GeneDx (WGS) investor relations material

Market trends and growth drivers

• Rare disease genomics is in early market development, with rapid growth driven by improved diagnostic technology and accessibility.

• Advances in whole exome/genome sequencing have reduced costs and turnaround times, making testing more accessible and efficient.

• Clinical guidelines now support broader use of genomic testing, expanding adoption beyond geneticists to general pediatricians.

• Health economics support early, single-test diagnosis, reducing the traditional five-year diagnostic odyssey for rare diseases.

• Market opportunity is expanding as more clinicians and payers recognize the value of early, accurate diagnosis.

Competitive advantages and data assets

• Holds 80% market share, supported by the proprietary Infinity data asset with over 2.5 million rare disease tests and nearly a million exomes/genomes.

• Rich genotypic and phenotypic data, including parental testing and diverse patient populations, create a significant data moat.

• Ability to upgrade or downgrade variants of unknown significance more frequently due to comprehensive data and expert team.

• FDA breakthrough designation and the largest commercial team in the space further strengthen market leadership.

• AI deployment enhances accuracy, efficiency, and scalability of interpretation.

Expansion into new markets and clinical settings

• NICU genetic testing is underutilized, with fewer than 5% of NICU babies tested despite evidence that 60% could benefit.

• Reduced turnaround times to as fast as 48 hours and introduced easier sample collection methods.

• Epic Aura integration and proprietary business case calculators support adoption in hospital settings.

• Multi-stakeholder sales approach targets geneticists, neonatologists, and hospital administrators.

• Progress in NICU and outpatient settings is expected to build momentum through 2026 and beyond.