OBJECTIVE: This scoping review aims to identify, catalogue, and characterize previously reported tools, techniques, methods, and processes that have been recommended or used by evidence synthesizers to detect fraudulent or erroneous data and mitigate its impact. INTRODUCTION: Decision-making for policy and practice should always be underpinned by the best available evidence-typically peer-reviewed scientific literature. Evidence synthesis literature should be collated and organized using the appropriate evidence synthesis methodology, best exemplified by the role systematic reviews play in evidence-based health care. However, with the rise of "predatory journals," fraudulent or erroneous data may be invading this literature, which may negatively affect evidence syntheses that use this data. This, in turn, may compromise decision-making processes. INCLUSION CRITERIA: This review will include peer-reviewed articles, commentaries, books, and editorials that describe at least 1 tool, technique, method, or process with the explicit purpose of identifying or mitigating the impact of fraudulent or erroneous data for any evidence synthesis, in any topic area. Manuals, handbooks, and guidance from major organizations, universities, and libraries will also be considered. METHODS: This review will be conducted using the JBI methodology for scoping reviews and reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). Databases and relevant organizational websites will be searched for eligible studies. Title and abstract, and, subsequently, full-text screening will be conducted in duplicate. Data from identified full texts will be extracted using a pre-determined checklist, while the findings will be summarized descriptively and presented in tables. REVIEW REGISTRATION: Open Science Framework https://osf.io/u8yrn.
- MeSH
- Humans MeSH
- Fraud prevention & control MeSH
- Systematic Reviews as Topic MeSH
- Scientific Misconduct * MeSH
- Research Design standards MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
Cílem sdílení genomických dat je umožnit bezpečný přístup k těmto údajům především za účelem výzkumu, personalizované zdravotní péče a tvorby zdravotních politik. Sdílení dat má potenciál urychlit výzkum a přinést významný pokrok v chápání zdraví a nemocí, avšak naráží na právní a etické problémy spojené s ochranou soukromí a důvěrnosti informací. Kromě mnohdy neintuitivní evropské legislativy vedoucí k různým právním interpretacím, existují v jednotlivých zemích Evropské unie další národní pravidla, která mohou nakládání s genomickými daty dále specifikovat. Tato různorodost komplikuje mezinárodní spolupráci a sdílení dat, a to nejenom v genetice, ale i v jiných oblastech biomedicínského výzkumu. Tato práce analyzuje základní právní rámec a jeho aplikaci umožňující sdílení genomických dat a objasňuje pojmy dalšího zpracování, sekundárního využití a účelu zpracování dat. Dále zdůrazňuje význam souhlasu subjektů údajů a specifických výjimek z obecného zákazu zpracování citlivých dat. Pro efektivní sdílení genomických dat je nezbytné dodržovat evropské a národní právní předpisy, včetně jasného stanovení účelu a právního základu zpracování. Mezinárodní spolupráce vyžaduje harmonizaci právních předpisů a důkladnou správu dat. Tento článek analyzuje základní dynamiku a zákonnost sdílení dat v oblasti genomického výzkumu.
The aim of genomic data sharing is to enable secure access to this data, primarily for research, personalized healthcare and health policy-making. Data sharing has the potential to accelerate research and bring about significant advances in the understanding of health and disease, but it faces legal and ethical issues related to the protection of privacy and confidentiality of information. In addition to the often counterintuitive European legislation leading to different legal interpretations, there are other national rules in individual European Union countries that can further specify the handling of genomic data. This diversity complicates international cooperation and data sharing, not only in genetics but also in other areas of biomedical research. This thesis analyzes the basic legal framework and its application enabling the sharing of genomic data and clarifies the concepts of further processing, secondary use and purpose of data processing. Furthermore, it stresses the importance of data subjects' consent and specific exceptions to the general ban on processing sensitive data. For effective sharing of genomic data, it is essential to comply with European and national legislation, including a clear definition of the purpose and legal basis of processing. International cooperation requires regulatory harmonization and robust data management. This paper analyzes the fundamental dynamics and legality of data sharing in the field of genomic research.
