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2
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0003491133
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World Medical Association: Declaration of Helsinki - Ethical Principles for Medical Research Involving Human Subjects. 2000; World Wide Web URL: http://www.wma.net/e/policy/b3.htm The World Medical Association has developed the Declaration of Helsinki as a statement of ethical principles to provide guidance to physicians and other participants in medical research involving human subjects. Medical research involving human subjects includes research on identifiable human material or identifiable data. A key document.
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(2000)
Declaration of Helsinki - Ethical Principles for Medical Research Involving Human Subjects
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4
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0003663972
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The European Agency for the Evaluation of Medicinal Products: Guideline for Good Clinical Practice. World Wide Web URL: http://www.emea.eu.int/pdfs/ human/ich/013595en.pdf This Guideline was prepared in order to provide a unified standard for the European Union, Japan and the United States. It aims to facilitate the mutual acceptance of clinical data by the regulatory authorities of these countries. Its principles may also be applied to other clinical investigations that could impact the safety and well-being of human subjects. The guidance notes that clinical trials should be conducted in accordance with the ethical principles of the Declaration of Helsinki.
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Guideline for Good Clinical Practice
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5
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84872589325
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The National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research: The Belmont Report. Ethical Principles and Guidelines for the Protection of Human Subjects of Research. World Wide Web URL: http://ohrp.osophs.dhhs.gov/humansubjects/guidance/belmont.htm A seminal document that provides guidance aimed at US organisations. It summarises basic ethical principles that were identified by the National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research. The report includes guidelines that assist in resolving the ethical problems that surround the conduct of research with human subjects.
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The Belmont Report. Ethical Principles and Guidelines for the Protection of Human Subjects of Research
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8
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0002391321
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The human genome project and the future of diagnostics, treatment, and prevention
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A useful summary of the impact of the human genome project, much of which still applies today.
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van Ommen G.J.B., Bakker E., den Dunnen J.T. The human genome project and the future of diagnostics, treatment, and prevention. Lancet. 354:1999;510 A useful summary of the impact of the human genome project, much of which still applies today.
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(1999)
Lancet
, vol.354
, pp. 510
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Van Ommen, G.J.B.1
Bakker, E.2
Den Dunnen, J.T.3
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9
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0037146578
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Finding genes that underlie complex traits
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A very valuable and accessible account of current approaches to finding genes involved in complex traits. The authors describe linkage analysis and association, then progress to fine mapping, sequencing and functional analysis as applied to the identification of genes and their allelic variants in complex traits. They also review the relevance of circumstantial evidence and complicating factors in gene identification. They then apply the use of these approaches as criteria to assess the validity of the reported identification of several genes and their allelic variants, in plants, rodents, Drosophila, man and other organisms that have been identified from genome-wide linkage studies.
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Glazier A.M., Nadeau J.H., Aitman T.J. Finding genes that underlie complex traits. Science. 298:2002;2345-2349 A very valuable and accessible account of current approaches to finding genes involved in complex traits. The authors describe linkage analysis and association, then progress to fine mapping, sequencing and functional analysis as applied to the identification of genes and their allelic variants in complex traits. They also review the relevance of circumstantial evidence and complicating factors in gene identification. They then apply the use of these approaches as criteria to assess the validity of the reported identification of several genes and their allelic variants, in plants, rodents, Drosophila, man and other organisms that have been identified from genome-wide linkage studies.
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(2002)
Science
, vol.298
, pp. 2345-2349
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Glazier, A.M.1
Nadeau, J.H.2
Aitman, T.J.3
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10
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0344827206
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Mutation of MEF2A in an inherited disorder with features of coronary artery disease
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Wang L., Fan C., Topol S., Topol E.J., Wang Q. Mutation of MEF2A in an inherited disorder with features of coronary artery disease. Science. 302:2003;1578-1581
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(2003)
Science
, vol.302
, pp. 1578-1581
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Wang, L.1
Fan, C.2
Topol, S.3
Topol, E.J.4
Wang, Q.5
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11
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0034704197
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Susceptibility locus for Alzheimer's disease on Chromosome 10
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Myers A, Holmans P, Marshall H, Kwon J, Meyer D, Dzanan R, Shears S, Booth et al.: Susceptibility locus for Alzheimer's disease on Chromosome 10. Science 2000, 290:2304-2305.
