Precision Medicine in Pediatric Health is an invaluable resource on state-of-the-art tools, technologies and social and ethical issues involved in fully realizing precision medicine in new pediatric research and healthcare. The book adopts a holistic approach that is grounded in key learning points and practical case studies of interest to interdisciplinary teams of researchers and clinicians working in pediatrics. Chapters provide a thorough introduction to basic principles of precision medicine, its growing role in research and clinical care, relevant technologies and digital health. From there, the book examines best practices and offers support for implementing precision medicine in research and clinical settings. Chapters are devoted to varying specialties, such as prenatal and fetal health, oncology, cardiology, neurology, rare diseases, developmental disorders, and precision therapeutics, including small molecule and gene and cell-based therapies. These sections are followed by a close look at ethical, legal and social implications of precision medicine in pediatrics, patient perspectives and next steps in research and clinical translation. Presents succinct commentary and key learning points that support the translation of precision and genomic medicine Highlights the practical use of precision medicine in the management of pediatric patients Provides a comprehensive volume that is written and edited by leading researchers, clinicians and scientists
The author uses decades of experience and interviews with experts in precision medicine to explain past, present, and future of precision medicine. She reviews the full continuum of personalizing precision medicine, including diagnostics, therapeutics, big data, supportive care, regulation, and reimbursement and innovation in precision medicine worldwide. • Combines a unique cross section of history, current technologies, and future directions for how precision medicine has and will affect people worldwide • Reviews precision medicine around the world, including the US, China, Japan, the Middle East, India, Europe, and Latin America • Discusses a number of diseases areas – cancer, cardiovascular, neurodegenerative, infectious disease, pain, immunology, rare diseases • Includes information and quotes from over 100 interviews with key industry experts in biotech, pharma, informatics, diagnostics, health providers, advocacy groups, and more. • Includes stories illustrating current issues and future promises in precision medicine for a human touch
Medical by National Academies of Sciences, Engineering, and Medicine
Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
On January 20, 2015, President Obama announced the Precision Medicine Initiative (PMI) in his State of the Union address. The PMI, by developing new approaches for detecting, measuring, and analyzing a wide range of biomedical information including molecular, genomic, cellular, clinical, behavioral, physiological, and environmental parameters, is intended to enable a new era of medicine in which researchers, providers, and patients work together to develop individualized care. Part of this effort included the creation of a national, large-scale research participant group, or cohort. The PMI Cohort Program is aimed at extending precision medicine to many diseases, including both rare and common diseases such as diabetes, heart disease, Alzheimer's disease, obesity, and mental illnesses such as depression, bipolar disorder, and schizophrenia, by building a national research cohort of 1 million or more U.S. participants. An important challenge to assembling the PMI Cohort will be to reach individuals who are socioeconomically disadvantaged. Individuals who are socioeconomically disadvantaged have lower health literacy; often belong to racial, ethnic, and minority communities; and are often less likely to participate in research studies and biorepositories. To explore possible strategies and messaging designs, the Roundtable on Health Literacy formed an ad hoc committee charged with planning and conducting a 1-day public workshop on the intersection of health literacy and precision medicine. The workshop participants discussed a variety of topics including an overview of precision medicine and its potential, the relevance of health literacy to the success of precision medicine efforts, and perspectives and understanding of different groups, such as health care providers, consumers, and insurers. This publication summarizes the presentations and discussions from the workshop.
Progress and Challenges in Precision Medicine presents an insightful overview to the myriad factors of personalized and precision medicine. The availability of the human genome, large amounts of data on individual genetic variations, environmental interactions, influence of lifestyle, and cutting-edge tools and technologies for big-data analysis have led to the age of personalized and precision medicine. Bringing together a global range of experts on precision medicine, this book collects previously scattered information into one concise volume which covers the most important developments so far in precision medicine and also suggests the most likely avenues for future development. The book includes clinical information, informatics, public policy implications, and information on case studies. It is a useful reference and background work for students, researchers, and clinicians working in the biomedical and medical fields, as well as policymakers in the health sciences. Provides an overview of the growing field of precision medicine Contains chapters from geographically diverse experts in their field Explores important aspects of precision medicine, including applications, ethics, and development
This book offers easy access to the everyday ethics problems that occur in the medical care of children. It contains practical guidance on how physicians and other healthcare practitioners may manage both straightforward and complex ethics problems. The book provides a readable and comprehensive introduction to ethics issues for beginners and is also extremely valuable to experienced practitioners.This work covers important "classical" ethical issues such as privacy, confidentiality, truth telling, and discusses the elements of the relationships that might exist between parents and healthcare providers. However, the book also provides a resource for new and emerging areas of bioethics. These include issues arising in the new population of children who are beginning to survive the neonatal and infant periods with a multitude of problems – “children with medical complexity". Finally, it also includes a section on the advantages and pitfalls of social media use.
