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From Mendel to the Human Genome Project: the implications for nurse education.

The Human Genome Project has heralded a whole new era in our understanding of the molecular basis of disease. New opportunities now arise to predict disease by genetic testing, and in some cases to prevent disease through surveillance or other specific interventions. Increasingly it will be possible to test for predisposition to disease, to develop new treatments or to tailor available treatments more specifically to an individual's genetic make-up. Midwives and paediatric nurses are at the forefront of these developments with new national antenatal and neonatal genetic screening programmes due to be implemented by 2004. However, in the near future it is likely that nurses in most clinical areas will encounter genetic aspects of their practice. If they are to capitalise on opportunities offered by the new genetics, health professionals will need to become knowledgeable and skilled in genetics. They will need to understand something of the basic science and also develop an awareness of many ethical, legal and social aspects. In the light of a recent review of education in genetics for health professionals, the Department of Health and The Wellcome Trust have commissioned a process to develop a programme of education for the United Kingdom.

Education, Nursing↗

The human genome project: opportunities, challenges and consequences for population screening.

It is widely agreed that the Human Genome Project represents one of the most successful international collaborative research efforts of the last millennium. The fruits of the Human Genome Project have paved the way for a revolution in future health care, built on the foundations of an improved understanding of the molecular pathogenesis of human disease, and new and emerging technologies that will allow the rapid throughput of sophisticated gene-based testing. In this review some practical examples of these advances will be outlined, touching on such areas as pharmacogenetics, pharmacogenomics, and microarray technologies. In addition, some of the legal, ethical and social issues that have arisen from the Human Genome Project will be discussed. It is argued that in embracing the new knowledge afforded by the Human Genome Project, we must maintain a cautious approach to help minimise the potential risks in order to reap the potentially enormous benefits to society.

Human Genome Project↗

Implications of the Human Genome Project for obstetrics and gynecology.

The initial sequencing of the human genome should be regarded as a milestone in a road that stretches years into the future; the full ramifications of the Human Genome Project are still only being theorized. Researchers will benefit from the catalog of human genes in studies of the genetics of disease susceptibility and the cell biology of gene interactions. Clinicians will increasingly offer genetic or biochemical testing to identify those at highest risk for a number of diseases. Drug discovery will eventually follow newly possible studies of gene expression and protein function. However the Human Genome Project eventually shapes medicine, it is certain that physicians, particularly obstetricians and gynecologists, will need to be well versed in the scientific and ethical issues involved, inasmuch as we will likely be at the center of the most heated debates.

Cell Communication↗

The human genome project. Prospects and implications for clinical medicine.

The recently initiated human genome project is a large international effort to elucidate the genetic architecture of the genomes of man and several model organisms. The initial phases of this endeavor involve the establishment of rough blueprints (maps) of the genetic landscape of these genomes, with the long-term goal of determining their precise nucleotide sequences and identifying the genes. The knowledge gained by these studies will provide a vital tool for the study of many biologic processes and will have a profound impact on clinical medicine.

Chromosome Mapping↗

The Human Genome Project: creating an infrastructure for biology and medicine.

The Human Genome Project (HGP) is an international effort to map and sequence the human genome. It combines skills from diverse fields of biological and technological research, thus establishing deeper interactions between scientific disciplines. The combination of these skills should stimulate many advances in both pure and applied fields of research and give rise to new, interdisciplinary training programs. Some critics say that the HGP will damage biomedical research; however, we argue that it will bring new funds to the field and create a large ripple effect by providing new research opportunities through its discoveries.

Chromosome Mapping↗

The Human Genome Project and health behavior and health education research.

The Human Genome Project (HGP) is a multinational initiative to map and sequence the human genome. This major biological research effort, estimated to take 15 years and cost $3 billion, should have significant implications for public health generally, and for health behavior and health education research in particular. It is anticipated that the HGP research will lead to expanded (1) newborn genetic disease screening, (2) prenatal diagnoses and (3) trait carrier screening. The HGP also is likely to lead to presymptomatic screening of people with late onset genetic diseases, as well as screening for genetic-based susceptibility for common disease morbidity and mortality mediated by either or both life style and environmental factors. These potential developments have raised ethical, legal and social questions, and have highlighted the fact that research is needed on individual, organizational, population and governmental use of and response to these developments. Central to the expanding role of genetics in public health will be health behavior and education research. Such research could contribute to an effective and humane applied human genetics.

Ethics, Medical↗

Screening workers for genetic hypersusceptibility: potential ethical, legal, and social implications from the Human Genome Project.

One of the potential outcomes of the Human Genome Project will be the ability to identify individuals who are at increased risk of adverse health effects following exposure to hazardous substances in the workplace because of genetic hypersusceptibility. The ability to identify such individuals is likely to lead to the inclusion of genetic screening in worker protection programs. This technology and its applications will have a number of potential ethical, legal, and social implications. In this commentary, the authors examine five broad topics relating to the use of screening for genetic hypersusceptibility in the workplace: (1) issues of risk; (2) the rationale and legal basis for screening; (3) the privacy concerns of workers; (4) the confidentiality of test results; and (5) potential discrimination. The authors close by suggesting some guidelines for developing policies regarding genetic screening.

Bioethics↗

[The Human Genome Project, genetic viability and genetic epidemiology].

The goal of the Human Genome Project to elucidate the complete sequence of the human genome has been achieved. The aims of the "post-genome" era are explaining the genetic information, characterisation of functional elements encoded in the human genome and mapping the human genetic variability as well. Two unrelated human beings also share 99.9% of their genomic sequence. The difference of 0.1% is the result of genetic polymorphisms: single nucleotide polymorphisms, repetitive sequences and insertion/deletion. The genetic differences, coupled with environmental exposures will determine the phenotypic variation we observe in health or disease. The disease-causing genetic variants can be identified by linkage analysis or association studies. The knowledge of human genome and application of multiple biomarkers will improve our ability to identify individuals at risk, so that preventive interventions can be applied, earlier diagnosis can be made and treatment can be optimized.

Early Diagnosis↗