2026/03/25 by Mark B. Anderson, Emma Cooke, Karen Thorpe +1
Medicine · Biochemistry, Genetics and Molecular Biology · #Prenatal Screening and Diagnostics #BRCA gene mutations in cancer #Genomics and Rare Diseases
paper · doi:10.1111/ajo.70119
BACKGROUND: Expectant parents report negative experiences of receiving prenatal screening outcomes that indicate a higher-than-expected risk of a genetic condition or anomaly-an unexpected result. Despite clinicians' key role in delivering prenatal screening results, there is limited research on their perspectives regarding their own experiences, knowledge and access to resources and referral information. AIMS: This study aimed to explore clinicians' experiences discussing and delivering genetic screening results and their access to resources. MATERIALS AND METHODS: The present study addresses this gap through a mixed-methods study comprising a cross-sectional survey (n = 51) and qualitative interviews with a subset of respondents (n = 12) to explore their experiences in depth. Quantitative analyses provided descriptive statistics and tested the association of support resources with clinicians' confidence and perceived challenges. RESULTS: Only 55% of clinicians were confident explaining screening and 59% when delivering unexpected results. Only 41% reported they had adequate resources for delivering unexpected results, and 53% had not directed patients to any support services for prenatal screening decision-making in the last 12 months. Resource access was significantly associated with increased confidence (p = 0.029) and decreased perceived challenge (p = 0.013). Qualitative data were analysed through reflexive thematic analysis. Findings show that clinicians are concerned about their knowledge limitations in the context of evolving testing modalities, challenged by fragmented care and communication, and commonly conflate unexpected results with bad news. CONCLUSIONS: Structural and ideological challenges contextualise clinicians' lack of confidence in delivering unexpected results. Clinicians' difficulties and varied approaches to accessing resources and referring patients highlight a need for the provision of education and standardised pathways to improve the experience for expectant parents.