The human genome contains hundreds of millions of DNA variations, not all of which have a clear role in health and disease. For medical research, it is important to be able to distinguish “normal” DNA variations from variations that are related to a hereditary predisposition to a disease. That is why the first step is to build a “reference” database of genomes, derived from groups of individuals who are representative of the general population. In future, the genomes of individuals with specific diseases can be compared against this reference dataset, so that we can better identify and understand the genetic variations causing disease.

As well as considering disease, we know that there are genetic differences between population groups in Europe, which are caused by, among other things, descent and migration. Many of these variations play a role in health and are therefore relevant to medical research. For example, some population groups are more prone to lactose intolerance (allergy to dairy products), whilst others are more predisposed to certain hereditary diseases, such as sickle cell disease or type II diabetes. That’s why the Genome of Europe dataset will ensure that ancestral subpopulations within participating countries are proportionally represented in the database, giving an accurate reflection of diversity among European citizens.

This approach will improve our understanding of how disease risk presents itself in different ancestral backgrounds, whilst also ensuring the inclusion of historically underrepresented populations in future clinical studies.