Related Experiment Video
Updated: Oct 27, 2025

Implementation of a Real-Time Psychosis Risk Detection and Alerting System Based on Electronic Health Records using CogStack
Published on: May 15, 2020
Implementation and implications for polygenic risk scores in healthcare
John L Slunecka1, Matthijs D van der Zee2, Jeffrey J Beck3
1Avera Institute for Human Genetics, Avera McKennan & University Health Center, Sioux Falls, SD, USA. john.slunecka@coyotes.usd.edu.
Abstract:
Increasing amounts of genetic data have led to the development of polygenic risk scores (PRSs) for a variety of diseases. These scores, built from the summary statistics of genome-wide association studies (GWASs), are able to stratify individuals based on their genetic risk of developing various common diseases and could potentially be used to optimize the use of screening and preventative treatments and improve personalized care for patients. Many challenges are yet to be overcome, including PRS validation, healthcare professional and patient education, and healthcare systems integration. Ethical challenges are also present in how this information is used and the current lack of diverse populations with PRSs available. In this review, we discuss the topics above and cover the nature of PRSs, visualization schemes, and how PRSs can be improved. With these tools on the horizon for multiple diseases, scientists, clinicians, health systems, regulatory bodies, and the public should discuss the uses, benefits, and potential risks of PRSs.
More Related Videos
06:55Inverse Probability of Treatment Weighting Propensity Score using the Military Health System Data Repository and National Death Index
Published on: January 8, 2020
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Related Concept Videos
Polygenic Traits
Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Sensitivity, Specificity, and Predicted Value
Sensitivity is the...