The (mis-)alignment of genetic association studies to global health needs

Abstract Health research priorities are generally not aligned with global disease burden. Although genome-wide association studies (GWAS) are correcting a historical bias by including samples from different demographic groups, this does not necessarily translate to improved understanding of the most important causes of disease globally. We demonstrate that while in countries with high socioeconomic development index (SDI) there is some alignment between the traits being analysed in GWAS and those that contribute most to disease burden, there is almost no such alignment in countries with low SDI. Improvement in alignment between GWAS and disease burden has been seen for countries with middle SDI over time, likely due to the contributions to disease burden changing in those regions rather than GWAS responding to the needs of those regions. Low GWAS alignment with disease burden may be partially explained by lower GWAS attention to childhood health. Improving aetiological understanding of high burden neglected conditions should be a priority for emerging biobanks in order to reduce global health inequality. Short abstract We identify some alignment between the traits being analysed in genome-wide association studies (GWAS) and disease burden in high socioeconomic development index (SDI) countries, while there is almost no such alignment in countries with low SDI, mostly due to neglecting childhood infection. Improvement in alignment between GWAS and disease burden has been seen for countries with middle SDI over time likely due to changing disease burden.