Genetic Research: Research into the cause, transmission, amelioration, elimination, or enhancement of inherited disorders and traits.Biological Specimen Banks: Facilities that collect, store, and distribute tissues, e.g., cell lines, microorganisms, blood, sperm, milk, breast tissue, for use by others. Other uses may include transplantation and comparison of diseased tissues in the identification of cancer.Minors: A person who has not attained the age at which full civil rights are accorded.Research Subjects: Persons who are enrolled in research studies or who are otherwise the subjects of research.Ethics, Research: The moral obligations governing the conduct of research. Used for discussions of research ethics as a general topic.Genetics, Medical: A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.Research Personnel: Those individuals engaged in research.Ethics Committees, Research: Hospital or other institutional committees established to protect the welfare of research subjects. Federal regulations (the "Common Rule" (45 CFR 46)) mandate the use of these committees to monitor federally-funded biomedical and behavioral research involving human subjects.Genetics: The branch of science concerned with the means and consequences of transmission and generation of the components of biological inheritance. (Stedman, 26th ed)Informed Consent: Voluntary authorization, by a patient or research subject, with full comprehension of the risks involved, for diagnostic or investigative procedures, and for medical and surgical treatment.Duty to Recontact: The ethical and/or legal obligation of a health provider or researcher to communicate with a former patient or research subject about advances in research relevant to a treatment or to a genetic or other diagnostic test provided earlier, or about proposed new uses of blood or tissue samples taken in the past for another purpose.Research: Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws. (Webster, 3d ed)Disclosure: Revealing of information, by oral or written communication.Public Opinion: The attitude of a significant portion of a population toward any given proposition, based upon a measurable amount of factual evidence, and involving some degree of reflection, analysis, and reasoning.Parental Consent: Informed consent given by a parent on behalf of a minor or otherwise incompetent child.Confidentiality: The privacy of information and its protection against unauthorized disclosure.Privacy: The state of being free from intrusion or disturbance in one's private life or affairs. (Random House Unabridged Dictionary, 2d ed, 1993)Attitude: An enduring, learned predisposition to behave in a consistent way toward a given class of objects, or a persistent mental and/or neural state of readiness to react to a certain class of objects, not as they are but as they are conceived to be.Social Discrimination: Group behavior toward others by virtue of their group membership.Psychiatry: The medical science that deals with the origin, diagnosis, prevention, and treatment of mental disorders.Tissue Banks: Centers for acquiring, characterizing, and storing organs or tissue for future use.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Truth Disclosure: Truthful revelation of information, specifically when the information disclosed is likely to be psychologically painful ("bad news") to the recipient (e.g., revelation to a patient or a patient's family of the patient's DIAGNOSIS or PROGNOSIS) or embarrassing to the teller (e.g., revelation of medical errors).Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Researcher-Subject Relations: Interaction between research personnel and research subjects.Molecular Biology: A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.United StatesGenome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.Research Support as Topic: Financial support of research activities.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.National Institutes of Health (U.S.): An operating division of the US Department of Health and Human Services. It is concerned with the overall planning, promoting, and administering of programs pertaining to health and medical research. Until 1995, it was an agency of the United States PUBLIC HEALTH SERVICE.Consumer Participation: Community or individual involvement in the decision-making process.Patient Selection: Criteria and standards used for the determination of the appropriateness of the inclusion of patients with specific conditions in proposed treatment plans and the criteria used for the inclusion of subjects in various clinical trials and other research protocols.Research Design: A plan for collecting and utilizing data so that desired information can be obtained with sufficient precision or so that an hypothesis can be tested properly.Genetic Variation: Genotypic differences observed among individuals in a population.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Nursing Research: Research carried out by nurses, generally in clinical settings, in the areas of clinical practice, evaluation, nursing education, nursing administration, and methodology.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Genetic Techniques: Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.Genetics, Population: The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Questionnaires: Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.Attitude to Health: Public attitudes toward health, disease, and the medical care system.Health Services Research: The integration of epidemiologic, sociological, economic, and other analytic sciences in the study of health services. Health services research is usually concerned with relationships between need, demand, supply, use, and outcome of health services. The aim of the research is evaluation, particularly in terms of structure, process, output, and outcome. (From Last, Dictionary of Epidemiology, 2d ed)Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Translational Medical Research: The application of discoveries generated by laboratory research and preclinical studies to the development of clinical trials and studies in humans. A second area of translational research concerns enhancing the adoption of best practices.Interviews as Topic: Conversations with an individual or individuals held in order to obtain information about their background and other personal biographical data, their attitudes and opinions, etc. It includes school admission or job interviews.Family: A social group consisting of parents or parent substitutes and children.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
