Abstract

Polygenic risk scores (PRS) are increasingly promoted as tools for improving disease risk stratification and 
preventive care in primary healthcare settings. By aggregating the effects of thousands of common genetic 
variants, PRS offer probabilistic insights into an individual’s susceptibility to complex diseases beyond 
conventional clinical risk factors. Despite growing evidence of potential clinical utility, the integration of PRS into 
primary care raises significant ethical, legal, and social implications (ELSI) that remain insufficiently addressed. 
This paper critically examines these implications with particular focus on consent models, governance frameworks, 
data protection, equity, and trust in patient–clinician relationships. Drawing on international policy developments 
and emerging clinical experiences, the analysis explores challenges related to informed, broad, and dynamic 
consent; regulatory oversight and accountability; data privacy and re-identification risks; disparities arising from 
ancestry bias and unequal access; and the communication of probabilistic risk in time-constrained primary care 
settings. The paper argues that without robust governance structures, transparent consent processes, and 
sustained trust-building measures, the deployment of PRS risks exacerbating health inequities, undermining 
autonomy, and eroding public confidence in genomic medicine. It concludes by offering practical recommendations 
for responsible implementation, emphasizing the need for proportionate regulation, clinician education, equity
oriented validation, and patient-centred communication to ensure that PRS adoption in primary care aligns with 
ethical principles and public health goals.