Chris Gignoux Colorado Center for Personalized Medicine

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Presentation transcript:

The Nest Generation in Personalized Medicine Discoveries: New methods and new populations Chris Gignoux Colorado Center for Personalized Medicine Department of Biostatistics and Informatics University of Colorado, Anschutz Medical Campus chris.gignoux@ucdenver.edu @popgenepi

Background Genetics has paved the way forward to large-scale personalized medicine Genome-wide data is: Cheap Bioinformatically simple Applicable across a broad range of traits, from Mendelian to complex Current landscape: > 1/1000 people worldwide has genome-wide data Ancestry, 23andMe Health Systems (Geisinger, Colorado, UK NHS)

Human Genetic History Henn, Cavalli-Sforza, Feldman, PNAS 2012

Human Genetic History is Complex! And has changed dramatically recently: Henn, Cavalli-Sforza, Feldman, PNAS 2012

Background Disease or traits are largely influenced by a subset of sites Even in an omnigenic model Ancestry influences all sites on the genome Genetics tells us about both

Discussion lately, improvement, but not quite there.

Precision Medicine shares this same danger! Discussion lately, improvement, but not quite there.

Courtesy Alicia Martin, ATGU MGH

Courtesy Alicia Martin, ATGU MGH

Alicia Martin, ATGU MGH

Alicia Martin, ATGU MGH

Polygenic risks across populations Trans-ethnic polygenic risk in complex traits Simulate based on inferred population history: Gravel et al, PNAS 2011

Alicia Martin, ATGU MGH

Alicia Martin, ATGU MGH

Polygenic risks across populations Trans-ethnic polygenic risk in complex traits are unpredictably biased when ascertained in a single population Coalescent-based simulation of polygenic architecture Martin et al, AJHG 2017

Genomic prediction improves with sample size, albeit slowly… Wray et al. Nat Rev Genet 2013

Genomic prediction improves with sample size, albeit slowly… *this is for one population Wray et al. Nat Rev Genet 2013

Today Investigating common diseases in diverse populations Gaining a better understanding of architecture in complex traits New methods to leverage existing data for improved power for discovery