Biomedical Informatics Applications for Precision Management of Neurodegenerative Diseases

Modern medicine is in the midst of a revolution driven by “big data,” rapidly advancing computing power, and broader integration of technology into healthcare. Highly detailed and individualized profiles of both health and disease states are now possible, including biomarkers, genomic profiles, cognitive and behavioral phenotypes, high-frequency assessments, and medical imaging. Although these data are incredibly complex, they can potentially be used to understand multi-determinant causal relationships, elucidate modifiable factors, and ultimately customize treatments based on individual parameters. Especially for neurodegenerative diseases, where an effective therapeutic agent has yet to be discovered, there remains a critical need for an interdisciplinary perspective on data and information management due to the number of unanswered questions. Biomedical informatics is a multidisciplinary field that falls at the intersection of information technology, computer and data science, engineering, and healthcare that will be instrumental for uncovering novel insights into neurodegenerative disease research, including both causal relationships and therapeutic targets and maximizing the utility of both clinical and research data. The present study aims to provide a brief overview of biomedical informatics and how clinical data applications such as clinical decision support tools can be developed to derive new knowledge from the wealth of available data to advance clinical care and scientific research of neurodegenerative diseases in the era of precision medicine

Precision Medicine Informatics: Principles, Prospects, and Challenges

Precision Medicine (PM) is an emerging approach that appears with the impression of changing the existing paradigm of medical practice. Recent advances in technological innovations and genetics, and the growing availability of health data have set a new pace of the research and imposes a set of new requirements on different stakeholders. To date, some studies are available that discuss about different aspects of PM. Nevertheless, a holistic representation of those aspects deemed to confer the technological perspective, in relation to applications and challenges, is mostly ignored. In this context, this paper surveys advances in PM from informatics viewpoint and reviews the enabling tools and techniques in a categorized manner. In addition, the study discusses how other technological paradigms including big data, artificial intelligence, and internet of things can be exploited to advance the potentials of PM. Furthermore, the paper provides some guidelines for future research for seamless implementation and wide-scale deployment of PM based on identified open issues and associated challenges. To this end, the paper proposes an integrated holistic framework for PM motivating informatics researchers to design their relevant research works in an appropriate context.Comment: 22 pages, 8 figures, 5 tables, journal pape

Tensions and paradoxes in electronic patient record research: a systematic literature review using the meta-narrative method

Background: The extensive and rapidly expanding research literature on electronic patient records (EPRs) presents challenges to systematic reviewers. This literature is heterogeneous and at times conflicting, not least because it covers multiple research traditions with different underlying philosophical assumptions and methodological approaches. Aim: To map, interpret and critique the range of concepts, theories, methods and empirical findings on EPRs, with a particular emphasis on the implementation and use of EPR systems. Method: Using the meta-narrative method of systematic review, and applying search strategies that took us beyond the Medline-indexed literature, we identified over 500 full-text sources. We used ‘conflicting’ findings to address higher-order questions about how the EPR and its implementation were differently conceptualised and studied by different communities of researchers. Main findings: Our final synthesis included 24 previous systematic reviews and 94 additional primary studies, most of the latter from outside the biomedical literature. A number of tensions were evident, particularly in relation to: [1] the EPR (‘container’ or ‘itinerary’); [2] the EPR user (‘information-processer’ or ‘member of socio-technical network’); [3] organizational context (‘the setting within which the EPR is implemented’ or ‘the EPR-in-use’); [4] clinical work (‘decision-making’ or ‘situated practice’); [5] the process of change (‘the logic of determinism’ or ‘the logic of opposition’); [6] implementation success (‘objectively defined’ or ‘socially negotiated’); and [7] complexity and scale (‘the bigger the better’ or ‘small is beautiful’). Findings suggest that integration of EPRs will always require human work to re-contextualize knowledge for different uses; that whilst secondary work (audit, research, billing) may be made more efficient by the EPR, primary clinical work may be made less efficient; that paper, far from being technologically obsolete, currently offers greater ecological flexibility than most forms of electronic record; and that smaller systems may sometimes be more efficient and effective than larger ones. Conclusions: The tensions and paradoxes revealed in this study extend and challenge previous reviews and suggest that the evidence base for some EPR programs is more limited than is often assumed. We offer this paper as a preliminary contribution to a much-needed debate on this evidence and its implications, and suggest avenues for new research

