A vision for the future of genomics research

Francis S. Collins, et al., A vision for the future of genomics research, Nature 422, 2003

Grand challenges of genomics to biology

  • Comprehensively identify the structural and functional components encoded in the human genome
  • Elucidate the organization of genetic network and protein pathways and establish how they contribute to cellular and organismal phenotypes
  • Develop a detailed understanding of the heritable variation in the human genome
  • Understand evolutionary variation across species and the mechanisms underlying it
  • Develop policy options that facilitate the widespread use of genome information in both research and clinical settings

Grand challenges of genomics to health

  • Develop robust strategies for identifying the genetic contributions to disease and drug response
  • Develop strategies to identify gene variants that contribute to good health and resistance to disease
  • Develop genome-based approaches to prediction of disease susceptibility and drug response, early detection of illness, and molecular taxonomy of disease states
  • Use new understanding of genes and pathways to develop powerful new therapeutic approaches to disease
  • Investigate how genetic risk information is conveyed in clinical settings, how that information influences health strategies and behaviors, and how these affect health outcomes and costs
  • Develop genome-based tools that improve the health of all

Grand challenges of genomics to society

  • Develop policy options for the uses of genomics in medical and non-medical setting
  • Understand the relationships between genomics, race and ethnicity, and the consequences of uncovering these relationships
  • Understand the consequences of uncovering the genomic contributions to human traits and behaviours
  • Assess how to define the ethical boundaries for uses of genomics

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