a16z Podcast: When Will Genomics Live Up to the Hype?
Feb 22, 2017
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Carlos Araya, CEO of Jungla, Jeff Kaditz, CEO of Q, and Gabe Otte, CEO of Freenome, dive into the evolving world of genomics. They discuss how our understanding of DNA has transformed since the Human Genome Project, revealing it as a dynamic system. The conversation highlights the necessity of combining genomic and phenotypic data for accuracy in medical diagnostics. They also tackle commercialization hurdles and the push for preventative care, emphasizing the potential of machine learning to reshape genomics in healthcare.
Despite advancements in sequencing technology since the Human Genome Project, translating genomic data into actionable healthcare remains a significant challenge.
A lack of context in interpreting genetic information, along with insufficient phenotypic data, hinders the progress of precision medicine in genomics.
Deep dives
Current State of Genomics
The current state of genomics reflects significant advancements since the Human Genome Project, yet the expectations set at its inception remain largely unfulfilled. Although sequencing a human genome is easier and cheaper than ever, the translation of genomic data into practical healthcare applications has been slow and complex. Many individuals have not meaningfully utilized their genomic data to influence their healthcare decisions, highlighting a disconnect between availability and application. This gap underscores the necessity to bridge the chasm between genomic capabilities and actionable health insights.
Challenges in Genetic Interpretation
A fundamental challenge in genomics involves the interpretation of genetic information, as current methods often lack the context needed for meaningful insights. Although vast amounts of genomic data are being collected, the lack of comprehensive maps that link specific mutations to their functional effects hampers progress. Additionally, phenotypic data, which includes important characteristics like age and sex, is essential for accurately relating genomic results to health outcomes, but it is often inadequately captured. This insufficiency in understanding the connections between genetic and phenotypic information limits the potential of precision medicine.
Commercialization and Ethical Considerations
The commercialization of genomics faces considerable hurdles, primarily revolving around regulatory approval and reimbursement from insurance companies. Many genetic tests currently available yield probabilities rather than definitive diagnoses, complicating their acceptance in clinical settings. Furthermore, there are ethical questions regarding patients' rights to access their genetic information and the responsibilities of companies providing these services. Emphasizing preventive care and empowering patients with knowledge about their genetic risks could drive greater acceptance and utilization of genomic innovations.
It's been nearly 15 years since the Human Genome Project was completed. But "are we there yet" in the golden age of genomics? What did we think we'd have by now, what do we actually have, and what do we really still need to make genomics live up to its promise?
Well, one thing we now understand is that our DNA isn't static; in fact, it changes at an absolutely crazy rate. We also need to add more context -- about mutations, about somatic tissue, about phenotypes, about each person's unique history -- to make genetic information more complete and accurate. So what does that mean for predictive vs. diagnostic (which are two very different things) genomics? What are the challenges and opportunities for commercialization?
The guests in this episode of the a16z Podcast -- Carlos Araya of Jungla,Jeff Kaditz of Q, and Gabe Otte of Freenome -- discuss all this and more with a16z bio fund partner Malinka Walaliyadde in a conversation that took place at our inaugural a16z Summit event.
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