From human genome to global genome – why diversity matters for precision medicine
January 19, 2019
Precision health
To benefit everyone, precision medicine needs to be based on diverse biodata. Image via Pexels CC0

The release of the first draft sequence of the Human Genome in 2001 was an historic milestone for mankind. For scientists and physicians, this event marked the start of the genetic revolution – we would finally understand the underlying causes of a wide range of conditions, from diabetes and heart disease to cancers and rare genetic syndromes.

Armed with this knowledge, it would be possible to develop drugs to specifically target them, while reducing the risk of unwanted side effects. We would even be able to use genetic information to predict which people were more at risk of developing specific conditions and ward off many ailments ahead of time.

This led to the concept of precision, or personalised medicine: the right drug, for the right patient, at the right time and in the right dose, based on genetic analysis. This was a phenomenal promise for humanity. No longer would people be subjected to a generic approach in healthcare but would receive treatment tailored specifically for us – irrespective of who we were, our race, our social status or our wealth. It would mean humans not only living longer, but leading healthier, more productive lives.

Fast forward to 2018, and although huge leaps in our knowledge and understanding of genomics continue to be made, there is an underlying flaw in this theory. It is such a fundamental weakness that it prevents us from bringing the benefits of this new medicine to the majority of the world’s population.

The problem is as simple as it is stark: a serious bias towards European ancestry populations in current genetic databases means the reference human genome is not representative of global human diversity.

Nearly 80% of the genetic datasets used to inform the development and use of precision therapies are from people of European ancestry, with less than 5% of data accounting for more than 60% of the world’s population. African ancestry in particular is far more diverse than Western populations. As a recent article stated, “it’s like comparing two copies of a book to look for typos and realizing whole pages are missing from one.”

Woman and globe
The human genome is a global genome – genetic roots underpin health

Many studies published this year are showing just how much of a difference there can be between population groups. This poses a major problem for pharmaceutical companies and physicians wishing to bring precision medicine to the majority of the world’s population – not just those with European heritage but for anyone, anywhere, such as the 31 million-strong global Indian diaspora or the 38 million black African Americans in the US.

For example, specific genetic alterations have been shown to be associated with an increased risk of multiple myeloma in African-Americans. When these patients had access to better care, they often had a better response to treatment. Another study demonstrated the need for caution when interpreting how genetic variations are linked to various diseases when comparing different populations.

Solving this genomic data and insights gap is the mission and focus of Global Gene Corp.  We are gathering genetic and health data from people all around the world – mainly in India, Africa, the Middle East and Latin America – and using this information to democratise genomics and precision medicine.

We’ve been busy making major progress towards our goals. For example, in March 2018, we announced a collaboration with the US-based Regeneron Genetics Centre  to create India’s largest sequencing programme, specifically aimed at generating genomic understanding of populations in the Indian sub-continent.

And in November 2018 we announced a partnership with the University of Namibia and the Namibian Ministry of Higher Education, Training and Innovation to bring the benefits of precision medicine to the country.

Namibia sits within the region of Africa that is widely believed to be the home of the world’s most ancient human race, with a population of 2.1 million people drawn from more than 10 different tribes and ethnic groups, all of which are likely to have their own genetic variations that influence health, disease and response to treatment.

As 2019 gets started, we’re looking forward to continuing to work towards our vision of bringing everyone the benefits of personalised medicine, wherever they come from and wherever they live.

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