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Updated: Jun 17, 2025

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Unpacking the notion of "serious" genetic conditions: towards implementation in reproductive decision-making?
Erika Kleiderman1, Felicity Boardman2, Ainsley J Newson3
1Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, QC, Canada. erika.kleiderman.1@umontreal.ca.
Abstract:
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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