Unleashing the Power of Genetic Diversity

Medical science faces a significant challenge—it lacks something crucial. This absence hinders the discovery of disease causes and effective treatments, resulting in the oversight of certain illnesses. Surprisingly, what it lacks could be you, but I'll elaborate on that shortly. Let's begin with a story—eight billion stories, to be precise.

Our DNA serves as both a set of instructions for our bodies and a historical record of our unique genetic narratives. These narratives trace back approximately 300,000 years ago when humans emerged in Africa. Some genetic stories recount journeys to Europe, East Asia, or the Americas hundreds of thousands of years later. Others describe the expansion of empires, the diseases we adapted to fend off, or the simple act of settling down, raising livestock, and consuming their milk. While each genetic story differs, they are not as distinct as one might expect. We share 99.9% of our DNA with one another. Our stories are 99.9% identical, but the remaining 0.1% difference possesses incredible significance. Within this tiny fraction of disparity lies the potential to develop more effective treatments that work universally. However, at present, medical science fails to analyze all these stories comprehensively.

To explain further, let me delve into how researchers investigate disease causes and develop and test new treatments. When trying to determine the causes of a specific disease, researchers gather numerous individuals affected by the condition and examine their genetic narratives. They search for minor variations—subtle differences in their DNA stories. If they discover any variations, they explore various approaches to address their effects. If a promising lead emerges, they proceed to conduct a clinical trial to verify its efficacy. In phase one, a small group of volunteers receives the treatment, while the other half typically receives a placebo with no therapeutic effect. If the target dose yields no significant side effects, the treatment advances to the next stage of the trial. Phase two involves a larger group of participants with the same condition the researchers hope to treat. If the drug demonstrates effectiveness, it progresses to phase three, where more participants receive it over an extended period. Only after completing all these steps is the new treatment reviewed and, hopefully, approved for use by the general population.

However, there is a problem. The ethnic diversity of the individuals utilized to identify disease causes is vastly different from the world's population distribution. The genetic narratives researchers examine are predominantly biased toward individuals of European descent. Consequently, if you are searching for disease-causing genetic segments to target new drugs, primarily relying on the narratives of people of European descent may lead to overlooking vital segments in other diverse groups. These segments may indicate altered disease risks or shed light on disease mechanisms. For example, scientists might not have discovered the mutation responsible for sickle cell disorder if they had solely examined the narratives of individuals of European descent. Moreover, medical science's knowledge gap extends beyond this issue.

When testing new treatments or medical devices, it is crucial to include individuals who represent the diverse range of narratives in our global library. If the genetic narratives involved in clinical trials fail to reflect the full spectrum of our collective stories, important insights may be missed. For instance, the medication Warfarin, used to prevent blood clots, has been found to require lower doses for most individuals of East Asian descent compared to certain individuals of European descent. Conversely, individuals of African ethnicity often require higher doses. Consequently, the optimal dosage may vary based on one's ethnicity. Such critical information can be overlooked if clinical trials exclude participants from various ethnic backgrounds.

So, what is the solution? In theory, it's quite simple. To develop treatments that are effective for everyone, we must incorporate everyone's stories into medical research—from the initial stages to drug development and throughout clinical trials. Encouragingly, an increasing number of individuals are recognizing this need. For instance, cancer researchers at University College London aspire to analyze tissue samples from diverse ethnicities in their quest to identify genetic markers for cancer. By doing so, they aim to ensure that the biomarkers they discover are relevant for individuals from as many ethnic backgrounds as possible. In summary, medical science must strive to possess the most comprehensive library imaginable—one that encompasses a broad collection of genetic narratives—so that every individual's story can be considered, including yours. This is the only way to ensure that everyone, regardless of their location, can receive the best possible medical treatment.

Henrik Leandro