Εξειδίκευση τύπου :	Άρθρο σε επιστημονικό περιοδικό
Τίτλος:	The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review
Δημιουργός/Συγγραφέας:	Kumuthini, Judit Zick, Brittany Balasopoulou, Angeliki Chalikiopoulou, Constantina Dandara, Collet El-Kamah, Ghada Findley, Laura [EL] Κατσίλα, Θεοδώρα[EN] Katsila, Theodora Li, Rongling Maceda, Ebner Bon Monye, Henrietta Rada, Gabriel Thong, Meow-Keong Wanigasekera, Thilina Kennel, Hannah Marimuthu, Veeramani Williams, Marc S Al-Mulla, Fahd Abramowicz, Marc
Ημερομηνία:	2022-11
Γλώσσα:	Αγγλικά
ISSN:	0340-6717 1432-1203
DOI:	10.1007/s00439-022-02452-x
Άλλο:	35488921
Περίληψη:	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.
Τίτλος πηγής δημοσίευσης:	Human genetics
Τόμος/Κεφάλαιο:	141
Τεύχος:	11
Θεματική Κατηγορία:	[EL] Γενετική[EN] Genetics [EL] Νεοπλάσματα. Όγκοι. Ογκολογία (περ. Καρκίνος, κακινογόνες ουσίες)[EN] Neoplasms. Tumors. Oncology (Incl.cancer, carcinogens) [EL] Βιοπληροφορική[EN] Bioinformatics
Λέξεις-Κλειδιά:	Genomics Humans Multifactorial Inheritance Risk Factors Genetic Predisposition to Disease Genomic Medicine
EU Grant:	H3ABioNet
EU Grant identifier:	U24HG006941
Κάτοχος πνευματικών δικαιωμάτων:	© 2022 The Author(s)
Όροι και προϋποθέσεις δικαιωμάτων:	This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.
Ηλεκτρονική διεύθυνση στον εκδότη (link):	https://link.springer.com/article/10.1007/s00439-022-02452-x#author-information
Εμφανίζεται στις συλλογές:	Ινστιτούτο Χημικής Βιολογίας - Επιστημονικό έργο