“It's both a terrifying and a powerful position to be in”: A qualitative study exploring clinician experiences and perspectives on providing publicly funded fetal exome sequencing.

Abstract

Objective Genomics has improved etiological diagnosis for fetal structural anomalies. We aimed to explore the experiences and perspectives of clinicians involved with the delivery of a state-wide public fetal exome sequencing (FES) service in Australia. Method This qualitative study was developed using a pragmatism framework. A multidisciplinary cohort of clinicians across all tertiary fetal medicine units in Victoria were interviewed. Inductive content analysis was used to understand the experiences, impact, and utility of FES. Results Eight clinician interviews were analysed. The impact of FES on clinicians included: increased pressure, higher emotional toll, and balancing the benefits with resource limitations. FES was most useful when it provided prognostic information. The clinicians felt that FES had the most utility for patients when the result informed their decision about whether or not to continue a pregnancy. Clinicians acknowledged their ‘gatekeeper’ role and valued a collaborative, multidisciplinary approach. The main perceived harm for patients was the anxiety associated with waiting times for results. Conclusion This study provides insights into the delivery of a publicly funded FES program. Our findings highlight the importance of the multidisciplinary team in the successful implementation of genomic technologies in reproductive health.