Staff View: The clinical utility of polygenic risk scores in genomic medicine practices: A systematic review

The clinical utility of polygenic risk scores in genomic medicine practices: A systematic review

Genomic medicine aims to improve health using the individual genomic data of people to inform care. While clinical utility of genomic medicine in many monogenic, Mendelian disorders is amply demonstrated, clinical utility is less evident in polygenic traits, e.g., coronary artery disease or breast c...

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Main Authors:	Kumuthini, Judit, Zick, Brittany, Balasopoulou, Angeliki, Chalikiopoulou, Constantina, Dandara, Collet, El-Kamah, Ghada, Findley, Laura, Katsila, Theodora, Li, Rongling, Bon Maceda, Ebner, Monye, Henrietta, Rada, Gabriel, Thong, Meow-Keong, Wanigasekera, Thilina, Kennel, Hannah, Marimuthu, Veeramani, Williams, Marc S., Al-Mulla, Fahd, Abramowicz, Marc, Investigators, G2MC Evidence
Format:	Article
Published:	Springer 2022
Subjects:	R Medicine
Online Access:	http://eprints.um.edu.my/41252/
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spelling	my.um.eprints.412522023-09-15T04:16:25Z http://eprints.um.edu.my/41252/ The clinical utility of polygenic risk scores in genomic medicine practices: A systematic review Kumuthini, Judit Zick, Brittany Balasopoulou, Angeliki Chalikiopoulou, Constantina Dandara, Collet El-Kamah, Ghada Findley, Laura Katsila, Theodora Li, Rongling Bon Maceda, Ebner Monye, Henrietta Rada, Gabriel Thong, Meow-Keong Wanigasekera, Thilina Kennel, Hannah Marimuthu, Veeramani Williams, Marc S. Al-Mulla, Fahd Abramowicz, Marc Investigators, G2MC Evidence R Medicine Genomic medicine aims to improve health using the individual genomic data of people to inform care. While clinical utility of genomic medicine in many monogenic, Mendelian disorders is amply demonstrated, clinical utility is less evident in polygenic traits, e.g., coronary artery disease or breast cancer. Polygenic risk scores (PRS) are subsets of individual genotypes designed to capture heritability of common traits, and hence to allow the stratification of risk of the trait in a population. We systematically reviewed the PubMed database for unequivocal evidence of clinical utility of polygenic risk scores, using stringent inclusion and exclusion criteria. While we identified studies demonstrating clinical validity in conditions where medical intervention based on a PRS is likely to benefit patient outcome, we did not identify a single study demonstrating unequivocally such a benefit, i.e. clinical utility. We conclude that while the routine use of PRSs hold great promise, translational research is still needed before they should enter mainstream clinical practice. Springer 2022-11 Article PeerReviewed Kumuthini, Judit and Zick, Brittany and Balasopoulou, Angeliki and Chalikiopoulou, Constantina and Dandara, Collet and El-Kamah, Ghada and Findley, Laura and Katsila, Theodora and Li, Rongling and Bon Maceda, Ebner and Monye, Henrietta and Rada, Gabriel and Thong, Meow-Keong and Wanigasekera, Thilina and Kennel, Hannah and Marimuthu, Veeramani and Williams, Marc S. and Al-Mulla, Fahd and Abramowicz, Marc and Investigators, G2MC Evidence (2022) The clinical utility of polygenic risk scores in genomic medicine practices: A systematic review. Human Genetics, 141 (11). pp. 1697-1704. ISSN 0340-6717, DOI https://doi.org/10.1007/s00439-022-02452-x <https://doi.org/10.1007/s00439-022-02452-x>. 10.1007/s00439-022-02452-x
institution	Universiti Malaya
building	UM Library
collection	Institutional Repository
continent	Asia
country	Malaysia
content_provider	Universiti Malaya
content_source	UM Research Repository
url_provider	http://eprints.um.edu.my/
topic	R Medicine
spellingShingle	R Medicine Kumuthini, Judit Zick, Brittany Balasopoulou, Angeliki Chalikiopoulou, Constantina Dandara, Collet El-Kamah, Ghada Findley, Laura Katsila, Theodora Li, Rongling Bon Maceda, Ebner Monye, Henrietta Rada, Gabriel Thong, Meow-Keong Wanigasekera, Thilina Kennel, Hannah Marimuthu, Veeramani Williams, Marc S. Al-Mulla, Fahd Abramowicz, Marc Investigators, G2MC Evidence The clinical utility of polygenic risk scores in genomic medicine practices: A systematic review
description	Genomic medicine aims to improve health using the individual genomic data of people to inform care. While clinical utility of genomic medicine in many monogenic, Mendelian disorders is amply demonstrated, clinical utility is less evident in polygenic traits, e.g., coronary artery disease or breast cancer. Polygenic risk scores (PRS) are subsets of individual genotypes designed to capture heritability of common traits, and hence to allow the stratification of risk of the trait in a population. We systematically reviewed the PubMed database for unequivocal evidence of clinical utility of polygenic risk scores, using stringent inclusion and exclusion criteria. While we identified studies demonstrating clinical validity in conditions where medical intervention based on a PRS is likely to benefit patient outcome, we did not identify a single study demonstrating unequivocally such a benefit, i.e. clinical utility. We conclude that while the routine use of PRSs hold great promise, translational research is still needed before they should enter mainstream clinical practice.
format	Article
author	Kumuthini, Judit Zick, Brittany Balasopoulou, Angeliki Chalikiopoulou, Constantina Dandara, Collet El-Kamah, Ghada Findley, Laura Katsila, Theodora Li, Rongling Bon Maceda, Ebner Monye, Henrietta Rada, Gabriel Thong, Meow-Keong Wanigasekera, Thilina Kennel, Hannah Marimuthu, Veeramani Williams, Marc S. Al-Mulla, Fahd Abramowicz, Marc Investigators, G2MC Evidence
author_facet	Kumuthini, Judit Zick, Brittany Balasopoulou, Angeliki Chalikiopoulou, Constantina Dandara, Collet El-Kamah, Ghada Findley, Laura Katsila, Theodora Li, Rongling Bon Maceda, Ebner Monye, Henrietta Rada, Gabriel Thong, Meow-Keong Wanigasekera, Thilina Kennel, Hannah Marimuthu, Veeramani Williams, Marc S. Al-Mulla, Fahd Abramowicz, Marc Investigators, G2MC Evidence
author_sort	Kumuthini, Judit
title	The clinical utility of polygenic risk scores in genomic medicine practices: A systematic review
title_short	The clinical utility of polygenic risk scores in genomic medicine practices: A systematic review
title_full	The clinical utility of polygenic risk scores in genomic medicine practices: A systematic review
title_fullStr	The clinical utility of polygenic risk scores in genomic medicine practices: A systematic review
title_full_unstemmed	The clinical utility of polygenic risk scores in genomic medicine practices: A systematic review
title_sort	clinical utility of polygenic risk scores in genomic medicine practices: a systematic review
publisher	Springer
publishDate	2022
url	http://eprints.um.edu.my/41252/
_version_	1778161647722954752
score	13.211869

The clinical utility of polygenic risk scores in genomic medicine practices: A systematic review

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