BACKGROUND: Genomics has improved etiological diagnosis for foetal structural anomalies. It is being increasingly utilised in prenatal investigation both in Australia and internationally. To date, literature reporting diagnostic yield according to indication has been available. There is limited literature around the challenges of implementation and other aspects of utility.
AIMS: We aimed to explore the experiences and perspectives of clinicians involved with the delivery of a state-wide public prenatal exome sequencing (pES) service in Australia.
MATERIALS AND METHODS: This qualitative study was developed using a pragmatism framework. A multidisciplinary cohort of clinicians across all tertiary foetal medicine units in Victoria was interviewed. Inductive content analysis was used to understand the experiences, impact, and utility of pES.
RESULTS: Eight clinician interviews were analysed. The impact of pES on clinicians included: increased pressure, higher emotional toll, and balancing the benefits with resource limitations. PES was most useful when it provided prognostic information. The clinicians felt that pES 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.
CONCLUSIONS: This study provides insights into the delivery of a publicly funded pES program. Our findings highlight the importance of the multidisciplinary team in the successful implementation of genomic technologies in reproductive health.
