Importance of Diversity in Genetic Research

Our knowledge of the human genome has improved incredibly over the past 50 years, yet we are only in the early stages of this exciting journey of discovery. Ongoing research in the field of genetics has deepened our understanding of biology more than any other endeavour in history.

We now know, for example, that on average a person’s DNA is 99.5% similar to someone else’s. The fact that an average of 0.5% difference can be responsible for all the variety we see in humans across the world gives you an idea of just how powerful and intricate the field of genetics is.

Consider, for a moment, the sheer size of the human genome. An estimated 20,000 genes that are comprised of a total of 3 billion nucleotides — that’s 3 billion potential chemical locations for variation. This sheer complexity is responsible for the time it has taken to arrive at our current level of understanding, and while we may only need to isolate 0.5% of these positions to illuminate the genetic differences between people, a huge research effort is required to properly understand even that oh-so-important slice.

In the pursuit of this research, one of the major challenges is replicating studies in diverse groups of people, to ensure the resultant data is applicable to a wide range of people, rather than an isolated demographic.

For example, in biological studies of humans, it is common to have the study cohort entirely comprised of men, rather than a mix of men and women, or just women alone. Men are favoured because they lack a hormonal cycle, so by removing the variable of hormonal fluctuation, researchers can be more clear about what specifically is causing the study outcome. The side effect of this simplification, however, is that the validity of the results when applied to women can be called into question.

Social and cultural factors have also heavily influenced the data in the field so far. Even 10 years ago, genotyping human DNA was a prohibitively expensive process, only being carried out by well-funded research institutions in rich countries. This has created somewhat of a historical bias in the data, whereby western nations have mostly gathered data on their own citizens. Therefore, many pieces of research need to be replicated in non-Caucasian cohorts. In medical science, increasing the diversity of cohorts that make up the datasets will provide information that is far more widespread in its utility, particularly as evidence comes to light that some ethnic groups respond differently to certain medications than others.

A population wide-database for countries across the globe would give scientist access to huge analytical power for identifying the effect of genetics on disease across different populations. Homogenous populations, such as Ashkenazi Jews, can also be useful as they can help researchers to compare the prevalence of certain genes and diseases with other population groups.

The area of the world that is most under-represented in the research is Africa. For most of human history, Africa was only place on earth inhabited by people. As a result, it has by far the most genetically diverse populations on the planet, and as all other civilisations can ultimately trace their lineage to Africa, it likely holds the most valuable keys for unlocking the information hidden in our genes. It is therefore essential that research efforts on African cohorts are greatly increased.

Consumer genetics companies would love to have the luxury of a huge scientific database to delve into for providing insight to customers, but responsible companies are currently limited by the amount of peer-reviewed research available. Businesses that are built around the use of genetic science have a responsibility to drive the field of study forwards, and could and should contribute to research by gathering comprehensive and widespread datasets.

Through collaborative, worldwide efforts, the 21st century can be the era where the true power of the human genome is unlocked, with benefits more widespread than we can currently conceive. It will be a long process with many hurdles, but attaining this wealth of knowledge will allow us to tap into the promise that we all hope genetics holds. And here at DNAFit we are extremely excited to be a part of it.