Simple guide to the science

The project is called 'Beyond 1 Million Genomes', but what is a 'genome'?

A genome is the collection of all the DNA in our body. DNA is in every cell of our body and is the blueprint for how our body develops and functions. It is a chemical structure made from long strings of smaller molecules called nucleotides.

A gene is a small sequence of these nucleotides that performs a particular function. Usually the function of a gene is to synthesise proteins, which help build and maintain the body.

Sometimes the effect of a gene is obvious. You can have a gene for blue eyes, for example, or for brown hair. But sometimes the effect is less obvious. The gene may encode a protein whose effect may depend on environmental factors, or on the presence of other genes. For example, a particular protein may cause a slight change in your body that gives you a higher risk of developing schizophrenia, but only under certain environmental conditions.

Genotype and phenotype

These are words you'll see a lot in this project. Your genotype is all the genes that you have inherited from your parents. Your phenotype is all the observable traits about you. This could be your physical form (like your weight and height), your physiology, or your behaviour.

Your phenotype is a result of your genes plus environmental conditions. To understand a disease better and how we can treat it, it helps to have both genotypic and phenotypic information about the patient.

Linking the genotype (gene sequence) and phenotype data from the same person makes it possible to study these types of data together.

Personalised medicine

'Personalised medicine' is when a patient's diagnosis and treatment is based on their specific characteristics, like their age, gender, weight and medical history. This is in contrast to a 'once size fits all' approach to medicine, where each patient is given a standard treatment, and their individual characteristics have less influence on their management and care.

In recent years, 'personalised medicine' has also come to include using a patient's linked genotype and phenotype data to decide the best diagnosis and treatment for their illness. The doctor can see if a patient has genes associated with an increased risk of cancer or diabetes, for example, and suggest lifestyle changes accordingly. They can also see what genetic mutations are in a patient's cancer, and give treatment targeted to these mutations.

Although this approach to medicine is desirable, it is also fraught with ethical, legal and security issues. In personalised medicine, not only is a patient's genotype and phenotype data linked, but also their treatment data such as scans and the results of blood samples. This is highly sensitive and private data, so great care needs to be taken that the data is stored securely and used ethically and legally.

So what's the B1MG project doing again?

The B1MG Project is developing ways for researchers and clinicians to access genotype and phenotype data from around Europe. It is developing the technical means to do this, but also the legal mechanism, and ethical best practices for doing so.

Some countries have already set up ways to share this information within their country, but the B1MG Project aims to extend this and make it possible to allow access to the data across borders. This will allow for a huge amount of data to become available to researchers and clinicians, and enable them to get a better understanding of rare diseases and variations of more common diseases such as cancer. It will lead to the more widespread practice of personalised medicine, and to more innovative and effective healthcare.

If you are not familiar with terms used in European research projects, you might want to scan the Glossary page next.

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