DNA on the Hamburg account
"Nationality is in our head, not in our DNA"
Olga Orlova, "Trinity Variant"
From the editorial office: On July 5, 2021, Oleg Balanovsky, a remarkable scientist and popularizer of science, head of the Laboratory of Genomic Geography at the Institute of General Genetics of the Russian Academy of Sciences, tragically died. We offer our condolences to the family and friends Oleg Pavlovich. He has repeatedly participated in the Hamburg Account program on OTR. We publish the material based on the results of his last speech.
Genetics helps to solve crimes – this is well known from detective books and TV series. For the first time, the method of DNA analysis for criminologists was described by English biologist Alec Jeffries in 1985. And since then, the knowledge of scientists has been helping to find criminals more and more accurately. How? They told about it Olga Orlova in the program "Hamburg Account" researchers of the Institute of General Genetics of the Russian Academy of Sciences named after N.I. Vavilov – Head of the Laboratory of Genomic Geography Oleg Balanovsky and Head of the Genome Analysis Laboratory Svetlana Borinskaya.
– The knowledge of geneticists has been used in criminology for more than 40 years. And today we are already used to the fact that biological traces of a person are necessarily collected at the crime scene. What do these footprints say?
Svetlana Borinskaya: Since the 1980s, DNA has been used to identify the perpetrator. It allows you to accurately determine whether, for example, a blood sample from the crime scene belongs to this person or not. In order to establish this, you need to take blood from the suspect or scrape from the cheek mucosa, that is, the material from which DNA can be extracted, and compare it with the DNA profile found at the crime scene. Of course, the use of these techniques has increased the detection of crimes. It was a scientific breakthrough that was first used in England, but then in other countries. However, now there are other techniques that can give information about a person based on DNA analysis. For example, if the criminal or suspect is not around, then how to find him? Sometimes only biological traces at the crime scene can tell you something.
Anything can serve as a material for analysis, if there is DNA there. It may even be fingerprints. However, these methods are so sensitive that it is necessary to collect materials for analysis almost in a spacesuit. Wearing gloves, a mask, a hat, so that the hair does not fall. If the investigator sneezes, they will analyze his DNA, and not DNA isolated from barely noticeable traces at the crime scene. Criminologists told such a story. Once, during the investigation of a murder, small blood stains of an unknown man were found on the victim's clothes (the body was found in the forest). DNA was isolated, they began to look for this man, until it turned out that it was the DNA of the investigator who conducted the examination. He took all precautions, but a mosquito landed on his forehead, he swatted the mosquito and did not change his glove. This was enough to leave his traces on the victim's body.
– And how often do geneticists have to contact investigative agencies or special services? In television series, we see that all analyses of biological materials are carried out inside special departments of law enforcement agencies. They have well-equipped laboratories. They employ employees who possess genetic information about people. This is how it looks in the movies. But really?
Oleg Balanovsky: This is the case where cinema is absolutely fair.
– Really?
O.B.: Yes, yes. In our country, the Ministry of Internal Affairs, the Investigative Committee, the Ministry of Defense, the Ministry of Health have their own forensic laboratories that really carry out a full cycle of work – from DNA extraction to comparison with databases. Researchers are usually approached only in the most difficult cases or for new methods. For example, in the case of a DNA identification program, if you need to develop new technologies that will then be used by criminologists. Although, you know, the border is not so clear. Because criminologists are also interested in science. Several employees who studied with me and defended themselves went to work in investigative laboratories. Of course, scientists and criminologists are completely different worlds, completely different logic and completely different lifestyle. But both are geneticists. And, of course, we know each other well and communicate.
– Speaking of new methods. Criminals who can change the DNA profile have already appeared in the series. Naturally, these are criminals with a biological education. Have you ever encountered such a thing in reality?
S. B.: Such a case was in Canada. The doctor raped his patient. I pre-anesthetized her, but her consciousness did not completely shut down. She filed a complaint with the police. The police took blood from the doctor. And the DNA profile from the blood turned out to be completely inconsistent with the traces of sperm that this lady provided. But she insisted on an investigation. They took it again – it didn't match again. Finally, the patient turned to a private detective. And he took the hairs from the headrest of the car seat and other biological material of this doctor. And from this material, the profile matched the traces from the crime scene. It turned out that this doctor inserted a catheter into his vein and filled it with someone else's blood. And when they took blood from him, they just took blood from this catheter, not his own.
"But it's just an illusionist's trick. Is it really possible to fake a DNA profile?
