The social shaping of a diagnosis in Next Generation Sequencing

Although Next Generation Sequencing (NGS) has increased our ability to test and diagnose, its results are often not clear-cut and require a complex interpretation and negotiation process by both healthcare professionals and patients involved. In this paper, we explore how diagnoses identified throug...

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Main Authors: Janneke M.L. Kuiper, Pascal Borry, Danya F. Vears, Ine Van Hoyweghen
Format: Article
Language:English
Published: Taylor & Francis Group 2021-10-01
Series:New Genetics and Society
Subjects:
Online Access:http://dx.doi.org/10.1080/14636778.2020.1853514
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author Janneke M.L. Kuiper
Pascal Borry
Danya F. Vears
Ine Van Hoyweghen
author_facet Janneke M.L. Kuiper
Pascal Borry
Danya F. Vears
Ine Van Hoyweghen
author_sort Janneke M.L. Kuiper
collection DOAJ
description Although Next Generation Sequencing (NGS) has increased our ability to test and diagnose, its results are often not clear-cut and require a complex interpretation and negotiation process by both healthcare professionals and patients involved. In this paper, we explore how diagnoses identified through NGS are socially shaped under influence of the broader social context. Using an analytical framework stemming from the sociology of health and illness and science and technology studies, with a focus on the construction of diagnosis and the role of uncertainty in medicine, we analyze the existing corpus of literature on NGS diagnostic practices. We show how in this early implementation phase of NGS, in which standardization efforts are not yet solidified, the boundary struggles around diagnoses obtained through NGS are particularly visible. We discuss the different steps in the diagnosis shaping process and what it subsequently entails to give and a receive a diagnosis using NGS.
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spelling doaj.art-891dd941b3b54ed2b30864fba434bb172023-09-19T15:22:18ZengTaylor & Francis GroupNew Genetics and Society1463-67781469-99152021-10-0140442544810.1080/14636778.2020.18535141853514The social shaping of a diagnosis in Next Generation SequencingJanneke M.L. Kuiper0Pascal Borry1Danya F. Vears2Ine Van Hoyweghen3Life Sciences and Society Lab, Centre for Sociological Research, KU LeuvenCentre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU LeuvenMelbourne Law School, University of MelbourneLife Sciences and Society Lab, Centre for Sociological Research, KU LeuvenAlthough Next Generation Sequencing (NGS) has increased our ability to test and diagnose, its results are often not clear-cut and require a complex interpretation and negotiation process by both healthcare professionals and patients involved. In this paper, we explore how diagnoses identified through NGS are socially shaped under influence of the broader social context. Using an analytical framework stemming from the sociology of health and illness and science and technology studies, with a focus on the construction of diagnosis and the role of uncertainty in medicine, we analyze the existing corpus of literature on NGS diagnostic practices. We show how in this early implementation phase of NGS, in which standardization efforts are not yet solidified, the boundary struggles around diagnoses obtained through NGS are particularly visible. We discuss the different steps in the diagnosis shaping process and what it subsequently entails to give and a receive a diagnosis using NGS.http://dx.doi.org/10.1080/14636778.2020.1853514diagnosisnext generation sequencinguncertaintygenomics
spellingShingle Janneke M.L. Kuiper
Pascal Borry
Danya F. Vears
Ine Van Hoyweghen
The social shaping of a diagnosis in Next Generation Sequencing
New Genetics and Society
diagnosis
next generation sequencing
uncertainty
genomics
title The social shaping of a diagnosis in Next Generation Sequencing
title_full The social shaping of a diagnosis in Next Generation Sequencing
title_fullStr The social shaping of a diagnosis in Next Generation Sequencing
title_full_unstemmed The social shaping of a diagnosis in Next Generation Sequencing
title_short The social shaping of a diagnosis in Next Generation Sequencing
title_sort social shaping of a diagnosis in next generation sequencing
topic diagnosis
next generation sequencing
uncertainty
genomics
url http://dx.doi.org/10.1080/14636778.2020.1853514
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