How should severity be understood in the context of reproductive genetic carrier screening?
Reproductive genetic carrier screening provides information about people's chance of having children with certain genetic conditions. Severity of genetic conditions is an important criterion for their inclusion in carrier screening programmes. However, the concept of severity is conceptually complex...
| Publicado en: | Bioethics Vol. 37; no. 4; pp. 359 - 367 |
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| Autores principales: | , , , |
| Formato: | Artículo |
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Wiley-Blackwell
May2023
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| Materias: | |
| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ssf&AN=162942161&site=ehost-live header: @attributes: shortDbName: ssf uiTerm: 162942161 longDbName: Social Sciences Full Text (H.W. Wilson) uiTag: AN controlInfo: bkinfo: jinfo: jid: 02699702 6PJ jtl: Bioethics issn: 02699702 maglogo: Y pubinfo: dt: May2023 vid: 37 iid: 4 pid: 480 pub: Wiley-Blackwell artinfo: ui: 162942161 10.1111/bioe.13136 ppf: 359 ppct: 8 formats: tig: atl: How should severity be understood in the context of reproductive genetic carrier screening? aug: au: Dive, Lisa Archibald, Alison D. Freeman, Lucinda Newson, Ainsley J. affil: Sydney Health Ethics, The University of Sydney, Sydney New South Wales,, Australia Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne Victoria,, Australia School of Women's and Children's Health, University of New South Wales, Sydney New South Wales,, Australia su: Genetic testing Decision making Reproductive health Bioethics Genetic carriers Genotypes sug: subj: Genetic testing Decision making Reproductive health Bioethics Research and Development in the Physical, Engineering, and Life Sciences (except Biotechnology) Medical Laboratories Genetic carriers Genotypes keyword: bioethics genetic carrier screening reproduction seriousness severity bioethics genetic carrier screening reproduction seriousness severity ab: Reproductive genetic carrier screening provides information about people's chance of having children with certain genetic conditions. Severity of genetic conditions is an important criterion for their inclusion in carrier screening programmes. However, the concept of severity is conceptually complex and underspecified. We analyse why severity is an important concept in carrier screening and for reproductive decision‐making and show that assessments of severity can also have normative societal implications. While some genetic conditions are unambiguously associated with a high degree of suffering, there are many factors that contribute to how severe a condition is perceived to be, and perspectives will vary. Attempts to classify genetic conditions according to their severity tend to prioritise biomedical information at the expense of incorporating qualitative aspects of the impact of genetic conditions on people's lives. Further complexity arises because some genotypes can present with variable phenotypes and because some conditions are not always experienced in the same way by all people who have them. To acknowledge this complexity, we argue that an understanding of severity needs to distinguish between the severity of a genetic condition—requiring a generalised approach for purposes of policy development and programme design—and the severity of an instance of a genetic condition in a particular person. Families making reproductive decisions also require access to diverse experiences of the qualitative aspects of living with genetic conditions. As a result, reproductive carrier screening programmes must recognise and respond to the complexity inherent in determining the severity of genetic conditions. pubtype: Academic Journal doctype: Article src: R language: English refInfo: copyright: @attributes: flag: N holdings: @attributes: islocal: N |
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