HUMAN GENOME

New Goals for the U.S.

 Human Genome Project: 1998-2003

Francis S. Collins*,
Ari P

 Francis S, Collins, Ari Patrinos, Elke Jordan, 

Aravinda Chakravarti, 

Raymond Gesteland, 

LeRoy Walters, 

the members of the DOE and NIH planning groups

The Human Genome Project (HGP) is fulfilling its promise as the single most important project in biology and the biomedical sciences—one that will permanently change biology and medicine. With the recent completion of the genome sequences of several microorganisms, including Escherichia coli andSaccharomyces cerevisiae, and the imminent completion of the sequence of the metazoan Caenorhabditis elegans, the door has opened wide on the era of whole genome science. The ability to analyze entire genomes is accelerating gene discovery and revolutionizing the breadth and depth of biological questions that can be addressed in model organisms. These exciting successes confirm the view that acquisition of a comprehensive, high-quality human genome sequence will have unprecedented impact and long-lasting value for basic biology, biomedical research, biotechnology, and health care. The transition to sequence-based biology will spur continued progress in understanding gene-environment interactions and in development of highly accurate DNA-based medical diagnostics and therapeutics.

Human DNA sequencing, the flagship endeavor of the HGP, is entering its decisive phase. It will be the project's central focus during the next 5 years. While partial subsets of the DNA sequence, such as expressed sequence tags (ESTs), have proven enormously valuable, experience with simpler organisms confirms that there can be no substitute for the complete genome sequence. In order to move vigorously toward this goal, the crucial task ahead is building sustainable capacity for producing publicly available DNA sequence. The full and incisive use of the human sequence, including comparisons to other vertebrate genomes, will require further increases in sustainable capacity at high accuracy and lower costs. Thus, a high-priority commitment to develop and deploy new and improved sequencing technologies must also be made.

Availability of the human genome sequence presents unique scientific opportunities, chief among them the study of natural genetic variation in humans. Genetic or DNA sequence variation is the fundamental raw material for evolution. Importantly, it is also the basis for variations in risk among individuals for numerous medically important, genetically complex human diseases. An understanding of the relationship between genetic variation and disease risk promises to change significantly the future prevention and treatment of illness. The new focus on genetic variation, as well as other applications of the human genome sequence, raises additional ethical, legal, and social issues that need to be anticipated, considered, and resolved.

The HGP has made genome research a central underpinning of biomedical research. It is essential that it continue to play a lead role in catalyzing large-scale studies of the structure and function of genes, particularly in functional analysis of the genome as a whole. However, full implementation of such methods is a much broader challenge and will ultimately be the responsibility of the entire biomedical research and funding communities.

Success of the HGP critically depends on bioinformatics and computational biology as well as training of scientists to be skilled in the genome sciences. The project must continue a strong commitment to support of these areas.

As intended, the HGP has become a truly international effort to understand the structure and function of the human genome. Many countries are participating according to their specific interests and capabilities. Coordination is informal and generally effected at the scientist-to-scientist level. The U.S. component of the project is sponsored by the 

National

 Human Genome Research Institute at the

National

 Institutes of Health (NIH) and the Office of Biological and Environmental Research at the Department of Energy (DOE). The HGP has benefited greatly from the contributions of its international partners. The private sector has also provided critical assistance. These collaborations will continue, and many will expand. Both NIH and DOE welcome participation of all interested parties in the accomplishment of the HGP's ultimate purpose, which is to develop and make publicly available to the international community the genomic resources that will expedite research to improve the lives of all people.

The Planning Process

The last 5-year plan for the HGP, published jointly by NIH and DOE in 1993 (1), covered fiscal years 1994 through 1998. The current plan is again a joint effort and will guide the project for fiscal years 1999 through 2003.

The goals described below have resulted from a comprehensive planning and assessment process that has taken place over the past year in both agencies. Each agency identified a group of advisors to oversee its process, and eight workshops were held to address specific areas of the plan. A large number of scientists and scholars as well as public representatives participated in these events, including many who had no historical ties to the HGP. Comments were also sought from an extensive list of biotechnology and pharmaceutical companies. A draft of the goals was presented for evaluation at a public meeting in May 1998. Suggestions and comments from that meeting were incorporated into the plan. Finally, the new goals were reviewed and approved by the National Advisory Council for Human Genome Research at NIH and the Biological and Environmental Research Advisory Committee at DOE. Summaries of the workshops that contributed to this plan are available atwww.nhgri.nih.govand www.ornl.gov/hg5yp

Specific Goals for 1998–2003

The following sections outline eight major goals for the HGP over the next 5 years. Table 1 provides an overview of the quantifiable features of these new goals and compares them to the goals from 1993. Information on accomplishment of the 1993 goals is also included. Figure 1describes the funding the U.S. HGP received to date.(...)

REFERENCES AND NOTES

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   The finished genome sequence refers to the portion of human DNA that can be stably cloned and sequenced by current technology. The small proportion of highly repeated sequence represented by the centromeres and other constitutive heterochromatic regions of the genome may not be finished by 2003. In addition, it is possible that a small fraction of other parts of the genome may present unanticipated and serious challenges. Such regions are expected to be rare.
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   . A whole-genome shotgun strategy has been proposed previously [J. Weber and E. W. Myers, Genome Res. 7, 401, but major concerns have been raised (P. Green, ibid., p. 410), about the difficulties expected in obtaining correct long-range contig assemblies. It will not be possible to evaluate the feasibility, impact, or quality of the product of this approach until more data are available, which is not estimated to occur for about 12 to 18 months. See also
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7. The members of the planning groups are: NIH scientific planning subcommittee–Aravinda Chakravarti, chair, Eric Fearon, Lee Hartwell, Charles H. Langley, Richard A. Mathies, Maynard Olson, Anthony J. Pawson, Thomas Pollard, Alan Williamson, Barbara Wold; DOE planning subcommittee–Raymond Gesteland, chair, Kenneth Buetow, Elbert Branscomb, Mario Capecchi, George Church, Harold Garner, Richard A. Gibbs, Trevor Hawkins, Keith Hodgson, Michael Knotek, Miriam Meisler, Gerald M. Rubin, Lloyd M. Smith, Randall F. Smith, Monty Westerfield; NIH-DOE ELSI Research Planning and Evaluation Group–LeRoy Walters, chair, Ellen Wright Clayton, Nancy L. Fisher, Caryn E. Lerman, Joseph D. McInerney, William Nebo, Nancy Press, David Valle. The members of these groups have contributed substantially to this plan but have not necessarily approved every word in it. In addition to the authors, this plan represents the combined efforts of a large number of consultants, including all the participants in the numerous workshops that were conducted as part of the planning process. We are deeply indebted to them for the time and expertise they contributed so generously to this effort.

http://www.sciencemag.org/content/282/5389/682.full  
30/09/2014

Task 3

      Tres afirmaciones que sé sobre el texto:

A fines de la década del 80 y principios del 90 se comienza con este proyecto que implica conocer más sobre la información contenida en nuestros genes, en particular patologías genéticas.

Conociendo el mapa genético humano se conoce todo sobre la vida biológica de los individuos, su familia y antecesores.

Luego de ser descubierto se dieron grandes discusiones vinculadas a lo Bioético, que atraviesa lo moral sobre este conocimiento.

      Tres preguntas genuinas…

¿Qué implica en profundidad el genoma humano?

¿Quiénes realizan este estudio y a quiénes se les puede realizar?

¿Cuál es la normativa que lo ampara a los individuos que pueden ser expuestos a este estudio?