What origins do Peruvians have? Ricardo Fujita replies: “If we put all Peruvians in a blender, 70% of our genome is indigenous and Andean”

-Genetically speaking, what is the Peruvian?

Genetically, the Peruvian is a mixture of several origins. In a study that we did in 2013 where we compare the genetic markers of 90 communities nationwide, we discover that, if we put all Peruvians in a blender, we find that 70% of our genome is indigenous and native. Eye, with these terms, I not only mean people with Amazonian and Andean roots, but also to groups that nobody thinks, such as on the coast of Peru we have surnames such as Yaipén or Guapaya, who are neither Quechua nor Spanish, but typical of the place.

-And the missing percentage?

The remaining 30% depends on geography. Obviously, in the Chincha area they have more components of African miscegenation, while in the northern zone there is also a lot of Asian component, as is in my case.

-Then the percentage also varies depending on the area

For example, in Lima the percentage of indigenous ancestry is close to 65%, more or less, so we see that we are not so different from the rest of the country, because in reality during the last 70 years Lima is Peru, literally, and 95% of Peruvians living in the regions have a Lima relative.

There are also rural areas, in Loreto and the Andes, where the level of indigenous ancestry is greater. Additionally, there are places where there is a perhaps unexpected percentage, such as some areas of Cajamarca where we see European ancestry are high, where compared to 70% average only have 60%, 50% or up to 30%, which gives a genetic explanation to this imaginary that we have of the Cajamarquino Alto, with clear eyes and ‘White’.

-So we are giving with what is called a ‘crucible of races and cultures’

A melting where its base is the indigenous population. If we see a map of the prehistory and history of South America, we find that the region began to be populated since 13,000 BC and with the passage of millennia the population began to concentrate on an area that is now part of the north of Peru. As it grew, until the last 500 years, most South Americans lived in the territory of Tahuantinsuyo, with 2/3 of the population living in an area that was around 1/7 of the total subcontinent.

Then, historical issues that we already know as the conquest and change of the incanato to the colony modified the panorama. Another important factor and sometimes ignored was that of infections that, as calculated, killed 9 out of 10 people between 1532 and 1632. The populations that survived were the ones that were most concentrated and were more resilient, the Andean countries such as Peru, Ecuador, Bolivia, northern Chile and Argentina, as well as southern Colombia.

-Why is Peruano’s genetic research important?

Peruvians are part of 80% of the world’s population that has not been studied as it should. Most of the things that are learned in medical, biology and anthropology books have generally been developed by the so -called first world countries and most of these texts have been written by Europeans or descendants of Europeans. So, what we have realized is that what has been studied from these Eurocentrist references, for example medicines and responses to infections, does not respond exactly in the same way when it comes to other populations.

For example, in the human genome project – considered the paradigm of the genetic study – 18 of the 23 people whose genes were studied were European, while the rest were African -American, one or two Asians and finally two people who were identified as ‘Latinos’. But for genetics, there is no worse definition than this word, because the Peruvian Latin can describe me, Ricardo Fujita, you, Juan Luis del Campo, and also someone like Jefferson Farfán.

-Signing with this line, a few years ago you participated as a geneticist in The first scientific study of Duchenne’s muscular dystrophy (DMD) With Peruvian patients. How did this research benefit patients of this rare genetic disease?

In genetics we also investigate rare diseases where this rare ailment called Duchenne’s muscular dystrophy that is caused, in most cases due to the lack of a piece of gene in patients, and, on less, because there is a change of ‘lyrics’ in the genes that change the meaning of everything. Among the benefits of investigating these diseases is first that it helps to diagnosis, which for a father is the difference of day and night knowing what the suffering of their children is even at a molecular level. In addition to that, in many of this type of diseases and in the case of DMD, medicines are being developed that are showing positive results within the populations, but that to prescribe them is important to know where the error is at a genetic level.

-Toly, what has already been studied. Do we know what are prevailing diseases in Peru?

What we know in the case of rare diseases is that, as the name implies, they have little prevalence, although not necessarily the proportion we see in Peru is that of other sides. The second is that, returning to the example of the DMD, although many of these genetic mutations have been detected in other countries, most of the changes we find in Peru are new and native, so it is a little studied population. We do not find that only in the muscle dystrophy of Duchenne, but also studying cases of the “butterfly children” in which 26 of the 50 cases were completely new genetic changes, not written before in science. The same with Ivory syndrome or hereditary blindness, which are caused by mutations that have not been previously published in the world and that we can now study thanks to this sequencing technology, which allows reading, letter per letter, the alphabet of our genetic instructions.

-In that aspect, how do the machines enabled with new generation genomic sequencing technology that they received from MGI will help the study of genetics in Peru?

It is day and night. In genetics there is a technology called sequencing that consists of finding a gene and comparing the samples of a normal person and a patient, which possibly lets us see the cause of the disease. This is beautiful when it is a single gene for a single disease, but some ailments such as pigmentary retinosis have almost up to 80 genes to review, which makes the task humanly impossible if we take into account that reviewing a single gene is the equivalent of finding a spelling failure in a book of the size of the Bible.

The new technology, which is called MGS or Next Generation Sequencing (next generation sequencing) and has been used for about 15 years, what it does is no longer reading the letter letter by letter to find the error, but, continuing with the metaphor, gives you the faith of errata, indicating the exact position of the error. It is a technology that in our laboratory we have begun to use like a decade ago, sending samples to Korea, China and the United States, but was not present in South America. Recently, the MGI company offered to work with the University of San Martín because we are a reference in matters of rare diseases and cancer using genetics.

-From my ignorance position, it sounds a bit like the artificial intelligence models that have become so popular now.

There is a part of artificial intelligence, because for our work we obviously do not use paper or excel pencil, but a discipline known as the bioinformatics in which we work with databases that have references of healthy and sick genomes. Then many programs are used with ‘Machine Learning’ that allow us to work as much data and filter the things that interest us.

-What do you think of these commercial genetic tests that have become popular in recent years? Do they present relevant information for their users?

I think so. You have to determine two things. There are different companies like 23 Andme that offer them and how I said at the beginning, there are certain characteristics that own the European, Asian and African continent. So if I take the exam, you will probably find that I am 50% Asian and 30% Cajamarquino or there and that information will serve you and until I accept it. But there are other companies that tell you that you have the possibility of having cancer or Alzheimer’s and that must be taken with tweezers.