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Genomic research and its diversity problem

Genomic research has a diversity problem

When we started Eugene, we started with the belief that everyone should be able to access the benefits of genomic technologies to be proactive about their own and their family’s health. That was the optimistic, positive vision of a future we wanted to create. For me personally, it was also inspired by real concerns about the lack of ethnic diversity in genomic research and how this is affecting healthcare outcomes in Australia and beyond.

We’re a multi-cultural country with a population of many different ethnicities, and as a people, we are often a lot more mixed than we think we are. However, genomic research has largely included only people of European descent, which has resulted in a serious lack of representation of other ethnic groups in these genetic studies. This diversity gap in research has significant implications for healthcare outcomes.

Before we jump into that, let’s first visualise the problem. Here’s what diversity in genomic research currently looks like.

Genomic research representation, genetic research representation differences

A well-documented problem

The lack of diversity in genomic research is a well-known problem and has been extensively documented in scientific literature. Here are some statistics and facts that provide more context on this issue:

  • A 2016 study published in Nature found that less than 5% of participants in genome-wide association studies (GWAS) were of non-European ancestry.
  • In a 2019 study published in Cell, about 80% of participants in GWAS are of European descent, despite Europeans representing just 11% of the global population.
  • Things seem to have gotten worse and as of 2021 a study in Nature reported that the vast majority (86%) of genomics studies have been conducted in individuals of European descent, which is an increase from 81% in 2016.
  • In contrast, people of Asian, Middle-Eastern, African and Hispanic/Latino descent or peple with mixed ancestries are significantly underrepresented in genomic research.
  • In Australia, Indigenous Australians and other ethnic minorities are also severely underrepresented in genomic research.
  • The lack of diversity in genomic research is not just limited to ethnicity. Other factors, such as age, gender, and geography, can also influence the representation of study participants. For example, older adults, women, and people from low-income backgrounds are often underrepresented in genetic studies.

The implications of under-representation are far reaching

Certain genetic variants are more prevalent in certain ethnic groups. This means that genetic testing designed for people of European descent may not be as effective for people of other ethnicities.

For example, many genetic tests for breast cancer risk were developed using data from people of European descent, which means that they may not be as effective for women of other ethnicities, including Australian women of South Asian, East Asian, Indigenous or African descent. This is exactly why we work hard with our labs to cover as many known genes as possible to provide ethnically inclusive testing.

Another example in reproductive care is cystic fibrosis. Cystic fibrosis is more common in people of European descent. Still, it can also occur in people of other ethnicities, and existing genetic tests do not always capture some of the genetic variants that cause cystic fibrosis in these populations. This is why our expanded and comprehensive carrier screening tests sequence the entire cystic fibrosis gene to uncover as much known information as we possibly can.

Some medications and treatments can be less effective or even harmful for certain ethnic groups. For example, one study from 2016 found that testing for certain genetic variations when deciding on a dosage level of a a blood thinning drug resulted in over-medicating people with African ancestry. The tests only considered certain variants and didn’t consider others that people of African ancestry carry, which could cause an increased risk of uncontrolled bleeding.

Addressing the lack of diversity in research

There are a lot of efforts to address the lack of diversity in genomic research both globally and in Australia. Here are some examples:

In Australia:

  • The Australian government has invested in initiatives such as the Genomics Health Futures, which provides grants to organisations conducting implementation research addressing inequalities of access and increasing the quality of clinical genetics services for Aboriginal and/or Torres Strait Islander people..
  • A new national network will be established to advance the benefits from Genomic Medicine for Aboriginal and Torres Strait Islander people, after winning support under the Federal Government's Medical Research Future Fund.
  • OurDNA project is a flagship initiative of the Centre for Population Genomics, a collaboration between the Garvan Institute of Medical Research and Murdoch Children’s Research Institute to improve the representation of culturally and linguistically diverse Australian communities.


  • One of the most successful examples of global initiatives is the Human Heredity and Health in Africa (H3Africa) initiative, an one effort to improve genomic research in Africa, focusing on the continent's underrepresented populations.
  • The All of Us Research Program, launched by the US National Institutes of Health, aims to enroll at least one million people in the US, with a focus on including underrepresented groups such as racial and ethnic minorities.
  • The Global Alliance for Genomics and Health, an international coalition of researchers, healthcare providers, and patients, has developed guidelines for ethical and responsible sharing of genomic data, with a focus on ensuring diversity and inclusion.

Where to from here

The lack of diversity in genomic research has significant long-term implications for healthcare outcomes, particularly for people from diverse ethnic backgrounds. To address this issue we need a collaborative, coordinated and a focused global effort that spans across government, academia, public and private clinical genomic services.

Recruiting more diverse study participants and collecting data from diverse populations is the first step. We must also ensure that the data we collect is representative of the entire population.

At Eugene, ethnic inclusion in genetic testing has always been one of our core tenets so we do our best to ensure that the tests we offer are relevant for all Australians, regardless of their ethnicity.

Together, we must work towards more diverse representation in genomic research to improve the accuracy of genetic testing and make the benefits of personalised genomic healthcare accessible to all.