Clinical proteomics for precision medicine: the bladder cancer case

Precision medicine can improve patient management by guiding therapeutic decision based on molecular characteristics. The concept has been extensively addressed through the application of –omics based approaches. Proteomics attract high interest, as proteins reflect a “real-time” dynamic molecular phenotype. Focusing on proteomics applications for personalized medicine, a literature search was conducted to cover: a) disease prevention, b) monitoring/ prediction of treatment response, c) stratification to guide intervention and d) identification of drug targets. The review indicates the potential of proteomics for personalized medicine by also highlighting multiple challenges to be addressed prior to actual implementation. In oncology, particularly bladder cancer, application of precision medicine appears especially promising. The high heterogeneity and recurrence rates together with the limited treatment options, suggests that earlier and more efficient intervention, continuous monitoring and the development of alternative therapies could be accomplished by applying proteomics-guided personalized approaches. This notion is backed by studies presenting biomarkers that are of value in patient stratification and prognosis, and by recent studies demonstrating the identification of promising therapeutic targets. Herein, we aim to present an approach whereby combining the knowledge on biomarkers and therapeutic targets in bladder cancer could serve as basis towards proteomics- guided personalized patient management

Translational Research in the Era of Precision Medicine: Where We Are and Where We Will Go

The advent of Precision Medicine has globally revolutionized the approach of translational research suggesting a patient-centric vision with therapeutic choices driven by the identification of specific predictive biomarkers of response to avoid ineffective therapies and reduce adverse effects. The spread of "multi-omics" analysis and the use of sensors, together with the ability to acquire clinical, behavioral, and environmental information on a large scale, will allow the digitization of the state of health or disease of each person, and the creation of a global health management system capable of generating real-time knowledge and new opportunities for prevention and therapy in the individual person (high-definition medicine). Real world data-based translational applications represent a promising alternative to the traditional evidence-based medicine (EBM) approaches that are based on the use of randomized clinical trials to test the selected hypothesis. Multi-modality data integration is necessary for example in precision oncology where an Avatar interface allows several simulations in order to define the best therapeutic scheme for each cancer patient

Unconventional data, unprecedented insights: leveraging non-traditional data during a pandemic

Introduction: The COVID-19 pandemic prompted new interest in non-traditional data sources to inform response efforts and mitigate knowledge gaps. While non-traditional data offers some advantages over traditional data, it also raises concerns related to biases, representativity, informed consent and security vulnerabilities. This study focuses on three specific types of non-traditional data: mobility, social media, and participatory surveillance platform data. Qualitative results are presented on the successes, challenges, and recommendations of key informants who used these non-traditional data sources during the COVID-19 pandemic in Spain and Italy. Methods: A qualitative semi-structured methodology was conducted through interviews with experts in artificial intelligence, data science, epidemiology, and/or policy making who utilized non-traditional data in Spain or Italy during the pandemic. Questions focused on barriers and facilitators to data use, as well as opportunities for improving utility and uptake within public health. Interviews were transcribed, coded, and analyzed using the framework analysis method. Results: Non-traditional data proved valuable in providing rapid results and filling data gaps, especially when traditional data faced delays. Increased data access and innovative collaborative efforts across sectors facilitated its use. Challenges included unreliable access and data quality concerns, particularly the lack of comprehensive demographic and geographic information. To further leverage non-traditional data, participants recommended prioritizing data governance, establishing data brokers, and sustaining multi-institutional collaborations. The value of non-traditional data was perceived as underutilized in public health surveillance, program evaluation and policymaking. Participants saw opportunities to integrate them into public health systems with the necessary investments in data pipelines, infrastructure, and technical capacity. Discussion: While the utility of non-traditional data was demonstrated during the pandemic, opportunities exist to enhance its impact. Challenges reveal a need for data governance frameworks to guide practices and policies of use. Despite the perceived benefit of collaborations and improved data infrastructure, efforts are needed to strengthen and sustain them beyond the pandemic. Lessons from these findings can guide research institutions, multilateral organizations, governments, and public health authorities in optimizing the use of non-traditional data.This project was primarily supported by Fulbright-Schuman Program. The project was partially supported by the Valencian Government (Convenio Singular signed with Generalitat Valenciana, Conselleria de Innovacion, Industria, Comercio y Turismo, Dirección General de Innovacion), which also partially supported NO