Implementing Publicly Funded Fetal Exome Sequencing: A Statewide Multidisciplinary Model for Equitable Integration of...

To evaluate the implementation of a publicly funded statewide perinatal exome sequencing (ES) program in Victoria, Australia, focusing on eligibility, diagnostic yield, clinical utility, and equity.

We conducted a retrospective cohort study of ES referrals for fetal anomalies from 2018 to 2022. Eligibility was assessed by multidisciplinary teams at four tertiary fetal medicine units. We examined approval rates, referral indications, diagnostic yield, turnaround time, timing (prenatal or postmortem), and pregnancy outcomes. Subgroup analysis was conducted for prenatal and postmortem cases. Differences in proportions were assessed using z-tests (p < 0.05 significant).

Of 195 referrals, 179 (93%) were approved for publicly funded ES. Diagnostic yield was 38%, similar in prenatal (37.5%) and postmortem (38%) cases. In prenatal cases, termination was significantly more frequent when a causative variant was identified (67% vs. 17%, p < 0.0001). Most ES recipients lived in metropolitan areas (77% vs. 68%, p = 0.01), with no significant disparities in socioeconomic status or migrant background.

This study demonstrates the feasibility and clinical utility of a state-funded MDT-led perinatal ES program in Australia. It highlights equitable access across population groups, supports the value of structured implementation, and underscores the need for ongoing evaluation to ensure equitable genomic care delivery.