The $100 Genome: Genetic Risk Scores & Sequencing Babies (Fit For Science Episode 13) cover art

The $100 Genome: Genetic Risk Scores & Sequencing Babies (Fit For Science Episode 13)

The $100 Genome: Genetic Risk Scores & Sequencing Babies (Fit For Science Episode 13)

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 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.📝SummaryBiological 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.⏳Chapters00:00:00 The $100 Genome: Cost breakthroughs and historical perspective00:07:41 Defining Sequencing: Genotyping consumer products vs. Whole Genome Sequencing00:16:19 Polygenic Risk Scores: Predicting complex diseases using multiple genes00:20:44 Nature vs. Nurture: How lifestyle pulls the trigger on genetic predispositions00:23:17 Medical Implementation: Psychological anxiety and the actionability of genetic data00:33:03 Personal Experiences: Reviews of Nebula Genomics, 23andMe, and Dante Labs00:44:23 Actionable Insights: Modifying saturated fat intake based on ApoB percentiles00:54:55 A Bayesian Healthcare Model: Combining genetics, demographics, and lifestyle01:06:20 Ethical Explorations: The future of sequencing newborns and preventative screening📚ResourcesHuman Genome Project cost ~$3 Billion and took ~13 years (1990-2003)How to sequence the human genome - TED-Ed Video Genetic disorder (monogenic i.e., single-gene cause) Scrappy San Diego startup goes toe-to-toe with gene-sequencing giant IlluminaElement BiosciencesEric Topol's X post about $100 Gneom The cost of sequencing human genome has fallen from $100M to under $100 in approximately 25 years The $100 Genome: Where’s the Limit? Genome-wide association study (GWAS)Polygenic score (PRS)What are Polygenic Risk Scores (PRS) and how can they be used in healthcare? Systematic comparison of family history and polygenic risk across 24 common diseases > “In 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.”> “In addition to capturing shared DNA, FH [family history] measures non-genetic exposures and behaviors shared by families”Nebula Genomics now DNA Complete with subscription modelGeorge Church (geneticist) 23andMeDante LabsPromethease for DNA reportingReference genome Personalized genomics Apolipoprotein B (ApoB) The ‘thousand-dollar genome’: an ethical exploration | European Journal of Human Genetics (2013!)…There is more: complete show notes here🎙️AboutFit 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 and subscribe on your favorite platforms:YouTubeSpotifyApple PodcastsAmazon MusicCollection of all show notes⚠️Disclaimer: 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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