Unpacking the notion of "serious" genetic conditions: towards implementation in reproductive decision-making?

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Tác giả: Felicity Boardman, Erika Kleiderman, Bartha Maria Knoppers, Anne-Marie Laberge, Ainsley J Newson, Vardit Ravitsky

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : European journal of human genetics : EJHG , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 709101

 The notion of a "serious" genetic condition is commonly used in clinical contexts, laws, and policies to define and delineate both the permissibility of and, access to, reproductive genomic technologies. Yet, the notion lacks conceptual and operational clarity, which can lead to its inconsistent appraisal and application. A common understanding of the relevant considerations of "serious" is lacking. This article addresses this conceptual gap. We begin by outlining existing distinctions around the notion of "serious" that will factor into its appraisal and need to be navigated, in the context of prenatal testing and the use of reproductive genomic technologies. These include tensions between clinical care and population health
  the impact of categorizing a condition as "serious"
  and the role of perception of quality of life. We then propose a set of four core dimensions and four procedural elements that can serve as a conceptual tool to prompt a mapping of the features of seriousness in any given context. Ultimately, consideration of these core dimensions and procedural elements may lead to improvements in the quality and consistency of decision-making where the seriousness of a genetic condition is a pivotal component at both a policy and practice level.
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