Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Human Genome Project”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 433 records · Page 24Linked to original sources
PubMed1991

The Human Genome Project: misguided science policy.

Genome mapping and sequencing projects are inappropriate and wasteful expenditures of precious research funds. By focusing on the acquisition of nucleotide sequences, the various genome projects emphasize the products of science over the process of science. It is doubtful that much of the resulting information will provide insights into human diseases or fundamental biological processes. The routine nature of genome sequencing makes it ill-suited for training young scientists. Such projects may also hamper the education of future investigators by diverting research support from universities to genome centers and commercial firms.

Chromosome Mapping↗
PubMed2002

Commercial molecular diagnostics in the U.S.: The Human Genome Project to the clinical laboratory.

Molecular diagnosis is the detection of pathogenic mutations in DNA and RNA samples to aid in detection, diagnosis, subclassification, prognosis, and monitoring response to therapy. Principles underlying nucleic-based diagnosis originate from localization, identification, and characterization of genes responsible for human disease. Clinical molecular genetics is now part of the mainstream of medical care in the United States. All commercial clinical reference laboratories now have a molecular genetic diagnostic unit, many of which are in contractual agreement with third party payers to provide services. Gene discovery provides valuable insight into the mechanisms of disease processes and gene-based markers will enable clinicians to study disease predisposition, as well as improved methods for diagnoses, prognosis, and monitoring of therapy. The broad range of mutation spectrum and type performed in the clinical laboratory requires the use of multiple technologies rather than a single typing platform. Platform choice depends on such diverse factors as local expertise, test volume, economies of scale, R&D budget, and royalties. Test validation is a major hurdle and positive control samples are often not readily available. Oversight and the regulatory environment for clinical molecular genetics laboratories in the United States are evolving rapidly. Several government agencies and private organizations are currently involved in revision of specific laboratory standards, including the Secretary's Advisory Committee on Genetic Testing (SACGT), Food and Drug Administration (FDA), Center for Disease Control (CDC), College of American Pathologists (CAP), American College of Medical Genetics (ACMG), and the individual states.

DNA Mutational Analysis↗
PubMed2001

The Human Genome Project, genetics and health.

Three main reasons why a genetic approach is unlikely to be a solution to common diseases in the foreseeable future are discussed. The first is the great importance of environmental circumstances in determining health, the second reason is the great complexity of gene/gene, gene/environment interactions, and the third reason is human behavior with regard to compliance with medical recommendations. Since particular interests are likely to push for a genetic approach to disease, there will be a need to protect the public interest so that premature and inappropriate use of genetics is not made, and so that a balanced opportunity to better the health of all is not missed.

Environment↗
PubMed1994

[The Bilbao declaration: international meeting on the law concerning the human genome project].

The Bilbao statement was the result of a work meeting, held the day before the closing session by a group of representative experts, formed by general chairmen and meeting organizers. The compelled and necessary consent gave rise to the document that was read and communicated to the world's public opinion during the closing act on may 26, 1993. Notwithstanding, the working group considered that the divulged version was provisory and committed to continue the task of re-elaborating the statement. The aim was to complete and improve it, taking the greatest advantage of the important meeting achievements. The document that is next reproduced is the definitive integral version of the Bilbao Statement. The expert group that takes the responsibility of this Statement is Jean Dausset, Nobel Prize of Medicine (1980); Carleton Gajdusek, Nobel Prize of Medicine (1976); Santiago Grisolía president of UNESCO committee for the Genome Project; Michael Kirby, President of the Court of Appeal of the Supreme Court of New South Wales, Australia; Aaron Klug, member of the Constitutional Council, Paris, France; Rafael Mendizábal, Judge of the Constitutional Court, Madrid, Spain; Juan Bautista Pardo, President of the Superior Court of Justice of the Basque Country and Carlos María Romeo Casabona, Director of the Chair of Law and Human Genome of the University of Deusto (Bilbao).

Ethics, Medical↗
PubMed2001

Implications of the human genome project for the identification of genetic risk of coronary heart disease and its prevention in children.

Most male citizens of Western countries already have some degree of atherosclerosis by the age of 18, indicating that initiation of atherosclerosis in childhood is a virtually ubiquitous process. This process has a strong genetic component. However, identifying the exact nature of that component is not an easy task, because in the overwhelming majority of cases atherosclerosis is due not to disorders in single genes but to the effects of many genes operating together against a variable environmental background. The preliminary results of the sequencing of the human genome indicate fewer genes, but more complexity in the regulation of the expression of these genes, than was previously thought. For these reasons it is likely that prediction and management of atherosclerotic risk in children in the next years will depend not on the results of genetic testing, but on the differentiated analysis of classical risk factors. These issues are discussed in detail in this review.

Arteriosclerosis↗
PubMed2003

The Human Genome Project: considerations for people with intellectual disabilities.

The paper discusses the impact which recent advances in gene technology may have for people with intellectual disabilities. It highlights a conflict between the apparent benefits of advances in genetics for the population in general and the negative effects on persons with intellectual disabilities in particular. This conflict is illustrated in the paper through the use of examples, including the implications of a person's lack of capacity to consent to investigations and treatment; the issue of individual responsibility for antisocial behaviour when this is considered to have a genetic component; and the issue of life and death decisions about treatment in the face of a progressive, genetically determined, disorder. The authors adopt a human rights perspective to discuss these examples because it provides a richness to articulate and justify moral concerns in this area which is lacking in much of the current debate as this is dominated by the primacy of autonomy.

Human Genome Project↗
PubMed2002

The human genome project and its impact on psychiatry.

