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a16z Podcast | On the Genomics of Disease, From Science to Business

a16z2019-01-02
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💫 Short Summary

Advancements in machine learning and technology have transformed genomic research, allowing for faster understanding of the human genome and genetic diseases. Systems biology focuses on gene interactions and sequencing costs are decreasing. Computational biology, aided by machine learning, enhances genomic analysis beyond human capacity. Early cancer detection through genomics and systematized approaches improves survival rates. The shift towards proactive diagnostics and early disease detection is crucial. Genomics in healthcare emphasizes prevention and personal genome sequencing. The future predicts diagnostic machines in households and transformative medicine. Challenges in genomics adoption include reimbursement issues and commercial applications. Accurate and affordable genetic testing is essential for various applications. Novel genetic research includes mental health applications, gene editing, and proteomics. Excitement for new technologies shaping the future of genomics and healthcare.

✨ Highlights
📊 Transcript
Advancements in machine learning and technology have transformed genomic research.
01:27
The Human Genome Project showed the complexity of genetic diseases, prompting the need for new approaches.
With improved machine learning techniques and hardware support, researchers can analyze genetic systems computationally.
This shift in research methods has accelerated efforts to study genetic diseases.
New possibilities for identifying and treating diseases more effectively have been opened up.
Overview of Systems Biology and Genomics.
02:44
Systems biology studies gene interactions and their impact on cellular and physiological functions.
Changes in the genetic code can lead to serious diseases.
The Human Genome Project initially cost three billion dollars.
Advances in sequencing technology are making genomics more affordable.
Advancements in computational biology have significantly sped up DNA data analysis, reducing alignment time from days to minutes.
06:11
Machine learning plays a key role in interpreting large amounts of data and identifying important genetic factors related to disease.
Human ability for genomic analysis is limited, making machine learning essential for complex analysis beyond human capabilities.
Combining computational tools with biological knowledge improves research efficiency and accuracy in genomics.
The field of genomics is shifting towards using machine learning for more advanced data interpretation and analysis, surpassing traditional manual methods.
ML techniques advance genomic data analysis for improved disease understanding.
08:24
Research traditionally focuses on specific genes, but limited knowledge on how other parts of the genome impact diseases.
Shift towards a systemic approach in cancer research to avoid missing the bigger picture.
Blood holds valuable genomic information for early cancer detection.
Therapeutics benefit from focused approaches, while diagnostics necessitate a broader perspective.
Importance of Early Cancer Detection
11:39
Early detection of cancer is crucial for improving survival rates, significantly increasing the chances of successful treatment.
Immunotherapies provide a 30-40% chance of five-year survival, while detecting cancer early can boost survival rates to 80-97%.
The focus is on systematizing early detection to make it more accessible and effective for everyone, rather than relying on a single 'silver bullet' cure.
The challenge lies in shifting the medical paradigm from symptomatic treatment to proactive early detection.
The importance of early disease detection, particularly for diseases like cancer and Alzheimer's where symptoms are often detected late.
13:21
Current focus is on symptom-based diagnosis, but there is a need for technology to detect diseases before symptoms appear.
Risk tests provide information on the likelihood of developing cancer, but not current status.
Angelina Jolie's proactive approach to breast cancer screening is highlighted.
Emphasis is placed on the difference between detection and prediction in healthcare, with early detection being essential for effective treatment.
Importance of genomics in healthcare for early disease detection and prevention.
16:19
Personal genome sequencing could become a common household tool like computers.
Genomic technology is improving survival rates for diseases such as cancer, impacting patients and loved ones.
Market fluctuation of Illumina raises questions about hardware and software advancements in genomics.
Future of Medicine Transformation.
18:21
Diagnostic machines will become more accessible in households, similar to the movie Elysium.
More useful clinical applications needed, likened to tech industry evolution in the 90s.
Emphasis on innovation in genomics, especially in cancer research.
Importance of focusing on the application layer in genomics and the symbiotic relationship between different layers, along with the impact of monopolies on consumer benefits and opportunities for startups.
Shift towards building applications on top of a single technology platform.
21:51
Illumina's acquisition of companies like Verinata and focus on non-invasive prenatal testing.
Challenges of commercial adoption in genomics space.
Mention of Exact Sciences as the largest public company in the applications layer.
Discrepancy between market interest and market cap in the genomics space due to reimbursement issues.
Challenges in healthcare industry related to coverage of genomic tests by insurance companies.
24:35
Insurance companies reluctant due to perceived high costs and lack of accuracy.
Companies like Asterix in mental health only receiving reimbursement for 20% of tests.
Current technology for genomic tests accurate but expensive, costing thousands of dollars.
Single-payer systems like the UK may be more open to adopting genomic tests, overcoming obstacles crucial for wider adoption.
Importance of accurate and affordable genetic testing.
26:01
Genetic testing is crucial for genomics in plants and livestock to enhance crops and conditions.
Proteomics and mass spectrometry are useful for sensitive and minimal sample analysis.
Machine learning can interpret data from mass spec for various applications.
Novel genetic applications in humans include non-invasive prenatal testing and infertility.
Cancer continues to be a significant focus of genetic research and application.
New applications in mental health through genetic predictions.
27:49
Asuric, a company acquired by Myriad, is mentioned as a leader in this field.
CRISPR and gene editing are highlighted as a popular subject for future discussions.
The complexity of DNA, RNA, and proteins, as well as the spatial orientation of DNA within the nucleus, are discussed.
A cell is compared to a mini computer system, emphasizing the early stages of bio and computer software development.