25 February 2015

DNA in the "cloud"

Giant database of human genomes – the future of medicine

marks (Geektimes) based on MIT Technology Review: Internet of DNANoah is a 6–year-old boy who suffers from a disease for which there is simply no name.

This year, his doctors will begin sending Noah's genetic information to various medical institutions 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 it is not possible to find a similar case, then there is no hope of success.

This case is one of many where the interaction of doctors in the search and comparison of 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 be coming soon: 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 been called MatchMaker Exchange, and so far its main goal is to establish interaction between doctors from different countries who are dealing 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, employees of the IT sector. One of the authors of the project is David Haussler, a bioinformatics expert from the University of California. According to David, scientists have already deciphered the genome of about 200 thousand people, and the number of "deciphers" 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.

And the future of medicine lies in the possibility, if not instantaneous, then very fast exchange of genetic information, with the comparison of individual DNA sections 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 on the creation of new standards and protocols for the exchange of genetic information, and APIs for various systems are also being developed. However, the main problems are not technical, but rather social in nature – the human genotype is considered private information, and the posting of such data on the Network is not welcomed by all legislators of various 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 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 decoding, a comparison of his DNA with the information of other people, which will determine the best method of treatment, and treatment, in turn, will become individual.

It is worth noting that smaller-scale projects have already been implemented earlier. So, a group of Canadian geneticists from 2011 to 2013, using the method of genetic analysis, were 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 difficult to identify diseases will cease to be rare.

Portal "Eternal youth" http://vechnayamolodost.ru25.02.2015

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