BACKGROUND: Use of artificial intelligence (AI) in rare diseases has grown rapidly in recent years. In this review we have outlined the most common machine-learning and deep-learning methods currently being used to classify and analyse large amounts of data, such as standardized images or specific text in electronic health records. To illustrate how these methods have been adapted or developed for use with rare diseases, we have focused on Fabry disease, an X-linked genetic disorder caused by lysosomal α-galactosidase. A deficiency that can result in multiple organ damage. METHODS: We searched PubMed for articles focusing on AI, rare diseases, and Fabry disease published anytime up to 08 January 2025. Further searches, limited to articles published between 01 January 2021 and 31 December 2023, were also performed using double combinations of keywords related to AI and each organ affected in Fabry disease, and AI and rare diseases. RESULTS: In total, 20 articles on AI and Fabry disease were included. In the rare disease field, AI methods may be applied prospectively to large populations to identify specific patients, or retrospectively to large data sets to diagnose a previously overlooked rare disease. Different AI methods may facilitate Fabry disease diagnosis, help monitor progression in affected organs, and potentially contribute to personalized therapy development. The implementation of AI methods in general healthcare and medical imaging centres may help raise awareness of rare diseases and prompt general practitioners to consider these conditions earlier in the diagnostic pathway, while chatbots and telemedicine may accelerate patient referral to rare disease experts. The use of AI technologies in healthcare may generate specific ethical risks, prompting new AI regulatory frameworks aimed at addressing these issues to be established in Europe and the United States. CONCLUSION: AI-based methods will lead to substantial improvements in the diagnosis and management of rare diseases. The need for a human guarantee of AI is a key issue in pursuing innovation while ensuring that human involvement remains at the centre of patient care during this technological revolution.
- MeSH
- Fabry Disease * diagnosis MeSH
- Humans MeSH
- Artificial Intelligence * MeSH
- Rare Diseases * diagnosis MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
Data on the presentation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) in children have been based on small/regional cohorts and practices regarding both asymptomatic screening in minors and genetic testing differ greatly between countries. To provide a global perspective, we analyzed over 2100 children and adolescents with ADPKD from 32 countries in six World Health Organization regions: 1060 children from the multi-national ADPedKD registry were compared to 269 pediatric patients from the United Kingdom (RaDaR) and 825 from the European Rare Kidney Disease Registry (ERKReg). Asymptomatic family screening was a common mode of presentation (48% in ADPedKD, 62% in ERKReg) with broad international variability (19%-75%), but fairly stable temporal trends in both registries with no correlation to genetic testing. The national rates of genetic testing varied and correlated significantly with healthcare expenditure (odds ratio 1.030 per 100 United States Dollars/capita/year, in the ERKReg cohort), with little variation over time. Diagnosis due to prenatal abnormalities was more common than anticipated at 14% increasing steadily from 2000 onward in both registries. Realistically, a high proportion of children were diagnosed with ADPKD by active screening, underlining that families affected by ADPKD have a high need for counselling on the complex issues around presymptomatic diagnosis. Regional variations in rate of genetic testing appeared to be driven by economic factors. However, large differences in rate of active screening were not correlated to healthcare spending and probably reflect the influence of different of cultural, legal and ethical frameworks on families and clinicians in different healthcare systems.
