WHY NOW ? The time is right because of: Sequencing Improved New tools of the human technologies for for using large genome biomedical analysis datasets
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D4FF55A0-6B6F-4181-8802-07BF422A9BA9What is it?
Precision medicine is an emerging approach for disease prevention
and treatment that takes into account people’s individual
variations in genes, environment, and lifestyle.
The Precision Medicine Initiative will generate the scientific
evidence needed to move the concept of precision medicine into
clinical practice.
www.nih.gov/precisionmedicine
201520“
Sequencing Improved New tools
genome biomedical analysis datasets
Innovative clinical trials Use of Knowledge to
of targets drugs for combination overcome drug
adult, pediatric cancers therapies resistance
http://syndication.nih.gov/multimedia/pmi/infographics/pmi-infographic
http://www.cancer.gov/research/key-initiatives/precision-medicine
LONGER TERM GOALS
Create a research cohort of >1 million American volunteers who
will share genetic data, biological samples, and diet/lifestyle
information, all linked to their electronic health records if they
choose
Pioneer a new model for doing science that emphasizes engaged
participants, responsible data sharing, and privacy
protection.
http://syndication.nih.gov/multimedia/pmi/infographics/pmi-infographic
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Research based upon the cohort data will:
Advanced pharmacogenomics, the right drug for the right patient at
the right dose
Identify new targets for treatment and prevention
Test whether mobile devices can encourage healthy behaviors
Lay scientific foundation for precision medicine for many
diseases
http://syndication.nih.gov/multimedia/pmi/infographics/pmi-infographic
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WarfarinWarfarinClopidogrel“”
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Inherited condition
Inherited condition23andMe Many of these conditions are recessive,
meaning that they only occur when you have two variants for that
condition, one inherited from each parent. If you have inherited
just one variant, you are said to be a "carrier". Carriers usually
do not have the condition, but can pass the variant on to their
childrenBRCA
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“These reports provide information about your possible risk for
developing certain health conditions based on genetics.
Environmental and lifestyle factors also often play a large role in
your risk for developing these conditions.”
Health Risk23andMe/These reports provide information about your
possible risk for developing certain health conditions based on
genetics. Environmental and lifestyle factors also often play a
large role in your risk for developing these conditions. “”
Gout2 +
Atrial Fibrillation, 40%it may cause not symptoms, but often
associated with palpitations, fainting, chest pain or congestive
heart failure. 30no symptoms
23andMeactual riskrelative risk
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Crohn’s Disease5%
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