ReviewEuropean journal of human genetics : EJHG2025
Unpacking the notion of "serious" genetic conditions: towards implementation in reproductive decision-making?
Review in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed.
- Drawing lines: how the public defines "Serious" genetic conditions for reproductive testing.European journal of human genetics : EJHG · 2026Article
- Considering seriousness in preconception carrier screening: a framework to support policy deliberation.Journal of community genetics · 2026Review
- Personal values, professional responsibilities and non-invasive prenatal testing: reflections of genetic counsellors in Australia.Journal of community genetics · 2026Article
- Navigating the use of preimplantation genetic testing: a retrospective analysis of 15 years of the Dutch National Indications Committee for PGT.European journal of human genetics : EJHG · 2026Article
- Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar.Human genomics · 2026Article
- Prenatal therapies: a Points to Consider framework for responsible innovation.BMC medical genomics · 2025Review
- The stigma of seriousness: views of genome editing scientists and policy professionals on defining serious disease.Journal of community genetics · 2025Article
- Reevaluating 'seriousness' in genetic conditions: balancing clinical criteria and lived experiences.European journal of human genetics : EJHG · 2025Article
- Interpretative phenomenological analysis and genetic counseling.Journal of genetic counseling · 2025Review
- Preclinical research (on rare diseases): we need to talk about health equity.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening.European journal of human genetics : EJHG · 2025Article
- Editorial: severity in a genomic age.European journal of human genetics : EJHG · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.