a16z Podcast | Revisiting the Gene | Summary and Q&A

TL;DR

Genomic sequencing has become faster and cheaper, opening up possibilities for building applications on top of it. Companies are working on developing diagnostic applications using DNA that can provide insights into disease risk and overall molecular health.

Key Insights

• 👻 Genomic sequencing has become faster, cheaper, and more accessible, allowing for the development of diagnostic applications on top of the sequencing layer.
• ✋ Interpretation of genomic data is still a challenge, with the cost of interpretation being significantly higher than data acquisition.
• 🧑‍⚕️ Diagnostic applications using dynamic DNA can provide insights into molecular health and detect diseases by capturing changes in the immune system.
• ❓ Communicating the clinical significance of genetic variants to physicians and patients is crucial but challenging due to the complexity of the data.
• 😌 The potential peril lies in misinterpretation or overdiagnosis of genetic variants, highlighting the need for ongoing learning and improvement in diagnostic applications.
• 🏆 The reimbursement and payment landscape for diagnostic tests is a complex issue, with the need to demonstrate clear return on investment for payers.
• 😚 New models leveraging life insurance companies and closed systems may offer alternative payment structures for diagnostic tests.

Transcript

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Questions & Answers

Q: How do companies make sense of the vast amount of genomic information generated through sequencing?

Companies start by forming context, considering relevant parts of the genome for specific conditions and family history. They then look at individual genes and variations in those genes to understand their effects on disease risk.

Q: What is the cost difference between acquiring genomic data and interpreting that data?

While genome sequencing has become cheaper, the cost of interpreting the data is significantly higher. Interpreting disease-associated gene variations can cost 50 to $100 per variant, resulting in a much higher cost of interpretation compared to data acquisition.

Q: How do companies communicate the clinical significance of genetic variants to physicians who are not geneticists?

Interpretation of genetic variants often happens in the back end by dedicated teams of interpreters. The goal is to provide clear guidance to physicians about the effects of mutations, and when unknown, communicate the uncertainties. Companies use models to make predictions about unknown mutations and provide diagnostic metrics to guide interpretation.

Q: What are the potential applications for diagnostic applications using dynamic DNA?

Diagnostic applications using dynamic DNA can provide insights into overall molecular health and detect diseases by capturing changes in the immune system. This approach has the potential to detect any diseases where there is an immune change, going beyond just cancer detection.

Summary & Key Takeaways

• Genomic sequencing has become more accessible and cost-effective, with the ability to sequence a human genome for $1,000 in just a couple of days.

• While DNA sequencing has advanced, understanding and interpreting the vast amount of data generated is still a challenge.

• Companies are developing applications in the clinical space that interpret genomic data in the context of specific conditions and family history.

• Diagnostic applications using dynamic DNA can provide insights into molecular health and detect diseases through changes in the immune system.