Identifying the Missing Piece in Medical Research

Medical science faces a significant challenge, as it lacks crucial pieces of information. This missing element not only hinders the discovery of disease causes and effective treatments but also leads to the oversight of certain diseases altogether. Surprisingly, the missing piece might be you—and I'll elaborate on that shortly. To begin, let's consider the story of humanity, all 8 billion of them, recorded within our DNA. Our genetic code not only serves as our body's instruction manual but also a history book, chronicling our unique genetic heritage. The journey of our genetic stories began around 300,000 years ago when humans emerged in Africa. Some stories tell of migrations into Europe, East Asia, or the Americas. Others narrate the rise of empires, the evolution of diseases we developed defenses against, and even the simple acts of settling down and domesticating animals. Although each genetic story is distinct, there is an astonishing 99.9% similarity in our DNA with each other. However, the remaining 0.1% difference holds tremendous power. Within that tiny fraction lies the potential to develop improved treatments that work universally for everyone.

Regrettably, medical science is not currently delving into all these genetic stories. To explain this, let's examine how researchers investigate the causes of diseases and develop and test new treatments. They start by studying numerous individuals afflicted with a particular condition and analyzing their genetic stories. They search for subtle variations, small differences in their DNA sequences. If they find such variations, they explore different ways to address their effects. Once they identify promising leads, clinical trials ensue. In phase one, a small group of volunteers tries the treatment, often with some receiving a placebo. If there are no significant side effects at the target dose, the treatment progresses to phase two, where a larger group of participants with the same condition is involved. Should the drug prove effective, phase three commences, with even more participants undergoing extended testing. Only after these extensive stages is the new treatment reviewed and, hopefully, approved for use by the general population.

Nevertheless, there is a glaring issue with this approach. The ethnicity of the subjects used in finding the causes of diseases is highly skewed towards individuals of European descent. This imbalance means that essential elements in the genetic stories of diverse groups might be disregarded. For instance, the mutation responsible for sickle cell disorder might not have been discovered if researchers had solely focused on people of European descent. The problem doesn't end there; even when testing new treatments or medical devices, it is crucial to include individuals from all walks of life. If clinical trials don't represent the full breadth of our global genetic library, vital insights may be missed. For example, the medicine Warfarin, used to prevent blood clots, requires different dosages for individuals of East Asian, European, and African descent. The failure to include diverse ethnicities in clinical trials could lead to suboptimal treatment outcomes for some individuals.

The solution to this issue is relatively straightforward, at least in theory. To develop treatments that work effectively for everyone, we must involve everyone's genetic stories in medical research from the outset—through early-stage research, drug development, and throughout clinical trials. Encouragingly, many researchers are now considering this approach. For instance, cancer researchers at University College London are working to analyze tissue samples from a wide range of ethnicities to ensure that the genetic markers they identify are relevant for people from all backgrounds.

In conclusion, for medical science to provide the best possible treatments for everyone, it must amass the most comprehensive collection of genetic stories possible. This inclusive approach ensures that everyone's unique genetic makeup is considered, including yours. Only then can we ensure that people worldwide receive the optimal medical care they deserve.