GeneDX CEO Katherine Stueland on if the cuts at NIH impact the company

Key Concepts

• Federal Funding Cuts: Reductions in government financial support for programs, specifically healthcare and research.
• NIH (National Institutes of Health): A primary federal agency in the United States responsible for biomedical and public health research.
• Human Genome Project: An international scientific research project that successfully mapped the entire human genome.
• Medicaid: A joint federal and state program in the U.S. that provides healthcare coverage to low-income individuals and families.
• Rare Disease: A disease that affects a small percentage of the population; in the U.S., defined as affecting fewer than 200,000 people.
• Clinical Outcomes: The measurable changes in health or quality of life that result from medical interventions or care.
• Health Economic Data: Information and analysis used to evaluate the costs and benefits of healthcare interventions, policies, and programs.
• Early Diagnosis: The identification of a disease or condition at an early stage, often before severe symptoms develop, which can lead to more effective treatment and better outcomes.

Impact of Federal Funding Cuts on Business

• NIH Funding Cuts: The speaker states that cuts to the National Institutes of Health (NIH) do not directly impact their business's current operations, as they are not reliant on NIH funding for their business today.
• Broader Innovation Ecosystem: Despite the lack of direct impact, the speaker expresses concern that NIH cuts mean "somebody else is going to have to offset the research and the innovation" that has been crucial for progress since the completion of the Human Genome Project. This highlights an indirect, systemic concern for the future of medical innovation.

Addressing Healthcare Costs and Rare Disease

• Engagement with Policymakers: The speaker has dedicated significant time to engaging with policymakers, spending "a lot of time over the past several months with policy makers" and "several years with state policy makers," particularly regarding issues beyond NIH, such as Medicaid.
• Business Value Proposition: The company's unique contribution is its ability to deliver "better clinical outcomes" while simultaneously "saving the health care system dollars."
• Economic Burden of Rare Disease: Rare diseases impose a massive financial strain on the United States, with an estimated "trillion dollar economic impact in the United States for rare disease alone."
• The Role of Early Diagnosis: A "significant portion" of this trillion-dollar cost is attributed to the failure to diagnose rare diseases. Instead of diagnosis, the healthcare system continues "paying for the treatment of symptoms" and "hospitalizations."
• Health Economic Data and Savings: The company has generated "really important health economic data" that empirically demonstrates the healthcare system is already "paying for these diseases without a diagnosis." This data supports the core argument that "By diagnosing sooner, you're actually saving the health care system important dollars," underscoring the economic efficiency of early and accurate diagnosis.

Conclusion

The speaker clarifies that while federal funding cuts to research programs like NIH do not directly affect their immediate business model, they pose a broader threat to the innovation ecosystem. Their primary focus is on the substantial economic burden of rare diseases, which amounts to a trillion-dollar impact in the U.S. The company's strategy involves demonstrating, through robust health economic data, that early diagnosis of rare diseases not only leads to improved clinical outcomes but also generates significant cost savings for the healthcare system by reducing expenditures on symptom management and hospitalizations. This positions their approach as a critical solution for policymakers, particularly in the context of programs like Medicaid, to achieve both better patient care and financial efficiency.