American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics
Genome-wide association aims to comprehensively survey genetic variation for the purposes of disease and trait mapping. We provide a brief history of the development of genetic technology necessary to realize genome-wide association. From there we identify and review the publicly available resources for conducting such work including the molecular technologies, genomic databases, and analytic tools. Following on from the analytic tools, we highlight common analytic considerations, ranging from study design, quality control, and data cleaning to association analysis and replication.
Several large-scale searches for genes that influence complex human traits, such as intelligence and personality, in the normal range of variation have failed to identify even one gene that makes a significant difference. All previously published claims for genetic influences of this kind now appear to have been false positives. For more serious psychiatric and medical disorders such as schizophrenia and autism, several genes have been found where a rare mutation contributes to abnormal behavior, but in many instances they are de novo mutations not obtained from a parent.
Genetic mechanisms are relevant for both body weight regulation and eating disorders (e.g. anorexia nervosa, AN). Although genome-wide association studies (GWAS) have so far identified about 100 chromosomal regions that influence body weight, only a small part of the variance could be explained by molecular genetic factors. For AN GWAS up to now did not reveal genome-wide significant loci. There are first hints for epigenetic mechanisms involved in the described phenotypes.
Religious discussion of human organs and tissues has concentrated largely on donation for therapeutic purposes. The retrieval and use of human tissue samples in diagnostic, research, and education contexts have, by contrast, received very little direct theological attention. Initially undertaken at the behest of the National Bioethics Advisory Commission, this essay seeks to explore the theological and religious questions embedded in nontherapeutic use of human tissue.
Ethics & Medicine: A Christian Perspective on Issues in Bioethics
Catholic movements within the centre of Roman Catholic doctrine recently have discussed Trinitarian theology as applied to sciences, arts, economics, health and other social areas. We explore the possibilities Trinitarian theology offers to bioethical debate, concentrating particularly on genetic screening and testing. It is important therefore to analyse the philosophical implications of this approach onto the bioethical world, where much disagreement occurs on fundamental issues.
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.
BACKGROUND: The aim of this study was to identify perceptions of the general public regarding research involving human tissues; to assess the public's willingness to donate samples to biobanks; and to identify factors associated with the willingness to donate samples. METHODS: Cross-sectional survey. Postal questionnaires to a random sample of the general public in Sweden, 18-80 years of age (n = 6000) in October 2002 (response rate 49.4%; n = 2928). RESULTS: A majority of the respondents had a positive attitude towards genetic research.
Studies in History and Philosophy of Biological and Biomedical Sciences
Concern about the ethics of clinical drug trials research on patients and healthy volunteers has been the subject of significant ethical analysis and policy development--protocols are reviewed by Research Ethics Committees and subjects are protected by informed consent procedures. More recently attention has begun to be focused on DNA banking for clinical and pharmacogenetics research.
In the debate on biobank regulation, arguments often draw upon findings in surveys on public attitudes. However, surveys on willingness to participate in research may not always predict actual participation rates. We compared hypothetical willingness as estimated in 11 surveys conducted in Sweden, Iceland, United Kingdom, Ireland, United States and Singapore to factual participation rates in 12 biobank studies. Studies were matched by country and approximate time frame.
In a 2008 pilot study we used DNA microarrays to explore the historical ideo-plastic faculty of therapeutic hypnosis. We documented how to measure changes in activity or experience-dependent gene expression over relatively brief time periods (1 hour and 24 hours) following a single intervention of therapeutic hypnosis (about 1 hour). In the present paper we utilize bioinformatic software to explore the possible meaning and significance of this ideo-plastic faculty of therapeutic hypnosis.