Medicare Eligible? Explore Your Reproductive Carrier Test Options.
Medicare Eligible? Explore Your Reproductive Carrier Test Options.
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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.
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:
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.
There are a lot of efforts to address the lack of diversity in genomic research both globally and in Australia. Here are some examples:
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.