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 is simply no name. This year, his doctors will begin to send Noah’s genetic information to various medical facilities around the world, hoping to identify the disease by finding someone who suffers 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 you cannot find a similar case, then there is no hope for success.

This case is one of many where the interaction of doctors in the question of searching and comparing genotypes of different people is required. To work you need a reliable system that allows you to quickly search and compare genotypes. And such a system may soon appear: in January, programmers from Toronto began testing a system for the exchange of 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 doctors from different countries who deal with the problem of rare genetic mutations in a single gene.

Not only programmers are involved in the implementation of the MatchMaker Exchange project - the team includes genetic scientists, medical practitioners, the administration of some medical institutions and, of course, employees of the IT sector. One of the authors of the project is David Haussler, an expert on bioinformatics from the University of California. According to David, now scientists have deciphered the genome of about 200 thousand people, and the number of "transcripts" is growing. There are already projects to create a centralized storage base for decoded DNA sequences, but there is no reliable information exchange system of this kind yet.
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And the future of medicine lies in the possibility, if not instantaneous, then very rapid exchange of genetic information, with comparison of individual DNA segments of different people.

Haussler 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 to create 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 - the human genotype is considered to be private information, and posting such data on the Web is far from being welcomed by all legislators in different countries.

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

And the advantages of creating such a system largely offset possible risks. Now, any person with a cancer or other complex disease will receive DNA decryption, comparing its DNA with information from other people, which will determine the best method of treatment, and the treatment, in turn, will become individual.

It should be noted that projects of smaller scale have already been implemented earlier. Thus, 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 cure difficult to identify diseases will no longer be rare.