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(2000)
Science
, vol.290
, pp. 2304-2305
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Myers, A.1
Holmans, P.2
Marshall, H.3
Kwon, J.4
Meyer, D.5
Dzanan, R.6
Shears, S.7
Booth8
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12
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0242268946
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The genetics of adult-onset neuropsychiatric disease: Complexities and conundra?
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An excellent review that discusses the complexities of identifying susceptibility loci for late-onset neuropsychiatric disease. The authors comment that several highly penetrant genes have been cloned for rare, early-onset forms of neurodegenerative diseases. These genes have provided important insights into the underlying pathologies. In the case of late-onset neurodegenerative diseases, schizophrenia, and bipolar disorder, susceptibility loci been identified and are described. However, these loci appear to have smaller effects, and may interact with each other and the environment leading to poorly defined disease phenotypes. The authors suggest that the solutions to these problems seem to lie in strategies to address phenotypic complexity and genetic heterogeneity and complexity, and perhaps in the development of new statistical methods to look simultaneously at gene-gene and gene-environment interactions.
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Kennedy J.L.A., Farrer Andreasen N.C., Mayeux R., St George-Hyslop P. The genetics of adult-onset neuropsychiatric disease: complexities and conundra? Science. 302:2003;822-826 An excellent review that discusses the complexities of identifying susceptibility loci for late-onset neuropsychiatric disease. The authors comment that several highly penetrant genes have been cloned for rare, early-onset forms of neurodegenerative diseases. These genes have provided important insights into the underlying pathologies. In the case of late-onset neurodegenerative diseases, schizophrenia, and bipolar disorder, susceptibility loci been identified and are described. However, these loci appear to have smaller effects, and may interact with each other and the environment leading to poorly defined disease phenotypes. The authors suggest that the solutions to these problems seem to lie in strategies to address phenotypic complexity and genetic heterogeneity and complexity, and perhaps in the development of new statistical methods to look simultaneously at gene-gene and gene-environment interactions.
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(2003)
Science
, vol.302
, pp. 822-826
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Kennedy, J.L.A.1
Farrer Andreasen, N.C.2
Mayeux, R.3
St George-Hyslop, P.4
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13
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0035754758
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Autism: The search for susceptibility genes
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Monaco A.P., Bailey A.J. Autism: the search for susceptibility genes. Lancet. 358(Suppl):2001;S3
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(2001)
Lancet
, vol.358
, Issue.SUPPL.
, pp. 3
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Monaco, A.P.1
Bailey, A.J.2
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14
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0035902067
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Cancer epidemiology in the last century and in the next decade
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This comprehensive review covers developments in cancer epidemiology since the 1980s. The author reviews current knowledge about environmental and lifestyle causes of cancer, including diet, bacteria, viruses and parasites. Current priorities in cancer prevention are described and consideration is given to the future of cancer epidemiology, including the identification of genetically susceptible subgroups.
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Peto J. Cancer epidemiology in the last century and in the next decade. Nature. 411:2001;390-395 This comprehensive review covers developments in cancer epidemiology since the 1980s. The author reviews current knowledge about environmental and lifestyle causes of cancer, including diet, bacteria, viruses and parasites. Current priorities in cancer prevention are described and consideration is given to the future of cancer epidemiology, including the identification of genetically susceptible subgroups.
