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Rigshospitalet - a part of Copenhagen University Hospital
E-pub ahead of print

How do geneticists and prospective parents interpret and negotiate an uncertain prenatal genetic result? An analysis of clinical interactions

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark

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  1. Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation

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  2. Implementation of exome sequencing in fetal diagnostics - data and experiences from a tertiary center in Denmark

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  3. "It's probably nothing, but…" Couples' experiences of pregnancy following an uncertain prenatal genetic result

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  4. Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review

    Research output: Contribution to journalJournal articleResearchpeer-review

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Variants of unknown significance (VUS) and susceptibility loci (SL) are a challenge in prenatal genetic counseling. The aim of this study was to explore how such uncertain genetic results are communicated, negotiated, and made meaningful by genetics healthcare providers and couples in the actual clinical setting where results are delivered. The study was based on an anthropological approach and the material consisted of observations and audio-recordings from 16 purposively sampled genetic counseling sessions where prenatal testing had identified an inherited or de novo VUS or SL result. Field notes and transcripts from audio-recordings were analyzed using thematic analysis. The analysis identified a number of specific interpretations and strategies that clinical geneticists and couples collectively used for dealing with the ambiguity of the result. Thus, the analysis resulted in a total of three themes, each with 3-4 subthemes. The theme 'Setting the scene' describes the three-stage structure of the consultation. The theme 'Dealing with uncertainty' includes 'normalizing strategies' that emphasized the inherent uncertainty in human life in general and 'contextualizing strategies' that placed the result in relation to the surrounding society, where technological developments lead to new and unforeseen challenges. The theme 'Regaining control' includes interpretations that made the knowledge useful by focusing on the value of being prepared for potential, future challenges. Other strategies were to book an extra scan-to reconfirm fetal structural health and to reconnect to the pregnancy. Finally, inquiring about the sex was clearly a way for the couple to signal their investment in the pregnancy. Based on the analysis, we propose that these interpretations served to transform and reduce ambiguity through a process of reconfiguring the biomedical information into knowledge that resonated with the couples' lifeworlds. In this process, both geneticist and couples drew on wider social and moral concerns about uncertainty and responsibility.

Original languageEnglish
JournalJournal of Genetic Counseling
ISSN1059-7700
DOIs
Publication statusE-pub ahead of print - 26 May 2020

    Research areas

  • communication, decision-making, genetic counselors, parents, prenatal diagnosis, variant of uncertain significance

ID: 60287219