There has been substantial evidence for more than three decades that the major psychiatric illnesses such as schizophrenia, bipolar disorder, autism, and alcoholism have a strong genetic basis. During the past 15 years considerable effort has been expended in trying to establish the genetic loci associated with susceptibility to these and other mental disorders using principally linkage analysis. Despite this, only a handful of specific genes have been identified, and it is now generally recognized that further advances along these lines will require the analysis of literally hundreds of affected individuals and their families. Fortunately, the emergence in the past three years of a number of new approaches and more effective tools has given new hope to those engaged in the search for the underlying genetic and environmental factors involved in causing these illnesses, which collectively are among the most serious in all societies. Chief among these new tools is the availability of the entire human genome sequence and the prospect that within the next several years the entire complement of human genes will be known and the functions of most of their protein products elucidated. In the meantime the search for susceptibility loci is being facilitated by the availability of single nucleotide polymorphisms (SNPs) and by the beginning of haplotype mapping, which tracks the distribution of clusters of SNPs that segregate as a group. Together with high throughput DNA sequencing, microarrays for whole genome scanning, advances in proteomics, and the development of more sophisticated computer programs for analyzing sequence and association data, these advances hold promise of greatly accelerating the search for the genetic basis of most mental illnesses while, at the same time, providing molecular targets for the development of new and more effective therapies.

Chromosome Mapping↗
PubMed1993

Patenting cDNA 1993: efforts and happenings (Human Genome Project; NIH: US PTO; onco-mouse; European Patents).

The National Institute of Health (NIH) and Dr. J.C. Venter applied for patents for the sequences of cDNA fragments from a brain library. The scientific community objected strenuously on emotional grounds. The NIH argues that these sequences might never be patentable even when completed. The issue became an international one with the British applying for patents to protect their position while the French, Italians and Japanese vowed not to patent cDNA. The United States Patent Trademark Office (US PTO) strongly rejected the NIH's application. The NIH is appealing the decision.

Animals↗
PubMed1999

Whose genes are they? The Human Genome Diversity Project.

The Human Genome Diversity Project (HGDP) has targeted several hundred indigenous peoples worldwide as their source of genetic material. Proponents for this project claim that information derived by analyzing these materials may be used for a variety of purposes ranging from finding a cure for diabetes to resolving debates about human origins. However, the HGDP plan raises many issues for indigenous people. This paper describes the project as well as the possible ethical and policy implications for Native communities.

Cell Line↗
PubMed2003

"What are they going to do with the information?" Latino/Latina and African American perspectives on the Human Genome Project.

New developments in genetic science raise questions regarding their application and implications. Dialogue about these questions has not often included the perspectives of the general population and, in particular, the voices of labeled racial or ethnic groups. In this article, the authors present results from an analysis of data from focus group discussions that engaged African Americans and Latinos/Latinas in a discussion of genetic research and technology. In particular, the authors focus on questions of inequality that arose in those focus groups and their implications for public health professionals interested in addressing pervasive racial disparities in health. In addition, they present strategies for achieving a more equitable distribution of risks and benefits from genetic research and technology suggested by participants in these focus groups.

Adult↗
PubMed2003

The Human Genome Project--threat or promise?

This paper reflects on some of the arguments against screening from the perspective of a relative of individuals with Fragile X syndrome. It proposes to think about intellectual disability (ID) as including a wide range of limitations beyond that of only the mental handicap. It argues that these limitations impose conditions upon both people with disabilities and their parents, as well as upon their siblings, that in various ways amount to suffering. The claim that people with disabilities are enriching the lives of their relatives is rejected. Furthermore, it is argued that those who ascribe a high moral status to people with disabilities tend to neglect that society does not make much of an effort to offer the necessary support to materialize this status. The claim that screening negatively affects the moral status of persons with ID is rebutted on grounds of the freedom of choice.

Disability Evaluation↗
PubMed1999

Homosexuality and the human genome project: private and public choices.

Recent scientific research which offers evidence of genetic and biologic influence in homosexuality has created serious concerns. The intent of this article is to offer suggestions based in principles of bioethics in which perceived negative outcomes may be diminished and the positive qualities of the research enhanced. For a portion of the general population the concerns expressed in this article could be alleviated through public discussion and exposure to the findings and theories of the academic and scientific communities. For another portion of the population, however, additional safeguards against misuse of screening tests and somatic cell interventions may be advisable through efforts initiated by researchers themselves, general public policies, and additional medical policies. While these efforts are recommended as short term goals for the separate scientific and social paradigms of homosexuality, it is proposed that an equally important and related debate involves the subjects of disease, normality and the value of diversity. It is suggested that while it is imperative that the behavioral and biological sciences recognize the limitations of their separate approaches, the reductionist approach itself limits our understanding of what essentially are questions of attraction and relationships. In conclusion, homosexuality should be understood from the perspective of autonomy as every person's right to experience a full and meaningful life.

Choice Behavior↗
PubMed2001

Implications of the Human Genome Project for medical science.

The year 2000 marked both the start of the new millennium and the announcement that the vast majority of the human genome had been sequenced. Much work remains to understand how this "instruction book for human biology" carries out its multitudes of functions. But the consequences for the practice of medicine are likely to be profound. Genetic prediction of individual risks of disease and responsiveness to drugs will reach the medical mainstream in the next decade or so. The development of designer drugs, based on a genomic approach to targeting molecular pathways that are disrupted in disease, will follow soon after. Potential misuses of genetic information, such as discrimination in obtaining health insurance and in the workplace, will need to be dealt with swiftly and effectively. Genomic medicine holds the ultimate promise of revolutionizing the diagnosis and treatment of many illnesses.

Human Genome Project↗