{"title":"下一代测序中诊断的社会塑造","authors":"J. Kuiper, P. Borry, D. Vears, I. van Hoyweghen","doi":"10.1080/14636778.2020.1853514","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":54724,"journal":{"name":"New Genetics and Society","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2021-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"4","resultStr":"{\"title\":\"The social shaping of a diagnosis in Next Generation Sequencing\",\"authors\":\"J. Kuiper, P. Borry, D. Vears, I. van Hoyweghen\",\"doi\":\"10.1080/14636778.2020.1853514\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":54724,\"journal\":{\"name\":\"New Genetics and Society\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2021-01-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"New Genetics and Society\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/14636778.2020.1853514\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"BIOTECHNOLOGY & APPLIED MICROBIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"New Genetics and Society","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/14636778.2020.1853514","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
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 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.
期刊介绍:
New Genetics and Society: Critical Studies of Contemporary Biosciences is a world-leading journal which:
-Provides a focus for interdisciplinary and multi-disciplinary, leading-edge social science research on the new genetics and related biosciences;
-Publishes theoretical and empirical contributions reflecting its multi-faceted development;
-Provides an international platform for critical reflection and debate;
-Is an invaluable research resource for the many related professions, including health, medicine and the law, wishing to keep abreast of fast changing developments in contemporary biosciences.
New Genetics and Society publishes papers on the social aspects of the new genetics (widely defined), including gene editing, genomics, proteomics, epigenetics and systems biology; and the rapidly developing biosciences such as biomedical and reproductive therapies and technologies, xenotransplantation, stem cell research and neuroscience. Our focus is on developing a better understanding of the social, legal, ethical and policy aspects, including their local and global management and organisation.