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Updated: Nov 26, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Polygenic risk scores for genetic counseling in psychiatry: Lessons learned from other fields of medicine
E Eeltink1, M Z van der Horst2, J R Zinkstok3
1Department of Psychiatry, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Abstract:
Polygenic risk scores (PRS) may aid in the identification of individuals at-risk for psychiatric disorders, treatment optimization, and increase in prognostic accuracy. PRS may also add significant value to genetic counseling. Thus far, integration of PRSs in genetic counseling sessions remains problematic because of uncertainties in risk prediction and other concerns. Here, we review the current utility of PRSs in the context of clinical psychiatry. By comprehensively appraising the literature in other fields of medicine including breast cancer, Alzheimer's Disease, and cardiovascular disease, we outline several lessons learned that could be applied to future studies and may thus benefit the incorporation of PRS in psychiatric genetic counseling. These include integrating PRS with environmental factors (e.g. lifestyle), setting up large-scale studies, and applying reproducible methods allowing for cross-validation between cohorts. We conclude that psychiatry may benefit from experiences in these fields. PRS may in future have a role in genetic counseling in clinical psychiatric practice, by advancing prevention strategies and treatment decision-making, thus promoting quality of life for (potentially) affected individuals.
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