S. B.: At a certain level, it is possible. You can synthesize the same DNA fragments as another person, if they are known, and throw them somewhere, pretending that it is him. But in fact it is very easy to expose. Because DNA research methods are developing rapidly now. And if earlier the analysis of one gene was the topic of an entire dissertation, now students are sequencing complete genomes. The complete genome cannot be faked, and it is unlikely that it will ever be possible, because human DNA has many characteristics of both the genetic profile itself and lifetime modifications that are completely unrealistic to fake. So it's just for the movies.
– Oleg, what exactly can you find out by biological traces?
O. B.: In almost the vast majority of cases, identification is carried out, that is, a comparison of the analyzed sample with an extensive database of genetic profiles. From a scientific point of view, this is not interesting, but this is how 99% of all examinations occur. To do this in Russia and other countries have laws on genomic registration, which prescribe that all people who have committed sufficiently serious crimes must necessarily donate their DNA. And there are conflicts between civil liberties and the interest of the state, because the state, of course, would like everyone to be in the database: if suddenly he commits a crime, is unreliable or something else, then it will be easy to detect him. But citizens, of course, do not want their freedom to be limited. One of the compromises is the Genomic Registration Law, where privacy rights are limited for those who have committed a crime. This is the practice of our country and other developed countries.
But there are also more interesting tasks for scientists. For example, DNA can determine the origin of a person, the population and the territory where he comes from. My laboratory is directly involved in this. And if a person has genes of hereditary diseases, then this will be a very clear indication for the investigator. But such options are too rare. More often we identify signs of appearance that are easy to notice. We are working on the color of the eyes and hair. They can be determined with varying accuracy. Generally speaking, many traits are determined genetically to one degree or another. There are large international consortia that study such signs. But the further, the more difficult it is. For example, with the color of the eyes it was quite easy, with the color of the hair – more difficult, with the color of the skin – much more difficult. And when moving, for example, to the shape of the nose, to the structure of the eye socket, to the shape of the ears, to the type of patterns on the fingers, and so on, it is much more difficult.
– Can the fingerprints themselves be predicted by genetics?
O. B.: No, you can't. But it is already possible to determine the age by the standard method. Literally up to three or four years.
– Oleg, you said that it is possible to determine the origin. But what does it mean? Ethnic origin, geographical origin, nationality – what does it mean?
O. B.: When it comes to populations of large megacities or such melting pots as the East Coast of the USA or London, Moscow, even just continental origin is informative: you can determine whether it is the DNA of a person whose majority of ancestors are from London, or an African American, Chinese, white American, Arab or Indian who arrived in London. The same is true in Moscow. To a slightly lesser extent than in New York and London, but we also have a lot of people whose genetic profiles are completely different from each other, you can determine the origin with accuracy to the continent or to the subcontinent. This is how these studies have been developing for almost 20 years. Gradually, researchers are trying to move to greater accuracy. There were works where it was possible to determine the country of origin. And in Europe, the countries are small in territory. At one time, they even tried to determine the village from which a person hails. But this, of course, cannot be determined.
And there are two aspects here. Firstly, it is the geographical, or, if you like, ethnic accuracy that needs to be determined. What do we want to define? The continent of origin, the country of origin, the region within the country, specifically the population. The more fractional we determine, the lower the accuracy, the greater the probability of errors and the more effort we need to make.
And the second limitation is practical applicability. Generally speaking, we mention criminals all the time, but a huge number of people themselves want to study their origins.
I would say this: if a person wants to know his origin, then it is genetic genealogy. And if the police want it, and he himself would like to remain anonymous, then this is criminology. But the methods in both cases are exactly the same. The difference is that when a person gives DNA himself, there is a lot of this DNA. And it is possible to carry out an analysis up to the complete decoding of the genome and carry out the most subtle scientific analyses. If we are talking about traces, about flushing from the handset, then there is not enough material for genome sequencing, and we have to limit ourselves to a few dozen, well, a maximum of several thousand genetic markers. And already their number sets the resolution.
– And yet: is it possible to determine the nationality of the criminal?
O. B.: To answer your question, we must first understand what nationality is. All researchers agree that a person's belonging to a nation is determined not by his genetics, but by his self-consciousness. Nationality is in my head, not in my DNA. Will we consider Pushkin an Ethiopian poet or a Russian? And Mandelstam? Nationality is really connected with biology, with population. But this connection is indirect.
If we postulate a direct connection – biology determines nationality – then this is one of the postulates of racism. And it's not even that he's racist, but that he's scientifically incorrect.