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(2001)
Nature
, vol.411
, pp. 390-395
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Peto, J.1
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15
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0344338425
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Impact of genetic testing on causal models of heart disease and arthritis: An analogue study
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Senior V., Marteau T.M., Weinman J. Impact of genetic testing on causal models of heart disease and arthritis: an analogue study. Psychol Health. 14:1999;1077-1088
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(1999)
Psychol Health
, vol.14
, pp. 1077-1088
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Senior, V.1
Marteau, T.M.2
Weinman, J.3
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16
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0001643257
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Illness representations after the human genome project: The perceived role of genes in causing illness
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Edited by Petrie K, and Winman JA. Reading: Harwood Academic Publishers
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Marteau TM, Senior V: Illness representations after the human genome project: the perceived role of genes in causing illness. In Perceptions of Health and Illness: Current Research and Applications. Edited by Petrie K, and Winman JA. Reading: Harwood Academic Publishers; 1997:241-266.
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(1997)
Perceptions of Health and Illness: Current Research and Applications
, pp. 241-266
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Marteau, T.M.1
Senior, V.2
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17
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0032015961
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Annotation: Genetic research, family life and clinical practice
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Richards M. Annotation: genetic research, family life and clinical practice. J Child Psychol Psychiatry. 39:1998;291-305
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(1998)
J Child Psychol Psychiatry
, vol.39
, pp. 291-305
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Richards, M.1
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18
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85007758538
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ABC of breast cancer - Epidemiology, risk factors and genetics
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McPherson K., Steel C.M., Dixon J.M. ABC of breast cancer - epidemiology, risk factors and genetics. BMJ. 521:2001;624-628
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(2001)
BMJ
, vol.521
, pp. 624-628
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McPherson, K.1
Steel, C.M.2
Dixon, J.M.3
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19
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0032865666
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Genetic counselling for those with a family history of breast or ovarian cancer current practice and ethical issues
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One of the first accounts of how genetic counselling is undertaken in families with a history of breast or ovarian cancer with discussion about the more complex ethical issues.
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Richards M. Genetic counselling for those with a family history of breast or ovarian cancer current practice and ethical issues. Acta Oncol. 38:1999;559-565 One of the first accounts of how genetic counselling is undertaken in families with a history of breast or ovarian cancer with discussion about the more complex ethical issues.
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(1999)
Acta Oncol
, vol.38
, pp. 559-565
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Richards, M.1
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20
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0037397542
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Issues of consent and feedback in a genetic epidemiological study of women with breast cancer
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A useful study, which considers the views of patients participating in genetic research.
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Richards M.P.M., Ponder M., Pharoah P., Everest S., Mackay J. Issues of consent and feedback in a genetic epidemiological study of women with breast cancer. J Med Ethics. 29:2003;93-96 A useful study, which considers the views of patients participating in genetic research.
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(2003)
J Med Ethics
, vol.29
, pp. 93-96
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Richards, M.P.M.1
Ponder, M.2
Pharoah, P.3
Everest, S.4
Mackay, J.5
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22
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0345920900
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London: Nuffield Council on Bioethics
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Nuffield Council on Bioethics: Pharmacogenetics: Ethical Issues. London: Nuffield Council on Bioethics; 2003.
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(2003)
Pharmacogenetics: Ethical Issues
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23
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0034660560
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Pharmacogenetics and the practice of medicine
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A cogent case for the potential of pharmacogenetics. This review begins with a brief discussion of how genetics and genomics are used in the pharmaceutical industry to identify targets and discover new medicines. It then considers the impact that pharmacogenetics will have on the pharmaceutical industry and the provision of health care. Roses puts the case for the use of abbreviated SNP linkage disequilibrium profiles to predict patients' responses to medicines, arguing that they will not specifically 'test' the patient for the presence or absence of a disease gene-specific mutation, nor provide any other significant disease-specific predictive information about the patient or family members. He argues that medical guidelines for mendelian- or susceptibility-gene testing should not extend automatically to discussions of other types of genetically based profiles in pharmacogenetics.
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Roses A.D. Pharmacogenetics and the practice of medicine. Nature. 405:2000;857-865 A cogent case for the potential of pharmacogenetics. This review begins with a brief discussion of how genetics and genomics are used in the pharmaceutical industry to identify targets and discover new medicines. It then considers the impact that pharmacogenetics will have on the pharmaceutical industry and the provision of health care. Roses puts the case for the use of abbreviated SNP linkage disequilibrium profiles to predict patients' responses to medicines, arguing that they will not specifically 'test' the patient for the presence or absence of a disease gene-specific mutation, nor provide any other significant disease-specific predictive information about the patient or family members. He argues that medical guidelines for mendelian- or susceptibility-gene testing should not extend automatically to discussions of other types of genetically based profiles in pharmacogenetics.
