A recent article in El País has shed light on a crucial problem in the field of personalized medicine: the lack of diversity in clinical drug trials.
Most of these trials are conducted in populations of European origin, which can have serious consequences for populations that are not adequately represented in these trials, such as sub-Saharan populations.
A prominent example is the antiretroviral efavirenz, a drug that has saved millions of lives in sub-Saharan Africa in the fight against HIV. However, it has also caused serious psychiatric disorders in the African population due to a common genetic variant in this region that affects the metabolism of the drug. This example illustrates the importance of pharmacogeneticsa discipline that studies how genetic variations affect response to drugs.
However, the sub-Saharan population is underrepresented in pharmacogenetic studies. This lack of representation can lead to public health problems, as drugs are distributed on a large scale without taking into account the genetic differences of the population. More research involving these populations is essential in order to develop medicines that are safe and effective for everyone.
The article also mentions the project H3Africawhich seeks to reduce the gap in genetic and health research in Africa. This project has made it possible to genotype some 50,000 people from 30 African countries, which is an important step towards better understanding the genetic diversity of the African population. However, funding for the project is about to expire, which could jeopardize these advances.
The need to address this problem is clear. Genetic diversity is a reality that must be considered in medical and pharmacological research. The inclusion of all populations in clinical trials and pharmacogenetic research is essential to developing medicines that are safe and effective for all.
In the scientific literature, there are numerous examples illustrating the importance of genetic diversity in the response to drugs. For example, a study published in the journal Nature in 2017 (Petrovski et al., 2017) showed that rare genetic variants can have a significant impact on drug response in different populations.
In conclusion, it is essential that the pharmaceutical industry and the scientific community at large take steps to include all populations in clinical trials and pharmacogenetic research. Only then can we develop medicines that are safe and effective for everyone, regardless of ethnicity.
At ADNTRO we are actively working to address this issue. We are developing an algorithm that will allow a comparison with relevant reference populations for individuals of non-European ancestry. This algorithm will allow us to better understand how genetic variations can affect drug response in these populations.
Petrovski, S., Todd, J. L., Durheim, M. T., Wang, Q., Chien, J. W., Kelly, F. L.,... Gibson, G., & Goldstein, D. B. (2017). An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. American Journal of Respiratory and Critical Care Medicine, 196(1), 82-93. https://doi.org/10.1164/rccm.201609-1824OC