But the feedback works in the opposite direction. Because when people believe that they belong to the same people, they are more likely to marry each other. And marriages are what forms the population, and the population has its own gene pool. That is, it turns out that a biological population does not create a people, but a people, some existing mentality, creates a population. That is, the complete absence of materialism and complete idealism, if we return to Soviet terminology.
We cannot say anything about the self-consciousness of the person we are studying, to which people he refers himself, but we can say that he has those genes that are characteristic of people, his ancestors, who referred themselves to such and such a population. But here again there will be a question of accuracy. For example, it is quite easy to determine the origin by the full or even partial genome: for example, the ancestors of this person originate from the Caucasus. It's very easy. But to determine which of the peoples of the Caucasus they belonged to is a much more difficult task.
– And what does the wording sound like when you determine the population by DNA analysis?
O. B.: The most accurate formulation is the probable population of the origin of human ancestors. That is, there are several restrictions.
We can't say anything about the address: where the person is registered and even where he was born. We can only talk about which population his ancestors belonged to. This is the first limitation.
There is also the second. We have invented such a term as an ethnogeographic group. It combines both geographical dimension and ethnicity. That is, for example, several peoples related by gene pool, inhabiting the same territory, form one ethnogeographic group. And we did a lot of work to determine at what level of resolution it can be done reliably, and at what level it cannot. For example, with great difficulty, the Caucasus was divided into four groups: the Western Caucasus, the Central Caucasus, the Eastern Caucasus and Transcaucasia. With good data, it is possible to determine the origin of a person from one of the groups.
– And if we are talking about residents of the Urals or Kaliningrad, some of our western region, then how?
O. B.: The same thing. The population to which the ancestors belong is determined. There are no big problems in the western region, because in the Urals a significant part of the population is indigenous – Tatars, Bashkirs, Udmurts and so on. But in Siberia the situation is much more interesting. Because Russians make up the majority of the population there. And all we can say is that their ancestors come from somewhere in Central or Southern Russia. Or we can distinguish Northern Russia. Here the Russian North (Arkhangelsk, Vologda regions) differs quite well. And in relation to Siberia, this is interesting, since part of Siberia was settled by targeted migrations from the Russian North. That is, for the vast majority of the population of Siberia, genogeographic analysis will point to Central Russia. This will be correct, because that's where their ancestors come from. Or for representatives of the indigenous population (Altaians, Yakuts, Buryats, Tuvinians and all the rest), the analysis will show Siberia. This, again, will be correct, since they come from the indigenous populations of Siberia.
– And the information about this is stored in databases by region?
O. B.: Both we and other teams are collecting a database on the project that is currently underway: another, perhaps the largest database on the population of the country is being created. Initially, the information there is very accurate. These are several hundred well-defined populations. For example, the Russians of such and such a district of such and such an area. Mansi of such-and-such district of Khanty-Mansiysk district. Or Komi of the same district. Several peoples can live on the same territory. These will be different populations. In the database itself, this information is stored accurately. But when it is necessary to determine the origin, here we are limited by the resolution of the analysis. There, these populations are grouped into three dozen such ethno-territorial communities, and we determine the origin of a person from one of these 30 groups. On the one hand, this is less than we would like. After all, any investigator dreams of being told a person's residence permit. But any person who studies his pedigree dreams of the same thing – to find out exactly the village where his grandfather lived. Alas, this cannot be done. Only, roughly speaking, up to a thousand kilometers, but not in more detail.
– Svetlana, you are the author of the chapter on genetic examination in the textbook on criminology. There you write that the use of DNA analysis has significantly affected the detection of crimes. You provide data for the UK. Before DNA analysis was used, the detection rate was 13%. Then, when they started using DNA analysis, it already increased to 30%. But when they began to use DNA profile databases, then this, together with DNA analysis, increased the detection rate of crimes by up to 60%. Why?
S. B.: Because this method is based on the fact that the characteristics of a person's DNA are as individual as fingerprints. It was so named: DNA fingerprint. There are areas in DNA where people differ. They can be studied and the characteristics of these sites can be entered into these databases. And this will be called a DNA profile, which significantly increases the disclosure.
This technique has become routine in the hands of criminologists. But it is used not only for criminals. When disaster sites are studied and unidentified bodies are found, then, thanks to DNA analysis, the relatives who arrived can find their dear person and bury him. And there are two objects of comparison here. They look at the coincidence of certain characteristics. So you can establish an identity: a blood stain from the crime scene or some kind of fat trail belongs to a specific person who was suspected, or does not belong. And you can establish a close relationship. For example, children and parents. Or brothers and sisters. You can install a grandfather and a grandson, for example. A more distant relationship according to these genetic profiles is not established (other approaches are used to establish a distant relationship, the relationship is determined by male and female lines, by the Y chromosome and by mitochondrial DNA).
