Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: James, Jennifer Elyse, Riddle, Leslie, Koenig, Barbara Ann, Joseph, Galen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8555816/
https://www.ncbi.nlm.nih.gov/pubmed/34714858
http://dx.doi.org/10.1371/journal.pone.0258571
_version_ 1784592054654861312
author James, Jennifer Elyse
Riddle, Leslie
Koenig, Barbara Ann
Joseph, Galen
author_facet James, Jennifer Elyse
Riddle, Leslie
Koenig, Barbara Ann
Joseph, Galen
author_sort James, Jennifer Elyse
collection PubMed
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 Online
Article
Text
id pubmed-8555816
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Public Library of Science
record_format MEDLINE/PubMed
spelling pubmed-85558162021-10-30 The limits of personalization in precision medicine: Polygenic risk scores and racial categorization in a precision breast cancer screening trial James, Jennifer Elyse Riddle, Leslie Koenig, Barbara Ann Joseph, Galen PLoS One Research Article 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. Public Library of Science 2021-10-29 /pmc/articles/PMC8555816/ /pubmed/34714858 http://dx.doi.org/10.1371/journal.pone.0258571 Text en © 2021 James et al 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 use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
James, Jennifer Elyse
Riddle, Leslie
Koenig, Barbara Ann
Joseph, Galen
The limits of personalization in precision medicine: Polygenic risk scores and racial categorization in a precision breast cancer screening trial
title 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_short 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
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8555816/
https://www.ncbi.nlm.nih.gov/pubmed/34714858
http://dx.doi.org/10.1371/journal.pone.0258571
work_keys_str_mv AT jamesjenniferelyse thelimitsofpersonalizationinprecisionmedicinepolygenicriskscoresandracialcategorizationinaprecisionbreastcancerscreeningtrial
AT riddleleslie thelimitsofpersonalizationinprecisionmedicinepolygenicriskscoresandracialcategorizationinaprecisionbreastcancerscreeningtrial
AT koenigbarbaraann thelimitsofpersonalizationinprecisionmedicinepolygenicriskscoresandracialcategorizationinaprecisionbreastcancerscreeningtrial
AT josephgalen thelimitsofpersonalizationinprecisionmedicinepolygenicriskscoresandracialcategorizationinaprecisionbreastcancerscreeningtrial
AT jamesjenniferelyse limitsofpersonalizationinprecisionmedicinepolygenicriskscoresandracialcategorizationinaprecisionbreastcancerscreeningtrial
AT riddleleslie limitsofpersonalizationinprecisionmedicinepolygenicriskscoresandracialcategorizationinaprecisionbreastcancerscreeningtrial
AT koenigbarbaraann limitsofpersonalizationinprecisionmedicinepolygenicriskscoresandracialcategorizationinaprecisionbreastcancerscreeningtrial
AT josephgalen limitsofpersonalizationinprecisionmedicinepolygenicriskscoresandracialcategorizationinaprecisionbreastcancerscreeningtrial