Read our latest publication from Lara Andreoli ESR4

TranSYS ESR 04  Lara Andreoli, at the KU Leuven, announces her latest publication on Taking the risk. A systematic review of ethical reasons and moral arguments in the clinical use of polygenic risk scores

Polygenic Risk Scores (PRS) can help predict an individual’s predisposition to certain health conditions by analyzing variations across multiple genes. This approach is particularly useful in assessing the risk of complex diseases that are influenced by many genetic factors, such as heart disease, diabetes, certain types of cancer, and psychiatric disorders. As science advances, their clinical use is now becoming reality. The potential benefits of PRS to improve patient care at individual and population levels have been extensively underlined. In practice, clinical PRS are already available via direct-to-consumer genetic companies and clinical trials are also on the way. However, the implementation of PRS in the healthcare system as tools of preventive and personalized medicine is still debated, as several scientific and ethical challenges hinder their responsible use.  


We have conducted a systematic review of the normative literature discussing ethical issues and moral arguments related to the use of PRS for the prevention and treatment of common complex diseases in clinical care. Our findings revealed 3 major clusters of ethical concerns: first, the harm that PRS might cause to individuals and their families; second, the risk that PRS contribute to widening already existing health disparities; third, the numerous open questions regarding best practices in clinical genetics and little ethical guidance to tackle them. Overall, our review shows that the ethical considerations applicable in monogenic settings will not be sufficient to face PRS emerging challenges, and ELSI research is urgently needed to fill the normative gap. 

 For more details about our article, follow the link: 10.1002/ajmg.a.63584 (DOI) 

About the author:

Lara Andreoli

ESR4: Polygenic Risk Score(s) in the clinic: ethical challenges and stakeholders’ perspectives