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Human Genome News Archive Edition

Human Genome News, July 1993; 5(2)

Future Directions of Human Genome Project Considered

The NIH National Center for Human Genome Research (NCHGR) held a meeting in Hunt Valley, Maryland, April 23-24 as part of its process for developing a research plan for the next phase of the Human Genome Project. The meeting was intended to (1) appraise project accomplishments likely to be achieved by the end of the initial 5-year phase; (2) generate creative and novel ideas for building on this progress to meet long-range goals; and (3) consider ways in which the project can most effectively and broadly benefit present and future research in biology and medicine. Participants included members of the genome research community and of disciplines most likely to use the technology generated by the Human Genome Project.

This summary article highlights major points that were discussed at the meeting, which was not intended to achieve consensus or establish final priorities. An executive summary and a set of more-detailed minutes will be submitted to the NIH-DOE planning group responsible for formulating the plan for the next phase of the genome project, beginning with fiscal year 1994.


Genetic Mapping. Many meeting participants said linkage mapping should continue to be an important goal. As the high-resolution (2-to 5-cM) map is "completed," continued improvement in the type and quality of informative markers will be necessary. Linkage maps will continue to be important for a number of studies, they said, such as mapping disease genes, identifying the genetic basis for complex diseases, and studying variables that affect recombination itself. In addition, telomeres for each chromosome need to be cloned and included in linkage maps. A number of participants also stated that physical maps are the best way to help fill gaps in linkage maps, particularly as the resolution of linkage maps increases.

Physical Mapping. Attendees suggested that a sequence tagged site (STS) map with 200- to 300-kb resolution would be as useful as the current goal of 100-kb resolution. Improved technology, such as much bigger clones and contigs than originally anticipated, make the lower-resolution map as valuable as the higher-resolution one.

Specifying a particular cloning or vector system for achieving physical mapping goals is not important at this time, those present said. In the next phase of the genome project, high-resolution physical maps containing sequencing information will be more important than a sequence-ready clone collection because vector technology for sequencing may change. Planners should expect that chromosome maps will continue to develop in a "bimodal" way, with some genomic regions mapped in greater detail than others. Differences in detail will primarily reflect the degree of annotation, not resolution.

Attendees also suggested that individual scientific communities need to be more involved in distributing resources generated by the genome project, especially physical mapping resources. Investigators in user communities, who will be the beneficiaries of such resources, must mount concerted efforts to help obtain necessary financial and organizational support, including opportunities for commercial distribution.

Sequencing. Participants gave strong support to proceeding with the complete sequencing of human and model-organism DNA as identified in the initial 5-year plan. They agreed that the overall technical goal is to build systems that can permit the rapid sequencing of various genomes at a reasonable cost. Such improved technology is important because the ensuing biological questions will demand comparisons between genomes of different species or individuals. Model-organism research is critical, and determining genomic sequence for most model organisms is now cost-effective.

Sequencing the mouse genome should not be viewed in the same context as other model organisms, participants said. Instead, mouse and human DNA should be sequenced side by side to take advantage of comparisons and provide guidance in areas such as noncoding sequence. If the technologies developed are robust enough to sequence the human genome efficiently, sequencing the mouse genome should not significantly increase the effort.

Those present affirmed that NCHGR should maintain its focus on developing technology for large-scale sequencing. Significant investment in 1993 instrumentation might "lock in" this technology and inhibit development of more-efficient methodologies for the future. Systems need to be investigated for integrating front-end sample preparation with data collection and back-end analysis.

Attendees also noted that the technology for accurate, full-length cDNA sequencing shares some important similarities and differences with that needed for genomic sequencing. The genome project should be neutral, they said, on sequence production from genomic DNA versus full-length cDNA, as long as data quality is good, information content is high, and tracts of contiguous sequence are long. In contrast, big differences were considered to exist between expressed sequence tag (EST) generation and genomic sequencing. Some groups will continue to gather short sequences from many expressed sequences, thus effectively maximizing the identification of expressed genes. Development of strategies for rapid, efficient incorporation of existing ESTs into STS-based physical maps should, however, be considered.

Ethical, Legal, and Social Implications. Participants observed that anticipating and addressing ethical, legal, and social implications (ELSI) of genome research will become more important as disease-gene mapping expands and improved sequencing technology makes available more-refined molecular diagnostics. The major challenge in this area is the effective integration of ELSI research results into professional and public policymaking on genetic issues. An initial step would be to conduct a "meta-analysis" of the ELSI portfolio to draw out policy-oriented findings. A second step would be to work with appropriate professional and lay constituencies to create and communicate viable policy options.

Some of those present stated that the genomics community can be particularly helpful in facilitating ELSI policy development in areas such as intellectual property and commercialization and the responsible transition from basic research to clinical applications of genetic findings. Increased interaction should be fostered among ELSI researchers, constituencies, and the "bench" genomics community, so that well-informed views can be articulated.

Attendees felt that solutions to some issues will bring others to the surface. Health care reform efforts, for example, may inhibit genetic discrimination by insurers but exacerbate genetic-privacy issues by making medical records more accessible within the health care system. Public policy approaches to these issues can take advantage of other related work such as the Americans with Disabilities Act or efforts to preserve the privacy of medical records.

Participants agreed that education in genetics and associated issues is of paramount importance for both the general public and health care professionals. In addition to funding public education, influencing national science education policy should be an ELSI goal.

As policymaking on genetic issues spreads farther into professional and governmental spheres, better methods will be needed for disseminating ELSI research information. One approach suggested was an accessible topical database to provide users with information relevant to clinical and public policymaking.

Some future issues that will expand the range of ELSI perspectives were noted. For example, international DNA-sampling projects require cross-cultural sensitivity to the social implications of genetic identity; the psychosocial impact of new reproductive genetic tests must be assessed for people with disabilities; and responsible reporting of genetic study results means working with both the media and groups of people affected by the information. Outreach efforts to appropriate academic, professional, and lay communities will be important in launching initiatives in these areas.

New Genome Project Goals. In setting priorities for using the available budget, participants encouraged NCHGR and DOE to choose the feasible over the desirable to get the job done. At the same time, they stated, the Human Genome Project can and should provide leadership, expertise, and coordination for research efforts beyond the central goals of mapping and sequencing the genome. The research community must emphasize the efficiency of annotating maps and studying gene function on a chromosome-wide or genome-wide scale rather than in genomic regions of interest for specific diseases. Attendees encouraged NCHGR to pursue coordination among NIH institutes and other agencies for funding such projects.


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Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.

Human Genome News

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.