Biomedical

Generalisation of genomic findings and applications of polygenic risk scores



  Peer Reviewed

Abstract

Polygenic Risk Scores (PRS) (also known as polygenic scores, genetic risk scores or polygenic indexes) capture genetic contributions of a multitude of markers that characterise complex traits. Although their likely application to precision medicine remains to be established, promising advances have included their ability to stratify high risk individuals and targeted screening interventions. Current PRS have been mostly optimised for individuals of Northern European ancestries. If PRS are to become widespread as a tool for healthcare applications, more diverse populations and greater capacity for derived interventions need to be accomplished. In this editorial we aim to attract submissions from the research community that highlight current challenges in development of PRS applications at scale. We also welcome manuscripts that delve into the ethical, social and legal implications that the implementation of PRS may generate.

Key Questions

What are Polygenic Risk Scores?

Polygenic Risk Scores (PRS) capture genetic contributions of multiple markers that characterize complex traits. They can help predict disease risk at early stages.

How can PRS be applied in healthcare?

PRS can be used for disease prevention, improving clinical management, drug development, population risk stratification, and targeted screening interventions.

What are the challenges in implementing PRS?

Challenges include limited diversity in training data, difficulty in choosing appropriate PRS for testing, and translating PRS into actionable benefits for individuals.

How can PRS be applied at scale?

Applying PRS at scale requires collecting diverse data through biobanks, developing clinical trials using PRS, and creating public/private partnerships with genetic testing companies.

What ethical considerations are there for PRS implementation?

Ethical considerations include patient privacy, informed consent, and potential genetic discrimination. Healthcare providers need training to properly communicate PRS-based genetic risk.