Despite what you may have read in the popular press and in social media, Precision Medicine is not devoted to finding unique treatments for individuals, based on analyzing their DNA. To the contrary, the goal of Precision Medicine is to find general treatments that are highly effective for large numbers of individuals who fall into precisely diagnosed groups. We now know that every disease develops over time, through a sequence of defined biological steps, and that these steps may differ among individuals, based on genetic and environmental conditions. We are currently developing rational therapies and preventive measures, based on our precise understanding of the steps leading to the clinical expression of diseases. Precision Medicine and the Reinvention of Human Disease explains the scientific breakthroughs that have changed the way that we understand diseases, and reveals how medical scientists are using this new knowledge to launch a medical revolution. Clarifies the foundational concepts of Precision Medicine, distinguishing this field from its predecessors such as genomics, pharmacogenetics, and personalized medicine Gathers the chief conceptual advances in the fields of genetics, pathology, and bioinformatics, and synthesizes a coherent narrative for the field of Precision Medicine Delivers its message in plain language, and in a relaxed, conversational writing style, making it easy to understand the complex subject matter Guides the reader through a coherent and logical narrative, gradually providing expertise and skills along the way Covers the importance of data sharing in Precision Medicine, and the many data-related challenges that confront this fragile new field

Evolution's Clinical Guidebook: Translating Ancient Genes into Precision Medicine demonstrates, through well-documented examples, how an understanding of the phylogenetic ancestry of humans allows us to make sense out of the flood of genetic data streaming from modern laboratories and how it can lead us to new ways to prevent, diagnose and treat diseases. Topics cover evolution and human genome, meiosis and other recombinants events, embryology, speciation, phylogeny, rare and common diseases, and the evolution of aging. This book is a valuable source for bioinformaticians and those in the biomedical field who need knowledge, down to gene level, to fully comprehend currently available data. Offers an innovative approach, focusing on how disease-associated pathways evolved Explains how the fields of phylogeny and embryology have become closely tied to the fields of genetics and bioinformatics Demonstrates how students and biomedical professionals can apply the knowledge obtained in this book to the theory and practice of precision medicine

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.

The book provides a multidisciplinary and interdisciplinary discussion of the ethos and ethics of precision / personal medicine, involving scientists who have shaped the field, in dialogue with ethicists, social scientists and philosophers of science.

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

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.