Genomes are the building blocks of biology. A British scientist told their importance

AApril 2023 marks 20 years since the Human Genome Project completed the sequencing of the human genome for the first time, almost completely.

It took 13 years and was a global collaborative effort that cost nearly $3 billion and involved researchers from 20 universities and research centers in the US, UK, France, Germany, Japan and China. Together these groups came to be known as International Human Genome Sequencing Consortium,

A genome – the ‘book of life’ – is the complete set of genetic information about an individual or organism. Mapping an individual’s DNA could help scientists study the gene mutations that cause diseases, including cancer, and could allow doctors in the future to prescribe personalized precision medicine.

Magdalena Skipper is a geneticist and editor-in-chief of Nature, the scientific journal that published the draft human genome sequence in 2001.

Here, she explains what the project has taught us about ourselves and how it has advanced our understanding of genetics over the past two decades.

The simplest way to explain it is to think of it as a set of instructions for building a certain biological entity. These instructions are open to interpretation, meaning that a genome does not exist in a vacuum – it exists in the context of an environment. Let’s compare this with different people reading the poem. A poem is written in a certain way, made up of syllables and words. But if you find different people reading that poem, it can stir different emotions and have different dynamics.

In my analogy, the different people reading it would be the different environmental conditions in which Genome’s poem is read. The genome is a set of instructions, and of course it is made up of genes. But there’s more to a genome than just genes. There are instructions on how to read those genes and many other elements, incidentally, that we are continuing to explore and understand its full meaning and full functionality.

The sequencing of the human genome happened about 20 years ago, and was a truly collaborative international effort. Genome sequencing has become very easy today. It has now been applied in the context of the clinic, in the context of understanding the complexity of human populations, in the context of understanding our history.

So genomics combined with the medical profession, with paleontology, with archeology, gives us insight into other disciplines that we really could never reach without that particular contribution. It is not only information about disease susceptibility or the nature of the disease, but also information about the most effective treatment that an individual or a specific population is likely to respond well to, or have virtually no adverse effects. Is.

We intuitively understand aspects of genetics. We all have relatives, parents, maybe children, brothers and sisters. We know that we are similar to our family members and different from others and of course the reason lies in our genes, the fact that we share our genetic information with our family members. And yet it is a discipline that is often misunderstood, for example, under the guise of genetic determinism,

It is fascinating to see that with the availability of the human genome and this genomic information for other organisms, we have begun to chart the map that defines us as a biological entity and the other biological entities around us. It is fascinating that in the more than two decades since the first human genome was sequenced, we have learned so much about ourselves and about that ‘book of life’, as it is sometimes referred to.

The more we learn from this, the more we realize that this issue is extremely complex. Our genetics are exposed to the context of the environment, and it is the interaction between our genetics and our environment that is incredibly complex. For example, whether we develop certain diseases, let’s say certain types of cancer, is really a combination of our genetics, but also our environmental exposures, our habits, what we eat, how we behave. , what we drink, and what potentially hazardous materials we ingest.

Today we think of genome engineering as a future possibility rather than a current reality, however, in the context of medicine. Many of today’s drugs are already influenced by our understanding of genetics and genomics, both in terms of disease and drug susceptibility. Depending on one’s genetic background, different drugs may be prescribed for a specific disease over a different period of time. We also understand a great deal about how genetics intertwine with our genetic ancestry. So we know that some drugs work in some populations but not others, and that knowledge comes from our understanding of genetics.

Today we understand a lot about our genome. We understand genetic susceptibility. We know of mutations within our genome that can cause certain types of diseases, or indeed respond or respond to certain drug treatments.

Plus, there’s a lot we don’t understand yet. Genetics can be incredibly complex traits such as, for example, body mass or height or heart disease. There are many different elements in the genome that collectively contribute to how tall someone is or how likely they are to develop a heart condition.

We understand quite a bit about how different elements in the genome interact to bring about a certain outcome in an individual. What we are very little good at understanding, because of the degree of complexity of the problem, is how the genetic component works against the environment, if you will.

In some cases it’s a little easier than in others. Take the example of height: It should come as no surprise that in addition to a genetic component to height, it would have a significant nutritional component. If one is malnourished, he is not likely to reach his full potential to reach the height that he could have otherwise. But other examples are more complex than that.