Why does the detection rate of crimes increase when they begin to study DNA? It is clear that if they found out who the trace belongs to at the crime scene, then the crime was solved. But at first, if a person somehow got into the circle of attention of criminologists, but was not recognized as a criminal, his DNA profile in the database was destroyed.
For some reason, some people often found themselves near crime scenes, their DNA profiles began to be stored - not only criminals, but also those who were suspects. This increased the disclosure. When databases with DNA profiles of criminals were collected, this also increased the detection rate, because some crimes are committed repeatedly by repeat offenders. And if a person once came to the attention of the law and his DNA profile is stored in forensic databases, then next time a drop of blood will call the name, surname and patronymic, they will say: and we already know him. For example, when investigating the terrorist attack at Domodedovo Airport, they also used this approach. And there was no DNA profile of the criminal in any forensic databases. That's when they turned to geneticists. And here we have already started using not forensic databases, but those that are called population databases. When was the law on genomic registration introduced in In Russia (in 2008), then several unsolved crimes were solved. They began to collect DNA from criminals, and traces from long-standing crimes were compared with newly collected DNA of criminals. And, for example, they solved a rape case that happened 10 years before this study. And the person who committed this was in prison for another crime, so they already took a sample from him for DNA isolation. Another example was an interesting case of stealing money from a woman on a train. She pointed out the suspect. They really found money from him. He said, "This is my money." We looked at this money and saw smudged fingerprints. The fingerprint itself could not be identified, but DNA could be isolated. Singled out – it turned out that it belongs to this woman.
– The method you are talking about is called DNA fingerprinting. But the real fingerprints of a person are erased! And there is even a joke that it is better to commit crimes in old age or in old age, because it is more difficult just to identify fingerprints. If we talk about biological traces by which DNA is determined, how long is it stored, how long can it be determined?
S. B.: Firstly, the genetic profile of a person does not change from birth. And it doesn't matter when he left traces – on an empty stomach or after a hearty lunch. Was sick or healthy at the same time. A person's DNA does not change from the moment his parents created his set of genes. Some characteristics change, according to which, for example, age is determined. Chemical tags are attached to DNA. And in some places there are more of them with age. And in others – less. And when the level of change of these labels is determined, then a conclusion about age is drawn from this. But the DNA itself, its genetic profile, does not change.
– If we are talking about the preservation of DNA, the most famous case we probably have is the investigation of the murder of the royal family. The remains have lain for more than 80 years…
S. B.: Yes, it was in the 1990s. First, the remains of the alleged emperor, Empress and three children were found. Alexey and one of the sisters were absent. After a while, their remains were also found. But they tried to burn them, poured acid. Therefore, there was very little material for analysis. However, it was possible to conduct a genetic examination. It was first conducted by Pavel Leonidovich Ivanov, a well-known expert in this field. And the second examination was conducted by Evgeny Ivanovich Rogaev, one of our most famous scientists, who is absolutely masterly in these methods and offers new methods. There is a famous shirt of Emperor Nicholas II with traces of blood. And it alone would be enough to determine that these are the remains of Nicholas II. Because establishing identity is a well–established technique. But, since the case is high-profile, all imaginable types of analysis were carried out. The relationship in the male line with the descendants of the Romanovs who lived at that time was investigated. Kinship in the female line was investigated and Nicholas II, and Empress Alexandra. And Evgeny Ivanovich Rogaev even found a mutation that caused hemophilia in Tsarevich Alexei. It was very difficult to look for such a mutation in the dust, with a minimum amount of biological material. But he succeeded. We now know what the genetic damage was that brought so much grief to the royal houses, the royal houses of Europe, because several descendants had this disease.
– But why, then, are the studies of the remains of the imperial family still continuing?
O. B.: Everything has been clear to scientists there for a long time since the works of Ivanov and then Rogaev. But society remains ignorant even about the basic laws of genetics… I myself have repeatedly had to prove to interested people that the issue has been solved from a scientific point of view, but new and new examinations are emerging to make sure again and again what has been known for a long time. And both state and church examinations are carried out. There's already a significantly longer range than 80 years. There and previous emperors are included in this study. And modern descendants, and various bone material of the Yekaterinburg remains. And again and again the authenticity of the remains is confirmed. Such forensic tasks have not reached mammoths yet. But 500 years is probably the longest interval when identification and some kind of investigation was carried out, which can be called criminalistic with a stretch.
