GeneDx (WGS) investor relations material

Industry landscape and market positioning

• Rare disease testing is a rapidly growing field, with 1 in 10 Americans affected and half being children, making it more common than perceived.

• GeneDx holds 80% market share in rare disease genetic testing, with 8 out of 10 genetic experts relying on its services.

• The company’s data asset includes over 850,000 exomes/genomes and more than 7 million phenotypic data points, providing a significant competitive advantage.

• Market leadership is supported by rapid turnaround times, high accuracy, and cost efficiency, with exome results in three weeks and rapid genome results in 48 hours.

• New guidelines from the American Academy of Pediatrics recommend exome/genome testing for children with developmental delays, expanding the addressable market.

Growth strategy and future opportunities

• Near-term growth focuses on expanding utilization among pediatric neurologists and specialists, with strong uptake expected through 2025.

• Medium-term strategy targets general pediatricians, supported by a dedicated commercial team and educational outreach following new clinical guidelines.

• Newborn screening is a major opportunity, with Florida enacting supportive legislation and studies showing actionable diagnoses in 3.2% of healthy newborns.

• The company is also exploring adult genetic disease diagnosis and broader patient population coverage.

• Strategic investments focus on improving customer experience, automation, and leveraging AI to scale operations and reduce costs.

Reimbursement and payer landscape

• Coverage for exome/genome testing has expanded to 35 state Medicaid programs and 17 states for inpatient rapid genome coverage, up from zero a decade ago.

• Average reimbursement rates have improved, now exceeding 50% on the commercial side, with ongoing efforts to further reduce denials and expand coverage.

• Challenges remain due to varying administrative requirements among payers, but payer understanding is expected to mature, normalizing reimbursement.

• Health economic data is being developed to further support payer adoption, especially for newborn screening programs.