Enabling Precision Medicine

Those involved in the drug development process face challenges of efficiency and overall sustainability due in part to high research costs, lengthy development timelines, and late-stage drug failures. Novel clinical trial designs that enroll participants based on their genetics represent a potentially disruptive change that could improve patient outcomes, reduce costs associated with drug development, and further realize the goals of precision medicine. On March 8, 2017, the Forum on Drug Discovery, Development, and Translation and the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine hosted the workshop Enabling Precision Medicine: The Role of Genetics in Clinical Drug Development. Participants examined successes, challenges, and possible best practices for effectively using genetic information in the design and implementation of clinical trials to support the development of precision medicines, including exploring the potential advantages and disadvantages of such trials across a variety of disease areas. 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

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 issue of Clinics in Laboratory Medicine will cover Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies. Curated by Dr. Ryan J. Schmidt, this issue is one of four selected each year by the series Consulting Editor, Milenko Tanasijevic. The volume will include articles on: Features of a Comprehensive Precision Medicine Program for Constitutional Genetic Disorders, Establishing a Precision Medicine Center of Excellence for Rare Disease, High-throughput DNA Sequencing for Rare Disease Diagnosis, Enhancing Diagnosis through RNA Sequencing, Interpretation of Rare Genetic Variants, Clinical Bioinformatics, Precision Therapies for Retinal Dystrophy, Precision Therapies for Muscular Dystrophy, Therapeutic Gene Editing, High Throughput Functional Studies of Genetic Variants, and Patient-specific Disease Models.

Genomic and Precision Medicine: Oncology, Third Edition focuses on the applications of genome discovery as research points to personalized cancer therapies. Each chapter is organized to cover the application of genomics and personalized medicine tools and technologies to a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field. Provides a comprehensive volume written and edited by oncology genomic specialists for oncology health providers Includes succinct commentary and key learning points that will assist providers with their local needs for implementation of genomic and personalized medicine into practice Presents an up-to-date overview on major opportunities for genomic and personalized medicine in practice Covers case studies that highlight the practical use of genomics in the management of patients

Precision Medicine and Artificial Intelligence: The Perfect Fit for Autoimmunity covers background on artificial intelligence (AI), its link to precision medicine (PM), and examples of AI in healthcare, especially autoimmunity. The book highlights future perspectives and potential directions as AI has gained significant attention during the past decade. Autoimmune diseases are complex and heterogeneous conditions, but exciting new developments and implementation tactics surrounding automated systems have enabled the generation of large datasets, making autoimmunity an ideal target for AI and precision medicine. More and more diagnostic products utilize AI, which is also starting to be supported by regulatory agencies such as the Food and Drug Administration (FDA). Knowledge generation by leveraging large datasets including demographic, environmental, clinical and biomarker data has the potential to not only impact the diagnosis of patients, but also disease prediction, prognosis and treatment options. Allows the readers to gain an overview on precision medicine for autoimmune diseases leveraging AI solutions Provides background, milestone and examples of precision medicine Outlines the paradigm shift towards precision medicine driven by value-based systems Discusses future applications of precision medicine research using AI Other aspects covered in the book include regulatory insights, data analytics and visualization, types of biomarkers as well as the role of the patient in precision medicine

Precision Medicine: Tools and Quantitative Approaches discusses precision and personalized medicine, two relevant topics that are revolutionizing diagnostics and treatment, while also providing a shift toward prevention. The book covers the most relevant features and explanations underlying developments in the field. A timely review on prerequisites, causes and consequences is given. Unique to this book is a combined view on technical and data analysis aspects that is mandatory for obtaining and interpreting results. This book is a valuable source for researchers in medical and life sciences, physicians and students with an interest in this emerging field of precision medicine. Provides technological aspects in precision medicine with aspects of modern statistical and bioinformatics models and methods Brings timely reviews on status and chances in precision medicine and associated aspects of data analysis, statistics and data interpretation Encompasses easy access to relevant approaches, interactions and original literature

This book presents the latest advances in precision medicine in some of the most common cancer types, including hematological, lung and breast malignancies. It also discusses emerging technologies that are making a significant impact on precision medicine in cancer therapy. In addition to describing specific approaches that have already entered clinical practice, the book explores new concepts and tools that are being developed. Precision medicine aims to deliver personalized healthcare tailored to a patient’s genetics, lifestyle and environment, and cancer therapy is one of the areas in which it has flourished in recent years. Documenting the latest advances, this book is of interest to physicians and clinical fellows in the front line of the war on cancer, as well as to basic scientists working in the fields of cancer biology, drug development, biomarker discovery, and biomedical engineering. The contributing authors include translational physicians with first-hand experience in precision patient care.