Genomic Medicine Flagship Projects Working Group

Mission Statement
The Genomic Medicine Flagship Working Group develops and executes Genomic Medicine implementation projects in genomic medicine underserved settings, and engage local champions
Co-Chairs
Federico Innocenti (USA), George Patrinos (Greece), Alan Shuldiner (USA), and Grant Wood (USA)
  • Overview
  • Projects
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  • Develop flagship projects addressing implementation and pragmatic clinical trial design of evidence-based genomic medicine

  • Pharmacogenomics:
    • Develop data repositories of PGx variants in diverse populations around the world
    • Develop a strategy to engage PIs and young investigators from low and middle income countries in PGx research and clinical implementation
  • Rare Disease Diagnosis using Exome Sequencing:
    • Implement exome sequencing in children with rare and undiagnosed disease for diagnosis and genome-informed patient care
    • Establish a global network for LMICs in this area
    • Train local clinicians and providers and evaluate outcomes
    • Develop a resource to facilitate rare disease diagnosis using next generation sequencing
  • Disease Risk Assessment:
    • Cancer
      • Collaborate with the World Economic Forum in Rwanda on breast cancer
      • Conduct family-based study on colon cancer screening coupled with whole genome sequencing in individuals to provide a framework for genomic implementation in South Africa and the Middle East
    • Family History
      • Deploy family health history for identification of individuals, families and populations at risk for common chronic diseases