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

Area of Science:

• Genomic Medicine
• Reproductive Health
• Public Health Policy

Background:

• Perinatal exome sequencing (ES) offers diagnostic potential for fetal anomalies.
• Implementing large-scale genomic programs requires evaluation of access and outcomes.

Purpose of the Study:

• To assess the implementation of a publicly funded statewide perinatal exome sequencing program in Victoria, Australia.
• Key evaluation areas included eligibility, diagnostic yield, clinical utility, and equity.

Main Methods:

• Retrospective cohort study of exome sequencing referrals for fetal anomalies (2018-2022).
• Multidisciplinary teams assessed eligibility; data analyzed for approval rates, diagnostic yield, timing, and outcomes.
• Subgroup analyses compared prenatal and postmortem cases.

Main Results:

• 93% of referrals were approved for publicly funded exome sequencing.
• Diagnostic yield was 38%, consistent across prenatal and postmortem cases.
• Causative variants significantly increased termination rates in prenatal cases; equitable access observed across socioeconomic and migrant groups.

Conclusions:

• State-funded, multidisciplinary team-led perinatal exome sequencing is feasible and clinically useful.
• The program demonstrated equitable access, validating structured implementation.
• Ongoing evaluation is crucial for equitable genomic care delivery.