Of every 100 base pairs in the human genome, 99 are in identical positions in all human beings. Nevertheless, people are incredibly different. We get sick from different things and need different types of medicine to get healthy. Taking us on a personal journey through our genes, Lone Frank, science correspondent, and Bogi Eliasen, former Project Manager of the Faroe Genome Project FarGen, explain why we need to share genetic data with each other to understand our own genes.
Knowledge about one’s own genes may soon be available to virtually anyone. The price of sequencing a person’s genome has plummeted to DKK 7000–8000. This can provide knowledge about the personal DNA cookbook used to create our body’s molecules and chemicals. To give an idea of why this information is important for us as individuals, two first-hand witnesses, Lone Frank, science correspondent, and Bogi Eliasen from the Copenhagen Institute for Future Studies, took the public on a journey into their own genomes at this year’s Heartland Festival at Egeskov Castle in Denmark.
For Lone Frank, losing both her mother and grandmother to breast cancer was a very specific reason for wanting to find out about her own genome.
“They both got breast cancer when they were young – and both died from it at a young age. In fact, younger than I am now. So that indicates that there could easily be a genetic risk. We may know someone that has BRCA genes, and we know that, if these mutate, there is a 60–80% risk of developing either breast or ovarian cancer. This is something I have thought about. I might have these genes,” explains Lone Frank.
Fortunately, genome sequencing showed that Lone Frank did not have an increased risk of breast cancer. Bogi Eliasen had his genome sequenced when he was the project manager of the Faroe Genome Project (FarGen). For him, the personal benefits may have been less significant but were still important for his daily life.
“For many years I went to bed at 22:00 and got up at 4:00. I never understood why I was so wide awake at 4:00. I learned that I am very sensitive to coffee. I break down caffeine very slowly. At that time, I was drinking 2–3 jugs of coffee a day and, although I drank them during the day, the effect did not register until 4:00 in the morning. I have now adjusted my coffee intake, and everything is markedly better,” explains Bogi Eliasen.
Confirming your suspicions
One of the tangible results people get when their genes are sequenced is an overview of the genetic risks for various diseases. However, before people receive the results, they must decide whether they want to know whether they have a higher risk of developing cancer or diabetes.
“This is the modern consumer version of informed consent. Are you sure that you want to receive this information about your genome? Click ‘yes’ or ‘no’. So you sit there and go through one disease after another. The fun part is that you actually already suspect what the problems have been. Unless we are adopted, we know our family history. What did family members die from and what illnesses did they have? You are nervous about all these things when you have to sit down and click,” explains Lone Frank.
Unfortunately, few people have had their genome sequenced so far. Because an individual’s risk for a specific disease is currently assessed based on statistical analysis of known sequenced genomes, knowledge about the effect of specific genetic mutations is still uncertain. One person’s calculated risk and other numbers can therefore change over time as more people have their genes sequenced. Nevertheless, the information can be used in many contexts.
“We will be able to benefit from some things, such as the Million Veteran Program in the United States, which has taken 1 million war veterans and tried to determine whether there is a link between genes and who gets post-traumatic stress disorder: those who cannot cope going into battle. If we can screen for this, should we send people who we know cannot cope into a war zone?” says Bogi Eliasen.
Tailor-made treatment in the future
Genetic data may also strongly influence treatment in the future. Research has shown that about 60% of the medicines people take today do not work properly. This is a serious problem in treating such diseases as cancer if people start chemotherapy that does not fit their genetic profile, because the cancer can develop further before the treatment is changed and because chemotherapy can have very damaging effects for some people.
“I could have examined the data years ago and found out that, of all the antidepressants I might have been prescribed, only one worked well, and plenty did not work. So I was lucky that the one that worked well was the one I had already been prescribed. That was very fortunate. But imagine how many people out there go around saying: ‘Antidepressant medicine does not work; I know because I have tried it.’ Yes, but that is because you were prescribed the wrong one,” emphasizes Lone Frank.
Unfortunately, according to Lone Frank, health systems lack knowledge on genetic data. She hopes that, in the future, when people go to their general practitioners, they can swipe your health insurance card through a reader and then get access to the genetic data, which they can hopefully use.
“There are plenty of benefits to taking a few genetic tests in relation to many types of medicine. This is precisely why the otherwise very conservative United States health authorities require labels on more than 100 types of medicine clearly stating that a genetic test should be performed before it is prescribed to inform the potential user about the correct dosage and side-effects. Do the doctors do this? Yes, but perhaps only about 2% of them,” explains Lone Frank.
The collective genome
Nevertheless, the quality of the ever-increasing knowledge about the importance of genetics for preventing disease totally depends on the amount of genetic information and how it is linked to the risks of disease. The more people who have their genes sequenced, the more these data can be linked to other biological data and, as a result, the more knowledge will accumulate.
“Your personal genetic data is only meaningful if it can be linked to the collective data. Individual data have no meaning on their own. So if you are unwilling to participate in the social game in which you exchange experience, then not much will result from the process. What spurs me on here is that genetics will become our backbone,” says Bogi Eliasen.
Several countries have also started genome-sequencing projects to map the diseases to which the residents of each country are really susceptible genetically. This will enable the national health efforts to be targeted and especially pharmaceutical treatment to be tailored to each individual. The Faroe Islands, Iceland, the United Kingdom and the United States have already launched major projects. Denmark only has a national strategy for now. And as long as the genetic data cannot be shared, they do not have much value.
