Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues

Clinical use of polygenic risk scores (PRS) will look very different to the more familiar monogenic testing. Here we argue that despite these differences, most of the ethical, legal, and social issues (ELSI) raised in the monogenic setting, such as the relevance of results to family members, the app...

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Bibliographic Details
Published in:Genome medicine 2021-01, Vol.13 (1), p.14-14, Article 14
Main Authors: Lewis, Anna C F, Green, Robert C
Format: Article
Language:English
Subjects:
Biomarkers - metabolism
Breast cancer
Cardiovascular disease
Clinical Medicine
Diabetes
Disease prevention
Ethics
Ethics, Medical
Family
Genealogy
Genetic Predisposition to Disease
Genetics
Genomes
Genomics
Health aspects
Health risk assessment
Humans
Mammography
Multifactorial Inheritance - genetics
Opinion
Public Health
Risk Factors
Social aspects
Testing laboratories
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Summary:Clinical use of polygenic risk scores (PRS) will look very different to the more familiar monogenic testing. Here we argue that despite these differences, most of the ethical, legal, and social issues (ELSI) raised in the monogenic setting, such as the relevance of results to family members, the approach to secondary and incidental findings, and the role of expert mediators, continue to be relevant in the polygenic context, albeit in modified form. In addition, PRS will reanimate other old debates. Their use has been proposed both in the practice of clinical medicine and of public health, two contexts with differing norms. In each of these domains, it is unclear what endpoints clinical use of PRS should aim to maximize and under what constraints. Reducing health disparities is a key value for public health, but clinical use of PRS could exacerbate race-based health disparities owing to differences in predictive power across ancestry groups. Finally, PRS will force a reckoning with pre-existing questions concerning biomarkers, namely the relevance of self-reported race, ethnicity and ancestry, and the relationship of risk factors to disease diagnoses. In this Opinion, we argue that despite the parallels to the monogenic setting, new work is urgently needed to gather data, consider normative implications, and develop best practices around this emerging branch of genomics.
ISSN:1756-994X
1756-994X
DOI:10.1186/s13073-021-00829-7