Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult‐onset findings from chromosomal‐microarray‐analysis

Abstract

Background Chromosomal‐microarray‐analysis (CMA) can identify variants of uncertain clinical significance, susceptibility‐loci for neurodevelopmental conditions, and risk for adult‐onset conditions. We explored choices made by couples undergoing prenatal CMA, their understanding of these findings, reasons for and against receiving them, and whether they believe parents or professionals should decide which are disclosed. Methods Semi‐structured interviews were conducted with women (n = 27) or their partners (n = 15) during the week following prenatal CMA testing and analyzed using grounded theory. Results Over half the interviewees (55%) recalled at least two of the three types of CMA results they chose whether to receive. Sixty‐four percent found the choice simple, whereas 36% found it difficult. All participants could clearly explain their choices, which were based on the perceived actionability and psychological impact of the information. Sixty percent viewed their choice favorably, whereas ~21% would have preferred clinicians to decide for them. More women than men, and more decisive than indecisive participants supported parental choice. Conclusion Overall, expectant parents can make informed choices about which uncertain findings about their fetuses they wish to receive, and value the opportunity to tailor results to their values and wishes. Arguments presented provide the basis for a decision‐aid tool for expecting parents.

Clinicians’ attitudes towards parental choice in the era of advanced genomic tests in pregnancy

“…HCPs believed that such information is the least actionable, and highly likely to cause anxiety. This is in‐line with previous studies showing that VUS is the least desired finding when choice is offered, 14 and that parents acknowledge its non‐actionability and emotional burden 17 . Complete nondisclosure was largely not supported based on a fear of paternalism, the possibility of future reclassification and fear of litigation.…”

“…It is therefore unsurprising that HCPs who rejected parental choice felt that parents cannot understand the complexities of these findings, whereas supporters believed that parents comprehend the difference between the various types of findings and make informed decisions. This adds to empirical data showing that parents could largely understand the differences between various types of CMA findings 17 …”

“…Empirical data from the Netherlands demonstrated that parents appreciate individualized choice in the setting of prenatal testing 21–23 . A recent study that focused on pregnant couples that had to choose what type of CMA findings they wanted to receive, showed that over half the participants supported parental choice 17 . A few empirical studies, from various countries, showed that when offered a choice, more than half of women choose extended information, whereas others prefer to receive only pathogenic findings 14,24–26 …”

“…The topic guide was developed based on existing research 14,16,17 and the clinical experience of the research team. Topic guide was adapted as themes emerged from previous interviews (Figure ).…”

Fragmented responsibility: views of Israeli HCPs regarding patient recontact following variant reclassification

“…The need to establish efficient protocols for recontacting is expected to increase with the proliferation of VUS and their reclassification, requiring a uniform standard of care. The sparse guidelines on communicating VUS that were created recently in the Israeli health system relate mainly to prenatal genetic diagnosis (Millo et al 2021), but there is no mention of recontacting (Koifman et al 2016). Our findings recapitulate and extend those of Carrieri et al (2017Carrieri et al ( , 2019 concerning the lack of, and need for, clear lines of responsibility for initiating recontact.…”