- MeSH
- Child MeSH
- Genetic Testing statistics & numerical data economics MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Polycystic Kidney, Autosomal Dominant * diagnosis epidemiology genetics economics MeSH
- Child, Preschool MeSH
- Prenatal Diagnosis MeSH
- Registries MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Comparative Study MeSH
- Geographicals
- Europe MeSH
- United Kingdom MeSH
BACKGROUND: The primary objective of this study was to conduct a comprehensive questionnaire survey on the practices of research ethics committees reviewing academic research projects in Czechia. The study aims to provide an unbiased and objective assessment of the current practices of research ethics committees, namely to obtain the missing data on their functioning in the context of academic research, to identify difficulties and shortages that threaten the responsible functioning of research ethics committees in the country and to investigate the implementation of Additional Protocol on Biomedical Research CETS No. 195 in their practice. Such research has never been conducted in Czechia. METHODS: This was a mixed-methods study, in which the online survey with closed and open-ended questions was chosen to explore the situation regarding ethics assessment of research involving human participants. We developed a questionnaire containing 18 questions concerning several aspects of the functioning of research ethics committees. The questionnaire was in Czech language and was administered through the Qualtrics platform anonymously. The target group of 61 research ethics committees at research institutions was approached by emails and we received 43 completely filled questionnaires, i.e., response rate of 67%. RESULTS: We obtained valuable data on the functioning of research ethics committees in Czechia in three main domains: the mandate and composition of the committee; the scope of its agenda; the process of evaluation including the voting procedure. In addition, the final set of open-ended questions provided an in-depth look at the problems faced by research ethics committees in Czechia. From the results is evident that the responsible assessment of the ethics of research involving human subjects is still not satisfactorily addressed and established for routine practice in the country. CONCLUSIONS: The outcomes of our study revealed that the main problem of research ethics in Czechia is the lack of national legislation on research ethics governance. To address this problem, the country requires a legislative framework accompanied by supportive measures aimed at educating, guiding and advising research ethics committees, especially in the Czech academic environment. TRIAL REGISTRATION NUMBER: Not applicable.
- MeSH
- Biomedical Research ethics MeSH
- Ethics Committees, Research * MeSH
- Ethical Review MeSH
- Ethics, Research * MeSH
- Human Experimentation ethics MeSH
- Humans MeSH
- Surveys and Questionnaires MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- Czech Republic MeSH
Face transplantation is a viable reconstructive approach for severe craniofacial defects. Despite the evolution witnessed in the field, ethical aspects, clinical and psychosocial implications, public perception, and economic sustainability remain the subject of debate and unanswered questions. Furthermore, poor data reporting and sharing, the absence of standardized metrics for outcome evaluation, and the lack of consensus definitions of success and failure have hampered the development of a "transplantation culture" on a global scale. We completed a 2-round online modified Delphi process with 35 international face transplant stakeholders, including surgeons, clinicians, psychologists, psychiatrists, ethicists, policymakers, and researchers, with a representation of 10 of the 19 face transplant teams that had already performed the procedure and 73% of face transplants. Themes addressed included patient assessment and selection, indications, social support networks, clinical framework, surgical considerations, data on patient progress and outcomes, definitions of success and failure, public image and perception, and financial sustainability. The presented recommendations are the product of a shared commitment of face transplant teams to foster the development of face transplantation and are aimed at providing a gold standard of practice and policy.
- MeSH
- Delphi Technique MeSH
- Consensus MeSH
- Humans MeSH
- Facial Transplantation * methods MeSH
- Vascularized Composite Allotransplantation * MeSH
- Research Design MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
Face transplantation is a viable reconstructive approach for severe craniofacial defects. Despite the evolution witnessed in the field, ethical aspects, clinical and psychosocial implications, public perception, and economic sustainability remain the subject of debate and unanswered questions. Furthermore, poor data reporting and sharing, the absence of standardized metrics for outcome evaluation, and the lack of consensus definitions of success and failure have hampered the development of a "transplantation culture" on a global scale. We completed a 2-round online modified Delphi process with 35 international face transplant stakeholders, including surgeons, clinicians, psychologists, psychiatrists, ethicists, policymakers, and researchers, with a representation of 10 of the 19 face transplant teams that had already performed the procedure and 73% of face transplants. Themes addressed included patient assessment and selection, indications, social support networks, clinical framework, surgical considerations, data on patient progress and outcomes, definitions of success and failure, public image and perception, and financial sustainability. The presented recommendations are the product of a shared commitment of face transplant teams to foster the development of face transplantation and are aimed at providing a gold standard of practice and policy.
