The limits of personalization in precision medicine: Polygenic risk scores and racial categorization in a precision breast cancer screening trial.

Population-based genomic screening is at the forefront of a new approach to disease prevention. Yet the lack of diversity in genome wide association studies and ongoing debates about the appropriate use of racial and ethnic categories in genomics raise key questions about the translation of genomic...

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Autores principales:	Jennifer Elyse James, Leslie Riddle, Barbara Ann Koenig, Galen Joseph
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/1007395c3bbf4608a8d7e1839c41bdab
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spelling	oai:doaj.org-article:1007395c3bbf4608a8d7e1839c41bdab2021-12-02T20:16:26ZThe limits of personalization in precision medicine: Polygenic risk scores and racial categorization in a precision breast cancer screening trial.1932-620310.1371/journal.pone.0258571https://doaj.org/article/1007395c3bbf4608a8d7e1839c41bdab2021-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0258571https://doaj.org/toc/1932-6203Population-based genomic screening is at the forefront of a new approach to disease prevention. Yet the lack of diversity in genome wide association studies and ongoing debates about the appropriate use of racial and ethnic categories in genomics raise key questions about the translation of genomic knowledge into clinical practice. This article reports on an ethnographic study of a large pragmatic clinical trial of breast cancer screening called WISDOM (Women Informed to Screen Depending On Measures of Risk). Our ethnography illuminates the challenges of using race or ethnicity as a risk factor in the implementation of precision breast cancer risk assessment. Our analysis provides critical insights into how categories of race, ethnicity and ancestry are being deployed in the production of genomic knowledge and medical practice, and key challenges in the development and implementation of novel Polygenic Risk Scores in the research and clinical applications of this emerging science. Specifically, we show how the conflation of social and biological categories of difference can influence risk prediction for individuals who exist at the boundaries of these categories, affecting the perceptions and practices of scientists, clinicians, and research participants themselves. Our research highlights the potential harms of practicing genomic medicine using under-theorized and ambiguous categories of race, ethnicity, and ancestry, particularly in an adaptive, pragmatic trial where research findings are applied in the clinic as they emerge. We contribute to the expanding literature on categories of difference in post-genomic science by closely examining the implementation of a large breast cancer screening study that aims to personalize breast cancer risk using both common and rare genomic markers.Jennifer Elyse JamesLeslie RiddleBarbara Ann KoenigGalen JosephPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 16, Iss 10, p e0258571 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Jennifer Elyse James Leslie Riddle Barbara Ann Koenig Galen Joseph The limits of personalization in precision medicine: Polygenic risk scores and racial categorization in a precision breast cancer screening trial.
description	Population-based genomic screening is at the forefront of a new approach to disease prevention. Yet the lack of diversity in genome wide association studies and ongoing debates about the appropriate use of racial and ethnic categories in genomics raise key questions about the translation of genomic knowledge into clinical practice. This article reports on an ethnographic study of a large pragmatic clinical trial of breast cancer screening called WISDOM (Women Informed to Screen Depending On Measures of Risk). Our ethnography illuminates the challenges of using race or ethnicity as a risk factor in the implementation of precision breast cancer risk assessment. Our analysis provides critical insights into how categories of race, ethnicity and ancestry are being deployed in the production of genomic knowledge and medical practice, and key challenges in the development and implementation of novel Polygenic Risk Scores in the research and clinical applications of this emerging science. Specifically, we show how the conflation of social and biological categories of difference can influence risk prediction for individuals who exist at the boundaries of these categories, affecting the perceptions and practices of scientists, clinicians, and research participants themselves. Our research highlights the potential harms of practicing genomic medicine using under-theorized and ambiguous categories of race, ethnicity, and ancestry, particularly in an adaptive, pragmatic trial where research findings are applied in the clinic as they emerge. We contribute to the expanding literature on categories of difference in post-genomic science by closely examining the implementation of a large breast cancer screening study that aims to personalize breast cancer risk using both common and rare genomic markers.
format	article
author	Jennifer Elyse James Leslie Riddle Barbara Ann Koenig Galen Joseph
author_facet	Jennifer Elyse James Leslie Riddle Barbara Ann Koenig Galen Joseph
author_sort	Jennifer Elyse James
title	The limits of personalization in precision medicine: Polygenic risk scores and racial categorization in a precision breast cancer screening trial.
title_short	The limits of personalization in precision medicine: Polygenic risk scores and racial categorization in a precision breast cancer screening trial.
title_full	The limits of personalization in precision medicine: Polygenic risk scores and racial categorization in a precision breast cancer screening trial.
title_fullStr	The limits of personalization in precision medicine: Polygenic risk scores and racial categorization in a precision breast cancer screening trial.
title_full_unstemmed	The limits of personalization in precision medicine: Polygenic risk scores and racial categorization in a precision breast cancer screening trial.
title_sort	limits of personalization in precision medicine: polygenic risk scores and racial categorization in a precision breast cancer screening trial.
publisher	Public Library of Science (PLoS)
publishDate	2021
url	https://doaj.org/article/1007395c3bbf4608a8d7e1839c41bdab
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The limits of personalization in precision medicine: Polygenic risk scores and racial categorization in a precision breast cancer screening trial.

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