Abstract

Polygenic risk scores, which combine the effects of variants from across the genome to characterise an individual’s inherited risk for disease, have the potential to identify people who can benefit from enhanced screening, preventative programs and early intervention but who are currently invisible to healthcare practice. However, delivering the benefit of such technologies in real-world settings requires solving many challenges, including: establishing analytical stability of the technology; ensuring validity of the risk predictions within the population to which it will be applied and across the breadth of context (including age, sex, ethnicity and geography); providing an evidence base for the clinical benefit that can be achieved within the pathways where such information is deployed; and demonstrating implementation feasibility. Using examples from our own studies, I will assess where we are on the path to successful realisation of the promise of precision prevention.