Polygenic Risk Scores: Clinical Utility and Challenges
Genome Medicine
Summary
This study reviews the transition of Polygenic Risk Scores (PRS) from research settings to potential clinical applications, evaluating their predictive power and limitations.
Study Design
Interventions
Study Type
Outcomes
Duration and Size
Study Population
Age Range
Sex
Geography
Other Criteria
Methodology
The study uses a meta-analysis approach to review existing research on PRS across different diseases. It highlights how PRS is constructed using genome-wide association study data and discusses statistical methodologies such as LDpred and PRSice. Key considerations include PRS validation, population stratification, and clinical applicability.
Interventions
The study discusses PRS as a genetic tool for identifying individuals at increased disease risk. It reviews how PRS is used in cardiovascular disease, diabetes, and psychiatric disorders for risk stratification and potential early interventions.
Key Findings
Polygenic risk scores show promise in predicting individual disease risk, especially for cardiovascular conditions, type 2 diabetes, and psychiatric disorders. However, PRS faces challenges such as limited predictive accuracy, lack of validation in diverse populations, and ethical concerns regarding genetic determinism. The study emphasizes the need for further research before PRS can be fully integrated into clinical practice.
Comparison with other Studies
Polygenic risk scores (PRS) have emerged as promising tools for predicting genetic susceptibility to various diseases, yet their clinical utility remains debated. Lewis and Vassos (2020) discuss PRS as potential instruments for risk stratification, but emphasize their limited predictive power in isolation. Similarly, a Nature Communications (2019) study found PRS accuracy varies significantly across ancestral populations, highlighting the need for more diverse genetic datasets. A 2023 BMJ Medicine review concluded that while PRS modestly improve risk prediction when combined with clinical factors, they are insufficient as standalone diagnostic tools. Conversely, a Circulation: Genomic and Precision Medicine (2021) review found PRS useful for coronary artery disease and hypertension, especially when integrated with traditional assessments. These studies collectively suggest that while PRS offer valuable insights into genetic predisposition, their reliability and applicability depend on improving their predictive accuracy, ensuring diverse population representation, and integrating them effectively into existing clinical frameworks.
Journal Reference
Lewis CM, Vassos E. Polygenic risk scores: from research tools to clinical instruments. Genome Med. 2020;12(1):44. doi:10.1186/s13073-020-00742-5
Related and Discussions
Harvard Study reveals 72% of the US public approves selecting embryos based on DNA (polygenic scores) for likelihood of developing conditions and traits. What do you think?
Can polygenic risk scores contribute to cost-effective cancer screening?
Systematic Review of Polygenic Risk Scores for Type 1 and Type 2 Diabetes
For over 4 million insurees, 'free' polygenic risk scores for 8 conditions (including heart disease, multiple cancers, type 2 diabetes...)
Polygenic risk scores may be able to help clinicians differentiate the more dangerous prostate cancers from those that will never cause an issue.
Do polygenic risk scores developed to research coronary heart disease have clinical and commercial applications?
Researchers incl @nialljlennon have implemented polygenic risk scores for clinical research for 10 common diseases including heart disease.
Does the addition of a polygenic risk score for CVD to clinical risk scores improve the identification of individuals at increased risk?
Polygenic Risk Scores: Development, Validation and Applications
Stay informed. Stay ahead.
Subscribe now for the latest breakthroughs, expert insights, and cutting-edge updates in diabetes care—delivered straight to your inbox.