Preprint on GWAS effects on biomedical research

By | February 7, 2017

Critics of the large investment made into genome wide association studies have noted that few GWAS results have had direct clinical impact. Supporters note that GWAS can have major indirect impact by revealing novel genes involved in a disease and motivating follow-up research. But this indirect impact has never been measured.

In our manuscript, we quantify the impact of GWAS on biomedical research into individual genes, through scientific publications. We first show that GWAS have not changed the historical bias of biomedical research toward genes involved in Mendelian disease. We then show that GWAS hits do receive additional publications compared to control genes and model expectations, but this impact is diminishing. Our results thus demonstrate the need for reforms to ensure that promising GWAS hits are pursued.