Return of results: Return of results is a concept in research ethics which describes the extent of the duty of a researcher to reveal and explain the results of research to a research participant.UK Biobank: UK Biobank is a large long-term biobank study in the United Kingdom (UK) which is investigating the respective contributions of genetic predisposition and environmental exposure (including nutrition, lifestyle, medications etc.) to the development of disease.Research participant: A research participant, also called a human subject or an experiment, trial, or study participant or subject, is a person who participates in human subject research by being the target of observation by researchers.David Rimoin: David Lawrence Rimoin (November 9, 1936 – May 27, 2012) was a Canadian American geneticist. He was especially noted for his research into the genetics of skeletal dysplasia (dwarfism), inheritable diseases such as Tay–Sachs disease, and diabetes.Walter Reed Army Institute of ResearchAndrew Dickson WhitePublic opinion on nuclear issues: Public opinion on nuclear issues is the aggregate of attitudes or beliefs held by the adult population concerning nuclear power, nuclear weapons and uranium mining.Legal status of tattooing in the United States: In the United States, there is no federal law regulating the practice of tattooing. However, all 50 states and the District of Columbia have statutory laws requiring a person receiving a tattoo be 18 years of age or older.Medix UK Limited: Medix UK Limited is a UK-based market research consultancy providing online research in healthcare.Privacy Center: Privacy Center is a form of ransomware that hijacks a Microsoft Windows operating system and insists that the upgrades their protection for a price. It is a green system tray icon that often takes over the screen and blocks the desktop, including the start icon.Hukou systemCross-cultural psychiatry: Cross-cultural psychiatry, transcultural psychiatry, or cultural psychiatry is a branch of psychiatry concerned with the cultural context of mental disorders and the challenges of addressing ethnic diversity in psychiatric services. It emerged as a coherent field from several strands of work, including surveys of the prevalence and form of disorders in different cultures or countries; the study of migrant populations and ethnic diversity within countries; and analysis of psychiatry itself as a cultural product.Certified Tissue Bank Specialist: A Certified Tissue Bank Specialist (CTBS) designation is a professional certification mark for Tissue Banking Professionals conferred by the American Association of Tissue Banks (AATB). AATB oversees musculoskeletal, cardiovascular, skin and reproductive tissue banks in the United States.Dda (DNA-dependent ATPase): Dda (short for DNA-dependent ATPase; also known as Dda helicase and Dda DNA helicase) is the 439-amino acid 49,897-atomic mass unit protein coded by the Dda gene of the bacteriophage T4 phage, a virus that infects enterobacteria.List of Parliamentary constituencies in Kent: The ceremonial county of Kent,Population stratification: Population stratification is the presence of a systematic difference in allele frequencies between subpopulations in a population possibly due to different ancestry, especially in the context of association studies. Population stratification is also referred to as population structure, in this context.Ontario Genomics Institute: The Ontario Genomics Institute (OGI) is a not-for-profit organization that manages cutting-edge genomics research projects and platforms.The Ontario Genomics Institute OGI also helps scientists find paths to the marketplace for their discoveries and the products to which they lead, and it works through diverse outreach and educational activities to raise awareness and facilitate informed public dialogue about genomics and its social impacts.Genetic variation: right|thumbPhenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Genetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Panmixia: Panmixia (or panmixis) means random mating.King C and Stanfield W.Closed-ended question: A closed-ended question is a question format that limits respondents with a list of answer choices from which they must choose to answer the question.Dillman D.DNA sequencer: A DNA sequencer is a scientific instrument used to automate the DNA sequencing process. Given a sample of DNA, a DNA sequencer is used to determine the order of the four bases: G (guanine), C (cytosine), A (adenine) and T (thymine).Science Translational Medicine: Science Translational Medicine is an interdisciplinary medical journal established in October 2009 by the American Association for the Advancement of Science.Psychiatric interview: The psychiatric interview refers to the set of tools that a mental health worker (most times a psychiatrist or a psychologist but at times social workers or nurses) uses to complete a psychiatric assessment.Microsatellite: A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 2–5 base pairs) are repeated, typically 5-50 times. Microsatellites occur at thousands of locations in the human genome and they are notable for their high mutation rate and high diversity in the population.
