Eran Elhaik: ''I want to show how our DNA travelled over time until ending up in our cells''

''We had people with detailed genealogies who said that the test confirmed their results''

Dr Elhaik, you claimed at the very beginning of our conversation no such tests existed. What’s the novelty? Could you tell about the project?

Ever since the first human population genetics studies in the mid-’60s, geneticists have been concerned with measuring genetic distances between populations to study their origins. It took the technology another 45 years to be applicable to ancient DNA extracted from skeletons. Recently, we developed GPS Origins, which compares ancient people to modern-day people to infer their recent origins. GPS Origins was useful to help people connect with their parents, grandparents, and great-grandparents, but the test could not go beyond 1000 years. The Primeval DNA Test is the first and only test that broke that barrier by allowing anyone to compare themselves to real ancient people from the past. This was made possible by our identification of a new type of mutations that exist both in ancient and modern-day populations. The first seven groups of people that users can compare themselves to are Ancient Israelites (the most popular test), Egyptian mummies, Medieval Vikings, Chumash Paleo-Indians, Ancient Britons in Roman Britain, and Stone/Ice Age Europeans.

GPS Origins couldn’t exceed 1,000 years. How many years back did you go?

It is difficult to say. We had people with detailed genealogies that went back hundreds of years who said that the test confirmed their results. However, we also confirmed the origins of Near Eastern people who show very high similarity to ancient DNA that goes back thousands of years, it all depends on one’s demographic history.

Is this project your own initiative or is it linked with your job at the University of Sheffield?

This project stemmed from our work as part of our efforts to translate and share the fruits of our science with the general public.

What are the goals of the project?

The goal is to help people reconnect with their past, learn about primeval cultures, understand paleogenomics, and develop their sense of identity and shared origins.

_{The first seven groups of people that users can compare themselves to are Ancient Israelites (the most popular test), Egyptian mummies, Medieval Vikings, Chumash Paleo-Indians, Ancient Britons in Roman Britain, and Stone/Ice Age Europeans. Photo: Marco Almbauer / wikipedia.org}

How many samples do you have at your disposal? What principles did you apply when choosing the remains for the research? Probably there are quite many skeletons and mummies to use.

We have over 2,500 ancient people. The remains are selected based on the quality of their ancient DNA. Some ancient people cannot be analyzed because their DNA is broken beyond our ability to reconstruct it. Unfortunately, this is the case with many African genomes, but we will have some African genomes soon.

Could you explain where these remains come from? Is this research done in cooperation with scientific centers, universities and museums? Who else is involved in it?

Most of the remains come from caves, burial mounds, and specimens that archaeologists have been storing in their basements. It became clear very early on that museum specimens are difficult to work with. Collection of the bones and sequencing is done by several centers around the world who publish their results, which we then re-analyze. I am involved in the collection of samples from the archeological site, working with the sequencing center at the University of Copenhagen to sequence the DNA, and then analyzing the results.

What archeological sites have you worked at?

At Tel Megiddo in Israel. I sampled the site and now I am analyzing the data.

Is the number of samples expected to grow? Are, for instance, the remains from Asia or other continents going to be used?

Yes, absolutely. We will provide more samples from all over the world and from more cultures. For example, our next release will include Greek warriors, the Mal’ta Boy, Anglo-Saxon Warriors, Ancient Ashkenaz people and Prince Oleg’s people. Our goal is to allow anyone to reconnect and learn about any human culture.

Some samples don’t have age and genetic data. What does it mean?

Age is determined by carbon-dating. If there is insufficient material, the sample cannot be dated. We are developing new methods to overcome this problem. Likewise, there may be insufficient DNA to determine the haplogroups.

I didn’t see Tatars among Russia’s modern-day populations. Isn’t data about them available or is there another reason?

They are scheduled to be included in the next release.

In the next release, we will provide more samples from all over the world and from more cultures. For example, our next release will include Greek warriors, the Mal’ta Boy, Anglo-Saxon Warriors, Ancient Ashkenaz people and Prince Oleg’s people. Our goal is to allow anyone to reconnect and learn about any human culture. Photo: wikipedia.org (Prince Oleg's Campaign Against Constantinople, 1839).