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(2000)
Nature
, vol.405
, pp. 857-865
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Roses, A.D.1
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24
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0037852107
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Pharmacogenetic interventions, orphan drugs, and distributive justice: The role of cost-benefit analysis
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A well thought out and timely analysis that considers the use of the orphan drug concept in the context of pharmacogenetics.
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Rai A.K. Pharmacogenetic interventions, orphan drugs, and distributive justice: the role of cost-benefit analysis. Soc Philos Policy. 19:2002;246-270 A well thought out and timely analysis that considers the use of the orphan drug concept in the context of pharmacogenetics.
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(2002)
Soc Philos Policy
, vol.19
, pp. 246-270
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Rai, A.K.1
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25
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0035188058
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Population genetic structure of variable drug response
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Wilson J.F., Weale M.E., Smith A.C., Gratrix F., Fletcher B., Thomas M.G., Bradman N., Goldstein D.B. Population genetic structure of variable drug response. Nat Genet. 29:2001;265-269
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(2001)
Nat Genet
, vol.29
, pp. 265-269
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Wilson, J.F.1
Weale, M.E.2
Smith, A.C.3
Gratrix, F.4
Fletcher, B.5
Thomas, M.G.6
Bradman, N.7
Goldstein, D.B.8
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26
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0042845884
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FDA races in wrong direction
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Haga S.B., Venter J.C. FDA races in wrong direction. Science. 301:2003;446
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(2003)
Science
, vol.301
, pp. 446
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Haga, S.B.1
Venter, J.C.2
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27
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0036381531
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Categorization of humans in biomedical research: Genes, race and disease
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Risch N., Burchard E., Ziv E., Tang H. Categorization of humans in biomedical research: genes, race and disease. Genome Biol. 3:2002;1-2007
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(2002)
Genome Biol
, vol.3
, pp. 1-2007
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Risch, N.1
Burchard, E.2
Ziv, E.3
Tang, H.4
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29
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0038755206
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Genetic technologies, health care policy and the patent bargain
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A useful presentation of the issues relating to patenting in healthcare, particularly for gene-based diagnostics.
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Caulfield T.A., Knoppers B.M., Gold E.R., Sheremeta L.E., Bridge P.J. Genetic technologies, health care policy and the patent bargain. Clin Genet. 63:2003;15-18 A useful presentation of the issues relating to patenting in healthcare, particularly for gene-based diagnostics.
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(2003)
Clin Genet
, vol.63
, pp. 15-18
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Caulfield, T.A.1
Knoppers, B.M.2
Gold, E.R.3
Sheremeta, L.E.4
Bridge, P.J.5
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30
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2542463580
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Organisation for Economic Co-operation and Development (OECD): Short Summary Report of the Workshop on Genetic Inventions, Intellectual Property Rights and Licensing Practices. World Wide Web URL: http://www.oecd.org/ dataoecd/42/21/2491084.pdf This report is based on a discussion that took place at a large international Workshop convened by the Organisation for Economic Co-operation and Development in 2002. The Report reviews empirical evidence for the impact of current licensing practices on access to patenting and genetic technology by research companies and by healthcare systems. Rather than unduly limiting access, the Workshop concluded that patents and licences for genetic inventions appear to stimulate research, knowledge flows and market entry of new technology across different countries.
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Short Summary Report of the Workshop on Genetic Inventions, Intellectual Property Rights and Licensing Practices
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31
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0037033981
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Diagnostic testing fails the test
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An excellent evidence-based contribution to the debate on the patenting of gene-based diagnostic tests. The authors describe examples of where commercialisation is threatening the public interest.
