GeneDx (WGS) Goldman Sachs 45th Annual Global Healthcare Conference summary

Business overview and key initiatives

• Focused on delivering whole exome and whole genome sequencing, primarily for pediatric populations, aiming for early diagnosis of hereditary diseases.

• 80% of clinical exomes are processed, with a strong presence in outpatient settings and NICUs.

• Collaboration with Epic announced to integrate genetic testing into EHR workflows, improving provider access and commercial reach.

• Expanded commercial team and leadership in genome sequencing to amplify market presence.

Epic integration and operational impact

• Epic integration will streamline ordering and access for providers, with expected uplift in 2025.

• Build-out for integration starts this year, with financials included in current OpEx and cash burn guidance.

• Anticipated benefits include improved reimbursement rates and reduced denials through better information flow.

• Integration will also facilitate data aggregation and billing workflow improvements.

Differentiation and data strategy

• Over 600,000 clinical exomes run, creating a robust, rare disease-enriched dataset.

• Parent-child trio sequencing in two-thirds of cases enhances data quality and interpretation.

• Higher diagnostic yield and fewer variants of unknown significance compared to panels, leading to cost savings.

• Data business remains a small revenue contributor, with partnerships like Komodo and biopharma collaborations supporting growth.