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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.
Polygenic risk scores (PRSs) use genetic data to predict disease risk, aiding personalized medicine. Challenges include validation, education, integration, and ethical considerations, especially regarding population diversity.
Area of Science:
- Genetics
- Genomics
- Personalized Medicine
Background:
- Advancements in genetic data analysis have enabled the development of polygenic risk scores (PRSs).
- PRSs leverage genome-wide association study (GWAS) summary statistics to assess an individual's genetic predisposition to common diseases.
- These scores hold potential for optimizing screening, prevention strategies, and personalized patient care.
Purpose of the Study:
- To review the current landscape of polygenic risk scores (PRSs).
- To discuss the nature, visualization, and improvement strategies for PRSs.
- To highlight challenges and ethical considerations associated with PRS implementation in healthcare.
Main Methods:
- Review of existing literature on polygenic risk scores (PRSs).
- Analysis of the components and applications of PRSs derived from GWAS data.
- Discussion of validation, education, integration, and ethical issues pertinent to PRSs.
Main Results:
- PRSs can stratify individuals by genetic risk for various common diseases.
- Potential benefits include optimized screening, preventative treatments, and personalized care.
- Significant challenges remain, including PRS validation, healthcare system integration, and ethical concerns, particularly the lack of diversity in PRS development populations.
Conclusions:
- PRSs offer a promising tool for personalized medicine and disease risk prediction.
- Addressing challenges in validation, education, integration, and ethical considerations, especially population diversity, is crucial for widespread adoption.
- Open discussion among scientists, clinicians, policymakers, and the public is essential to navigate the uses, benefits, and risks of PRSs.
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