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PubMed1993

The Human Genome Project. History, goals, and progress to date.

This article presents an overview of the Human Genome Project. The goals of the program are outlined; the genetic, physical, and DNA sequence maps that will be its products are defined; the brief origins of the project are traced; the management structure of the US Human Genome Project, in which the Department of Energy and the National Institutes of Health participate as partners, is outlined; international dimensions are discussed; the excellent progress to date with respect to each of the eight scientific goals is reported; and the projected impact of the project on biology and medicine is discussed.

Chromosome Mapping↗
PubMed1997

The Human Genome Project: view from the Department of Energy.

The Human Genome Project (HGP), a research effort initiated by the Department of Energy (DOE) and jointly managed by the National Institutes of Health (NIH) and the DOE, will determine a representative (but complete) sequence of the DNA from a typical human cell. This information and the associated resources will help us understand the critical differences that make us individuals and lead to insights into many areas of medicine, biology, and biotechnology. The HGP was conceived because DOE and its predecessor agencies had a longstanding interest in developing more sensitive methods to detect genetic changes induced by ionizing radiation and to understand the related health effects. Additionally, the unique capabilities and resources of the DOE national laboratory system, including a multidisciplinary research environment, high-skill engineering and high-performance computing centers fostered the ideal conditions for the success of such an ambitious undertaking. Knowing the human genome will revolutionize the practice of biology in the next century with far-reaching implications to health care and sustainable development. In a novel departure from previous science programs, the Human Genome Project includes a subprogram devoted to the ethical, legal, and societal implications (ELSI) of human genome research.

Government Agencies↗
PubMed2002

Effect of the human genome project on the practice of adolescent medicine.

As the Human Genome Project nears completion, anticipation and speculation about its effects on the practice of medicine have increased. This chapter explores the various ramifications of the Human Genome Project on the practice of adolescent medicine in particular. The potential uses of genetic discoveries for diagnosis, prediction, and perhaps treatment are discussed. In addition to potential benefits from the completion of the Human Genome Project, however, drawbacks and pitfalls also are anticipated, particularly in the areas of confidentiality and insurability.

Adolescent↗
PubMed1998

[The Human Genome Project and its consequences for surgery].

The Human Genome Project is an international effort to discover all 80,000 genes of the human genome and to determine the complete sequence of the three billion basepairs of the human DNA. Chromosome mapping enables fragmentation of large DNA pieces, sequencing of the resulting small fragments and realignment in the order in which they originally occurred in the chromosomes. Identification of genes involved in various benign and malignant diseases will lead to the understanding of their action and will result in prevention-based medical approaches. In addition, novel therapeutic regimens will be devised based on human gene products. Decipherment of the genetic programs of embryogenesis will enable regeneration of various tissues without the formation of scars.

Animals↗
PubMed2003

Impact of the human genome project on pediatric endocrinology.

A genomic approach to human biology involves examination of the entire complement of human genes and their protein products in contradistinction to the conventional phenomena-driven examination of individual components, one at a time. This approach may have limitations, but it also has the potential to increase our knowledge by an order of magnitude or more. It is expected that it will leave no field of biology and medicine unaffected, and this includes endocrinology. The structural and functional aspects of the human genome are reviewed, and the nature of the novel knowledge from the genome effort (acquired or expected) is described. More importantly, an overview is given of new ways of thinking and new approaches to endocrine research using genomic concepts and tools. Although these research breakthroughs have relatively few applications in clinical practice at the present moment, the clinician must expect drastic changes in diagnostics and therapeutics in the next decade or two, and endocrine- specific examples of such applications are given. Finally, the question is raised of social and ethical issues that these developments are generating.

Child↗
PubMed1993

Medical genetics and the Human Genome Project: a historical review.

The $3 billion, 15-year international project to map out the nucleotide sequence of the entire human genome could revolutionize medical care in the 21st century. The location, makeup, and function of the 50,000 to 100,000 human genes could lead to tailor-made therapies not only for treating diseases but for preventing them. There may be a major role for the genetic engineer in the practice of medicine. On the other hand, the technology could identify people with undesirable genetic profiles who may be subject to discrimination by insurance companies, employers, and others. Physicians who fail to perform genetic screening may face malpractice suits for wrongful births. This article traces the historical evolution of our knowledge regarding medical genetics from the Talmud to the present day.

Genetics, Medical↗
PubMed1995

Sickle cell screening policies as portent: how will the human genome project affect public sector genetic services?

The Human Genome Project holds much promise for providing dramatic improvements in our understanding of and means to diagnose and treat many diseases. As this enormously important endeavor proceeds, research on ethical, legal, and social implications of this new science is being conducted to forecast problems and recommend policy option solutions to avoid what might otherwise become adverse consequences. Sickle cell screening is an example of a technology that was introduced in a manner that raised poignant issues. On the basis of sickle cell issues, we examined policy issues likely to occur as new genetic technologies are incorporated into medical practice. Discussion and development of a national consensus on the appropriate content and just delivery of public sector genetic services is vital; otherwise, the impact of Human Genome Project-derived technology may result in misadventures that amplify problems currently evident in newborn screening programs. New DNA-based diagnostic technologies and therapies will soon enter the stream of commerce. The recommendations offered here, while based on examination of sickle cell disease policies, are intended to address both current inequities as well as potential future issues related to stigmatization and distributive justice.

Anemia, Sickle Cell↗
PubMedDate not supplied

[The Human Genome Project and the right to intellectual property].

The Human Genome Project was designed to achieve two objectives. The scientific goal was the mapping and sequencing of the human genome and the social objective was to benefit the health and well-being of humanity. Although the first objective is nearing successful conclusion, the same cannot be said for the second, mainly because the benefits will take some time to be applicable and effective, but also due to the very nature of the project. The HGP also had a clear economic dimension, which has had a major bearing on its social side. Operating in the midst of these three dimensions is the right to intellectual property (although not just this right), which has facilitated the granting of patents on human genes. Put another way, the carrying out of the HGP has required the privatisation of knowledge of the human genome, and this can be considered an attack on the genetic heritage of mankind.

Human Genome Project↗
PubMed2002

The Human Genome Project and the future of diagnostics, treatment and prevention.

The Human Genome Project, the mapping of our 30,000-50,000 genes and the sequencing of all of our DNA, will have major impact on biomedical research and the whole of therapeutic and preventive health care. The tracing of genetic diseases to their molecular causes is rapidly expanding diagnostic and preventive options. The increased insights into molecular pathways, gained from high-throughput 'functional genomics', using DNA-chip and protein-chip approaches and specially designed animal model systems, will open great prospects for pharmacological and genetic therapies. Powerful bioinformatics and biostatistics will further improve our pattern recognition and accelerate progress. A rapidly expanding area of high expectations is that of 'pharmacogenomics': the design of more effective drugs with lower toxicity through tailoring of drug treatment to individual, genetically determined differences in drug metabolism. Not only will this decrease the cost of health care through reduction of adverse drug reactions, but a better stratification of populations will also provide more statistical power farther upstream in drug trials. However, the optimal benefits from the current explosion of 'data mining' will only be realized when the basic data are made and kept publicly accessible, while at the same time safeguarding the protection of intellectual property arising from downstream inventions. This is one of the goals of HUGO, the international Human Genome Organization, established 13 years ago to assist coordination of data acquisition and exchange and societal implementation of the genome project. Additional points of attention in this historic endeavour are the prevention of stigmatization and discrimination and the safeguarding of a worldwide balance in the contribution by--and benefits to--different populations, while respecting the diversity in cultures and traditions.

Ethics, Medical↗