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Sharing and comparing the genotype of different people will allow doctors to treat rare diseases

 
, medical expert
Last reviewed: 02.07.2025
 
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02 March 2015, 09:00

Six-year-old Noah suffers from a disease unknown to medicine, and the child's condition is getting worse day by day. This year, specialists monitoring the boy decided to send the little patient's genetic information to all medical institutions in the world in the hope of identifying the disease. Doctors want to find another person who suffers from a similar disease, which will help identify the disease and cure the child. If there is no similar case anywhere in the world, then Noah will have no hope of being cured.

The boy's case is one of many where it is necessary to search for 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 for quick search and comparison of genetic information. A group of programmers from Toronto have already begun testing a system for exchanging genotype data between doctors from different countries. The developers called this system MatchMaker Exchange and its main goal, as of today, is to establish contacts between doctors from different countries who study rare gene mutations.

The project involves not only programmers, but also geneticists, practicing specialists, and IT sector employees.

David Hausler, a bioinformatics specialist, is one of the developers of the new system. According to him, to date, specialists have been able to decipher the DNA of approximately two hundred thousand people, and the work on deciphering does not stop there.

Today, there are already projects to create a single database for storing already deciphered DNA, but there are no systems for exchanging such data.

The further development of medicine largely depends on the rapid exchange of data related to genotypes, as well as the ability to compare certain sections of DNA from different people.

David Hausler is the founder and one of the technical directors of the Global Alliance for Genomics and Health, a company founded in 2013 whose specialists work on the creation of various systems and develop interfaces for them. According to specialists, the main problem in implementing a system for exchanging genetic information between doctors is the legislative framework of some countries. The fact is that a person's genotype is personal information, and according to the laws of a number of countries, such data is prohibited from being posted on the Internet.

According to the developers, the solution to this problem will be to create a network in which the data will be decentralized and have different levels of access.

The benefits of implementing a system for exchanging genotype data far outweigh the possible risks, as specialists will be able to obtain DNA decoding of patients with complex or rare diseases, as well as compare it with data from other patients with a similar disease, which will enable doctors to determine effective and individual treatment tactics.

It is worth noting that similar projects, but on a smaller scale, have already been implemented earlier, for example, a group of geneticists in Canada identified more than fifty diseases in three years using DNA analysis, which doctors were unable to recognize by symptoms. According to forecasts, if the global system for exchanging data on human genotypes is launched, then we can expect a multiple increase in successful cases of disease identification, which in turn will allow doctors to treat complex and rare diseases.

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