by Karin Bojs
Instead, we must learn from history, says Pääbo. One important lesson is that science must be based on facts. It is essential that scientists work empirically on the basis of observations and experiments, not just theories; that lessens the risk of their being seduced by their own prejudices. That racist theories crop up is hardly surprising, given the human penchant categorising each other. But the new DNA research provides no grounds for such beliefs.
Pääbo refers to certain huge projects involving comparisons between the DNA sets of thousands of people from different countries and continents. These have cost a great deal of money, one estimate being US$120 million (£99 million).
‘What have we found out for all the dollars spent? Well, there are some local differences in skin pigmentation and variations in immune defence and our capacity to break down what we consume, such as lactose and alcohol. Thanks a lot – I already knew that,’ says Pääbo. On the other hand, he continues: ‘But maybe it’s been worth spending all that money just because of what we haven’t found. When it comes to the way brain cells work, for instance, there is no difference to be found between different groups and countries. We know that today.’
Another of the researchers who has contributed most to the findings on which this book is based is Mattias Jakobsson. On my way to his office in the Centre for Evolutionary Biology on the periphery of central Uppsala, I walk past the Dekanhuset, which housed the State Institute for Racial Biology in the 1920s and 1930s. The building, which stands next to the cathedral and opposite the archbishop’s residence, is owned by the National Property Board of Sweden. There is a small signpost in front of it with some information about the various activities that once took place there. For the years between 1869 and 1951, it states briskly that the premises were used by organisations including the City of Uppsala, Uppsala University and a primary teacher training college. There is no mention of any Institute for Racial Biology. Precious little seems to have been learned from history.
Mattias Jakobsson’s office is just a few hundred metres from the location of the world’s first Institute for Racial Biology. He has reflected a great deal on what he, as a geneticist working in Uppsala, can contribute with regard to that institute and the history of Uppsala University. He already holds regular popular science talks on genetic variation among people in different parts of the world. In the medium term, he plans to work together with experts in the history of ideas to set up a special course on ethics and history for students of genetics. Jakobsson shares Pääbo’s view that scientists today should not allow their practice to be dictated by the actions of Hitler and the ‘racial biologists’.
The Sami people, for example, were subjected to Herman Lundborg’s quasi-scientific programme of cranial measurement. They were humiliated by being photographed naked and by offensive statements about race and innate disposition. ‘But studying the origins of Sami people today shouldn’t be any different from studying the origins of other Swedish people. It would be worse if we chose to avoid the issue by not studying particular groups. Hopefully this will be a less sensitive issue in the future,’ says Jakobsson.
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In my view, private individuals should not avoid using DNA to investigate their own family history either, just because there are instances of abuse and misinterpretation. However, there are ethical problems one needs to be aware of.
The most obvious risk, as I see it, is that of unexpected and unwanted information about family relationships. I am thinking in particular here of cases where a person turns out to have a different father. Cases of mistaken paternity are not as common as is sometimes asserted; I have heard figures of up to 10 per cent, but that would hardly apply under normal circumstances. However, there are many children who have grown up with the wrong information about their father (or mother, though that happens less often). In such cases, the truth can come as a shock, not just to the person who has chosen to be tested, but to other family members as well. You need to be psychologically prepared for such situations before having a DNA test carried out. Moreover, many people looking into their family history persuade relatives to be tested, and it is even more important in such cases to think about the possibility that unexpected information might turn up.
Another theoretical issue is the possibility of information about hereditary conditions getting out. The first DNA test I ordered – carried out by the Icelandic firm deCODE – included information of that nature, though it was fairly general. deCODE has since gone bankrupt. 23andMe used to provide information both about the risk of various medical conditions and on family relationships, but the US Food and Drug Administration has since imposed limits on the medical side of their activities.
The genetic tests for family history researchers mentioned in this book are not designed to provide medical information. My personal view is that historical and medical research should be kept separate as far as possible. Tests for serious hereditary conditions should be dealt with through the professional healthcare system, not by private individuals buying tests online. But what complicates matters is that a person with the right expertise could work out a good deal of information about the risk of various medical conditions by analysing the basic data included in more detailed family history tests. So there are good reasons to be careful with your password and about confidentiality in general, and to think twice before passing on any information to others.
A third risk is that DNA data may leak out into the public domain through human curiosity. Personally, I can’t see why an outsider would want any information about my DNA. I don’t think I’m that interesting. But people have different needs as regards privacy. Many chat away cheerfully about their private lives and thoughts on social media, while others prefer to be more circumspect.
There may be situations where a DNA sequence could have gossip value. If the haplogroups of the King of Sweden were made public, the newspapers would definitely write about the subject. But the articles would probably be short. The news would blow over in a day or so. Personally, I can only see advantages. If the Bernadotte family’s Y-chromosomal DNA were public, it would put paid to shady businesses trying to peddle information about whether particular individuals are related to the king.
