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A Vision for the Future of Genomics Research: A Blueprint for the Genomic Era

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Part VII

Ethical, Legal, and Social Research

The NHGRI's ELSI research activities will increasingly focus on fundamental, widely relevant, societal issues. The community of scholars and researchers working in these social fields, as well as the scope of issues being explored, need to be expanded. The ELSI research community must include individuals from minority and other communities that may be disproportionately affected by the use or misuse of genetic information. New mechanisms for promoting dialogue and collaboration between the ELSI researchers and genomic and clinical researchers need to be developed; such mechanisms might include structural rewards for interdisciplinary research, intensive summer courses, or mini-fellowships for cross-training, and the creation of centers of excellence in ELSI studies to allow sustained interdisciplinary collaboration.

Longitudinal Population Cohort(s)

This promising research resource will be so broadly applicable, and will require such extensive funding that, although the NHGRI might have a supporting role in design and oversight, success will demand the involvement and support of many other funding sources.

Non-Genetic Factors in Health and Disease

A consequence of an improved definition of the genetic factors underlying human health and disease will be an improvement in the recognition and definition of the environmental and other non-genetic contributions to those traits. This is another area in which the NHGRI will be involved through the development of new strategies and by forming partnerships.

Use of Genomic Information to Improve Health Care

The NHGRI will catalyse collaboration between the diverse scholarly disciplines whose joint efforts will be necessary for research on the best ways for patients and healthcare providers to make effective use of personalized genetic information in the improvement of health. The NHGRI will also strive to ensure that research in this area is informed by, and extends knowledge of, the societal implications of genomics.

Improving the Health of All People

It will be important for the NHGRI to support research that explores how to ensure that genomic information is used, to the extent that such information is relevant, to reduce global health disparities. That will include a vigorous effort to increase the representation of minorities in the ranks of genomics researchers. But the full solution of the health disparities problem can only come about through a committed and sustained effort by governments, medical systems, and society.

Policy Development

The NHGRI will continue to help facilitate public-policy development in the area of genetic/genomic science. Effective policy development will require attention to those issues for which it could have the greatest impact on the policy agenda and could help to facilitate genomic science. The NHGRI will also focus on issues that would assist the public in benefiting from genomics, such as privacy of genetic information; access to genetics services; direct-to-consumer/providers marketing, patenting, and licensing of genetic information; appropriate treatment of human participants in research; and standards, usefulness, and quality in genetic testing.

Data Release

An important lesson of the HGP has been the benefit of immediately releasing data from large-scale sequencing projects, as embodied in the Bermuda principles( Some other large-scale data production projects have followed suit (such as those for full-length cDNAs and single-nucleotide polymorphisms), to the benefit of the scientific community. Scientific progress and public benefit will be maximized by early, open, and continuing access to large data sets and by ensuring that excellent scientists are attracted to the task of producing more resources of this sort. For this system to continue to work, the producers of community resource data sets have an obligation to make the results of their efforts rapidly available for free and unrestricted use by the scientific community, and resource users have an obligation to recognize and respect the important contribution made by the scientists who contribute their time and efforts to resource production.

Although these principles have been generally realized in the case of genomic DNA sequencing, they have not been for many other types of community-resource projects (structural biology coordinates or gene expression data, for example). The development of effective systems for achieving the rapid release of data without restrictions and for providing continued widespread access to materials and research tools should be an integral component of the planning and development of new community resources. The scientific community should also develop incentives to support the voluntary release of such data before publication by individual investigators, by appropriately rewarding and protecting the interests of scientists who wish to share their data with the community in such a generous manner.

Quantum Leaps

It is interesting to speculate about potential revolutionary technical developments that might enhance research and clinical applications in a fashion that would rewrite entire approaches to biomedicine. The advent of the polymerase chain reaction, large-insert cloning systems, and methods for low-cost, high-throughput DNA sequencing are examples of such advances that have already occurred.

During the course of the NHGRI’s planning discussions, other ideas were raised about analogous ''technological leaps'' that seem so far off as to be almost fictional but which, if they could be achieved, would revolutionize biomedical research and clinical practice.

