Technology is transforming genetic testing and bringing hope to families facing rare diseases. In this episode, GeneDx (Nasdaq: WGS) CEO Katherine Stueland sits down with Steve Kraus to share how AI is being used to crack life's most complex code and speed up diagnosis from years to days.
We cover:
🧬 The evolution from single-gene testing (remember BRCA?) to whole genome sequencing, and why the Supreme Court's decision to ban gene patents changed everything
🔬 How 1 in 10 Americans has a rare disease, yet the path to diagnosis traditionally takes 6-8 years
💪 How parents become "honorary PhDs" in their children's rare conditions and how this drives research forward
🤖 With only 1,500 medical geneticists nationwide, AI can help bridge the expertise gap
💰 The shifting landscape of insurance coverage and why states are starting to see the value of early genetic diagnosis
📊 How GeneDx built the world's largest rare disease database (700,000 clinical exomes and counting) and what that means for future drug development
👩💼 Katherine's journey from communications major to CEO, and why having more women leaders matters in healthcare
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Shortcuts:
00:00 Introduction and Overview
01:29 Advancing Diagnoses for Rare Diseases
06:33 The Evolution of Genetic Testing
10:44 The Cost and Coverage of Genetic Testing
21:55 The Role of AI in Genomics and Genetic Testing
29:43 From Communications to CEO: Katherine's Journey
35:23 Promoting Gender Equality in the C-Suite
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About our guest:
Katherine Stueland has dedicated her career to revolutionizing healthcare with patient-centered business approaches. Instrumental in obtaining FDA approval for breakthroughs like the first protease inhibitor for HIV/AIDS and pioneering cancer immunotherapy, she champions the integration of genomic data for precision diagnostics in rare diseases and cancer. As President and CEO of GeneDx (Nasdaq: WGS) since June 2021, she is at the forefront of transforming healthcare through the Company’s industry-leading exome and genome testing. Previously, as Chief Commercial Officer of Invitae (NYSE: NVTA), she elevated the brand to a market cap of over $6 billion.
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