Ethnic Minorities: The Disparities in Genetic Research

For centuries humans have recognised the influence of inheritance, such as breeding two strong and healthy cows to produce similar high-quality offspring. However, the actual scientific research into this type of inheritance, also known as genetics, has only been studied since 1905, making the study of genetics a relatively young science. Since 1905, however, scientific discoveries and advancements in genetics has come on by leaps and bounds. But what happens when most genetic research is carried out only on those with white European ancestry?

A common use of genetics in healthcare is to look at variations in a person’s genome to see if they are at an increased risk of developing a certain disease. To look for variations in a genome, there must be a reference database of a ‘bog standard’ genetic blueprint to compare with. There are several different types of databases available, such as the Human Genome Project or Genome Wide Association Studies (GWAS).

To accurately recognise genetic variants, and determine whether these variants are harmful, there needs to be a diverse database to check against. However, genetic data has disproportionally been gained from white people of European descent, leaving a disparity in genetic information for ethnic minorities. In 2009, 96% of participants in GWAS were white, improving slightly to 78% in 2018. The consequence of not having a diverse genetic database can mean that when someone of an ethnic minority undergoes genetic testing, they often are found to have variants with unknown significance; this means the scientists cannot be sure whether the variants are harmful or not, because they have not encountered them before, due to lack of diversity in genetics research. This can often cause more questions than answers and can be incredibly frustrating to the individual.

Obtaining genetic information which reflects true diversity, requires robust and detailed grouping of people, for example, ‘African descent’ is not necessarily effective because Africa is one of the most genetically diverse places in the world. Indeed, one study which looked at only 426 people in 50 groups in sub-Saharan Africa, found more than 3 million genetic variants alone. Even on a smaller, country-wide scale, scientists have identified 6 subgroups of Han Chinese people based on genetics alone, which can all be localised to 6 different parts of China. Therefore, sequencing genomes based on ethnicity rather than localised geography will not necessarily capture the full range of variation, and it may be better to create separate reference genomes for localised geographic ancestry instead. Although it is not yet clear how these separate reference genomes will translate into effective healthcare outcomes, it will capture a more holistic understanding of the variation in humans. However, to achieve this diverse database of genetics, more participants from ethnic minority groups are required. But…this is much easier said than done.

One problem with gaining more participants from ethnic minority groups is fear of discrimination. It may be a concern that any differences found in the genetics between ethnic minorities and white people of European descent, will be utilised by individuals who seek to show that all people are not the same. Unfortunately, these fears are not unfounded; already, there are numerous articles condemning China for taking DNA from Uighur Muslims who are in their ‘re-education camps’ and used their genetic information to try and compose a list of physical traits which may identify someone in the general population as being a Uighur Muslim, and therefore eligible to be placed in the camps. Unfortunately, history and the behaviours of those who seek to discriminate will likely try to take advantage of any differences found in the genome, despite all humans being 99.9% genetically identical, so it is not surprising that this is a concern of ethnic minority groups when participating in genetics research. It is researcher’s responsibility then, to protect ethnic minorities against discrimination, and to prove that this will be the case.

A second important reason which explains why members of ethnic minority groups are resistant to participate in genetics studies, may be lack of trust in scientific researchers. Our history is littered with cases where ethnic minorities have been taken advantage of in scientific research and healthcare. In 1989, researchers in America studied schizophrenia and inbreeding in the Havasupai tribe without the patients’ consent, leading the Navajo Nation to ban its people from participating in health research, a ban which is still in place today. From 1932-1972, researchers studied the effects of syphilis in black patients if the disease is left untreated, without ever telling the patients they had the infection in the first place! It is therefore no surprise that ethnic minorities are fearful of participating in research when our history serves as a reminder of clear examples of abuse and oppression. Krystal Tsosie, a member of the Navajo Nation and geneticist states that we should not be asking ‘how do we get ethnic minority people comfortable with engaging with genomics?’, and instead we should be asking ‘what we can do to protect them after contributing to research?’.

