BioPortal is a Web portal that provides access to a library of biomedical ontologies and terminologies developed in OWL, RDF(S), OBO format, Protégé frames, and Rich Release Format. BioPortal functionality, driven by a service-oriented architecture, includes the ability to browse, search and visualize ontologies (Figure 1). The Web interface also facilitates community-based participation in the evaluation and evolution of ontology content.

(1884). ANNUAL ADDRESS READ BEFORE THE “SOUTH AFRICAN PHILOSOPHICAL SOCIETY,”. Transactions of the South African Philosophical Society: Vol. 4, No. 1, pp. xxx-liii.

Purpose: A study was made of attitudes of clinical geneticists regarding the age at which minors should be allowed to undergo a carrier test and the reasons they provide to explain their answer. Methods: European clinical institutions where genetic counselling is offered to patients were contacted. 177 (63%) of the 287 eligible respondents answered a questionnaire. Results: Clinical geneticists were significantly more in favour of providing a carrier test to a younger person if the request was made together with the (...) parents than if the adolescent requested the test personally. Although a large fraction of respondents (16%–30%) were “neither unwilling nor willing” to provide a carrier test to a 16-year-old adolescent who requested the test personally, for most disorders slightly more clinical geneticists were “very willing” or “willing”. Conclusion: Age is not the only decisive element when considering the participation of adolescents in decisions affecting their health. The clinical geneticists referred to cognitive, emotional and sexual maturity and the support of parents as crucial elements in their comments regarding when to tell children about their genetic risk or to allow adolescents to request a carrier test. (shrink)

Background: The factors influencing parents’ willingness to enroll their children in biobanks are poorly understood. This study sought to assess parents’ willingness to enroll their children, and their perceived benefits, concerns, and information needs under different consent and data-sharing scenarios, and to identify factors associated with willingness. Methods: This large, experimental survey of patients at the 11 eMERGE Network sites used a disproportionate stratified sampling scheme to enrich the sample with historically underrepresented groups. Participants were randomized to receive one of (...) three consent and data-sharing scenarios. Results: In total, 90,000 surveys were mailed and 13,000 individuals responded (15.8% response rate). 5737 respondents were parents of minor children. Overall, 55% (95% confidence interval 50–59%) of parents were willing to enroll their youngest minor child in a hypothetical biobank; willingness did not differ between consent and data-sharing scenarios. Lower educational attainment, higher religiosity, lower trust, worries about privacy, and attitudes about benefits, concerns, and information needs were independently associated with less willingness to allow their child to participate. Of parents who were willing to participate themselves, 25% were not willing to allow their child to participate. Being willing to participate but not willing to allow one’s child to participate was independently associated with multiple factors, including race, lower educational attainment, lower annual household income, public health care insurance, and higher religiosity. Conclusions: Fifty-five percent of parents were willing to allow their youngest minor child to participate in a hypothetical biobank. Building trust, protecting privacy, and addressing attitudes may increase enrollment and diversity in pediatric biobanks. (shrink)

Up till now, China has not enacted any legal mechanisms governing certification or supervision for ethics committees. This article analyses deficiencies in the protection of subjects in clinical drug trials under China’s current laws and regulations; it emphasizes that investigators, as practitioners who have direct contact with subjects, play significant roles in protecting and safeguarding subjects’ rights and interests. The paper compares the status quo in China in this area to that of other countries and discusses ways China might enhance (...) the protection of rights and interests of trial subjects, such as enhancing the ethical awareness of investigators through training, improving laws and regulations, and strengthening the communication between investigators and ethics committees. (shrink)

Objectives: To study the consent process experienced by participants who are enrolled in a molecular genetic research study that aims to find new genetic mutations responsible for an apparently inherited disorder.Design: Semi-structured interviews and analysis/description of main themes.Participants: 78 members of 52 families who had been recruited to a molecular genetic study.Results: People were well informed about the goals, risks and benefits of the genetic research study but could not remember the consent process. They had mostly been recruited to take (...) part by trusted clinicians or their relatives but had little memory of, or concern about signing consent forms. Families appeared to regard the research as a continuation of their, or their relatives’, clinical care.Conclusions: Ethical review should be more flexible in its attitude to consent forms and written information sheets for some sorts of research. For rare genetic disease studies where research has been discussed fully within the clinical setting then the consent obtained at that time could suffice rather than needing extra consent at a later stage. However, clinician-researchers will need to ensure that their duty of care extends for the duration of the research and beyond. (shrink)

Objective To evaluate the modes of death and treatment offered in the last 24 h of life to patients dying in 10 Brazilian intensive care units (ICUs) over a period of 2 years. Design and setting Cross-sectional, multicentre, retrospective study based on medical chart review. The medical records of all patients that died in seven paediatric and three adult ICUs belonging to university and tertiary hospitals over a period of 2 years were included. Deaths in the first 24 h of (...) admission to the ICU and brain death were excluded. Intervention Two intensive care fellows of each ICU were trained in fulfilling a standard protocol (κ=0.9) to record demographic data and all medical management provided in the last 48 h of life. The Student t test, Mann–Whitney U test, χ2 test and RR were used for data comparison. Measurements and main results 1053 medical charts were included (59.4% adult patients). Life support limitation was more frequent in the adult group (86% vs 43.5%; p<0.001). A ‘do not resuscitate’ order was the most common life support limitation in both groups (75% and 66%), whereas withholding/withdrawing were more frequent in the paediatric group (33.9% vs 24.9%; p=0.02). The life support limitation was rarely reported in the medical chart in both groups (52.6% and 33.7%) with scarce family involvement in the decision making process (23.0% vs 8.7%; p<0.001). Conclusion Life support limitation decision making in Brazilian ICUs is predominantly centred on the medical perspective with scarce participation of the family, and consequently several non-coherent medical interventions are observed in patients with life support limitation. (shrink)