Intelligence-Based Medicine: Data Science, Artificial Intelligence, and Human Cognition in Clinical Medicine and Healthcare provides a multidisciplinary and comprehensive survey of artificial intelligence concepts and methodologies with real life applications in healthcare and medicine. Authored by a senior physician-data scientist, the book presents an intellectual and academic interface between the medical and the data science domains that is symmetric and balanced. The content consists of basic concepts of artificial intelligence and its real-life applications in a myriad of medical areas as well as medical and surgical subspecialties. It brings section summaries to emphasize key concepts delineated in each section; mini-topics authored by world-renowned experts in the respective key areas for their personal perspective; and a compendium of practical resources, such as glossary, references, best articles, and top companies. The goal of the book is to inspire clinicians to embrace the artificial intelligence methodologies as well as to educate data scientists about the medical ecosystem, in order to create a transformational paradigm for healthcare and medicine by using this emerging new technology. Covers a wide range of relevant topics from cloud computing, intelligent agents, to deep reinforcement learning and internet of everything Presents the concepts of artificial intelligence and its applications in an easy-to-understand format accessible to clinicians and data scientists Discusses how artificial intelligence can be utilized in a myriad of subspecialties and imagined of the future Delineates the necessary elements for successful implementation of artificial intelligence in medicine and healthcare
The Clinics Collections titles take a multidisciplinary approach to today’s practice of medicine, selecting the most recent and relevant articles from the Clinics series and combining them into a single source of information on a focused topic. Articles are chosen from multiple Clinics to highlight the range of specialties covering major medical issues, delivering the information needed for successful interdisciplinary teamwork and effective patient care. Written from a variety of medical perspectives, these articles offer deeper insight into how each specialty cares for its patients and provide a unique entry into sharing best concepts for the entire medical team. Clinics Collections: Precision Medicine draws from Elsevier’s Clinics Review Articles database to provide today’s medical teams with practical clinical advice and insights on this timely medical model. It guides readers on how to apply current primary research findings to everyday practice, keep up with new and improved treatment methods, and improve patient outcomes. Areas of focus include breast cancer, lung cancer, melanoma, arthritis, sleep medicine, and pediatric oncology. Each article begins with keywords and key points for immediate access to the most critical information. Articles are presented in an easy-to-digest and concisely worded format.
Precision Medicine for Investigators, Practitioners and Providers addresses the needs of investigators by covering the topic as an umbrella concept, from new drug trials to wearable diagnostic devices, and from pediatrics to psychiatry in a manner that is up-to-date and authoritative. Sections include broad coverage of concerning disease groups and ancillary information about techniques, resources and consequences. Moreover, each chapter follows a structured blueprint, so that multiple, essential items are not overlooked. Instead of simply concentrating on a limited number of extensive and pedantic coverages, scholarly diagrams are also included. Provides a three-pronged approach to precision medicine that is focused on investigators, practitioners and healthcare providers Covers disease groups and ancillary information about techniques, resources and consequences Follows a structured blueprint, ensuring essential chapters items are not overlooked
This book adopts an integrated and workflow-based treatment of the field of personalized and precision medicine (PPM). Outlined within are established, proven and mature workflows as well as emerging and highly-promising opportunities for development. Each workflow is reviewed in terms of its operation and how they are enabled by a multitude of informatics methods and infrastructures. The book goes on to describe which parts are crucial to discovery and which are essential to delivery and how each of these interface and feed into one-another. Personalized and Precision Medicine Informatics provides a comprehensive review of the integrative as well as interpretive nature of the topic and brings together a large body of literature to define the topic and ensure that this is the key reference for the topic. It is an unique contribution that is positioned to be an essential guide for both PPM experts and non-experts, and for both informatics and non-informatics professionals.
