Unlocking Rare Disease Diagnoses with PacBio’s Long-Read Sequencing – A Conversation with CEO Christian Henry

I’m joined by Christian Henry, CEO of PacBio, a company leading the way in high-accuracy long-read sequencing. We break down what that means in simple terms, how this technology is helping families solve their diagnostic odyssey, and why some genetic tests miss key information that PacBio can detect. Plus, if you've already had whole genome sequencing without finding an answer, Christian explains why it might be time to take another look.

We also dive into the future of genetic testing, what needs to change for sequencing to become a routine part of medical care, and how families and advocates can help drive progress forward.

This episode is all about hope, science, and the relentless pursuit of answers. Happy Rare Disease Day, and thank you for being part of this incredible community!

Topics Covered:

✅ What is long-read sequencing, and how is it different from traditional genetic testing?

✅ How PacBio’s technology is solving rare disease mysteries faster and more accurately.

✅ Why some families don’t get answers from whole genome sequencing—and why they should consider trying again.

✅ The biggest barriers to making genetic testing more accessible and routine in rare disease care.

✅ How long-read sequencing could help lead to future treatments, not just diagnoses.

✅ What the next five years of genomic sequencing could look like.

✅ How rare disease families and advocacy groups can collaborate with PacBio to accelerate discoveries.

Resources & Links:

🔗 Learn more about PacBio and long-read sequencing: https://www.pacb.com/

🔗 Follow PacBio on X: @PacBio

🔗 More about Rare Disease Day: www.rarediseaseday.org

💬 Join the Conversation!

Have you been on a diagnostic odyssey? Have questions about genetic testing? Share your thoughts and experiences with me on Instagram

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