(1/247) Indigenous peoples and the morality of the Human Genome Diversity Project.
In addition to the aim of mapping and sequencing one human's genome, the Human Genome Project also intends to characterise the genetic diversity of the world's peoples. The Human Genome Diversity Project raises political, economic and ethical issues. These intersect clearly when the genomes under study are those of indigenous peoples who are already subject to serious economic, legal and/or social disadvantage and discrimination. The fact that some individuals associated with the project have made dismissive comments about indigenous peoples has confused rather than illuminated the deeper issues involved, as well as causing much antagonism among indigenous peoples. There are more serious ethical issues raised by the project for all geneticists, including those who are sympathetic to the problems of indigenous peoples. With particular attention to the history and attitudes of Australian indigenous peoples, we argue that the Human Genome Diversity Project can only proceed if those who further its objectives simultaneously: respect the cultural beliefs of indigenous peoples; publicly support the efforts of indigenous peoples to achieve respect and equality; express respect by a rigorous understanding of the meaning of equitable negotiation of consent, and ensure that both immediate and long term economic benefits from the research flow back to the groups taking part. (+info)
(2/247) Genetic medicine: an experiment in community-expert interaction.
This project tested a two-way model of communication between lay groups and experts about genetic medicine in Perth, Western Australia. Focus group discussion with community group participants was followed by a communication workshop between community group participants and experts. Four groups of concerns or themes emerged from discussion: clinical considerations; legislative concerns; research priorities, and ethical and wider considerations. Community group concerns are not always met by the actions of "experts". This is, in part, because of the differing life-worlds of each group. However, the communication workshop showed the potential of two-way communication for both lay and expert members in understanding the others' viewpoint. Further, the approach developed here offers one possible way for community groups to participate in a substantial way in policy formulation processes. (+info)
(3/247) Public deliberation and private choice in genetics and reproduction.
The development of human genetics raises a wide range of important ethical questions for us all. The interpersonal dimension of genetic information in particular means that genetics also poses important challenges to the idea of patient-centredness and autonomy in medicine. How ought practical ethical decisions about the new genetics be made given that we appear, moreover, no longer to be able to appeal to unquestioned traditions and widely shared communitarian values? This paper argues that any coherent ethical approach to these questions must be able both to uphold the moral status of the individual and at the same time recognise the communitarian, interpersonal dimensions both of the world in which we live and of personal autonomy itself. The paper then goes on to propose an approach to the resolution of the ethical questions raised by the use of the new genetics in reproductive choice through the development of a coherent and principled process of public reason and justification oriented towards the support and development of personal autonomy. (+info)
(4/247) The case for a new system for oversight of research on human subjects.
The increasing emphasis on evidence-based clinical practice has thrown into sharp focus multiple deficiencies in current systems of ethical review. This paper argues that a complete overhaul of systems for ethical oversight of studies involving human subjects is now required as developments in medical, epidemiological and genetic research have outstripped existing structures for ethical supervision. It shows that many problems are now evident and concludes that sequential and piecemeal amendments to present arrangements are inadequate to address these. At their core present systems of ethical review still rely on the integrity and judgment of individual investigators. One possible alternative is to train and license research investigators, make explicit their responsibilities and have ethics committees devote much more of their time to monitoring research activity in order to detect those infringing the rules. (+info)
(5/247) A seat at the table: membership in federal advisory committees evaluating public policy in genetics.
