believe that the best solution is to create a peer-to-peer computer network in which the data will be decentralized. Each organization with access to such a network will have different data archives for which different access levels will be set. So it will be possible to solve the problem of storing private information.

And the advantages of creating such a system largely offset the possible risks. Now, any person with a cancerous tumor or other complex disease will receive a DNA transcript, a comparison of his DNA with the information of other people, which will determine the best treatment method, and the treatment, in turn, will be individual.

It is worth noting that smaller projects have already been implemented earlier. So, a group of Canadian geneticists from 2011 to 2013 using the method of genetic analysis was able to identify 55 diseases that Canadian doctors could not recognize. At the beginning of the global system, the percentage of successful cases will increase many times, and cases of curing diseases that are difficult to identify will no longer be rare.