Box 1. Human Genome Project Goals for 1998–2003
| • Goal 1: The Human Genome Sequence |
| a. Complete the human genome sequence by end of 2003 |
| b. Complete one-third of the human genome by end of 2001 |
| c. 90% coverage of genome in working draft with mapped clones by end of 2001 |
| d. Make entire sequence freely accessible |
| • Goal 2: Sequence Technology |
| a. Increase throughput and reduce cost of sequencing technology |
| b. Support novel technology research that can lead to significant improvement in sequencing technology |
| c. Development of methods for introduction of new technologies into sequencing process |
| • Goal 3: Sequence Variation |
| a. Develop technologies for rapid, large-scale identification of SNPs or other DNA sequence variants |
| b. Identify common variants in coding regions of the majority of identified genes |
| c. Create 100,000-marker SNP map of the human genome |
| d. Develop intellectual foundations for studies of sequence variation |
| e. Create public DNA sample and cell line resources that are totally anonymous and carry appropriate restrictions to maintain their anonymity (Establishment of separate, appropriately marked sample resources after taking into account issues examined in Goal 6) |
| • Goal 4: Functional Genomics Technology |
| a. Create cDNA resources of both human and model organisms |
| b. Develop improved technologies for analysis of noncoding sequences |
| c. Generate methods and technologies for comprehensive analysis of gene expression |
| d. Develop technologies for creating genome-wide mutations and analyzing the results |
| e. Develop experimental and computational means for global protein analysis |
| • Goal 5: Comparative Genomics |
| a. Complete the C. elegansgenome sequence in 1998 |
| b. Complete the Drosophilagenome sequence by 2002 (or earlier because of anticipated work in the private sector) |
| c. Develop genomic resources for the mouse |
| i. Develop an integrated physical and genetic map |
| ii. Develop cDNA resources |
| iii. Complete the mouse genome sequence by 2008 (or earlier given lessons and new technologies from Goals 1 and 2) |
| d. Identify other model organisms of great use to understanding the human genome or that will significantly aid in other genomic studies |
| • Goal 6: Ethical, Legal, and Social Implications (ELSI) |
| a. Analyze implications resulting from extensive information about human sequence and its variation |
| b. Examine issues involved in integration of genetic technologies and information into health care and public health activities |
| c. Examine issues involved in integration of knowledge about genomics and gene-environment interactions into nonclinical and research settings |
| d. Explore interaction of genetic knowledge, philosophy, theology, and ethics |
| e. Explore ways in which racial, ethnic, and socioeconomic issues affect genetic research, services, and policy development |
| • Goal 7: Bioinformatics and Computation Biology |
| a. Improve database content and utility |
| b. Develop better tools for data generation, capture, and annotation |
| c. Develop and improve tools and databases for comprehensive functional studies |
| d. Develop and improve tools for representing and analyzing sequence similarity and variation |
| e. Develop and support effective approaches to produce robust, exportable software that can be widely shared |
| • Goal 8: Manpower and Training |
| a. Nurture training of scientists skilled in genomics research |
| b. Encourage establishment of academic career paths for genomic scientists |
| c. Increase number of scholars with knowledge in both genomic and genetic sciences and in ethics, law, or social sciences |
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Information obtained from draft of the New Goals for the U.S. Human Genome Project 1998–2003, as provided at the September 14, 1998 public forum meeting of the NHGRI advisory council. Complete content available in the October 23, 1998 issue of Science.
