Frederik Hermann
frederikhermann.com
Senior Director of Marketing at 23andMe, 4 exits including one IPO, focused on global marketing, growth and demand generation in #DTC and #B2B. Please visit https://www.frederikhermann.com for more information or to get in touch.
👤 Joined on 03 September 2024
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Huge congratulations to the incredible 23andMe Research and Dana-Farber teams for getting this over the finish line. And *as always*, a massive thank you to the 23andMe participants who make this research possible!
Show PostThis paper is a beautiful example of what a large direct-to-consumer cohort makes possible: T790M is rare enough that its risk had never been reliably estimated. Its origins and distribution may support geographically targeted testing. www.science.org/doi/10.1126/...
Show PostIn all carriers, the variant was found on a European-ancestry haplotype. The team to estimated TMRCA: ~1707 for British-ancestry carriers, predating many colonial voyages, so the mutation likely arose in Europe.
Show PostThe team then traced the variant origins. An IBD analysis against 3.45M participants with grandparent birth coordinates put the peak relatedness to carriers in northern Alabama/southern Tennessee. Carrier frequency: 1 in 2,078 in AL/MS/TN vs 1 in 12,821 US-wide; a 6X enrichment.
Show PostWhat can we learn about a single rare variant? Published today in Science: the 23andMe Research Institute and Dana-Farber studied the EGFR T790M in 10.1M 23andMe research participants. The variant has OR = 25.2 for lung cancer, rising to 61.7 in never-smokers(!). 🧵
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