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Presentation on theme: "Translating Science into Meaning"— Presentation transcript:
Slide1
Translating Science into Meaning
Amy McGuire, JD, PhD
Slide2
Translation = To Make Meaning
Slide3
The Future of Translational Science
Goal: medical care
based on individual genetic, environment, and lifestyle difference that enable more precise ways to prevent and treat disease
Slide4
Adult Only
DFCI/BroadBWHUWU MichSeattle/Kaiser
Pediatric OnlyCHOPBaylorLouisville/Alpha Hudson
BothUNC
Newborn Sequencing Program
BWH/Boston Children’s
Children’s MercyUCSFUNC
Clinical Translational Projects
Slide5Slide6
Medical Information Commons
Research Consortia
eMERGE
Network
CHARGE Consortium
Lung Genomics Research Consortium
NGOs
Genetic Alliance
Genome Bridge
Global Alliance for Genomics and Health
Govt
Programs
CDC, National Center for Health Statistics
NIH, BD2K
NIH,
ClinVar
HC Systems & Clinical Labs
Baylor
Miraca
Genetics Laboratory
Geisinger
Health System
Kaiser Permanente
Tech Companies
23andMe
Amazon,
DNAnexus
Google, Google Genomics
McGuire, Cook-
Deegan
,
Deverka
,
Majumder
, Koenig
Slide7
“We know what we are, but know not what we may be”William Shakespeare
Slide8Slide9Slide10
Example of Genetic Determinism
Later that week, I get an email addressed to my daughter, whom I had just tucked in for the night. Her [23andMe] results are ready, and I approach them with an even greater ravenousness [than my own results]. At first glance, everything looks great…
And there it is, screaming out at me from my computer screen. My daughter, who is learning to read and tie her shoes, has two copies of the APOE-4 variant, the strongest genetic risk factor for Alzheimer's. According to her 23andMe results, she has a 55% chance of contracting the disease between the ages of 65 and 79.
My husband, who is out of town on business, texts that he will call me at 8:30. "Everything okay?" he adds. "All good," I write back, "except our daughter is going to get Alzheimer's."
