Translating Science into Meaning
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Translating Science into Meaning

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Translating Science into Meaning




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Presentation on theme: "Translating Science into Meaning"— Presentation transcript:

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Translating Science into Meaning

Amy McGuire, JD, PhD

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Translation = To Make Meaning

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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

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Adult Only

DFCI/BroadBWHUWU MichSeattle/Kaiser

Pediatric OnlyCHOPBaylorLouisville/Alpha Hudson

BothUNC

Newborn Sequencing Program

BWH/Boston Children’s

Children’s MercyUCSFUNC

Clinical Translational Projects

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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

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“We know what we are, but know not what we may be”William Shakespeare

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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."  

From:

Inside 23andMe Founder Anne

Wojcicki’s

$99 DNA Revolution

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