The genome in the network, the personalized medicine of the future

Biology says that on a scientific level it is impossible that there be two identical people in the planet. While it seems evident, first, to locate the answer there is that deeper something else in the cells. Specifically, go to the DNA. Humans share about 99% of the genetic information, but in that range there are alterations that make us unique and give us a document of identity is genetic, immutable, and also be an unalterable one. In addition to this, these alterations have important information about a topic that is of concern to all: the health.

The predisposition to certain diseases, the chances of developing a tumor and the efficiency of a treatment on the body are certain data is written in the genome. With the new technologies, the access to this information is increasingly easy and economical and, in recent times, have been born companies that offer services on the Internet in this sense.

In particular, as a patient seeking to know its genome, or for academic purposes, such as the centres of genomics research, the reality is that every time you are producing more and more sensitive data that should be stored in secure sites and reliable and who can open the door to the medicine adapted to the future. The revolution of the genome has not done more to start.

The key to the diagnosis of diseases

In the year 2000, it was announced for the first time this milestone: most of the human genome had been sequenced. Three years later, the Human Genome Project succeeded in sequencing the DNA chain complete. The cost of the project stood at 2,700 million euros. What is the reason you decided to invest so much money in the genomic sequencing?

To have this knowledge promised to move forward with great strides in medicine. “Already used to two vital issues: the diseases strange, and cancer. If you have a patient with a series of symptoms that do not identify, you can search if there are other people on the planet with exactly the same genetic mutations to give with the diagnosis”, explains the director of the Centre for Genomic Regulation (CRG) in Barcelona (Spain), which is a part of the File European Genomes and Fenomas (EGA), Luis Serrano.


There are diseases that can be treated with gene therapy and “discover where to find the mutation makes it possible to correct, even in children already before they are born,” said the expert. As happened with the actress Angelina Jolie, “can we predict if a woman has a high probability of having BRCA1 or BRCA2, two genes that determine the risk to suffer cancer of the breast and ovaries,” says Serrano. There is also a genetic mutation that reflects the intolerance to gluten, and may determine the predisposition to disease, cardiological and neurological.

Your genome to the scope of the computer

Eighteen years after the first discovery, the advancement in technology has helped to break the economic barriers. Gone are those 2,700 million euros: you can now sequence your genome for less than 500 euros. To interpret it and examine it is another story.

This way were born companies such as 23andMe in the united States, in Spain, Made of Genes , and in Uruguay Genlives, that offer sequencing of some parts of the genome (called exome). The user should only buy the service on the website, as you would on any other selling platform online, and receive a kit to send in your saliva by secure mail.

“We developed the tools and the technology to which the patient has access to their genomic information in a recurrent way during their life “, explains the CEO and co-founder of Made of Genes, Óscar Flores. Provide the analysis, by 450 euros. After, the service of monitoring genomic costs 10 euros per month.

The company this entrepreneurial, award-winning as one of the Innovators under 35 Spain 2017 by MIT Technology Review in Spanish, works with the Government of Dubai, that you want to sequence 100% of the population in the not too distant future and also incorporate plans of medicine adapted.


In Uruguay, the creator of Genlives and the winners of Innovators under 35 Argentina and Uruguay In 2016, Lucia Spangenberg, also dreamed of cheaper, a technology “to bring you the genomic sequencing to physicians and patients.” Your service middle costs between 1,000 and € 1,600. “With diseases that have no symptoms are heterogeneous is quite difficult to give the key, but if we sequenced parts of the genome we can determine the causal mutations,” explains Spangenberg.

For this, you have to dive among the millions of mutations that have the genome and filter out the relevant variations. Hence, “we joined the information technology company Quanam, and develop a platform that uses machine learning and big data to prescreen mutations”, specifies Spangenberg.

Sensitive information

What could happen if the information about our genes should fall into the wrong hands? “The genome is perhaps the sensitive data that exists,” begins Flowers, that in spite of this, ensures that should not be a fear extended. “At the legal level, an insurance company may not employ the data for it, just as you can’t use the clinical records. Also the companies can obtain these reports from the mutual, by the fact that there are confidentiality agreements,” he explains. Serrano remembers that they are likely to: “A private company is not going to stop hiring you that you have 8% chance of having a stroke.”

The citizens of europe and north america are covered by the law, but Spangenberg is concerned that in Latin america this comes later: “sometimes there are gray areas and legal loopholes. I wish the laws were at the speed of science”.

Despite the fact that the average citizen should not worry too much, Flowers launches a speculation: “What happens if it spreads the genome of the president of the Government? A rival politician could extend that tends to alcoholism, depression, or Alzheimer’s disease. It is a matter of national security”.

Also, we have tried to create databases of genomic data for some legitimate, such as Kuwait, which he wanted to compile the DNA of each and every one of the citizens and tourists that entered the country to study crimes and events without the fix. “It was overturned because it violated the laws and violated the presumption of innocence a person has,” says the CEO of Made of Genes.

A secure storage and limited

What form should be saved information so sensitive? What local or in the cloud? In Genlives started with the server of the Institute Pasteur of Montevideo (Uruguay), although “now we have begun to migrate it all to a cloud of the country with many layers of security. Never store the name of the patient and their data together; this way, if they can hack the cloud, they could not identify the person,” explains Spangenberg.

In Made of Genes used in conjunction of the cloud and data centers, and saved each genome with a unique key that only the patient has. “To open the data must sign a permission electronic and is the only one that can give you access; behind, there is a second key that encrypts the whole database”, specify Flowers.


In the EGA, which saves data of 800,000 people from all over the planet for scientific research, anonimizan also the genomes. The scholar of the Barcelona Supercomputing Center, the center that holds several of these data, David Torrents explains for what reason opt for the hard drives: “we Talk of petabytes [101⁵ bytes] of information, it is possible to have it in the cloud, it’s too heavy. In truth, one of the big disadvantages of biology and medicine is where to go to save all and every one of the facts that are occurring”. To ensure the security, Torrents points out that “they are not connected to the planet outside, if a researcher wishes to use them must get them out of the database and send them from another computer”.

The medicine of the future

Flowers notes that, with knowledge of genomic medicine will be prescribed with greater precision. In the fight against cancer, Spangenberg explains that, “if we know what occurs molecularly, we are going to do specialized treatments of chemotherapy: if we have found a variation in the genome associated with a high toxicity to a therapy, we can give time another alternative option”.

Is there going to be tested then the entire genome? Do with diseases that have no cure and do not want to know? No, Flores explains: “This is as purchased from an encyclopedia: you don’t read it from beginning to end, but when you have a doubt look for a specific article. A doctor will never affirm that you have the danger of Alzheimer’s disease if you can’t do anything against it and it is not what you are looking for”. There are countries, like the united Arab Emirates, where it is mandatory to undergo these genetic tests before marriage by the high consanguinity.

Although it is still necessary to improve details and continue moving forward, Flores is clear that genomic medicine is just around the corner: “we Tend to a genome-wide of cost zero, and you are going to arrive massively at the population as a blood test and an x-ray. I dare say that next year the entire planet will be talking about the genome in the street.” Spangenberg has been corroborated: “It has been marked that the medicine go down this road. There is no turning back“.

Source: Opinno, publisher of the MIT Technology Review in Spanish

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