''A small group practising inbreeding would develop a distinct genetic profile faster than a diverse group''

If we look at the results of my DNA test, it turns out that I share the highest genetic similarity with a Chumash Paleo-Indian. The genetic similarity with the other representatives – Ancient Israelites, Vikings in Medieval Iceland, Stone Age Europeans, Egyptian mummies, Ice Age European, Ancient Britons in Roman Britain – is lower. How can you comment on the result? Can it be explained by a widespread hypothesis that ancestors of Native Americans arrived in modern-day America via Beringia?

The Chumash Paleo-Indians are quite ancient. They may not have had time to develop a genetic profile distinct from that of North Eurasian populations. Your high similarity to them certainly supports the idea of North Eurasian origins, which is also shared with other modern populations living in the same region.

How much time does it take to develop a genetic profile?

It depends on several factors, including the initial genetic diversity of the group, the extent of their inbreeding, and rate of migration. A small group practising inbreeding and not welcome any migrants would develop a distinct genetic profile faster than a diverse group where mating is not restricted.

How many people have already participated in the project? What’s the number of people you plan to involve in the research?

I am not involved with the business side of the website, but based on the media coverage that we have been getting, tens of thousands of people have already heard of the project, which was only launched last month. I have no set goal for the number of participants. My goal is to allow anyone to explore their ancient origins with the culture of their interest whether they are Huns, Alans, Rus, Romans, or Judaeans. I want to have them all and provide a clear depiction of how our DNA travelled over time from all these places until ending up in our cells.

Does such research contribute anything new to medicine?

Most certainly. We are very interested in the adaptations and diseases that ancient people had so that we can better understand the spread of their genes. One of the most interesting questions, for example, is the spread of lactose tolerance, which allows most of us to enjoy milk even at old ages. How and when exactly did it spread? Did it develop one time or multiple times? These are all fascinating evolutionary questions that we can now answer much more precisely than before.

Do you cooperate with Russia in this research and in your work in general?

Absolutely, I collaborate with several Russian scientists. The last time I was in Russia was in 2016. My talk was covered by the local news.

There are very few large companies that provide genome-wide DNA data. Their results vary because they manipulate them to appeal to a larger audience. Photo: Medical Genomics

''A genetic horoscope is a generous description. Diagnosis of diseases should be done only by a medical doctor''

Such DNA tests have become just a boom in the USA, it’s a very popular Christmas gift. There is no such buzz in Russia yet. At the same time, a big number of laboratories are already doing such tests. Can their results vary?

You are touching on a very sensitive subject here, which is the reliability of the tests, or if you will, the compromise between science and marketing. Coming from Israel, a state founded by Eastern Europeans, we share much of the Russian inherent skepticism and refusal to go with the herd, especially when it concerns our personal data, which we share with our family and children. There are very few large companies that provide genome-wide DNA data. Their results vary because they manipulate them to appeal to a larger audience. In the case of Ashkenazic Jews, for example, it means masking Near Eastern and Russian ancestries for everyone and distorting the history.

Studies also reported the low accuracy of commercial companies, that is, they provide an incorrect DNA sequence. It is also well known that companies sell the information to pharma companies and allow access by federal agencies. Of course, we all want the police to use the best technologies to catch the bad guys, but I have no reason to trust commercial companies to give the correct genetic data to the police. None of the relatives who were identified for me by one of them was real, none. If one of those fake-relatives would commit a crime, I would be investigated.

Studies show that these companies have high error rates. It is very unfortunate because people who upload DNA files generated by different companies, will get different results, and then ask me which one is correct. How can I know? It depends to which DNA file you believe more.

Have such tests already become fully automatic? Does a human take part in the process?

The Primeval DNA will soon have its own dedicated website and then the pipeline will be fully automatic. Humans are involved in managing the website, developing the tests, doing the research, and doing quality control tests, but they do not determine the results.

Today it’s possible not only learn your origins but also, as many such laboratories write, predict your genetic predisposition to diseases and get dietary guidelines. May we call it genetic horoscope? How reliable is this information?

