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Slunecka JL, van der Zee MD, Beck JJ, et al. Implementation and implications for polygenic risk scores in healthcare. Hum Genomics. 2021;15(1):46doi: 10.1186/s40246-021-00339-y.
Slunecka, J. L., van der Zee, M. D., Beck, J. J., Johnson, B. N., Finnicum, C. T., Pool, R., Hottenga, J. J., de Geus, E. J. C., & Ehli, E. A. (2021). Implementation and implications for polygenic risk scores in healthcare. Human genomics, 15(1), 46. https://doi.org/10.1186/s40246-021-00339-y
Slunecka, John L, et al. "Implementation and implications for polygenic risk scores in healthcare." Human genomics vol. 15,1 (2021): 46. doi: https://doi.org/10.1186/s40246-021-00339-y
Slunecka JL, van der Zee MD, Beck JJ, Johnson BN, Finnicum CT, Pool R, Hottenga JJ, de Geus EJC, Ehli EA. Implementation and implications for polygenic risk scores in healthcare. Hum Genomics. 2021 Jul 20;15(1):46. doi: 10.1186/s40246-021-00339-y. PMID: 34284826; PMCID: PMC8290135.
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Hum Genomics. 2021 Jul 20;15(1):46. doi: 10.1186/s40246-021-00339-y.

Implementation and implications for polygenic risk scores in healthcare.

Human genomics

John L Slunecka, Matthijs D van der Zee, Jeffrey J Beck, Brandon N Johnson, Casey T Finnicum, René Pool, Jouke-Jan Hottenga, Eco J C de Geus, Erik A Ehli

Affiliations

  1. Avera Institute for Human Genetics, Avera McKennan & University Health Center, Sioux Falls, SD, USA. [email protected].
  2. Department of Biological Psychology, Netherlands Twin Register, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
  3. Avera Institute for Human Genetics, Avera McKennan & University Health Center, Sioux Falls, SD, USA.

PMID: 34284826 PMCID: PMC8290135 DOI: 10.1186/s40246-021-00339-y

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.

© 2021. The Author(s).

Keywords: Clinical genetics; Genetic risk; PRS; Polygenic risk score; Public health; Risk stratification

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