It is easier to foresee potential threats to groups that have been particularly vulnerable in the course of history, such as the Jews, Roma, Afro-Americans and Sami. But the fact is that DNA research into family history is often even more popular within ethnic groups that share a strong identity. There is a lively interest in the history of the group, and DNA tests can sometimes contribute information that cannot be supplied in any other way.
All DNA researchers – both the professionals and amateur researchers of family history – need to reflect on the possible ways in which their results may be misused. Professional researchers have ethics committees that lay down codes of practice governing their work. But we amateurs also have ethical responsibilities we cannot abdicate.
In my view, turning aside from genetic research – in the spirit of Trofim Lysenko – is a very poor solution. The important thing is to inform ourselves, and to try and understand what our DNA sequences can tell us.
The Tree and the Spring
Half a year after my mother’s funeral, we hold the urn placement ceremony in Botkyrka Church. It is a relaxed, low-key occasion by comparison with the funeral in Gothenburg.
It was early summer then, the lilacs were in bloom and old friends appeared unexpectedly. We sang hymns about the blossom time, about the ages to come and the generations to follow. It was a solemn, but also slightly stilted ceremony.
Only my brother and myself, with our respective partners, attend the ceremony in Botkyrka. The grandchildren are allowed to stay in school. The November weather is at its worst. Slushy sleet covers the ground. A hard wind blows out the matches when I attempt to light a candle.
Botkyrka Church is where my mother was confirmed. She told me how she used to ski over the fields from Tullinge to get to cla
sses. Having only known her as an adult, I am surprised she could ski such a long distance; it must have been almost 10 kilometres (6¼ miles). Today, the church and churchyard are squeezed in between a broad motorway and the heavily built-up suburb of Hallunda, with its blocks of flats from the housing programme of the sixties and seventies. Nearly 80 per cent of people living in Hallunda are immigrants, and I have to ask several people at the metro station before someone can tell me the way to the church.
Yet the church has been there since 1129, the time when a local peasant lad named Botvid is said to have introduced Christianity to the area after a journey to England. The story goes that Botvid was killed by a thrall whom, in accordance with his new convictions, he was just about to set free. At the place where the pall-bearers put down Botvid’s coffin, a spring burst forth, and when sick people touched the coffin they were made whole, according to the legend.
Fifty years later, the wooden church built in 1129 was replaced by a stone church. Parts of it remain, and that is where we begin the ceremony. We sit for a long while contemplating the urn, which is placed on a small table before the altar. A kindly caretaker plays a mix of classical music through the loudspeakers. Finding some of the music rather too light and bland, I request Bach instead.
Botkyrka Church is a few kilometres from the spring named after the same saint. But Sweden’s first churches were often built on ancient cult sites from pre-Christian times, at sacred springs and near sacred trees. People simply continued to visit the same sacred groves as in earlier times; they merely changed the content of their rites. In the new churches they worshipped God, Christ and the Virgin Mary, whereas at the ancient cult sites they had prayed and made offerings to other gods and supernatural beings.
When, together with the historian Peter Olausson, I visited the outdoor museum in Glava, the Värmland parish where my foremothers lived for many generations, we viewed an old drawing made when the first church at Glava was demolished. That church had been built in the twelfth century, at about the same time as Botkyrka Church. ‘Tree stump’ was written on the drawing, in front of the altar. The fact that the old church in Glava was built over a tree stump was news even to Peter Olausson, an expert in local history. But he told me about other examples of early churches in Sweden where the altar was placed on top of old trees that had been felled. The stump was built into the new shrine as a precaution. Altars were also sometimes built over an ancient spring. The new religion was superimposed on the old one.
It is common to depict your ancestry in the form of a family tree. I have simplified matters still further in this book by focusing on three straight lines of descent. My mitochondrial DNA shows I am descended from a woman who came to Europe during the Ice Age, about 40,000 years ago, a woman we can choose to call Ursula. I am also descended from a woman we can call Helena, one of the group of people that brought farming to Europe 10,000 years ago. And in all probability my forefathers, whom, for simplicity’s sake, we can call Ragnar’s descendants, came to Jutland together with a new, expansive pastoral culture, and later to Sweden in connection with the Bronze Age.
But these three lines are only a very limited part of my ancestry. I also had a maternal grandfather, for instance, although he is not included in this book. For one thing, I did not have the same emotional bonds with him, and for another I have not had the same opportunity to investigate his Y-chromosomal DNA. Yet he, too, is part of my family. The family grave in Botkyrka, where my mother’s ashes now rest, belongs to his mother’s side of the family.
Going back two generations, I have four ancestors: my maternal grandparents on the one side and my paternal grandparents on the other. Each had two parents, so if I go back a further generation I can count eight ancestors. After that, the numbers are 16, 32, 64, 128, 256, and so on. In many cases, my forebears had children together, which complicates the mathematics. Which individuals, out of all these forefathers and foremothers, passed on their genes and their traits to me is a matter of chance.