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Merz J.F., Kriss A.G., Leonard D.G.B., Cho M.K. Diagnostic testing fails the test. Nature. 415:2002;577-579 An excellent evidence-based contribution to the debate on the patenting of gene-based diagnostic tests. The authors describe examples of where commercialisation is threatening the public interest.
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(2002)
Nature
, vol.415
, pp. 577-579
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Merz, J.F.1
Kriss, A.G.2
Leonard, D.G.B.3
Cho, M.K.4
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32
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2542417607
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A rational view of genetic discrimination
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The case against the need for legislation to prevent genetic discrimination.
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Nowlan W. A rational view of genetic discrimination. Science. 297:2002;196-197 The case against the need for legislation to prevent genetic discrimination.
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(2002)
Science
, vol.297
, pp. 196-197
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Nowlan, W.1
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33
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2542471073
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Before it's too late - Addressing the fear of genetic discrimination
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A short article that clearly sets out the case for legislation to prevent unfair genetic discrimination.
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Rothenburg K.H., Terry S.F. Before it's too late - addressing the fear of genetic discrimination. Science. 297:2002;197-198 A short article that clearly sets out the case for legislation to prevent unfair genetic discrimination.
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(2002)
Science
, vol.297
, pp. 197-198
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Rothenburg, K.H.1
Terry, S.F.2
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34
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0031003216
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Genetic information and the workplace: Legislative approaches and policy challenges
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Rothenberg K, Fuller B, Rothstein M, Duster T, Ellis Kahn MJ, Cunningham R, Fine B, Hudson K et al.: Genetic information and the workplace: legislative approaches and policy challenges. Science 1997, 275:1755-1757.
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(1997)
Science
, vol.275
, pp. 1755-1757
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Rothenberg, K.1
Fuller, B.2
Rothstein, M.3
Duster, T.4
Ellis Kahn, M.J.5
Cunningham, R.6
Fine, B.7
Hudson, K.8
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35
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0038656550
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Tying genetics to the risk of environmental diseases
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Kaiser J. Tying genetics to the risk of environmental diseases. Science. 300:2002;563
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(2002)
Science
, vol.300
, pp. 563
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Kaiser, J.1
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36
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0242332217
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Genetic discrimination - Time to act
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A strongly argued case that urges the US Senate to pass the Genetic Information and Non-discrimination Act to prohibit genetic discrimination in the workplace.
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Collins F., Watson J. Genetic discrimination - time to act. Science. 302:2002;745 A strongly argued case that urges the US Senate to pass the Genetic Information and Non-discrimination Act to prohibit genetic discrimination in the workplace.
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(2002)
Science
, vol.302
, pp. 745
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Collins, F.1
Watson, J.2
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37
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2542472857
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UK Department of Health White Paper: Our Inheritance, Our Future - Realising the Potential of Genetics in the National Health Service. World Wide Web URL: http://www.dh.gov.uk/PolicyAndGuidance/HealthAndSocialCareTopics/ Genetics/GeneticsGeneralInformation/GeneticsGeneralArticle/fs/en?CONTENT_ID= 4016430&chk=RnGBgL This White Paper sets out a plan of action and new investments (£50M between 2003-2006) in genetics for the National Health System (NHS) in England, as well as covering wider policy issues relating to genetics in the UK. It outlines the UK Government's strategy for effective delivery of genetic services for the NHS. It describes a range of new initiatives, some of which have already been implemented, to support specialised services, and encourage and assist clinicians and managers throughout the NHS to incorporate genetic advances into everyday clinical practice.
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Our Inheritance, Our Future - Realising the Potential of Genetics in the National Health Service
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38
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2542499253
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French National Human Rights Advisory Commission and National Ethics Advisory Commission (French bioethics bill). World Wide Web URL: http://www.senat.fr/dossierleg/pjl01-189.html
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40
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2542503006
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The United Kingdom Parliament - House of Commons: Human Tissue Bill. World Wide Web: http://www.parliament.the-stationery-office.co.uk/pa/cm200304/ cmbills/009/2004009.htm
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Human Tissue Bill
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