GeneDx (WGS) Goldman Sachs 47th Annual Global Healthcare Conference 2026 summary

Market expansion and strategy

• Expanding from expert geneticists to pediatric neurology and general pediatricians, driven by updated American Academy of Pediatrics guidelines, to address the large unmet need in rare disease diagnosis.

• Targeting 25,000 pediatricians for global developmental delay and intellectual disability, with potential for hundreds of thousands of patients annually.

• Developing the NICU market with rapid whole genome testing, aiming for over 200,000 tests per year across 800 NICUs.

• Balancing investments by focusing on indications with established guidelines and payer policies, while building clinical and economic evidence to expand coverage.

• Educating non-expert clinicians and optimizing test mix to align with reimbursement policies and maximize volume.

Operational challenges and solutions

• NICU market is primarily B2B with hospitals, offering predictable payments but requiring strong economic value propositions to hospital administrators.

• Longer sales cycles in NICU due to the need to convince multiple hospital stakeholders of both clinical and economic benefits.

• For general pediatricians, simplifying ordering and reporting processes, including AI-driven tools for one-minute ordering and more accessible reports, to reduce workflow barriers.

• Launching a new customer experience tailored for non-experts, with features rolling out over the next several months.

• Maintaining detailed reports for geneticists while offering simplified versions for pediatricians, allowing clinicians to choose their preferred level of detail.

Product evolution and economics

• Accelerated shift from exome to genome testing among geneticists, with new Exome-to-Genome Reflex product offering flexibility and improved insurance coverage.

• Optimizing test mix based on clinician type and payer policy, balancing between exome, genome, and reflex tests to ensure healthy business economics.

• Improving genome unit economics by expanding payer coverage, leveraging AI for revenue cycle management, and driving down input costs through increased volume.

• Achieving near cost parity in analysis and interpretation (dry lab), with the main cost gap remaining in wet lab consumables.