THE BLOG

2017 Is The Year of the Personalised Genome in South Africa

'The Rainbow Nation' can bring a wealth of sample diversity into genetic research, helping us better understand where we come from, and where we're headed.

02/01/2017 04:59 SAST | Updated 02/01/2017 04:59 SAST
Danita Delimont

What we know about the human genome is vast, but there's still an exceptional amount of research to be done before we fully understand the intricacies of it, and even then we will more than likely not fully understand why we are the way we are, as people and individuals.

Throughout the evolutionary history of the world we have seen how genes and the environment interact to create our own unique phenotype and our existence is based on survival through natural and artificial selection. We also know that the origins of all humans can be traced back to southern Africa, with hominid fossils over 3.5 million years ago. The journal "Nature" furthers its studies to indicate that people began to populate the globe some 50,000 years ago.

But what we know is also limited due to a disparity in genetic research on women and non-European ancestries. Research regarding genetics has largely been done on people of European Caucasian origin, a factor that has recently sparked controversy due to consumer genetics tests being criticised as potentially providing misinformation on gene mutations regarding the genetic factors associated with diseases such as cancer, heart disease and type-II diabetes.

More genetic diversity will provide more information about predisposition of disease through analysis of genetic mutations in a larger variety of humans. It is also important to study ethnic groups who are affected worse by certain conditions like, for instance, diabetes to increase likelihood of finding a disease gene or knowing how best to treat the condition. The problem is that some ethnic groups respond to different medications than others. Dr Esteban Burchard, in his studies, claims that ethnicity and gender could potentially be the most important factors when it comes to treating disease with genetic research.

There is an underrepresentation of various human populations and those that are represented are described too generally. For example, Africans and Asians are among the most genetically diverse populations and yet genetic tests struggle to describe them as such due to lack of research.

Your current geography and overall living conditions play a big role in determining if you will be a victim of disease. This is the time to bring forth a new era where genetics have the power to solve the world's health problems efficiently and according to individual needs or the needs to socially stratified groups. It will still be a long, hard struggle but attaining this wealth of knowledge will make the possibilities of genetics in the future endless and nothing like what we could have imagined.

What is clear is that there is an underrepresentation of various human populations and those that are represented are described too generally. For example, Africans and Asians are among the most genetically diverse populations and yet genetic tests struggle to describe them as such due to lack of research. Therefore, Africa, and South Africa with its 'Cradle of Humankind' in Maropeng, are exciting as populations are genetically diverse. It is said that to solve a problem it is best to start by the source, and in the case of the human genome the source is Africa.

Genetic diversity insights also come from consumer genetics. The more diversity there is in users, the more focused recommendations can become. This is why establishing such a company in South Africa and gaining knowledge from the learned results is so important for the future of personalised health and gaining knowledge about people's ancestry.

The complete picture of the human genome needs to be filled in and this is why 2017 should be seen as the Year of the Personalised Genome for South Africa. What is considered as the developed world has already embraced genetics as a crucial science to understanding everything from disease to ancestral origins, but to justify findings even further a sequence of Africans is important to have. South Africa has potential to lead this charge as we are considered as 'The Rainbow Nation'. This concept is linked to the diversity in populations and cultures within South Africa. And we have a starting point with the Khoisan being among the original indigenous populations of the world.

A 2010 study showed that as little as five genomes in southern Africa introduced 1.2 million new SNPs, which determine uniqueness in individuals, into the global database. If only five genomes can bring another 1.2 million into the mix, then a full sequence of the populations of South Africa could lead to unparalleled discoveries.

What you may not know is that South Africa already has its very own Human Genome Project, due to many scientists believing that all life came from this region that we live in. The South African Human Genome Project expresses a desire for all South Africans to partake in the study, for local and global benefit. Although, if the world is still focused on European populations then why should we wait? We should do it ourselves.

To show how important it could be for the southern African region to be genetically sequenced, a 2010 study showed that as little as five genomes in southern Africa introduced 1.2 million new SNPs, which determine uniqueness in individuals, into the global database. If only five genomes can bring another 1.2 million into the mix, then a full sequence of the populations of South Africa could lead to unparalleled discoveries. This is largely to do with, for example, unique ethnic populations such as coloureds, who have diverse ancestry. As the rest of the world becomes more interspersed, research into this type of ancestry could help us understand what this means for the future of the world.

More importantly, HIV/AIDS has decimated the region. A further understanding of genetics and how people react differently to the disease could, in time, lead to an eventual cure being discovered, which would save countless lives that are unnecessarily lost.

It is a big job, no one is discounting that, but as the world moves away from ineffective one-size-fits-all approaches, genetics is one science that serves to aid a future where the individual is put at the forefront. Our mission for 2017 is to take South Africa's science to the next level, to position ourselves at the forefront of diversifying genetics from the African perspective, providing clues for the future of what we know and how to improve our lives with this knowledge.