Kleiderman Erika, Boardman Felicity, Newson Ainsley J, Laberge Anne-Marie, Knoppers Bartha Maria, Ravitsky Vardit
Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, QC, Canada.
Division of Health Sciences, Warwick Medical School, University of Warwick, Coventry, UK.
Eur J Hum Genet. 2025 Mar;33(2):158-166. doi: 10.1038/s41431-024-01681-0. Epub 2024 Aug 10.
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.
“严重”遗传疾病的概念在临床环境、法律和政策中普遍用于定义和界定生殖基因组技术的可允许性及获取途径。然而，这一概念在概念和操作层面缺乏明晰性，可能导致对其评估和应用不一致。对于“严重”相关考量缺乏共同理解。本文旨在填补这一概念空白。我们首先概述围绕“严重”概念的现有区分，这些区分将影响对其的评估且在产前检测及生殖基因组技术使用的背景下需要加以梳理。这些包括临床护理与群体健康之间的紧张关系；将一种疾病归类为“严重”的影响；以及生活质量认知的作用。然后，我们提出一组四个核心维度和四个程序要素，可作为一种概念工具，促使在任何给定背景下描绘严重性的特征。最终，考虑这些核心维度和程序要素可能会提高决策的质量和一致性，在遗传疾病的严重性在政策和实践层面都是关键组成部分的情况下。
