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

Abstract

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.

How are uncertain prenatal genetic results perceived and managed two years after they were received? A qualitative interview study

“…In the first round of interviews (Lou, Petersen, et al., 2020), most couples did not remember the specific name of the CNV, but often referred to it as something extra or something missing on a particular chromosome. What they did remember (and worry about), however, were the specific conditions that had been presented to them during the genetic counseling, such as risk of learning disability or obesity.…”

“…For most participants, the first interview was conducted shortly after their child's birth and a follow‐up interview was conducted 21–26 months after first receiving the CNV result. Analyses of the consultations (Lou, Petersen, et al., 2020) and of the first round of interviews (Lou, Lomborg, et al., 2020) have been published elsewhere. To answer the specific aim of the present sub‐study, the analyses draw only on materials from the semi‐structured follow‐up interviews.…”

“…This was part of the formal interview guide (for example, see introductory questions in the interview guide, Table ) and part of informal conversations before and after the actual interviews. All participants who expressed interest have been sent the previously published manuscripts (Lou, Lomborg, et al., 2020; Lou, Petersen, et al., 2020), and their feedback was uniformly positive. Future publications will also be shared with the participants.…”

“…For example, while an SL such as 22q11.2 duplication may cause intellectual disability, autism, and heart malformations (Olsen et al., 2018), most will have neither of these symptoms (Rosenfeld et al., 2013). Several studies have shown that communicating and understanding uncertain CNV results can be challenging for both patients and professionals (Hui et al., 2020; Lou et al., 2020; Rubel et al., 2017). Thus, there is continuous scientific, ethical, and clinical debate about whether, how, and when uncertain CNV results should be reported prenatally (Brabbing‐Goldstein et al., 2018; Brew et al., 2019; Horn & Parker, 2018).…”

“…Nevertheless, parents may be unprepared for the complexity and potential reach of information that points to potential future issues with their child's development. Parents have reported feeling worried and anxious upon receiving an uncertain CNV result and may struggle with how to interpret and use this information in their context (Bernhardt et al., 2013; Lou, Petersen, et al., 2020; Walser et al., 2016; Werner‐Lin, Barg, et al., 2016). For some, this includes considerations of whether to continue or terminate the pregnancy.…”