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