Last Updated 1 year by Lukas
Much like computers, which run on instructions and code. There is a code that runs our cells and our bodies. It’s called DNA, and it can affect many things, from the way we look, to our ability to develop strength or endurance, to our resilience or likelihood of developing a disease. What if there was a way to read this code and learn a lot about ourselves? And what if we could use that knowledge to improve the health of our lives?
Introduction
A little of history
Did you know that it took mankind 32 years to fully sequence the human genome (DNA)? It all started with the Human Genome Project in 1990 and was completed in 2003. By then, we had sequenced 92% of human DNA. The sequencing of the remaining 8% took another 19 years from 2003 and completed in 2022. Thanks to this amazing and huge project, we can now sequence human DNA in parallel in one day. Isn’t it amazing what we can do now?
What is DNA?
Deoxyribonucleic acid is the molecule that carries the genetic information for the development and functioning of an organism. DNA is made up of two strands that wrap around each other to form a shape known as a double helix. The sequence of bases along the backbone of DNA encodes biological information, such as the instructions for making a protein or RNA molecule.
It makes each of us who we are. In fact, the DNA of any two people is 99.9% identical, with this common blueprint guiding our development and forming a common thread across the world. The different 0.1% contains variations that influence our uniqueness and, combined with our environmental and social contexts, give us our skills, our health, our behaviour.
We have sequenced full human DNA and so what?
With the knowledge of the entire human genome, the use of big data, powerful computers and AI. We can now find patterns and relationships within DNA. We can connect these facts and create predictive models to help people improve their health. Imagine being able to know in advance that you are at risk of developing high blood pressure, so you can take proactive steps to prevent it. Ultimately, it can help us all live longer and better lives.
Genetics
It is the study of genes, genetic variation and inheritance in organisms. It is an important branch of biology because heredity is crucial to the evolution of organisms. Gregor Mendel, a Moravian Augustinian monk working in Brno (a city in the Czech Republic) in the 19th century, was the first to study genetics scientifically. Mendel studied ‘heredity’, the patterns in the way traits are passed from parents to offspring over time. He observed that organisms (pea plants) inherit traits in discrete ‘units of inheritance’. This term, still used today, is a somewhat ambiguous definition of what is called a gene.
Epigenetics
In biology, epigenetics is the study of stable changes in cell function (known as marks) that do not involve changes in DNA sequence The Greek prefix epi- (ἐπι- “over, outside, around”) in epigenetics implies traits that are “on top of” or “in addition to” the traditional genetic basis of inheritance. Epigenetics most commonly refers to changes that affect the regulation of gene expression and that persist through cell division.
For more information you can see these videos inside YouTube.
Can we use this knowledge to benefit us?
Today, we can sequence the entire human DNA in a day. Using AI, big data and machine learning. We can find patterns in DNA that correlate with human health records. This means we can calculate probabilities for traits in people. And based on that, we can change our behaviour to get better results.
Have you ever wondered why you feel so tired in the morning? Maybe it’s because of your chronotype and you’re not getting your sleep/wake cycle right. Your DNA already knows and so can you.
You try to do strength training, but the results are average. Maybe you are more of an endurance type and that is where you can make the biggest gains. Yes, you guessed it, your DNA knows.
And what about the risk of developing diabetes, high blood pressure and so on, and taking preventive measures now? Again, the answer is your DNA.
How can we learn about our DNA?
Extraction and sequencing
The process of translating DNA into a format that humans can understand is called ‘DNA sequencing’. First, your DNA needs to be isolated from blood, saliva… . Once your DNA is isolated, it can be sequenced and transcribed into four bases (nucleotides). They are (A)denine, (C)ytosine, (G)uanine, (T)hymine. Because DNA is helical, these bases combine with each other. Adenine binds with thymine and cytosine with guanine.
Big data analysis with help of AI and machine learning
There are a few exceptions where a single gene significantly increases the chance of developing a disease. In general, all genes are small chips in the final probability of some trait or chance of development. This means we need to collect a lot of data correlated with health records and let ML/AI crunch them. Such process can create for us predictive model which based on provided sequence of someone’s DNA can predict what is the probability of trait or chance of developing some disease. Of course, the model can only assign probabilities to the traits it has been trained on.
Is it possible in Czech Republic to get your DNA sequenced?
Yes, it’s possible. I’m currently aware of these companies in the Czech Republic that offer DNA sampling and analysis for sale. They are DNA ERA (Slovak startup) and GHC genetics (Czech Republic, USA). They were founded in 2017 and 2007 respectively. In general, it’s wise to choose a company that has already sampled a lot of people from your immediate environment. If the predictive model is trained on European data, it will give better results for European people than, for example, models trained in Asia.
It’s also very important to mention that your DNA is a very sensitive piece of information that you want to protect. Because it’s not going to change over the course of your life, unless you are exposed to high doses of radiation or gene therapy. But these are extreme cases.
Conclusions
What is it all for? DNA sampling does not exempt us from regular health checks, but it does make them more efficient. Imagine a situation where you feel regularly tired, you have no idea what it could be, your GP has no idea what it could be and you have already tried many approaches.
If you have your DNA sampled as an output, you will get probabilities of traits you have or chances of developing some diseases. Let’s say you find out from your DNA that you might be lactose intolerant. You visit your GP, let him take your blood sample for inflammation markes (our body attacking lactose) and simultaneously the lactose intolerance test is done on your blood sample. In simple terms, this will give you a set of concrete indications to check.
But that is not all. It can also tell you what your chronotype is (how you should sleep and wake up). It can tell you if you get the most growth during strength or endurance training and so on. Of course, it’s still a model that makes assumptions as close to reality as it can, so it can make mistakes.
To make things even more interesting, there is something called epigenetics. It’s being studied rapidly these days. Put very simply, it can influence your genes to express themselves, or it can suppress their expression. In other words, you may find that you have a ‘scary’ gene, but because you live a healthy life and exercise. It’s expression may be suppressed thanks to the workings of epigenetics.
What about you, are you going to take a look at your DNA?