- MeSH
- Delphi Technique MeSH
- Consensus MeSH
- Humans MeSH
- Facial Transplantation * methods MeSH
- Vascularized Composite Allotransplantation * MeSH
- Research Design MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
Pozadí problematiky: Demence je život limitující onemocnění bez dostupnosti kurativní léčby. Pacienti a rodiny mohou potřebovat paliativní péči specifickou pro demenci. Cíl: Definovat optimální paliativní péči při demenci. Metody: Studie s využitím metody Delphi (delfské metody) o pěti kolech. Na základě literatury sestavila hlavní skupina čítající 12 odborníků ze 6 zemí soubor základních domén s hlavními doporučeními pro každou doménu. K jejich vyhodnocení formou on-line dotazníku o dvou kolech se zpětnou vazbou jsme vyzvali 89 odborníků z 27 zemí. Konsenzus byl stanoven podle předem definovaných kritérií. Náplní čtvrtého kola byla rozhodnutí hlavního týmu a páté kolo obnášelo vstup ze strany Evropské asociace paliativní péče. Výsledky: Celkem 64 (72 %) odborníků z 23 zemí vyhodnotilo soubor 11 domén a 57 doporučení. Bylo dosaženo bezprostředního a úplného konsenzu ohledně následujících osmi domén zahrnujících doporučení: péče zaměřená na pacienta, komunikace a sdílené rozhodování; optimální léčba příznaků a zajišťování komfortu (tyto dvě byly identifikovány jako ústřední pro péči a výzkum); stanovení cílů plánování péče; kontinuita péče; psychosociální a spirituální podpora; péče o rodinu a její zapojení; vzdělání zdravotnického týmu; společenské a etické otázky. Po revizi bylo dále dosaženo úplného konsenzu pro určování prognózy a včasné rozpoznání umírání. V oblasti doporučení pro výživu a hydrataci (vyvarování se nadměrně agresivní, zatěžující nebo neužitečné léčby) a pro stadia demence v souvislosti s cíli péče (použitelnost paliativní péče) bylo dosaženo středního konsenzu. Závěr: Podáváme první definici paliativní péče při demenci na základě důkazů a konsenzu, která nabízí rámec k formulování doporučení pro klinickou praxi, politiky a pro výzkum.
Background: Dementia is a life-limiting disease without curative treatments. Patients and families may need palliative care specific to dementia. Aim: To define optimal palliative care in dementia. Methods: Five-round Delphi study. Based on literature, a core group of 12 experts from 6 countries drafted a set of core domains with salient recommendations for each domain. We invited 89 experts from 27 countries to evaluate these in a two-round online survey with feedback. Consensus was determined according to predefined criteria. The fourth round involved decisions by the core team, and the fifth involved input from the European Association for Palliative Care. Results: A total of 64 (72%) experts from 23 countries evaluated a set of 11 domains and 57 recommendations. There was immediate and full consensus on the following eight domains, including the recommendations: person-centred care, communication and shared decision-making; optimal treatment of symptoms and providing comfort (these two identified as central to care and research); setting care goals and advance planning; continuity of care; psychosocial and spiritual support; family care and involvement; education of the health care team; and societal and ethical issues. After revision, full consensus was additionally reached for prognostication and timely recognition of dying. Recommendations on nutrition and dehydration (avoiding overly aggressive, burdensome or futile treatment) and on dementia stages in relation to care goals (applicability of palliative care) achieved moderate consensus. Conclusion: We have provided the first definition of palliative care in dementia based on evidence and consensus, a framework to provide guidance for clinical practice, policy and research.