A genetic horoscope is a generous description, this is more of a roulette. Diagnosis of diseases should be done only by a medical doctor. Self-diagnosis and self-treatment based on genetic tests are dangerous.

The proper way is for the doctor to order the necessary genetic tests, the way that is done now. We collaborate with Mayo clinic scientists in using GPS Origins, because its predictions are useful in diseases that have an ancestry component, like cancer. Photo: twitter.com

Can such a test benefit if a patient is supervised by a doctor? Then it turns into personalised medicine. What’s your opinion about it?

This is one of the prospects of personalized medicine, but it will not come from the direct-to-consumer end. The proper way is for the doctor to order the necessary genetic tests, the way that is done now. We collaborate with Mayo clinic scientists in using GPS Origins, because its predictions are useful in diseases that have an ancestry component, like cancer.

What’s the probability that a disease ''forecasted'' by DNA test will appear?

Genetic diseases differ in their chances of showing up during one’s lifetime. This is due to genetic factors that are poorly understood and lifestyle.

''Science does not measure beauty and there is much disagreement on how to measure IQ or even how to define it''

What’s the role of genetic markers in talent identification?

I don’t know of such usage for genetic markers, but there are people with remarkable athletic talents that have a strong genetic basis. Geneticists would be thrilled given the opportunity to study these mutations.

There is such a popular opinion that children born to parents who have different nationalities are more beautiful and smart. How does science explain it? Are there genes responsible for beauty and intellect?

Science does not measure beauty and there is much disagreement on how to measure IQ or even how to define it. Any study testing those criteria would have to demonstrate that it accounts for cultural biases, which is very difficult.

How does this ''beauty and intellect'' depend on the diversity of genetic mutations?

Beauty is always in the eye of the beholder. Intellect probably has a genetic component, but which genes and how much they contribute are under dispute.

Jason Padgett became a savant after suffering from a head injury. The rewiring that his brain did change his personality and his analytical skills. He wasn’t a genius before that, but did he have the potential to be one had he made different choices in his life or is it all due to the head trauma? Photo: youtube.com

Can one be born as a genius or does everything depend on parents, the environment?

This is part of the debate and there are plenty of examples to support different scenarios including the acquired savant syndrome, in which case savant skills emerge mid-life. Jason Padgett became a savant after suffering from a head injury. The rewiring that his brain did change his personality and his analytical skills. He wasn’t a genius before that, but did he have the potential to be one had he made different choices in his life or is it all due to the head trauma? Was William James Sidis born a genius or became one because his dad worked with him since he was born? It is nearly impossible to answer these questions. By the way, Sidis developed an Out-of-America hypothesis, whereas the ''red race'' of Native Americans colonized Europe in his book The Tribes and the States (1982). This theory is unsupported by the genetic evidence. So, it is probably better to aspire to be a good geneticist than a genius, at least if you are interested in questions of origins.

Development is always fraught with consequences. There are cases when employers did DNA tests to potential employees to exclude certain illnesses impeding from safe work. At the same time, the employees were secretly examined for their addiction to alcohol and so on. In case such addictions were detected, the candidates were eliminated. So now we’re facing not only race or sex discrimination but also genetic discrimination. Will such a test become the norm in the future like a usual check-up?

Most of our tests go back thousands of years. I find it hard to believe that people will use such ancient ancestry to discriminate against people, but then again I never believed that the I would live to see the State of Israel violating its fundamental principle by denying entrance from Russian Jews based on their DNA results, especially since there is not a single marker for Jewishness. So, all I can say is that I hope it will not be misused and will never allow the exploitation of my technology for such purposes.

What popular science books would you recommend to those who are interested in the subject?

I prefer to read books by philosophers, linguists, and historians of science, rather than geneticists so I prefer to read Yuval Noah Harari, Raphael Falk, and Paul Wexler’s books. Genetics depends on models and when these models are oversimplified or just wrong they give incorrect answers. Some geneticists are in the habit of applying the same models for different problems, pretending that there is great wisdom in these models, and ignoring evidence from other fields. I prefer knowing the history of the field and how other scholars approach the problem because their attempts shaped our perception of the problem. We should do a better job thinking how to work together.