The Heart of Healthcare | A Digital Health Podcast

AI 🤝 Genomics | GeneDx CEO Katherine Stueland

Nov 25, 2024

Katherine Stueland, President and CEO of GeneDx, discusses how AI is revolutionizing genetic testing to diagnose rare diseases in days instead of years. She highlights the evolution from single-gene testing to whole genome sequencing and the impact of a landmark Supreme Court decision on patient access. Katherine shares insights on the challenges parents face while navigating rare conditions and the critical role of genetic testing in NICUs. She also emphasizes the importance of women in leadership roles within healthcare.

29:39

Episode guests

Katherine Stueland

AI Summary

AI Chapters

Episode notes

Podcast summary created with Snipd AI

Quick takeaways

AI is integral to transforming genetic testing by speeding diagnosis from years to days, addressing the expert shortage in medical genetics.

The Supreme Court's 2013 ruling on gene patents broadened genetic testing access, enabling insights into a wide array of genetic conditions.

Deep dives

Innovations in Genetic Testing

GeneDx has revolutionized the field of genetic testing by utilizing advanced techniques such as exome and genome sequencing to provide swift diagnoses for children suffering from rare diseases. This process significantly reduces the lengthy diagnostic odyssey families typically endure, which averages six to eight years, down to just weeks or days. The company's ability to distill comprehensive genomic information into actionable diagnoses allows for timely interventions and has garnered significant interest from investors, evident in its remarkable stock growth. By focusing on high unmet needs within the healthcare system, GeneDx not only enhances patient care but also positions itself at the forefront of the rapidly evolving genomics market.

Intro

3min

Unlocking the Genome: A New Era in Genetic Testing

5min

Navigating Insurance and Sequencing: The Transition to Whole Genome Analysis

2min

The Importance of Genetic Testing in the NICU

2min

Genomics and Rare Disease Diagnostics

12min

From Communications to Healthcare Leadership

6min

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

---

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

---

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.

---

🙏 If you're enjoying the show, we would so appreciate it if you left us a review!

---

📍 Connect with us:

Heart of Healthcare website

Twitter

See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.