Exchange and comparison of the genotype of different people will allow doctors to treat rare diseases
Last reviewed: 23.04.2024
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Six-year-old boy Noah suffers from a disease that is unknown to medicine, with the state of the child worsening day by day. This year, specialists monitoring the boy decided to send out the genetic information of a small patient to all the medical institutions of the world in the hope of identifying the disease. Doctors want to find another person who suffers from a similar disease, which will help to recognize the disease and cure the child. If there is not a similar case in the whole world, there will be no hope of a cure for Noah.
The case with the boy is one of many where it is necessary to search and compare human genotypes for the purpose of diagnosis and effective treatment. To carry out this work, a reliable system is required that will allow you to quickly find and compare genetic information. A group of programmers from Toronto have already started testing the system for the exchange of data on the genotype between doctors from different countries. Developers have named such a system MatchMaker Exchange and its main goal, to date, is to establish contact between doctors from different countries who are researching rare gene mutations.
Not only programmers, but also genetics, practicing specialists, as well as employees of the IT sector are working on the project.
David Hausler, a specialist in bioinformatics, is one of the developers of the new system, he said, to date, experts have been able to decipher the DNA of about two hundred thousand people and this does not stop the decoding work.
Today, there are already projects to create a single database for the storage of already deciphered DNA, but there is no system for exchanging such data.
The further development of medicine largely depends on the rapid exchange of data associated with genotypes, as well as in the ability to compare some sections of the DNA of different people.
David Housler is the founder and one of the technical executives of the Global Alliance for Genomics and Health, founded in 2013, whose specialists work on the creation of various systems, and also develop interfaces for them. According to experts, the main problem in the introduction of a system for the exchange of genetic information between doctors is the legislative base of some countries. The fact is that the person's genotype is personal information, and according to the law of a number of countries, such data is forbidden to be placed on the Internet.
According to the developers, solving this problem will help create a network in which the data will be decentralized and have different levels of access.
The advantages of implementing a system for exchanging data on genotypes repeatedly exceed possible risks, as specialists will be able to get the DNA of patients with complex or rare diseases, and compare it with the data of other patients with a similar disease, which will enable physicians to determine effective and individual treatment tactics.
It should be noted that similar projects, but with a smaller scale, have already been implemented, for example, a group of geneticists in Canada for three years identified DNA with more than fifty diseases that doctors could not recognize by symptoms. According to forecasts, if the global system for the exchange of data on the genotypes of people start, then we can expect a multiple increase in successful cases of identification of the disease, which in turn will allow doctors to treat complex and rare diseases.
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