Technology is transforming genetic testing and bringing hope to families facing rare diseases. In this episode, GeneDx (Nasdaq: WGS) CEO Katherine Stuhlin 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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🤗 In this bonus episode, pharmacoeconomist Yoona Kim, co-founder and CEO of Arine, talks about tackling the $530 billion problem of medication mismanagement. She shares her approach to optimizing medication therapy using data science and clinical expertise.

We cover:

💊 The shocking scale of medication-related problems and their impact on patient health and healthcare costs

🛢️ How data silos and time constraints in healthcare contribute to dangerous medication errors

🌐 The use of AI and machine learning in predicting and preventing medication-related issues

⚖️ Balancing cost optimization with clinical appropriateness in medication recommendations

🚧 The challenges of integrating with existing healthcare systems and winning provider trust-

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About our guest:

Yoona Kim is the Founder & CEO of Arine, an AI-driven SaaS platform company focused on medication intelligence that grew 100% last year, and has produced more than 33 million life-improving recommendations for over 15 million patients. Prior to Arine, she was the Head of Clinical Modeling and Analytics at Proteus Digital Health. She was responsible for health economic and clinical implementation activities for Proteus Digital Health. Her team developed health economic value propositions from strategic conceptualization to business case development to actualization in the real-world.

Yoona holds a Bachelor's Degree from Stanford University, a PharmD with an emphasis in health policy and management from the University of California, San Francisco and a PhD in health economics and outcomes from the University of Texas at Austin.

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

Despite heart disease being the leading cause of death in the United States, cardiovascular care has been an overlooked opportunity in digital health. With 1 in 3 Americans facing cardiovascular disease in their lifetime, how can innovation help turn the tide?

In this episode, we explore heart health in the digital age with Dr. Jeff Wessler, cardiologist and founder/CEO of Heartbeat Health, the nation's largest virtual-first cardiovascular company.

We cover:

⌚If we can trust cardiovascular data from wearable devices (and what doctors call “Apple Heart Syndrome”)

🔢 The difference between “heart age” and “chronological age”

🤨 Why he’s skeptical of the remote monitoring market

❣️ The impact of stress on heart health and the role of inflammation

⚖️ Why he believes GLP-1s are the best heart drugs that have ever existed

🩺 Practical tips for listeners to improve their cardiovascular health (including the important but often-overlooked LPA test)

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About our guest:

Dr. Jeff Wessler is a Cardiologist and the Founder and CEO of Heartbeat Health, the nation's largest virtual-first cardiovascular company. Dr. Wessler graduated from Williams College, received an MPhil in public health and epidemiology from Cambridge University, and his MD from Harvard Medical School.

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

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📍 Connect with us:

Heart of Healthcare website

LinkedIn

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