All Segments
a16z Podcast | Revisiting the Gene
12 segments available
The complete sequencing of the human genome is one of the most powerful examples of technology and science in action: We've gone from needing $3 billion and over 13 years to read a single human genome to today, to where we can do that same amount of work for about $1,000 in roughly 2 days -- and the price will only continue to drop. But beyond pricing, what does understanding the gene -- and moving from the sequencing layer to the applications layer -- mean to us; what new questions arise now that we can sequence DNA quickly, reliably, and cheaply? This conversation -- with co-founder and CEO of Jungla Carlos Araya and co-founder and CEO of Freenome Gabe Otte, moderated by a16z General Partner Jorge Conde (based on a discussion that took place at a16z’s annual Summit in November 2017) -- takes a step back and considers all these questions. Every time a human genome sequence is completed, there are on the order of 3,000,000 new variants identified. So how do we think about interpreting all that data? Actionability? And how do we derive meaning from all this, for applications in the clinical space?
Segments Timeline
The Evolution of Genome Sequencing
This segment introduces the transformative journey of human genome sequencing, highlighting the drastic reduction in time and cost from $3 billion over 13 years to about $1,000 in just two days. The discussion sets the stage for exploring how this technological advancement impacts healthcare and the applications that can be built on this sequencing layer.
"hello and welcome to the a 16z podcast sequencing the human genome matically changed how we understand how we as human beings are coded we're now entering a phase of building an applications layer on ..."
Understanding vs. Reading DNA
The conversation delves into the distinction between reading DNA and truly understanding it. Despite the ability to sequence DNA quickly and affordably, the challenge lies in interpreting the vast amounts of data generated, particularly in the context of clinical applications and actionable insights.
"conversation which took place at our annual summit event in November 2017 includes Carlos Araya co-founder and CEO of jungle ax and Gabe OTT co-founder and CEO of freedom and was moderated by a 16 ZJ ..."
Interpreting Genetic Variants
Carlos Araya discusses the complexities of interpreting genetic variants, noting that while millions of variants are identified, only a small fraction are clinically significant. This segment emphasizes the need for context in understanding which genetic variations matter for specific health conditions.
"gone through this period of really trying to make sense of all of this information but what's extraordinary is that now that we can sequence DNA quickly and reliably and cheaply we've created this inc..."
The Cost of Interpretation
This segment highlights the disparity between the low cost of data acquisition and the high cost of interpreting genetic data. Carlos explains how the interpretation of variants can be significantly more expensive, raising questions about the scalability and accessibility of genomic medicine.
"there's really you know only a certain number of places in the genome that are relevant for any given condition that we're considering and putting the information in context of a condition in context ..."
Communicating Genetic Information
The discussion shifts to the challenges of communicating genetic information to physicians and patients. Carlos emphasizes the importance of clear guidance on the implications of genetic mutations, especially when many doctors lack specialized training in genetics.
"thousand fold increase in the cost of interpretation relative to the cost of data acquisition so we build models computational experimental to provide variant interpretation teams guidance that can te..."
Dynamic vs. Static DNA
Gabe Otte introduces the concept of dynamic DNA, explaining how DNA is not static and can change over time. This segment contrasts traditional genetic testing methods with innovative approaches that analyze dynamic DNA to provide real-time insights into health conditions.
"mutations in them so 0.6% 0.6 percent yeah how do you actually communicate this information into a position because the vast majority of doctors out there are not geneticists agreed and you know somet..."
The Importance of Dynamic DNA in Diagnostics
Gabe elaborates on how analyzing dynamic DNA can lead to a better understanding of health and disease. He discusses the potential for using blood samples to capture real-time changes in DNA, which can provide critical insights into a person's molecular health.
"this kind of technology is different than how we've all sort of historically viewed Diagnostics sure it's good to take a step back and see or talk about like what do we mean by a gene or what do we me..."
Broad Applications of DNA Diagnostics
The conversation explores the broad applications of DNA diagnostics beyond cancer detection. Gabe explains how monitoring changes in the immune system through dynamic DNA can help identify various diseases, emphasizing the role of AI in enhancing diagnostic accuracy.
"because the truth of the matter is is less than 1% of your DNA is being used by any particular cell and so it really matters what that 1% is that ultimately makes your cells what they are makes you wh..."
Challenges in Genetic Testing
Carlos discusses the potential pitfalls of genetic testing, including misinterpretation of results that can lead to unnecessary medical procedures. This segment highlights the complexities of genetic data and the need for accurate communication to prevent patient harm.
"whether you have a particular disease like cancer so this is an important distinction because I think one of the things that was so incredibly exciting and promising regarding this ability to have a s..."
The Future of Diagnostic Accuracy
Gabe addresses the challenges of launching diagnostic tests, particularly the high false positive rates in traditional methods like mammography. He discusses how AI can improve diagnostic accuracy over time, allowing for continuous learning and adaptation post-launch.
"well I think it really depends on what type of DNA you're looking for right if you're looking at DNA fragments that are in your bloodstream that are coming from the cancer cells and that's all you're ..."
Reimbursement Challenges in Genomic Testing
The segment focuses on the reimbursement landscape for genomic diagnostics, highlighting the difficulties in getting tests covered by payers. Gabe explains the need for clear evidence of return on investment to convince stakeholders of the value of these tests.
"came back negative but they included in the test information that said that there was a variant that was found that was of unknown significance and so the test very clearly indicated there was no clin..."
Transforming Healthcare with Genomics
In the closing remarks, the hosts reflect on the transformative potential of genomic technologies in healthcare. They emphasize the importance of ongoing discussions and innovations in the field to improve disease detection and patient outcomes.
"pair's I think we're like stuck in this model where we're relying on payers to pay for these tests there are new models that are coming out that's leveraging life insurance companies that's leveraging..."