GeneDx (WGS) Jefferies Global Healthcare Conference 2025 summary

Market opportunity and mission

• One in ten Americans has a rare disease, with half being children; early diagnosis is critical for better outcomes.

• Focus is on expanding awareness and access to genetic testing, especially in outpatient and NICU settings.

• Underutilization of genetic testing leads to significant healthcare costs and prolonged diagnostic odysseys.

• New campaigns and educational efforts aim to amplify the importance of early rare disease diagnosis.

• Expansion into additional indications like cerebral palsy and immune deficiency disorders is underway.

Operational and financial performance

• Achieved three consecutive quarters of positive adjusted EBITDA, with Q1 showing $7.7 million.

• Exome and genome tests operate at 80% gross margin, with ongoing efforts to improve reimbursement rates and reduce denials.

• Medicaid coverage has expanded to 33 states, resulting in higher payment rates and improved access.

• Automation and AI are being deployed to further reduce costs and improve efficiency in test analysis.

• Volume growth guidance for the year is 30%, with Q1 delivering 24% year-over-year growth.

Strategic initiatives and growth drivers

• Outpatient setting remains the primary driver for volume growth, with new indications layered in.

• NICU market is a long-term opportunity, with foundational work completed and initial pilots underway.

• Epic integration with Aura and product improvements, such as faster turnaround times, support increased utilization.

• Denial rates have improved from 65% to near 50%, with a goal to reach 20% over the next 18–24 months.

• ASPs are expected to remain flat for the year, reflecting a conservative approach amid ongoing payer negotiations.