That is why the tree gives an incomplete picture of our history. It can only show a single individual’s ancestry over a few generations; after that, there are not enough branches and roots on the tree.
As for the history of the population as a whole, the tree image is also too simple and inaccurate. People have migrated in all sorts of directions in the course of history. Europe, for example, received at least three major waves of immigration in prehistoric times, as well as many other smaller ones. The migrants came on foot from the south and the east, they paddled along rivers and the coastline, and they travelled by ox-drawn wagon and on horseback.
The genealogical tree also gives an incomplete picture when it comes to a biologist’s description of evolution. Species do not evolve as directly or as neatly as the branches of a tree would suggest. There are floods of genes that complicate the picture – such as when anatomically modern people in the Middle East had children with Neanderthals 54,000 years ago. This injected a small lateral dose of DNA and genes into the genetic material of modern humans, and the traces can be seen in our DNA to this day.
To describe our origins in a biologically accurate fashion, the image of the tree needs to be complemented by that of the spring. Water flows out of the spring, an amorphous stream running in different directions. Our DNA and our genes disperse in an analogous way. One of ‘Ursula’s daughters’ was my foremother, belonging to haplogroup U5b1b1, the woman who lived some 15,000 years ago at the end of the Ice Age, probably in part of Spain. Some of this woman’s modern-day descendants live among the Sami of northern Scandinavia, while others are to be found among the Berbers of the Atlas Mountains, in North Africa.
Everyone in the world is descended from a woman we can call Eve. This woman lived in Africa about 200,000 years ago. As descendants of Eve, we bear largely identical DNA. We are differentiated only by tiny variations. These tiny variations tell the story of how our forebears once went forth to people the earth. The mutations show how we migrated in all directions from Africa. My family – like everyone’s – can be compared to a great tree with many branches. But we are like water too. Our heredity both diverges and converges – as in the wellspring of life and humanity.
Questions and Answers about DNA
Which company and product should I choose for a DNA test?
That depends on what you want to know and how much you are prepared to pay. Firms come and go, and their product ranges change. Two commercial firms that have specialised in genealogy research and individual historical origins are Family Tree DNA and 23andMe. National Geographic sells DNA tests focusing on individual historical origins.
There are many reliable websites that provide up-to-date information for people interested in buying their first test. One of them is run by SSGG, a non-commercial network of Swedish genealogy researchers working with DNA, of which I am a member. Its international counterpart is the International Society of Genetic Genealogy, ISOGG.
How does a test for a private individual work?
Usually, you’ll order a test kit online from one of the firms mentioned above. Follow the accompanying written instructions to collect a small DNA sample; this may involve taking a swab from the inside of your cheek using a plastic spatula, or spitting into a test tube. Then send your sample off to the test firm. A few weeks later, you will receive a response online, which will contain some basic information. It may often be a good idea to approach experts who can provide further details, such as project administrators linked with the firm but working on a non-profit basis, or – if the test is particularly sophisticated – other firms that are specialised in interpreting DNA data. One such is YFull, based in Russia.
Who should I have tested first?
That depends on what you want to know. But one practical principle when using DNA as a tool for researching your family history is to have the oldest individual in a particular line tested before it’s too late.
What is DNA?
The acronym stands for deoxyribon
ucleic acid, a chemical present in nearly all our cells that passes on our biological traits. The DNA molecule comprises four units known as nucleobases. These are called adenine, guanine, cytosine and thymine, and are normally shortened to A, G, C and T. One individual’s genetic material comprises over three billion As, Gs, Cs and Ts. Just a few nucleobases in every thousand differ between one randomly selected individual and another, the rest being identical. Although the variations are so small, they can provide a great deal of information about an individual’s origins and genealogical relationships.
What are genes?
Genes are specific components of our DNA that code for hereditary characteristics. They account for no more than a tiny percentage of the whole DNA molecule. The rest of our DNA serves a regulatory purpose, has an unknown function, or is simply ‘in-between DNA’. It is more important to keep sequences from within the genes confidential, as they can reveal information about the risk of particular medical conditions and other sensitive matters. It is advisable not to let out such information in public. However, it may be a good idea to let project administrators and other experts you may choose to consult know the whole sequence, including the parts that code for information. This may enable you to obtain better information about genealogical relationships.
What are mitochondria?
Mitochondria are tiny structures within cells but outside the cell nucleus that contain small amounts of their own DNA. We inherit our mitochondria solely from our mothers. It is simpler and cheaper to test mitochondrial DNA than other DNA, as we have large numbers of mitochondria in every cell. The downside, however, is that they contain a very small proportion of our total DNA – only about 16,000 nucleobases, compared with the three billion nucleobases in the cell nucleus. One of their advantages is that mitochondria are passed on unchanged from mother to child for many generations. This means they can be used to trace a person’s maternal lineage a long way back in time.