“My genomic data are stored at an institution in Germany, at University Medical Center Utrecht in the Netherlands and at the Faroe Islands state system. If anything happens to me now and someone needs to examine my genes, nobody can obtain access. Before that can be done, the data cannot be used for anything, and personalized medicine cannot be activated by these means,” explains Bogi Eliasen.
One reason why many people hesitate to share genetic data is undoubtedly that they fear that the data will be used for eugenic purposes. Hasidic orthodox Jewish communities in the United States are already practicing eugenics internally. They are doing this to eliminate several serious genetically determined nervous system disorders such as Gaucher’s disease that have plagued these communities.
“These diseases only arise if a person inherits the relevant gene from both their father and mother. In this situation, the child becomes ill, is very developmentally disabled and dies at 4 years old. The genes can be eradicated from the population by matching the parents to ensure that they do not carry the same serious genetic mutation. It is also possible to simply make a test-tube baby, in which the eggs chosen only carry the mutation but do not necessarily develop the disease. This is definitely pretty radical,” confirms Lone Frank.
Qatar faces similar problems because of frequent inbreeding as a result of marriages between cousins. Further, the way of living in Qatar has changed radically in the past 20–25 years after the country became affluent. This has resulted in an extreme disease pattern. Bogi Eliasen has advised Qatar based on his experience with the FarGen project.
“People are no longer exercising because they can buy large cars. They are also indoors more often and therefore do not get enough sunshine and vitamin D. This was one factor motivating them to start their national genome project. Residents of Qatar therefore undergo a 4-hour health examination comprising both a genome test and blood tests. This informs people and enables them to have several options they can work with,” explains Bogi Eliasen.
Killing off Superman
Today, some sperm banks in the United States already use genetic data. Women can bring their genetic data and choose men who will fit precisely their genome, and then a test-tube baby is made. Lone Frank believes, however, that we should not be concerned that this trend will develop into a struggle to create superhumans.
“None of us has a perfect genome. None of us. Each one is full of mutations and is simply different. There is always a balance. Some things are good and some things are poor. There is no reason to say that we should all a specific type of genome because this would be good. No, it is actually really good that people have different genomes because contexts change and some will fit better in the new context than others,” explains Lone Frank.
According to Lone Frank, sperm banks can thus be used to “pair someone with another person who does not have the same mutations”. This is the way to avoid disease. Bogi Eliasen does not fear either that the genetic data can or will be misused.
“The whole idea of having a society is that we are different. So what we need to do is kill off Superman. We must eliminate any efforts to achieve Superman because diversity is really what moves society forward. I believe that genetic data have much to offer because we understand better how we react to things. And what I really like is that the genetic data reveal our differences, and we can respect that,” says Bogi Eliasen.
Life is still a lottery
According to Lone Frank and Bogi Eliasen, possibly the most important reason why people should not fear using genetic data is that all research shows that genes can only answer some of the questions about how our lives will develop.
“At present, many people think that these genetic data are kind of dangerous because they are like looking into a type of crystal ball. We can predict when we will die. This is nonsense, because people can already see from biology that random chance is what counts most. In many ways, life is still a lottery, and we will never be able to totally control where we will end up and whether we will get ill or not,” explains Lone Frank.
Lone Frank believes instead that we should consider our genome as a biological starting-point that enables us to suddenly understand things about ourselves. If you previously speculated about whether something arose from your upbringing or whether you were born with it, then genes can provide some answers. Like a car, which people previously could only observe from the outside and decide that it had broken down without knowing why.
“Now we actually lift the hood and say: ‘Ah, yes, that is what is wrong.’ And you can begin to put things in place. It also means that you can learn how much you have inherited from your parents and that it was not that they did not spend the time to bake spelt bread that made the difference. They passed on their genes, and they could not really help the rest. People can let go of such ideas as ‘It was my parents’ fault.’ People inherit genes, and that is it. You have to live your own life. Make something out of it for yourself ,” says Lone Frank.
Today, psychology shows that parents’ childrearing has almost no effect on a child’s basic psychology and personality, unless there is abuse. Lone Frank’s personal genetic knowledge has taught her to become less depressive, less furious and less temperamental. Every time she starts down these paths, she says to herself instead that this is just something biological that is happening, and she then tries to react based on that.
Bogi Eliasen also believes that, although genes are an important piece of the puzzle, there is much more:
“It will never be the full picture. So if we think about the genetic results purely in genetic terms, I doubt that we will achieve the full potential value, and thinking a step further is therefore very important. Genetic data can predict some risks, what may happen and how you are constructed. However, the data cannot predict why a person becomes sick or when he or she will become sick. We can examine other biological things, and behaviour is really important,” concludes Bogi Eliasen.
The Novo Nordisk Foundation supported Future Talks at Heartland Festival 2017, where Lone Frank and Bogi Eliasen debated “Genes and personal health”. Lone Frank is a science journalist of Weekendavisen. She is an author and has a PhD in neurobiology. Bogi Eliasen is an Associated Partner of the Copenhagen Institute for Future Studies. From 2009 to 2013 he was Project Manager of the Faroe Genome Project (FarGen), which aims to sequence the genome of all residents of the Faroe Islands. He is still associated with FarGen.