Each year, Advances in Pediatrics focuses on providing current clinical information on important topics in pediatrics. Dr. Carol Berkowitz and her editorial board, comprised of top experts in the field, have assembled authors to provide updates on the following topics: Evaluation and Management of Febrile Infants; Pediatric Emergency Medicine and Ultrasonography; The Patient-Centered Pediatric Emergency Department; Health Considerations of Refuge and Immigrant Children; Management of scoliosis; Health and Wellness for LGBTQ Youth; Sexually exploited children: recognizing and addressing; Movement disorders in children; Childhood trauma management in primary care; Feeding issues in young children; Physician Well-being and Burnout; New Molecular Methods for Diagnosing Infectious Diseases; Parental refusal: treatments, procedures and vaccines; Pediatric oncology in the ICU setting; Diaphragmatic hernia: Management and Outcomes; and Global Health and Pediatric Education: Opportunities and Challenges. Readers will come away with the clinical information that supplements their professional knowledge so they can make informed clinical decisions that improve patient outcomes.
This eBook contains the 19 articles that were part of a Special Topic in Frontiers in Genetics entitled “Genetics Research in Electronic Health Records Linked to DNA Biobanks”. The Special Issue was published on-line in 2014-2015 and contained papers representing the diverse research ongoing in the integration of electronic health records (EHR) with genomics through basic, clinical, and translational research. We have divided the eBook into four Chapters. Chapter 1 describes the Electronic Medical Records and Genomics (eMERGE) network and its contri-bution to genomics. It highlights methodological questions related to large data sets such as imputation and population stratification. Chapter 2 describes the results of genetic studies on different diseases for which all the phenotypic information was extracted from the EHR with highly specific ePhenotyping algorithms. Chapter 3 focuses on more complex analyses of the genome including copy number variants (CNV), pleiotropy com-bined with phenome-wide association studies (PheWAS), and epistasis (gene-gene interactions). Chapter 4 discusses the use of genetic data together with EHR-derived clinical data in clinical settings, and how to return genetic results to patients and providers. It also contains a comprehensive review on genetic risk scores. We have included mostly Original Research Articles in the eBook, but also Reviews and Methods papers on the relevant topics of analyzing and integrating genomic data. The release of this eBook is timely, since several countries are launching Precision Medicine initiatives. Precision Medicine is a new concept in patient care taking into account individual variability in genetic, environmental and lifestyle factors, when treating diseases or trying to prevent them from developing. It has become an important focus for biomedical, clinical and translational informatics. The papers presented in this eBook are well positioned to educate the readers about Precision Medicine and to demonstrate the potential study designs, methods, strategies, and applications where this type of research can be performed successfully. The ultimate goal is to improve diagnostics and provide better, more targeted care to the patient.
This book reviews public health activities such as awareness campaigns, health education, and strategies for health policy based on recent epidemiological studies that provide insights into epigenetic processes caused by environmental factors and developmental plasticity. It provides the latest concepts and findings on the public health aspects of Developmental Origins of Health and Disease (DOHaD) research regarding early prevention of non-communicable diseases (NCDs). Attention is especially paid to key issues, including strategies for the effective prevention of NCDs in developmental stages of life and younger generations rather than in adults and the elderly. Public Health Aspects in Developmental Origins of Health and Disease (DOHaD) is structured in two parts; the first focuses on general remarks reviewing specific recommendations, practical methods and protocols, and future goals regarding public health aspects, while the second presents brief profiles of individual cohorts and consortia studies. This collection will benefit both new and established researchers, as well as students in the fields of epidemiology, clinical medicine, nutrition, education, and public health who are seeking comprehensive information on DOHaD and preemptive medicine.
This issue of Medical Clinics of North America, guest edited by Dr. Howard P. Levy, is devoted to Genetics and Precision Medicine. Articles in this important issue include: Family History in Genetics and Precision Medicine; Genetic Testing: Who, What, When and Why; Test Result Disclosure and When to Consult a Geneticist or Genetic Counselor; Patient Engagement to Inform a Large-scale Population Sequencing Program; Pharmacogenetics: Prescribing Precisely; DNA Testing for Early Cancer Diagnosis; Breast Cancer: BRCA and Beyond; Colon Cancer and Other GI Cancers; Neurofibromatosis and Related Disorders; Marfan, Loeys Dietz, and Other Syndromes Causing Arterial Fragility; Ehlers Danlos Syndromes and Related Disorders of Connective Tissue; Parkinson, Alzheimer, and Other Neuropsychiatric Diseases; Genetic Neurologic and Neuromuscular Disorders; and Polycystic Kidney Disease and Other Genetic Kidney Disorders. A CME program is also available for this title.