The following is not intended to be an exhaustive list, but to provoke creative dreaming:

  • The ability to determine a genotype at very low cost, allowing an association study in which 2,000 individuals could be screened with about 400,000 genetic markers for $10,000 or less;
  • The ability to sequence DNA at costs that are lower by four to five orders of magnitude than the current cost, allowing a human genome to be sequenced for $1,000 or less;
  • The ability to synthesize long DNA molecules at high accuracy for $0.01 per base, allowing the synthesis of gene-sized pieces of DNA of any sequence for between $10 and $10,000;
  • The ability to determine the methylation status of all the DNA in a single cell; and
  • The ability to monitor the state of all proteins in a single cell in a single experiment.


Preparing a vision for the future of genomics research has been both daunting and exhilarating. The willingness of hundreds of experts to volunteer their boldest and best ideas, to step outside their areas of self-interest and to engage in intense debates about opportunities and priorities, has added a richness and audacity to the outcome that was not fully anticipated when the planning process began. To the extent that this article captures the sense of excitement of the new discipline of genomics, it is to their credit. A complete list of the participants in this planning process can be found at

A final word is appropriate about the breadth of the vision articulated here. A choice had to be made between portraying a broad view of the future of genomics research and focusing more narrowly on the specific role of the NHGRI. Recognizing that researchers and the public are more interested in the promise of the field than about the funding source responsible, we have focused here on the broad landscape of scientific opportunity. We have, however, identified the areas that are particularly appropriate for leadership by the NHGRI throughout this article. These are generally research areas that are not specific to a particular disease or organ system, but have broader biomedical and/or social implications. Yet even in those instances, the word ''partnership'' appears numerous times intentionally. We expect to have partnerships not only with other public funding sources, such as the other 26 NIH institutes and centers, but also with many other governmental agencies, private foundations, and private-sector organizations. Indeed, public–private partnerships, such as the SNP Consortium, the Mouse Sequencing Consortium, and the International HapMap Project, provide powerful new models for the generation of public data sets with immediate and far-reaching value. Thus, many of the most exciting opportunities in genomics research cross traditional boundaries of specific disease definitions, classically defined scientific disciplines, funding sources, and public versus private enterprise. The new era will flourish best in an environment where such traditional boundaries become ever more porous.

Although the opportunities described here are thought to be highly achievable, the formal initiation of specific programmes will require more detailed analysis. The relative priorities of each component must be addressed in the light of limited resources to support research. The NHGRI plans to release a revised programme announcement and other grant solicitations later this year, providing more specific guidance to extramural researchers about plans for the implementation of this vision. Furthermore, in genomics research, we have learned to expect the unexpected. From past experience, it would be surprising (and rather disappointing) if biological, medical, and social contexts did not change in unpredictable ways. That reality requires that this vision be revisited on a regular basis.

In conclusion, the successful completion this month of all of the original goals of the HGP emboldens the launch of a new phase for genomics research, to explore the remarkable landscape of opportunity that now opens up before us. Like Shakespeare, we are inclined to say, ''what’s past is prologue'' (The Tempest, Act II, Scene 1). If we, like bold architects, can design and build this unprecedented and noble structure, resting on the firm bedrock foundation of the HGP (Figure 2), then the true promise of genomics research for benefiting humankind can be realized.

''Make no little plans; they have no magic to stir men’s blood and probably will themselves not be realized. Make big plans; aim high in hope and work, remembering that a noble, logical diagram once recorded will not die, but long after we are gone will be a living thing, asserting itself with ever-growing insistency'' (attributed to Daniel
Burnham, architect).

Francis S. Collins, Eric D.Green, Alan E. Guttmacher and Mark S.Guyer are at the National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.


The formulation of this vision could not have happened without the thoughtful and dedicated contributions of a large number of people. The authors were greatly assisted by Kathy Hudson, Elke Jordan, Susan Vasquez, Kris Wetterstr, and Darryl Leja and Robert Nussbaum. A subcommittee of the National Advisory Council for Human Genome Research, including Wylie Burke, William Gelbart, Eric Juengst, Maynard Olson, Robert Tepper, and David Valle, provided a critical sounding board for draft versions of this document. We also thank Aravinda Chakravarti, Ellen Wright Clayton, Raynard Kington, Eric Lander, Richard Lifton, and Sharon Terry for serving as working-group chairs at the meeting in November 2002 that refined this document. Finally, we thank the hundreds of individuals who participated as workshop planners and/or participants during this 18-month process.

Courtesy: National Human Genome Research Institute
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