Fit For Science
Rob and Stephan explore the new reality of $100 whole genome sequencing, the actionable value of polygenic risk scores, and the ethical future of personalized genomic medicine. šSummary Biological data scientists Rob and Stephan discuss the implications of the newly achieved $100 whole genome sequencing milestone, comparing unbiased whole genome reads to popular genotyping consumer products like 23andMe. They delve into the mechanics of genome-wide association studies and polygenic risk scores, examining how genetics interact with lifestyle and environmental factors to influence disease probability. The hosts share their personal experiences with services like Nebula Genomics, 23andMe and Dante Labs, revealing how insights, such as a high genetic predisposition for elevated ApoB levels, can drive actionable dietary changes like reducing saturated fats. Finally, they explore the psychological barriers, data privacy concerns, and ethical considerations of integrating genomic sequencing into standard medical practice and newborn screening to create a proactive, Bayesian model of preventative healthcare. ā³Chapters 00:00:00 The $100 Genome: Cost breakthroughs and historical perspective 00:07:41 Defining Sequencing: Genotyping consumer products vs. Whole Genome Sequencing 00:16:19 Polygenic Risk Scores: Predicting complex diseases using multiple genes 00:20:44 Nature vs. Nurture: How lifestyle pulls the trigger on genetic predispositions 00:23:17 Medical Implementation: Psychological anxiety and the actionability of genetic data 00:33:03 Personal Experiences: Reviews of Nebula Genomics, 23andMe, and Dante Labs 00:44:23 Actionable Insights: Modifying saturated fat intake based on ApoB percentiles 00:54:55 A Bayesian Healthcare Model: Combining genetics, demographics, and lifestyle 01:06:20 Ethical Explorations: The future of sequencing newborns and preventative screening šResources Human Genome Project [https://en.wikipedia.org/wiki/Human_Genome_Project] cost ~$3 Billion and took ~13 years (1990-2003) How to sequence the human genome - TED-Ed Video [https://www.youtube.com/watch?v=MvuYATh7Y74]Ā Genetic disorder (monogenic i.e., single-gene cause) [https://en.wikipedia.org/wiki/Genetic_disorder#Single_gene_disorder]Ā Scrappy San Diego startup goes toe-to-toe with gene-sequencing giant Illumina [https://www.sandiegouniontribune.com/2026/02/19/scrappy-san-diego-startup-goes-toe-to-toe-with-gene-sequencing-giant-illumina/] Element Biosciences [https://www.elementbiosciences.com/] Eric Topol's X post about $100 Gneom [https://x.com/EricTopol/status/2025265560901292279]Ā The cost of sequencing human genome has fallen from $100M to under $100 in approximately 25 years [https://www.reddit.com/r/singularity/comments/1rbhtzc/the_cost_of_sequencing_human_genome_has_fallen/#:~:text=BuildwithVignesh-,The%20cost%20of%20sequencing%20human%20genome%20has%20fallen%20from%20$100,111%20Go%20to%20comments%20Share]Ā Ā The $100 Genome: Whereās the Limit? [https://frontlinegenomics.com/the-100-genome-wheres-the-limit/]Ā Genome-wide association study (GWAS) [https://en.wikipedia.org/wiki/Genome-wide_association_study] Polygenic score (PRS) [https://en.wikipedia.org/wiki/Polygenic_score] What are Polygenic Risk Scores (PRS) and how can they be used in healthcare? [https://www.youtube.com/watch?v=BqR_G8DnPJw]Ā Systematic comparison of family history and polygenic risk across 24 common diseases [https://pmc.ncbi.nlm.nih.gov/articles/PMC9748261/]Ā > āIn most diseases, including coronary artery disease, glaucoma, and type 2 diabetes, a positive family history with a high PRS was associated with a considerably elevated risk, whereas a low PRS compensated completely for the risk implied by positive family history.ā > āIn addition to capturing shared DNA, FH [family history] measures non-genetic exposures and behaviors shared by familiesā Nebula Genomics [https://nebula.org/] now DNA Complete [https://dnacomplete.com/] with subscription model George Church (geneticist) [https://en.wikipedia.org/wiki/George_Church_(geneticist)]Ā 23andMe [https://www.23andme.com/] Dante Labs [https://www.dantelabs.com/] Promethease [https://promethease.com/] for DNA reporting Reference genome [https://en.wikipedia.org/wiki/Reference_genome]Ā Personalized genomics [https://en.wikipedia.org/wiki/Personalized_genomics]Ā Apolipoprotein B (ApoB) [https://en.wikipedia.org/wiki/Apolipoprotein_B]Ā Ā The āthousand-dollar genomeā: an ethical exploration | European Journal of Human Genetics [https://www.nature.com/articles/ejhg201373] (2013!) ā¦There is more: complete show notes here [https://docs.google.com/document/d/1LCIm780Aue5573FWVpyDve5Wm_DBTwDqfzoZ5zTqeyY/edit?usp=sharing] šļøAbout Fit For Science is a deep-dive podcast hosted by two biological data scientists, Rob and Stephan, exploring the intersection of research, health tech, and data-driven lifestyle design. The hosts provide evidence-based systems, layered with practical "N=2" personal experimentation, to cut through the noise and enable everyone to become their best N-of-1. Learn more [https://creators.spotify.com/pod/profile/fitforscience/] and subscribe on your favorite platforms: YouTube [https://www.youtube.com/@FitForScience] Spotify [https://open.spotify.com/show/56TjUxuMsPETb0kGEJ7nwf] Apple Podcasts [https://podcasts.apple.com/us/podcast/fit-for-science/id1863479802] Amazon Music [https://music.amazon.de/podcasts/c3e54ee7-4a2c-442e-a59f-553fbfb02b11/fit-for-science] Collection of all show notes [https://docs.google.com/document/d/1LCIm780Aue5573FWVpyDve5Wm_DBTwDqfzoZ5zTqeyY/edit?usp=sharing] ā ļøDisclaimer: This podcast represents our own opinions and is for informational purposes only. It does not constitute medical or financial advice or a professional relationship.
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