Implementation and implications for polygenic risk scores in healthcare

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 com...

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Bibliographic Details
Published in:Human genomics Vol. 15; no. 1; pp. 46 - 18
Main Authors: Slunecka, John L., van der Zee, Matthijs D., Beck, Jeffrey J., Johnson, Brandon N., Finnicum, Casey T., Pool, René, Hottenga, Jouke-Jan, de Geus, Eco J. C., Ehli, Erik A.
Format: Journal Article
Language:English
Published: London BioMed Central 20.07.2021
Springer Nature B.V
BMC
Subjects:
Algorithms
Bioinformatics
Biomedical and Life Sciences
Biomedicine
Cardiovascular disease
Clinical genetics
Diabetes
Ethnicity
Genes
Genetic Diseases, Inborn - genetics
Genetic Predisposition to Disease - genetics
Genetic risk
Genome-wide association studies
Genome-Wide Association Study - statistics & numerical data
Genomes
Health risk assessment
Human Genetics
Humans
Multifactorial Inheritance - genetics
Phenotype
Polygenic risk score
Proteomics
PRS
Public health
Quantitative genetics
Review
Risk Factors
Risk stratification
Schizophrenia
Polygenic risk score
PRS
Genetic risk
Clinical genetics
Public health
Risk stratification
ISSN:1479-7364, 1473-9542, 1479-7364
Online Access:Get full text
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Summary: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.
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ISSN:1479-7364
1473-9542
1479-7364
DOI:10.1186/s40246-021-00339-y