Democratizing Genetic Testing: Why Cultural Diversity Matters in Genetics Research

Weilong Li is a student in the Genetic Counseling Master's Program at Northwestern University. 

Scientific research in genetics has changed how we think about many aspects of healthcare in recent years. Today, genetic testing is available for a variety of conditions and has the potential to improve the care of billions of people around the globe. Genetic tests can determine if a person has a higher chance to develop certain types of cancer. We can use this knowledge about risk to detect cancer early or even prevent cancer before it happens. Genetic tests are also used in the reproductive setting. We can screen couples to see if they are at increased risk of having a child with a serious medical condition. When done prior to pregnancy, this can help couples make decisions before they even conceive. These advances in genetics knowledge have drastically changed how doctors and other healthcare providers treat their patients.

Although we have learned so much about genetics in the past few decades, there is still a lot of information we don’t know. And unfortunately, the amount of information we don’t know is greater for some groups of people than for others. The majority of scientific research on human genetics and health has been done in the United States and Europe. Because of this, we know more about the genetics of people with European ancestry than people from other parts of the world. Our genetic changes, including the ones that can cause disease, can be unique to where our families come from. So someone with a genetic condition from Thailand could have a completely different genetic cause for that condition than someone from Germany. And if we only know about the genetic changes in the person from Germany, it doesn’t do us any good when we are taking care of the person from Thailand!

This is even the case for some of the more common genetic tests that are used today. When we do cancer genetic testing for example, there is a chance of receiving an uncertain result. This type of result happens when we don’t know whether a change that was found in someone’s genes is disease-causing or if it is a normal genetic difference. This type of result can be scary for many patients. Sometimes even scarier than being told that they are at a higher chance of developing cancer! Because of our skewed knowledge of genetics, people of non-European ancestry have a much higher chance of receiving one of these uncertain results than Europeans.

... the promise of genetics to change healthcare cannot be fully realized until all of us, regardless of where in the world we originate, can have access to the same standards of care.

Genetics has definitely changed how patients are being taken care of in the United States and across the globe. However, the promise of genetics to change healthcare cannot be fully realized until all of us, regardless of where in the world we originate, can have access to the same standards of care.

You may wonder what you can do to help expand our knowledge of genetics. The most impactful thing that you can do is to personally participate in genetics research, including through the All of Us research program. The All of Us research program is a project through the National Institutes of Health, which will look at how the things that make us unique—lifestyle, environment, and biology—can all be used to truly personalize our healthcare. If we all participate in these programs, coming from our different backgrounds and ancestries, we can help to advance how much we all know about genetics. And if we can do that, we can truly make genetics a powerful tool for improving the healthcare of everyone.