It is hard to believe that it is only a decade since the first genome-wide association studies (GWAS) were published.  These initial studies demonstrated that the genes contributing to common diseases in the community were tractable.  Since then, GWAS have become established as a robust methodology and thousands of loci have been mapped for multiple diseases, including osteoporosis.  Although sometimes criticised for being a hypothesis-free approach GWAS have shown the benefit of approaching biological questions with an open mind, with illumination of novel and previously unsuspected biological pathways.  In osteoporosis, over 60 loci have been identified but many more loci, at genome-wise significance, will imminently be published.  Successful drug development has been shown to be predicated on genetic findings (both from GWAS and from monogenic discoveries), with musculo-skeletal disease the disease group with the highest correlation between genetic findings and successful drug targeting.  Such data emphasise that GWAS ‘hits’ are not phenomenology but are biologically relevant and should inform functional work in the broader scientific community – though such translation seems to be often lacking.  Nonetheless, GWAS are an extraordinary resource and powerhouse of ideas to inform future research and development.

In this talk I will present the current state of play in GWAS in osteoporosis and BMD, and make suggestions regarding future developments in the field.