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Polygenic risk score for embryo selection—not ready for prime time

Numerous chronic diseases have a substantial hereditary component. Recent advances in human genetics have allowed the extent of this to be quantified via genome-wide association studies, producing polygenic risk scores (PRS), which can then be applied to individuals to estimate their risk of develop...

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Autores principales: Polyakov, Alex, Amor, David J, Savulescu, Julian, Gyngell, Christopher, Georgiou, Ektoras X, Ross, Vanessa, Mizrachi, Yossi, Rozen, Genia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9527452/
https://www.ncbi.nlm.nih.gov/pubmed/35852518
http://dx.doi.org/10.1093/humrep/deac159
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author Polyakov, Alex
Amor, David J
Savulescu, Julian
Gyngell, Christopher
Georgiou, Ektoras X
Ross, Vanessa
Mizrachi, Yossi
Rozen, Genia
author_facet Polyakov, Alex
Amor, David J
Savulescu, Julian
Gyngell, Christopher
Georgiou, Ektoras X
Ross, Vanessa
Mizrachi, Yossi
Rozen, Genia
author_sort Polyakov, Alex
collection PubMed
description Numerous chronic diseases have a substantial hereditary component. Recent advances in human genetics have allowed the extent of this to be quantified via genome-wide association studies, producing polygenic risk scores (PRS), which can then be applied to individuals to estimate their risk of developing a disease in question. This technology has recently been applied to embryo selection in the setting of IVF and preimplantation genetic testing, with limited data to support its utility. Furthermore, there are concerns that the inherent limitations of PRS makes it ill-suited for use as a screening test in this setting. There are also serious ethical and moral questions associated with this technology that are yet to be addressed. We conclude that further research and ethical reflection are required before embryo selection based on PRS is offered to patients outside of the research setting.
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spelling pubmed-95274522022-10-03 Polygenic risk score for embryo selection—not ready for prime time Polyakov, Alex Amor, David J Savulescu, Julian Gyngell, Christopher Georgiou, Ektoras X Ross, Vanessa Mizrachi, Yossi Rozen, Genia Hum Reprod Opinion Numerous chronic diseases have a substantial hereditary component. Recent advances in human genetics have allowed the extent of this to be quantified via genome-wide association studies, producing polygenic risk scores (PRS), which can then be applied to individuals to estimate their risk of developing a disease in question. This technology has recently been applied to embryo selection in the setting of IVF and preimplantation genetic testing, with limited data to support its utility. Furthermore, there are concerns that the inherent limitations of PRS makes it ill-suited for use as a screening test in this setting. There are also serious ethical and moral questions associated with this technology that are yet to be addressed. We conclude that further research and ethical reflection are required before embryo selection based on PRS is offered to patients outside of the research setting. Oxford University Press 2022-07-19 /pmc/articles/PMC9527452/ /pubmed/35852518 http://dx.doi.org/10.1093/humrep/deac159 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of European Society of Human Reproduction and Embryology. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Opinion
Polyakov, Alex
Amor, David J
Savulescu, Julian
Gyngell, Christopher
Georgiou, Ektoras X
Ross, Vanessa
Mizrachi, Yossi
Rozen, Genia
Polygenic risk score for embryo selection—not ready for prime time
title Polygenic risk score for embryo selection—not ready for prime time
title_full Polygenic risk score for embryo selection—not ready for prime time
title_fullStr Polygenic risk score for embryo selection—not ready for prime time
title_full_unstemmed Polygenic risk score for embryo selection—not ready for prime time
title_short Polygenic risk score for embryo selection—not ready for prime time
title_sort polygenic risk score for embryo selection—not ready for prime time
topic Opinion
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9527452/
https://www.ncbi.nlm.nih.gov/pubmed/35852518
http://dx.doi.org/10.1093/humrep/deac159
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