Predictive Preventive And Personalised Medicine From Bench To Bedside

This volume presents advanced bio/medical sciences with a particular value for translating research achievements into daily medical practice in the framework of Predictive, Preventive and Personalised Medicine (3PM/PPPM). First two decades of the 21st century are characterised by epidemics of non-communicable diseases such as many hundreds of millions of patients diagnosed with cardiovascular diseases and the type 2 diabetes mellitus, breast, lung, liver and prostate malignancies, neurological, sleep, mood and eye disorders, amongst others. Consequent socio-economic burden is tremendous. Unprecedented decrease in age of maladaptive individuals has been reported. The absolute majority of expanding non-communicable disorders carry a chronic character, over a couple of years progressing from reversible suboptimal health conditions to irreversible severe pathologies and cascading collateral complications. The paradigm change from reactive to predictive preventive and personalised medicine is essential to promote population health by application of individualised patient profiling, multi-parametric analysis leading to cost-effective targeted prevention. To this end, inadequate data for risk assessment on speed and urgency of COVID-19, combined with increased globalization of human society, led to the rapid spread of COVID-19. Despite an abundance of digital methods that could be used in slowing or stopping this virus and future pandemics, the world remains unprepared, and lessons have not been learned from previous cases of pandemics. The book presents PPPM strategies which might be of great clinical utility for future pandemics. In a long-term way, a significantly improved healthcare economy is one of the clear benefits of the proposed paradigm shift; a tight collaboration between all stakeholders including scientific community, healthcare providers, patient organisations, policy-makers and educators is analysed for the smooth implementation of the 3PM concepts. Further issues linked to big data management and medical ethics have to be carefully treated in the context of application of artificial intelligence in medicine.

Pharmacogenomics supports personalized medicine by translating genome-based knowledge into clinical practice, offering enhanced benefit for patients and health-care systems at large. Current routine practice for diagnosing and treating patients is conducted by correlating parameters such as age, gender and weight with risks and expected treatment outcomes. In the new era of personalized medicine the healthcare provider is equipped with improved ability to prevent, diagnose, treat and predict outcomes on the basis of complex information sources, including genetic and genomic data. Targeted therapy and reliable prediction of expected outcomes offer patients access to better healthcare management, by way of identifying the therapies effective for the relevant patient group, avoiding prescription of unnecessary treatment and reducing the likelihood of developing adverse drug reactions.

This book explores how PPPM, clinical practice, and basic research could be best served by information technology (IT). A use-case was developed for hepatocellular carcinoma (HCC). The subject was approached with four interrelated tasks: (1) review of clinical practices relating to HCC; (2) propose an IT system relating to HCC, including clinical decision support and research needs; (3) determine how a clinical liver cancer center can contribute; and, (4) examine the enhancements and impact that the first three tasks will have on the management of HCC. An IT System for Personalized Medicine (ITS-PM) for HCC will provide the means to identify and determine the relative value of the wide number of variables, including clinical assessment of the patient -- functional status, liver function, degree of cirrhosis, and comorbidities; tumor biology, at a molecular, genetic and anatomic level; tumor burden and individual patient response; medical and operative treatments and their outcomes.

Nowhere is the explosion in comprehensive genomic testing more evident than in oncology. Multiple consensus guidelines now recommend molecular testing as the standard of care for most metastatic tumors. To aid in the advancement of this rapidly changing field, we intend this Special Issue of JPM to focus on technical developments in the genomic profiling of cancer, detail promising somatic alterations that either are, or have a high likelihood of being, relevant in the near future, and to address issues related to the pricing and value of these tests. The last few years have seen the cost of molecular testing decrease by orders of magnitude. In 2018, we saw the first "site-agnostic" drug approvals in cancer (for microsatellite unstable cancer (PD-1 inhibitors) and NTRK-fusions (TRK inhibitors)). Research on targetable mutations, determination of genetic "signatures" that can use multiple individual genes/pathways, development of targeted therapy, and insight into the value of new technology remains at the cutting edge of research in this field. We are soliciting papers that present new technologies to assess predictive biomarkers in cancer, original research (pre-clinical or clinical) that demonstrates promise for particular targeted therapies in cancer, and articles that explore the clinical and financial impacts of this paradigmatic shift in cancer diagnostics and treatment.

Motivated by the explosion of molecular data on humans-particularly data associated with individual patients-and the sense that there are large, as-yet-untapped opportunities to use this data to improve health outcomes, Toward Precision Medicine explores the feasibility and need for "a new taxonomy of human disease based on molecular biology" and develops a potential framework for creating one. The book says that a new data network that integrates emerging research on the molecular makeup of diseases with clinical data on individual patients could drive the development of a more accurate classification of diseases and ultimately enhance diagnosis and treatment. The "new taxonomy" that emerges would define diseases by their underlying molecular causes and other factors in addition to their traditional physical signs and symptoms. The book adds that the new data network could also improve biomedical research by enabling scientists to access patients' information during treatment while still protecting their rights. This would allow the marriage of molecular research and clinical data at the point of care, as opposed to research information continuing to reside primarily in academia. Toward Precision Medicine notes that moving toward individualized medicine requires that researchers and health care providers have access to very large sets of health- and disease-related data linked to individual patients. These data are also critical for developing the information commons, the knowledge network of disease, and ultimately the new taxonomy.

This book will compile a collection of chapters dedicated to varied aspects of PPPM in neuropsychiatric and neurodegenerative diseases. Among the topics to be covered are: Recent advances in ALS research News about Clinical aspects and advanced therapy approaches in personalized treatment of ALS Schizophrenia: New treatments and clinical aspects Predictive, Preventive and Personalised Medicine in aging macular degeneration Advances in Multiple Sclerosis Pharmacogenetics, Tailoring Treatment Efficacy, Safety and Regimen Selection Multiple sclerosis related biomarkers: perspectives for clinical application Preventive clinical trials in brain aging: new trends & the need of guidelines MCI_ clinical guidelines in early diagnosis of dementia Alzheimer's disease: diagnostics, prognostics and the road to prevention Biomarkers for early diagnosis of Parkinson's and Alzheimer's diseases Synucleinopathies, tauopathies, TDP-43 proteinopathies and amyloidosis PSP, MSA and other parkinsonisms

This book covers the discovery of molecular biomarkers, the development of laboratory testing techniques and their clinical applications, focusing on basic research to clinical practice. It introduces new and crucial knowledge and ethics of clinical molecular diagnosis. This book emphasizes the applications of clinical molecular diagnostic test on health management, especially from different diseased organs. It lets readers to understand and realize precision healthcare.

This book provides a comprehensive coverage of the state of the art in precision medicine in stroke. It starts by explaining and giving general information about precision medicine. Current applications in different strokes types (ischemic, haemorrhagic) are presented from diagnosis to treatment. In addition, ongoing research in the field (early stroke diagnosis and estimation of prognosis) is extensively discussed. The final part provides an in-depth discussion of how different interdisciplinary areas like artificial intelligence, molecular biology and genetics are contributing to this area. Precision Medicine in Stroke provides a practical approach to each chapter, reinforcing clinical applications and presenting clinical cases. This book is intended for all clinicians that interact with stroke patients (neurologists, internal medicine doctors, general practitioners, neurosurgeons), students and basic researchers.