Population diversity and equity in the genomic era: going global to return to the local

Abstract

Advances in precision medicine depend on the quantity and quality of available genomic information. Various articles alert about the current disparities between the world’s regions regarding the amount of genomic information available and the negative impact this will have on global health. The objective of this paper is to review these articles to describe what aspects they emphasize and highlight some issues that remain to be analyzed from the perspective of a “peripheral” country. Most of these articles come from central countries, where the need for more diversity in genomics is already detected. Several authors analyze lack of human diversity with focus on national, while others analyze the problem from a global perspective. Depending on the country of origin of the research, the claim for greater diversity has different meanings. Broadly, high-income countries advocate for better coverage looking within the boundaries of their own countries. In other regions of the world, where this field of research has not yet been massively developed, the same need for greater inclusiveness of origins in population genomics studies is not detected. An under-analyzed aspect is the unequal starting point between regions regarding the economic resources available for the development of this field of medicine, and for science and health in general. Although this macroeconomic and social aspect is usually absent in scientific analyses, without it solved, it will be impossible to guarantee that all world populations are equally represented in the panels or genomic databases that serve as input for precision medicine development.