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Beyond severity: utility as a criterion for setting the scope of RGCS.
Dive, Lisa; Laberge, Anne-Marie; Freeman, Lucinda; Bunnik, Eline M.
Afiliación
  • Dive L; Graduate School of Health, University of Technology Sydney, Sydney, NSW, Australia. lisa.dive@uts.edu.au.
  • Laberge AM; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada.
  • Freeman L; Graduate School of Health, University of Technology Sydney, Sydney, NSW, Australia.
  • Bunnik EM; Department of Medical Ethics, Philosophy and History of Medicine, Erasmus MC, Rotterdam, The Netherlands.
Eur J Hum Genet ; 2024 May 29.
Article en En | MEDLINE | ID: mdl-38811715
ABSTRACT
Reproductive genetic carrier screening (RGCS) allows prospective parents to identify and act upon their chances of having a child with a genetic condition. In deciding which genetic conditions to include in RGCS, severity is often used as a criterion. However, the concept is inherently complex, subjective and multidimensional, and determinations of severity will remain intractably contested. We propose the concept of utility as a criterion for setting the scope of RGCS, and put forward two central arguments for doing so. First, utility is a more appropriate and effective concept as it responds to context and makes an explicit connection between the purpose of RGCS and the value of information obtained for that

purpose:

namely, to facilitate reproductive decision-making. Utility comprises both clinical and personal utility, and varies according to the availability and accessibility of reproductive options, including pre-implantation genetic testing, prenatal genetic diagnosis, and termination of pregnancy. Second, there are ethical reasons for preferring utility over severity. Utility is a property of the information gleaned from RGCS, while severity is a property of a genetic condition or of an instance of this condition in a person. While consideration of the severity of genetic conditions is not lost when focusing on utility, the need to rely on value judgements regarding the quality of life of people who live with genetic conditions is circumvented. Therefore, utility should replace severity as justification for the inclusion of genetic conditions in RGCS programmes.

Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Australia

Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Australia