Advancing Disease Modeling in Animal-Based Research in Support of Precision Medicine Proceedings of a Workshop (2018) / Chapter Skim
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2 Existing Precision Medicine Initiatives
2 Existing Precision Medicine Initiatives
Pages 16-25
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From page 16... ...
• The future of genomic medicine is dependent on deep and ac curate phenotyping of clinical and model organisms and the use of precision animal models to validate genetic findings and to test potential treatments. (Smedley)
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From page 17... ...
Data will be collected using a wide variety of methods, including biospecimens, wearable technologies, electronic health records, and surveys. The program seeks to recruit a highly diverse group of participants and will particularly over-recruit populations who are traditionally underrepresented in biomedical research.
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From page 18... ...
genomic medicine centers around the country, responsible for recruiting patients, obtaining informed consent, and collecting samples. Sequencing is performed, and electronic health record data on the patients are collected and stored at a specially commissioned data center that is government-approved, secure, and behind an NHS firewall.
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From page 19... ...
In particular, in order to integrate clinical and genetic data, the clinical data need to be captured and recorded in a standardized way across the system. Genomics England has created a clinical data capture system for rare disease diagnostics that includes defined Human Phenotype Ontology (HPO)
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From page 20... ...
He noted that similar programs are available in other countries as well, and that the International Mouse Phenotyping Consortium, with its huge number of mouse models, also takes requests for new ones. Genomics England is also participating in the Matchmaker Exchange program, which seeks to connect patients, diseases, and model organisms around the world to aid in diagnosis and mechanistic discovery, and also performs computational matching of rare disease patients across clinical and public sources.
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From page 21... ...
Specifically, the goal is to place France among the leading countries in the field of genomic medicine in the next 10 years, to export its expertise developed in this area, and to establish a medical and industrial sector of genomic medicine. Nguyen further elaborated that, on the first goal of integrating sequencing into routine healthcare, the report outlined a basic model for integration that included putting clinical and genetic data into a national database, and a framework for exchange between the diagnostic laboratory and clinical decision makers and patients.
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From page 22... ...
JAPAN: INITIATIVE ON RARE AND UNDIAGNOSED DISEASES Kenjiro Kosaki, director of the Center for Medical Genetics at Keio University School of Medicine, told workshop participants about Japan's Initiative on Rare and Undiagnosed Diseases (IRUD)
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From page 23... ...
The second example Kosaki gave was a patient who suffered from intellectual disabilities, lymphedema of the legs, and increased platelet size with concomitant decreased platelet count. Genetic analysis showed a novo mutation in CDC42, which in mouse models was associated with large, albeit fewer, platelets, and brain defects.
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From page 24... ...
Rwanda and Japan have signed on as government partners, and corporate partners include Kaiser Permanente, Microsoft, and the American Heart Association. The Precision Medicine project, said Dana, has the objective of shaping the trajectory of precision medicine to promote societal benefits while minimizing risk, and will do so by collaboratively designing and testing governance approaches for precision medicine through pilot projects.
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From page 25... ...
EXISTING PRECISION MEDICINE INITIATIVES 25 Dana enumerated the challenges identified thus far by the Precision Medicine project: • Evidence of efficacy generation • Data sharing and infrastructure • Regulatory environments • Integration into clinical practice • Pricing and reimbursement pathways • Patient and public engagement Dana said that the Precision Medicine project is a global scoping exercise and a global endeavor; therefore she welcomes the opportunity to collaborate with all relevant stakeholders from around the world.
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