In a recent episode of The Genetics Podcast, Patrick Short is joined by Dr. Jonathon Hill, Associate Professor at Brigham Young University and Co-Founder and VP of Science and Technology at Wasatch Biolabs. Together, they explore how long-read sequencing and epigenetic biomarkers are changing the game in diagnostics and how Jonathon is helping to build a thriving biotech community in Utah.
A path to long-read sequencing and epigenetics
Jonathon shared his journey from academic research to founding Wasatch Biolabs, the first clinical-grade lab dedicated to long-read sequencing. The idea for the company began with using methylation patterns to identify specific cell types in free-floating DNA. This approach opened the door to earlier detection of neurodegenerative diseases like Alzheimer’s. However, when short-read sequencing technology couldn’t deliver the needed accuracy, Jonathon turned to nanopore sequencing, which allowed for higher precision and the ability to read entire DNA strands from start to finish.
The result is a cutting-edge diagnostic tool capable of detecting structural variants, mutations, and even changes in DNA over time—areas where short-read sequencing often struggles. This breakthrough, Jonathon explained, has the potential to drastically improve how doctors diagnose and treat complex diseases like cancer and autoimmune disorders.
Applications in early disease detection
One of the most exciting parts of Jonathon's work is how long-read sequencing and epigenetics enable earlier disease detection. From spotting circulating tumor DNA to tracking tissue damage in autoimmune conditions, there are countless potential applications. During the episode, Jonathon highlighted a key advantage of methylation biomarkers: they change over time, providing a clearer picture of how a disease progresses and offering deeper insights into a patient’s health compared to static genetic data.
For instance, Wasatch Biolabs has developed a neurodegenerative disease panel designed to catch Alzheimer’s at an earlier stage and guide more precise treatments. They’re also exploring biomarkers to monitor the effectiveness of cancer therapies and detect pathogens through immune system responses, showcasing the versatility of these cutting-edge tools.
Why long-read sequencing is the future
Jonathon also addressed skepticism about the cost and practicality of long-read sequencing. While it’s currently more expensive than short-read sequencing, he explained that it’s often worth starting with long-read sequencing in cases where other approaches fall short, like diagnosing rare diseases or detecting structural variants. As technology improves and prices drop, he believes long-read sequencing will eventually become the go-to method in clinical genomics.
He also highlighted an exciting feature of nanopore sequencing called “adaptive sampling.” This technique allows scientists to focus on specific parts of the genome in real-time, cutting costs significantly while still keeping the big-picture insights of genome-wide sequencing.
Balancing academia and entrepreneurship
Jonathon's ability to balance his roles as a professor and biotech co-founder is a great example of how research and business can work hand in hand. At BYU, his lab collaborates with Wasatch Biolabs through a sponsored research agreement, allowing students to take on real-world, cutting-edge industry projects. This partnership has sparked a stream of new research and even spin-off companies.
By working on this win-win relationship between the university and the company, Jonathon is also helping to grow a thriving biotech community in Utah.
Final thoughts
As the conversation comes to a close, Jonathon expressed his excitement about how artificial intelligence could transform diagnostics by uncovering complex genomic and epigenomic patterns. However, he emphasized that for AI to reach its full potential, the quality of input data must improve.
Jonathon's journey highlights the incredible potential of long-read sequencing and epigenetics to improve both diagnostics and patient care. At the same time, his work at Wasatch Biolabs and BYU demonstrates how academia and industry can collaborate to drive innovation and train the next generation of biotech leaders.
Listen now:
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