Precision medicine is an approach that proposes customized medical care based on the individual characteristics of each patient. The rapidly emerging field not only holds great promise for diagnosis of disease and prediction of risk of developing diseases, but also offers the possibility of remarkably fine-tuned remedies to improve patient health while minimizing the risk of harmful side effects. Many technologies including genetics, informatics, and medical imaging, are rapidly expanding the scope of precision medicine. Among these technologies, imaging is poised to play a major role in the age of precision medicine. By characterizing anatomy, physiology and metabolism of the patient, medical imaging enables precise, personalized procedures and predictive, patient-specific therapy selection. In recent years, image-guided treatment procedures are becoming more and more common in hospitals, replacing conventional surgery or allowing faster recoveries with fewer post-procedure complications. As the most widely used modality, ultrasound is playing an increasingly important role towards moving precision medicine into clinical practice. It is a safe, inexpensive diagnostic tool and capable of producing real-time and non-invasive images without significant biological effects. To date, lots of ultrasound imaging technology, such as gray-scale, color Doppler flow imaging (CDFI), contrast enhanced ultrasound (CEUS), elastography have been developed, which have greatly improved disease diagnosis, treatment and prognosis. Thanks to these progress, ultrasound imaging has also been used in fields that were not previously involved, such as the lungs and musculoskeletal tissues. With the rapid development of ultrasound contrast agents, ultrasound molecular imaging is moving from animal study into clinical practice. First-in-human results of ultrasound molecular imaging with BR55 (a kinase insert domain receptor [KDR]–targeted contrast microbubble) in patients with breast and ovarian lesions have been reported in 2017. Taking advantage of microbubble cavitation effect, ultrasound-assisted drug delivery technology also makes great progress. The clinical trial of blood-brain barrier disruption for chemotherapy delivery in the brain had been conducted and confirmed its safety and well toleration in patients with recurrent glioblastoma (GBM). Moreover, ultrasound provides an advantageous tool for image-guided therapy due to its capability of real-time imaging for deep tissues, contributing to greatly improved localization and targeting of diseased tissues. More interestingly, by imaging these drug-loaded contrast agents, ultrasound-mediated drug delivery can be visualized. All of the above examples help demonstrate the promising potential of ultrasound in precision medicine, not only for disease diagnosis, but also for treatment selection and prognosis evaluation. The present Research Topic here in Frontiers in Pharmacology aims to bring a collection of research describing ultrasound used for precision medicine in diagnosis, drug delivery and image-guided therapy.
Genomic and Precision Medicine: Translation and Implementation highlights the various points along the continuum from health to disease where genomic information is impacting clinical decision-making and leading to more personalization of health care. The book pinpoints the challenges, barriers, and solutions that have been, or are being, brought forward to enable translation of genome based technologies into health care. A variety of infrastructure (data systems and EMRs), policy (regulatory, reimbursement, privacy), and research (comparative effectiveness research, learning health system approaches) strategies are also discussed. Readers will find this volume to be an invaluable resource for the translational genomics and implementation science that is required to fully realize personalized health care. Provides a comprehensive volume on the translation and implementation of biology into health care provision Presents succinct commentary and key learning points that will assist readers with their local needs for translation and implementation Includes an up-to-date overview on major ‘translational events’ in genomic and personalized medicine, along with lessons learned
This book concisely describes the role of omics in precision medicine for cancer therapies. It outlines our current understanding of cancer genomics, shares insights into the process of oncogenesis, and discusses emerging technologies and clinical applications of cancer genomics in prognosis and precision-medicine treatment strategies. It then elaborates on recent advances concerning transcriptomics and translational genomics in cancer diagnosis, clinical applications, and personalized medicine in oncology. Importantly, it also explains the importance of high-performance analytics, predictive modeling, and system biology in cancer research. Lastly, the book discusses current and potential future applications of pharmacogenomics in clinical cancer therapy and cancer drug development.
Implementing Precision Medicine in Best Practices of Chronic Airway Diseases provides a comprehensive overview of the application of precision medicine in airway diseases with a goal of promoting optimal control of disease, higher patient satisfaction and disease prevention. As medical research continues to fund this area, the book highlights the need for implementation of the principles of precision medicine into the bedside management of chronic airway diseases. It is clear that chronic airway diseases are heterogeneous and that a personalized approach is warranted whereby treatment is tailored to the level of the individual patient. Written for basic researchers, medical doctors and other healthcare practitioners this book provides guidance on the implementation of the principles of precision medicine into further research and daily clinical practice. Bridges the gap between precision medicine research and the implementation of the principles into daily clinical practice Includes contributions from key opinion leaders in the field of airway disease giving a worldwide perspective Discusses precision medicine in terms of personalized and stratified medicine, biomarkers, prediction of success, participation of the patient and prevention of disease
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.