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Biomedical

Generalisation of genomic findings and applications of polygenic risk scores

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Manuel Corpas,

Manuel Corpas


Segun Fatumo

Segun Fatumo


  Peer Reviewed

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© attribution CC-BY

  • 0

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515 Views

Added on

2024-12-03

Doi: https://doi.org/10.1186/s12920-023-01615-7

Related Subjects
Anatomy
Biochemistry
Epidemiology
Genetics
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Physiology
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Primary care
Women and reproductive health

Abstract

Polygenic Risk Scores (PRS) (also known as polygenic scores, genetic risk scores or polygenic indexes) capture genetic contributions of a multitude of markers that characterise complex traits. Although their likely application to precision medicine remains to be established, promising advances have included their ability to stratify high risk individuals and targeted screening interventions. Current PRS have been mostly optimised for individuals of Northern European ancestries. If PRS are to become widespread as a tool for healthcare applications, more diverse populations and greater capacity for derived interventions need to be accomplished. In this editorial we aim to attract submissions from the research community that highlight current challenges in development of PRS applications at scale. We also welcome manuscripts that delve into the ethical, social and legal implications that the implementation of PRS may generate.

Key Questions

What are Polygenic Risk Scores?

Polygenic Risk Scores (PRS) capture genetic contributions of multiple markers that characterize complex traits. They can help predict disease risk at early stages.

How can PRS be applied in healthcare?

PRS can be used for disease prevention, improving clinical management, drug development, population risk stratification, and targeted screening interventions.

What are the challenges in implementing PRS?

Challenges include limited diversity in training data, difficulty in choosing appropriate PRS for testing, and translating PRS into actionable benefits for individuals.

How can PRS be applied at scale?

Applying PRS at scale requires collecting diverse data through biobanks, developing clinical trials using PRS, and creating public/private partnerships with genetic testing companies.

What ethical considerations are there for PRS implementation?

Ethical considerations include patient privacy, informed consent, and potential genetic discrimination. Healthcare providers need training to properly communicate PRS-based genetic risk.

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ARTICLE USAGE


Article usage: Dec-2024 to May-2025
Show by month Manuscript Video Summary
2025 May 116 116
2025 April 132 132
2025 March 72 72
2025 February 54 54
2025 January 74 74
2024 December 67 67
Total 515 515
Show by month Manuscript Video Summary
2025 May 116 116
2025 April 132 132
2025 March 72 72
2025 February 54 54
2025 January 74 74
2024 December 67 67
Total 515 515
Related Subjects
Anatomy
Biochemistry
Epidemiology
Genetics
Neuroscience
Psychology
Oncology
Medicine
Musculoskeletal science
Pediatrics
Pathology
Pharmacology
Physiology
Psychiatry
Primary care
Women and reproductive health
copyright icon

© attribution CC-BY

  • 0

rating
515 Views

Added on

2024-12-03

Doi: https://doi.org/10.1186/s12920-023-01615-7

Related Subjects
Anatomy
Biochemistry
Epidemiology
Genetics
Neuroscience
Psychology
Oncology
Medicine
Musculoskeletal science
Pediatrics
Pathology
Pharmacology
Physiology
Psychiatry
Primary care
Women and reproductive health

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