Representation is needed before genetic testing is useful

Graphic by Angel Chen.

NC State is a pioneer in genetic research, using cutting-edge technologies to study how genes impact people, animals and food. Genetic counseling is undoubtedly going to continue to be a prevalent topic in our community.

However, a lack of diverse samples in genetic studies and discussion of its role in our research is a much more pressing concern. Genetic predictions are only reliable for those the data is sampled from, and there is a white bias in genetic research.

Genes are passed from parents to their children, acting as the user manuals that tell our bodies how to function. Serious medical conditions like cancer and diabetes have higher risks in certain people that can be identified through genetic testing. The convenience of a mail-in test can directly impact someone’s life, indicating whether their diet or lifestyle choices are more likely to cause life-or-death situations.

Genetic testing has real potential to help people; at least, the ones with access to accurate assessments. Historically, those included as research participants are of European descent. By definition, groups that historically live close together share genes that other areas won’t because of the gene pool available. Generations will interact with medicine, diet and culture in different ways than other areas of the world.

No test can verifiably tell you whether or not you’ll develop a disease, but there are dangerous consequences of genetic data when the information is wrong.

False assumptions regarding genetic results can introduce health concerns. If someone receives an inaccurate high risk of a disorder, they may become overly cautious and second guess the world they interact with to the detriment of their own social or physical health. On the other hand, a false low risk assessment might lead someone to ignore potential symptoms that put themselves or others in danger.

Research from the Broad Institute of MIT and Harvard University affirms that genetic risk data isn’t always useful for diverse populations. Genetic risk accuracy was compared around the world and international populations were found much less likely to get reliable genetic predictions compared to European descendants.

For example, African populations are shown to average around five-fold lower genetic prediction accuracy. This means that only one in five people of African descent will receive useful genetic risk information. The dangers of falsely believing one will or won’t develop a disease are significantly increased based on ethnicity.

Genetic testing is also often inaccessible in historically marginalized communities due to cost and availability. This puts diverse populations at even more of a disadvantage.

These disparities impact how individuals live their lives and healthcare itself. Accurately understanding risk allows providers to monitor early symptoms and prepare relevant medical support.

I have a family member with Celiac disease and know how important early detection is to avoid health complications. Celiac is an immune disorder linked to brittle bones, infertility and nervous system issues. Thankfully, avoiding eating the gluten found in breads and grains prevents many health issues.

As a white person of European descent, it's easy for me to use genetic testing to see if I need the same dietary restrictions as my family.

Genetic testing is over 99% accurate in determining whether sweet treats like cake and croissants would put someone’s health in danger. It’s also a far less invasive and risky option than swallowing a camera or having doctors slice directly into one’s gut to test for Celiac.

Genetic tests can impact health outcomes for the better. Identifying genetic risk has changed the way we detect and care for physical health and medicine, catching early signs of cancer and other diseases.

Tests for Celiac, heart disease and other gene-influenced disorders were developed using people like me. But this information isn’t going to be useful for everyone until we ensure studies include and emphasize diversity. Genetic research advances are only as good as their representation and accessibility.

While NC State doesn't currently offer genetic counseling, the practice connects closely with our university’s genomics research and sequencing services. Our community needs to recognize that the people we leave out are just as important as those we include; otherwise, scientific advances can endanger those it intends to help.

Article originally published via Technician, found here.