- Keywords
- Bílá kniha,
- MeSH
- Delphi Technique MeSH
- Dementia * therapy MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Palliative Care * standards MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Practice Guidelines as Topic MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Europe MeSH
Osteosarcoma and Ewing sarcoma are bone tumors mostly diagnosed in children, adolescents, and young adults. Despite multimodal therapy, morbidity is high and survival rates remain low, especially in the metastatic disease setting. Trials investigating targeted therapies and immunotherapies have not been groundbreaking. Better understanding of biological subgroups, the role of the tumor immune microenvironment, factors that promote metastasis, and clinical biomarkers of prognosis and drug response are required to make progress. A prerequisite to achieve desired success is a thorough, systematic, and clinically linked biological analysis of patient samples, but disease rarity and tissue processing challenges such as logistics and infrastructure have contributed to a lack of relevant samples for clinical care and research. There is a need for a Europe-wide framework to be implemented for the adequate and minimal sampling, processing, storage, and analysis of patient samples. Two international panels of scientists, clinicians, and patient and parent advocates have formed the Fight Osteosarcoma Through European Research consortium and the Euro Ewing Consortium. The consortia shared their expertise and institutional practices to formulate new guidelines. We report new reference standards for adequate and minimally required sampling (time points, diagnostic samples, and liquid biopsy tubes), handling, and biobanking to enable advanced biological studies in bone sarcoma. We describe standards for analysis and annotation to drive collaboration and data harmonization with practical, legal, and ethical considerations. This position paper provides comprehensive guidelines that should become the new standards of care that will accelerate scientific progress, promote collaboration, and improve outcomes.
- MeSH
- Biological Specimen Banks MeSH
- Sarcoma, Ewing * therapy pathology diagnosis MeSH
- Humans MeSH
- Biomarkers, Tumor MeSH
- Bone Neoplasms * therapy pathology MeSH
- Specimen Handling * methods standards MeSH
- Osteosarcoma * therapy pathology diagnosis MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
- Geographicals
- Europe MeSH
Telemedicína, tedy praxe poskytování distanční zdravotní péče pomocí informačních a komunikačních technologií, přináší řadu etických úvah. Etické aspekty telemedicíny se s jejím rozvojem stávají stále důležitějším hlediskem při vyvažování mezi výhodami používání pokročilých technologií, zajištěním odpovědných postupů zdravotní péče v prostředí telemedicíny a ochranou práv pacientů. Poskytovatelé vzdálené zdravotní péče, pacienti, tvůrci relevantních politik a vývojáři technologií v oblasti telemedicíny čelí mnoha etickým výzvám, jež je nutné řešit. Klíčová etická témata zahrnují v první řadě ochranu práv pacientů a jejich soukromí, včetně zajištění rovného přístupu ke zdravotní péči poskytované vzdáleným přístupem. Důležitou součástí je udržení kvalitního vztahu mezi lékařem a pacientem ve virtuálním prostředí. Další oblasti zahrnují obavy o bezpečnost dat a kvalitu poskytované péče s důrazem na dodržování etických standardů v digitálním prostředí. Kritickým zkoumáním uvedených etických dimenzí je třeba vytvořit závazné etické směrnice a právní regulace, které by mohly pomoci zainteresovaným stranám vypracovat efektivní strategie a metodické postupy pro navigaci komplexním prostředím telemedicíny, zachovávat nejvyšší etické standardy a podporovat dobrý život pacientů (ve smyslu welfare). Vyvážený přístup, který zohledňuje benefity telemedicíny a zároveň včas řeší vznikající etické výzvy, by měl vycházet z předem připraveného a respektovaného etického rámce.
Telemedicine, defined as the practice of delivering healthcare services remotely using information and communications technologies, raises a plethora of ethical considerations. As telemedicine evolves, its ethical dimensions play an increasingly pivotal role in balancing the benefits of advanced technologies, ensuring responsible healthcare practices within telemedicine environments, and safeguarding patient rights. Healthcare providers, patients, policymakers, and technology developers involved in telemedicine encounter numerous ethical challenges that need to be addressed. Key ethical topics include prioritizing the protection of patient rights and privacy, which entails ensuring equitable access to remote healthcare services and maintaining the doctor-patient relationship in virtual settings. Additional areas of focus encompass data security concerns and the quality of healthcare delivery, underscoring the importance of upholding ethical standards in the digital realm. A critical examination of these ethical dimensions highlights the necessity of establishing binding ethical guidelines and legal regulations. These measures could assist stakeholders in formulating effective strategies and methodologies to navigate the complex telemedicine landscape, ensuring adherence to the highest ethical standards and promoting patient welfare. A balanced approach to telemedicine ethics should integrate the benefits of telemedicine with proactive measures to address emerging ethical challenges and should be grounded in a well-prepared and respected ethical framework.
