DNA-based Population Screening for Precision Public Health
Author : Laura V. Milko
Publisher : Frontiers Media SA
Page : 324 pages
File Size : 46,19 MB
Release : 2022-11-28
Category : Science
ISBN : 2832507344
Author : Laura V. Milko
Publisher : Frontiers Media SA
Page : 324 pages
File Size : 46,19 MB
Release : 2022-11-28
Category : Science
ISBN : 2832507344
Author : National Research Council
Publisher : National Academies Press
Page : 142 pages
File Size : 45,94 MB
Release : 2012-01-16
Category : Medical
ISBN : 0309222222
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.
Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
Page : 149 pages
File Size : 22,19 MB
Release : 2017-04-21
Category : Medical
ISBN : 0309453291
Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.
Author : Tarun Weeramanthri
Publisher : Frontiers Media SA
Page : 149 pages
File Size : 32,91 MB
Release : 2018-06-25
Category :
ISBN : 2889455017
Precision Public Health is a new and rapidly evolving field, that examines the application of new technologies to public health policy and practice. It draws on a broad range of disciplines including genomics, spatial data, data linkage, epidemiology, health informatics, big data, predictive analytics and communications. The hope is that these new technologies will strengthen preventive health, improve access to health care, and reach disadvantaged populations in all areas of the world. But what are the downsides and what are the risks, and how can we ensure the benefits flow to those population groups most in need, rather than simply to those individuals who can afford to pay? This is the first collection of theoretical frameworks, analyses of empirical data, and case studies to be assembled on this topic, published to stimulate debate and promote collaborative work.
Author : National Research Council
Publisher : National Academies Press
Page : 270 pages
File Size : 26,61 MB
Release : 1996-12-12
Category : Science
ISBN : 0309134404
In 1992 the National Research Council issued DNA Technology in Forensic Science, a book that documented the state of the art in this emerging field. Recently, this volume was brought to worldwide attention in the murder trial of celebrity O. J. Simpson. The Evaluation of Forensic DNA Evidence reports on developments in population genetics and statistics since the original volume was published. The committee comments on statements in the original book that proved controversial or that have been misapplied in the courts. This volume offers recommendations for handling DNA samples, performing calculations, and other aspects of using DNA as a forensic toolâ€"modifying some recommendations presented in the 1992 volume. The update addresses two major areas: Determination of DNA profiles. The committee considers how laboratory errors (particularly false matches) can arise, how errors might be reduced, and how to take into account the fact that the error rate can never be reduced to zero. Interpretation of a finding that the DNA profile of a suspect or victim matches the evidence DNA. The committee addresses controversies in population genetics, exploring the problems that arise from the mixture of groups and subgroups in the American population and how this substructure can be accounted for in calculating frequencies. This volume examines statistical issues in interpreting frequencies as probabilities, including adjustments when a suspect is found through a database search. The committee includes a detailed discussion of what its recommendations would mean in the courtroom, with numerous case citations. By resolving several remaining issues in the evaluation of this increasingly important area of forensic evidence, this technical update will be important to forensic scientists and population geneticistsâ€"and helpful to attorneys, judges, and others who need to understand DNA and the law. Anyone working in laboratories and in the courts or anyone studying this issue should own this book.
Author : Mukesh Verma
Publisher : Academic Press
Page : 346 pages
File Size : 26,17 MB
Release : 2016-12-22
Category : Science
ISBN : 0128095024
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
Author : Dhavendra Kumar
Publisher : Academic Press
Page : 360 pages
File Size : 12,23 MB
Release : 2016-06-04
Category : Science
ISBN : 0127999221
Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. - Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management - Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study - Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management - Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems
Author : Bruce R. Korf
Publisher : John Wiley & Sons
Page : 280 pages
File Size : 31,16 MB
Release : 2012-11-19
Category : Medical
ISBN : 1118537661
This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Author : Anjani Chandra
Publisher :
Page : 24 pages
File Size : 49,49 MB
Release : 2013
Category : Fertility, Human
ISBN :
Author : Wendy R. Uhlmann
Publisher : John Wiley & Sons
Page : 647 pages
File Size : 23,65 MB
Release : 2011-09-20
Category : Medical
ISBN : 1118210530
The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.