Few areas of science have seen such a dramatic development in the last decade as genomics. It is now possible to read the genomes of millions of people in so-called genome-wide association studies. These studies have identified thousands of small differences in our genome that are linked to diseases, such as cancer, heart disease and mental health.
Most of these genetic studies use data from white people – over 78% of participants are of European descent. This doesn’t mean that they represent Europe. In fact, only three nationalities make up most of the participants: the US, UK, and Iceland. Even though the UK and the US have very diverse populations, their non-white citizens have rarely been included in genetic research.
In recent years, efforts to collect multi-ethnic data have increased. One example is the UK Biobank, a collection of data from half a million British people accessible to any bona fide researcher. It includes some 35,000 DNA samples from people who are either non-European or “mixed-race”. Yet 92% of research papers on UK Biobank only used the data from the European-descent samples. So collecting data doesn’t automatically solve the problem of non-white representation in research.
The under-representation of non-European groups is problematic for scientific and ethical reasons. The effects of gene variants that are present only in the unstudied groups remain unknown, which means important clues about the causes of diseases might be missed. Such undiscovered genes would not be included when testing for genetic diseases. So a person carrying one of them could wrongly get a negative genetic test result and might be told that they are not at increased risk of developing the disease.
Our recent work also shows that existing genetic findings might not apply equally to non-European populations. We found that some gene variants predicting high cholesterol in white populations do not lead to the same heart problems in people from rural Uganda. These findings should serve as a major warning to the field of genetics – one cannot blindly apply findings from ancestrally European groups to everyone else.
It is important to support the global application of research because scientists have a moral responsibility to develop science for the benefit of the whole of humanity, not restricted by ethnic, cultural, economic or educational boundaries. Some 80% of the world’s population live in low and middle-income countries where healthcare and research are constrained by limited financial and human resources. We should not overlook this part of the world.
We are deeply grateful to our readers & viewers for their time, trust and subscriptions.
Quality journalism is expensive and needs readers to pay for it. Your support will define our work and ThePrint’s future.
Studying different populations has advanced the medical field for everyone’s benefit. For example, the first disease gene mapped in humans was the gene for Huntington’s disease in 1983, identified through examining a large population of patients in villages surrounding Lake Maracaibo in Venezuela. The area was found to have the largest concentration of Huntington’s disease sufferers in the world, which helped them to find the gene.
More recently, a study of schizophrenia found new risk genes by using African and Latino American samples. Genetic risk scores based on results from these groups improved the ability to predict who would develop schizophrenia in all ethnic groups.
Two things need to happen if we want to avoid increasing health disparities and instead share the medical benefits of genomic science across countries and ethnic groups. First, we need more large diverse studies. First steps in this direction are being taken by the Human Hereditary and Health in Africa Initiative. PAGE and All of Us are paving the way to recruit more diverse ethnic groups in the US, and East London Genes and Health focuses on people of South Asian origin in London.
And second, to make sure diverse ethnic data resources are widely used by researchers, the challenges of analysing genetic data from ancestrally diverse samples need to be addressed. While there are statistical solutions, more work is needed to make them easy to use and give clear guidance about the best approach.
Understanding how genetic risk and social inequality interact to influence disparities in disease risk and outcomes will be critical to improving public health for all.
Karoline Kuchenbaecker, Associate Professor, Psychiatry, UCL; Evangelos Vassos, Senior Clinical Research Fellow, Psychiatry, King’s College London, and Roseann Peterson, Assistant Professor, Statistical Geneticist, Virginia Commonwealth University
This article is republished from The Conversation under a Creative Commons license.
News media is in a crisis & only you can fix it
You are reading this because you value good, intelligent and objective journalism. We thank you for your time and your trust.
You also know that the news media is facing an unprecedented crisis. It is likely that you are also hearing of the brutal layoffs and pay-cuts hitting the industry. There are many reasons why the media’s economics is broken. But a big one is that good people are not yet paying enough for good journalism.
We have a newsroom filled with talented young reporters. We also have the country’s most robust editing and fact-checking team, finest news photographers and video professionals. We are building India’s most ambitious and energetic news platform. And we aren’t even three yet.
At ThePrint, we invest in quality journalists. We pay them fairly and on time even in this difficult period. As you may have noticed, we do not flinch from spending whatever it takes to make sure our reporters reach where the story is. Our stellar coronavirus coverage is a good example. You can check some of it here.
This comes with a sizable cost. For us to continue bringing quality journalism, we need readers like you to pay for it. Because the advertising market is broken too.
If you think we deserve your support, do join us in this endeavour to strengthen fair, free, courageous, and questioning journalism, please click on the link below. Your support will define our journalism, and ThePrint’s future. It will take just a few seconds of your time.