I'm talking about the remains of Richard III. We remember Shakespeare's chronicle. And the identification of whose skeleton exactly was made just by genetics. Firstly, this extremely powerful method, which has indeed been used for more than 30 years, has led to the fact that, as criminologists say, researchers, instead of turning on their heads, turn on our hands. When high–profile crimes occur, especially high–profile ones, investigators are tempted to gather the widest possible circle of suspects - the entire population of this area, hundreds of thousands of people - and conduct a genetic analysis for everyone. And with a high probability the criminal will be found. This approach is effective, but ineffective, because it is clear that the same result could be achieved without forcing forensic experts to spend weeks at night in the laboratory conducting these studies.
We come back again and again to the fact that science now provides quite a lot of means for criminologists to guess something from DNA: to say something about a person's origin, about appearance, to estimate his age, and so on. Nevertheless, the main method (probably, this is correct) remains identification – a simple coincidence of DNA profiles, a trace profile from the crime scene and a suspect profile or a profile from databases. There are a lot of such databases. And a significant part of people are already (tens of millions) present in these databases. There are many examples when DNA found at the crime scene had no analogues in state databases. Then the police turned to private databases and found similar DNA of people's relatives. And when you can find several dozen of his relatives, among them or through them, the desired criminal is quite often found.
– Is this a conflict between state interests and civil liberties, when the state wants to have a database of everyone and everyone, and people do not want it because it is a violation of their rights?
O.B.: Yes. And many genetic and genealogical companies are trying to somehow maneuver between Scylla and Charybdis, because if you stop publishing databases, then people's interest will disappear. The interest is just that when I establish my genetic profile, and there is a huge database, I can find my relatives about whom I know nothing. If these databases are closed, then, accordingly, there will be big problems for the development of this direction. If, on the contrary, these databases are made open, then confidentiality is violated.
With the same Domodedovo terrorist, who has already been mentioned, then both we and the investigators were very lucky. The laboratory of the Investigative Committee was just moving from one laboratory to another, and we had common employees who worked both there and there. In one corner of our Center for Northern Eurasia there was a sequencer where the DNA of a terrorist was analyzed, and in the other the work on a PhD thesis on the Caucasus was being completed. And so, comparing one with the other, we found that the terrorist's DNA clearly lay in the Ingush cluster. Compared not only with the Caucasus, but also with other regions in a common database. And that's when I had a very restless night. Because I felt the obvious interest of the investigators. And I was indirectly asked the question: can't you tell the names of the people who gave you DNA? This was a significant ethical problem for me – do donors have the right to confidentiality if a terrorist can be found through them? Then I just closed all these databases so that my own employees could not look, find out the last name of the person, because during the survey we promised people that their information would be confidential. In the case of the Domodedovo terrorist, I was faced with a real ethical problem, with the fact that the protection of the connection between genotype and surname is real.
– How did you solve this problem for yourself?
O. B.: For us, the solution was simple. We promised people privacy, and we provided it. But then I saw that there really are some technical possibilities. Well, that's what goes into any informed consent of a person: how we examine how everyone else works. The genotype itself is not personal information as such, since it is a certain characteristic of DNA obtained from ancestors. While you don't know whose genome it is, this information tells you something about the population, about the gene pool, maybe about the place of origin of a person, but it is not related to a person.
In my opinion, the genome itself is by no means personal data, but the connection of the genome with the one whose genome it is should be protected very well.
– Svetlana, what do you think about it?
S. B.: A major genetic congress was held last year. And I asked experts of all kinds – geneticists, breeders, specialists in bacterial genetics – what they think: if investigative agencies use genetic databases to investigate crimes, whose consent to the use of information is required? There were several possible answers. Half of the younger respondents answered that the consent of the donor is needed, and somewhere more than a third said that no one's consent is needed, especially in the case of serious crimes. In the older generation, the proportion of those who believe that no one's consent is needed was greater. But there was also a noticeable part of people who believed that the consent of the donor was needed. One solution is to ask for this consent when collecting blood or saliva samples. When these samples are collected, they offer to sign the so-called informed consent, which sets out the goals of the study, who conducts it. And the person writes that he voluntarily submits this material and allows it to be used in scientific research. Apparently, the question should be introduced into such forms: can your genetic information be used by criminologists, if such a need arises? And now we have projects to develop the legal aspects of genomic research, including these issues.
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