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

被引:4
|
作者
Kleiderman, Erika [1 ]
Boardman, Felicity [2 ]
Newson, Ainsley J. [3 ]
Laberge, Anne-Marie [1 ,4 ,5 ]
Knoppers, Bartha Maria [6 ]
Ravitsky, Vardit [1 ,7 ]
机构
[1] Univ Montreal, Sch Publ Hlth, Dept Social & Prevent Med, Montreal, PQ, Canada
[2] Univ Warwick, Warwick Med Sch, Div Hlth Sci, Coventry, England
[3] Univ Sydney, Fac Med & Hlth, Sydney Sch Publ Hlth, Sydney Hlth Eth, Sydney, NSW, Australia
[4] Ctr Hosp Univ St Justine, Dept Pediat, Med Genet Div, Montreal, PQ, Canada
[5] Univ Montreal, Montreal, PQ, Canada
[6] McGill Univ, Fac Med, Ctr Genom & Policy, Dept Human Genet, Montreal, PQ, Canada
[7] Hastings Ctr, Garrison, NY USA
基金
英国惠康基金; 加拿大健康研究院;
关键词
QUALITY-OF-LIFE; EXPERIENTIAL KNOWLEDGE; DISABILITY; ATTITUDES; SEVERITY; PEOPLE; INDIVIDUALS; DISORDERS; IDENTITY; FUTURE;
D O I
10.1038/s41431-024-01681-0
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:158 / 166
页数:9
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