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Translating Science into Meaning Amy McGuire, JD, PhD.

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Presentation on theme: "Translating Science into Meaning Amy McGuire, JD, PhD."— Presentation transcript:

1 Translating Science into Meaning Amy McGuire, JD, PhD

2 Translation = To Make Meaning

3 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

4 Adult Only DFCI/Broad BWH UW U Mich Seattle/Kaiser Adult Only DFCI/Broad BWH UW U Mich Seattle/Kaiser Pediatric Only CHOP Baylor Louisville/Alpha Hudson Pediatric Only CHOP Baylor Louisville/Alpha Hudson Both UNC Both UNC Newborn Sequencing Program BWH/Boston Children’s Children’s Mercy UCSF UNC BWH/Boston Children’s Children’s Mercy UCSF UNC Clinical Translational Projects

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6 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

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

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10 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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