Overall, a lack of diversity hinders our ability to understand complex genetic diseases, and potentially prevents the discovery of life-saving treatments. The focus of genetic research of ethnic minorities needs to be shifted and expanded into ensuring and proving that genetic information will be protected, and only used in the way that it was promised to be used; this should increase participation and, in turn, improve diversity of data. It is vital that we systematically gather more diverse data across ethnic groups to see where differences in genes contribute to disease, which ultimately will improve healthcare for ALL.

References

https://www.kqed.org/futureofyou/190836/indigenizing-genomics-or-how-to-erase-the-european-bias-in-gene-research

https://www.biospace.com/article/the-importance-of-increasing-diversity-in-genetic-research/

https://www.sciencenews.org/article/genetics-race-dna-databases-reference-genome-too-white

https://www.sciencenews.org/article/first-human-genome-project-20th-anniversary-future

https://www.pbs.org/wgbh/frontline/article/how-chinas-government-is-using-ai-on-its-uighur-muslim-population/

Disclaimer

The content of this blog is for entertainment purposes only. I am not a medical professional, so I have never and will never give medical advice in this blog. You should always speak to a healthcare professional about your unique health needs. My opinions are entirely my own and do not reflect the organisations or people I work for. I only discuss published literature in this blog which are referenced with links.

Comments

Post a Comment

Popular posts from this blog

Zombies: Can Gene Editing Cause an Apocalypse?

Scientists have long known that our DNA sequences can and do change. These changes can occur naturally or following exposure to mutagens or viral infections. Differences in DNA sequences are the reason that we have different coloured hair, are different heights, and have different eye colours. Changes in DNA sequence also mean that we can develop genetic disorders; early onset Alzheimer’s, some cancers, HIV and Cystic Fibrosis are all examples of disorders caused by changes in the DNA sequence. So, can we treat these disorders by changing the DNA sequence back? Gene editing is where DNA is added, removed, or altered at certain locations in the genome. Although gene editing is used in a wide range of situations, such as in the food industry, the first successful use of gene editing in humans was in 1995, when scientists were able to temporarily treat patients with severe immune system deficiency. Since then, advancements in gene therapy have come on leaps and bounds, and in 2020, the ...
Read more

Testing: Put Your Genes Under the Microscope

What do you think of when someone says ‘Mutation’? The X-men? A zombie apocalypse? In reality, a mutation is simply a naturally occurring, random change in a gene. These mutations often have no effect, but occasionally, they can be harmful; for example, they could increase a person’s risk of developing cancer, a genetic disorder, and other rare diseases. However, scientists can detect these gene changes through genetic testing. There are several types of genetic testing, and they can be used to test individuals at different life stages: pre-natal testing detects harmful mutations in a foetus before birth; childhood testing is usually used to confirm a medical diagnosis or predict whether a disorder may develop and therefore requires observation. Any mutations detected during pre-natal and childhood testing are usually due to an inherited genetic mutation; conversely, adult genetic testing is used to predict late-onset genetic disorders, usually caused by mutations that occur in that ...
Read more

Rudolph and Santa: Why Can We Use Animals to Investigate Humans?

In some cases, when carrying out scientific research, you cannot perform early investigations on humans due to ethical reasons. Therefore, to observe the impact of investigations in a real-world setting, rather than relying on theoretical or clinical research alone, we need a substitute to take the place of humans. For example, we could take a strain of Covid-19 and spray a bunch of bleach on it in a lab. Congratulations, we now have a potential way of killing Covid-19, let’s now just inject bleach into people to have the same result…not such a great idea (right Trump?). Ultimately, understanding scientific concepts and solving them in a clinical, theoretical setting, does not always translate into real-world solutions. Animals allow a kind of ‘intermediate’ to suggest how humans might respond, and thus have been vital in helping us understand human phenomena. But why do animals make the perfect ‘intermediate’? Widya Mulyasasmita, a geneticist from Stanford University, had a very cle...
Read more