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...
Autores principales: | , , , |
---|---|
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 |