OBJECTIVES: This study examined who participates in federal government advisory committees regarding public policy in human and medical genetics, what parties they represent, and to what extent the general public is meaningfully represented. METHODS: Analysis focused on 7 federal government documents published from January 1990 to February 1995. Advisors were categorized into 4 groups based on the professional affiliations that were listed in the publications. After a search of several references and data-bases, the study examined whether these individuals also had other affiliations not listed in the government publications. RESULTS: Individuals whose principal affiliations were with academia (n = 32; 44%) or industry (n = 19; 26%) represented nearly three fourths of the sample, followed by government employees (n = 13; 18%) and consumer advocates (n = 8; 11%). At least 16% of the advisors serving on the federal committees, mostly members of academia, had a dual affiliation. CONCLUSIONS: These data indicate that the public has modest representation on key federal advisory committees making policy recommendations regarding human genetics technology and clinical practice and that there is ample room for additional public participation. (+info)
(6/247) Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK MREC/LREC system and relevance to uncommon genetic disorders.
OBJECTIVES: To assess the process involved in obtaining ethical approval for a single-centre study involving geographically dispersed subjects with an uncommon genetic disorder. DESIGN: Observational data of the application process to 53 local research ethics committees (LRECs) throughout Wales, England and Scotland. The Multicentre Research Ethics Committee (MREC) for Wales had already granted approval. RESULTS: Application to the 53 LRECs required 24,552 sheets of paper and took two months of the researcher's time. The median time taken for approval was 39 days with only seven (13%) of committees responding within the recommended 21 days. In at least nineteen cases (36%) a subcommittee considered the application. Thirty-three committees (62%) accepted the proposal without amendments but, of the remainder, four (8%) requested changes outside of the remit of LRECs. DISCUSSION: Difficulties still exist with the system for obtaining ethical approval for studies involving a single centre but with patients at multiple sites, as is often required for genetic observational research. As such studies differ from true multicentre studies, it may be advantageous to develop a separate and specific process of application to ensure that resources are not unnecessarily expended in the quest for ethical approval. (+info)
(7/247) Attitudes of the Japanese public and doctors towards use of archived information and samples without informed consent: preliminary findings based on focus group interviews.
BACKGROUND: The purpose of this study is to explore laypersons' attitudes toward the use of archived (existing) materials such as medical records and biological samples and to compare them with the attitudes of physicians who are involved in medical research. METHODS: Three focus group interviews were conducted, in which seven Japanese male members of the general public, seven female members of the general public and seven physicians participated. RESULTS: It was revealed that the lay public expressed diverse attitudes towards the use of archived information and samples without informed consent. Protecting a subject's privacy, maintaining confidentiality, and communicating the outcomes of studies to research subjects were regarded as essential preconditions if researchers were to have access to archived information and samples used for research without the specific informed consent of the subjects who provided the material. Although participating physicians thought that some kind of prior permission from subjects was desirable, they pointed out the difficulties involved in obtaining individual informed consent in each case. CONCLUSIONS: The present preliminary study indicates that the lay public and medical professionals may have different attitudes towards the use of archived information and samples without specific informed consent. This hypothesis, however, is derived from our focus groups interviews, and requires validation through research using a larger sample. (+info)
(8/247) Protecting subjects' interests in genetics research.
Biomedical researchers often assume that sponsors, subjects, families, and disease-associated advocacy groups contribute to research solely because of altruism. This view fails to capture the diverse interests of many participants in the emerging research enterprise. In the past two decades, patient groups have become increasingly active in the promotion and facilitation of genetics research. Simultaneously, a significant shift of academic biomedical science toward commercialization has occurred, spurred by U.S. federal policy changes. The concurrent rise in both the roles that subjects play and the commercial interests they have presents numerous ethical challenges. We examine the interests of different research participants, finding that these interests are not addressed by current policies and practices. We conclude that all participants should be given a voice in decisions affecting ownership, access to, and use of commercialized products and services, and that researchers and institutions should negotiate issues relating to control of research results and the sharing of benefits before the research is performed. (+info)