The Gap Between the Research We Do and the Research the World Needs: A Focus on Genome-Wide Association Studies (GWAS)

Abstract

Background Genome Wide Association Studies (GWAS) have improved health outcomes by identifying genetic variance of traits. However, it introduces challenges related to the representation of the targeted population, where the focus is on particular populations and not fully representative of them. This could exacerbate disparities in health and lead to a disproportionate focus on selective traits. Method We explored the alignment between the traits in GWAS and the Global Burden of Disease (GBD) estimated in Disability-Adjusted Life Years (DALY), by creating a score measuring how much attention each aligned condition has received from GWAS. The inequality was measured using the concentration index, stratified by disease categories and Sociodemographic Index (SDI) regions. Results The alignment shows 38% of GBD conditions receive no attention, including drivers of the global burden such as neonatal encephalopathy and congenital heart anomalies. The concentration Index indicates the highest inequality in the Communicable, Maternal, Neonatal and Nutritional Diseases (CMNN) category where the estimate is 0.84 (95% CI:0.38, 1.30). The concentration curves of High SDI regions suggest excess attention is paid to conditions that do not necessarily contribute to the global burden. Conclusion The alignment reveals a gap in addressing diseases that contribute significantly to the global burden, particularly in the CMNN category. Overall, GWAS attention is not proportional and selected to certain conditions resulting in moderate inequality. Low SDI regions are experiencing the majority of health inequality. This highlights the importance of including multiple cohorts to collect the phenotypic information in those regions.