Translational Research In Genetics And Genomics

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Translational Research in Genetics and Genomics

Author : Moyra Smith M.D.
Publisher : Oxford University Press
ISBN 13 : 0190295317
Total Pages : 232 pages
Book Rating : 4.1/5 (92 download)

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Book Synopsis Translational Research in Genetics and Genomics by : Moyra Smith M.D.

Download or read book Translational Research in Genetics and Genomics written by Moyra Smith M.D. and published by Oxford University Press. This book was released on 2008-04-02 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this new book, noted geneticist and veteran OUP author, Moyra Smith, present a comprehensive critical review of the translation of genetic and genomic research into health care. Dr. Smith's motivation for writing is driven by the gap that exists between the rather amazing discoveries in medical genetics and genomics at basic science levels and the translation to disease management in single gene disorders, specific genetic syndromes, and complex genetic diseases. She also examines information technology in genetic medicine, sociocultural factors that impact provision of medical care, and medical education issues with regard to translational genetics in order to help prepare a work force that is better able to utilize evidence-based medicine and to accomodate the rapid changes in genetic and genomic health care.

Clinical and Translational Science

Author : David Robertson
Publisher : Academic Press
ISBN 13 : 012802111X
Total Pages : 812 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Clinical and Translational Science by : David Robertson

Download or read book Clinical and Translational Science written by David Robertson and published by Academic Press. This book was released on 2016-11-25 with total page 812 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical and Translational Science: Principles of Human Research, Second Edition, is the most authoritative and timely resource for the broad range of investigators taking on the challenge of clinical and translational science, a field that is devoted to investigating human health and disease, interventions, and outcomes for the purposes of developing new treatment approaches, devices, and modalities to improve health. This updated second edition has been prepared with an international perspective, beginning with fundamental principles, experimental design, epidemiology, traditional and new biostatistical approaches, and investigative tools. It presents complete instruction and guidance from fundamental principles, approaches, and infrastructure, especially for human genetics and genomics, human pharmacology, research in special populations, the societal context of human research, and the future of human research. The book moves on to discuss legal, social, and ethical issues, and concludes with a discussion of future prospects, providing readers with a comprehensive view of this rapidly developing area of science. Introduces novel physiological and therapeutic strategies for engaging the fastest growing scientific field in both the private sector and academic medicine Brings insights from international leaders into the discipline of clinical and translational science Addresses drug discovery, drug repurposing and development, innovative and improved approaches to go/no-go decisions in drug development, and traditional and innovative clinical trial designs

Diffusion and Use of Genomic Innovations in Health and Medicine

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309116767
Total Pages : 116 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Diffusion and Use of Genomic Innovations in Health and Medicine by : Institute of Medicine

Download or read book Diffusion and Use of Genomic Innovations in Health and Medicine written by Institute of Medicine and published by National Academies Press. This book was released on 2008-07-18 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt: Until fairly recently, genetic information was used primarily in the diagnosis of relatively rare genetic diseases, such as cystic fibrosis and Huntington's Disease, but a transformation in the use of genetic and genomic information is underway. While many predictions have been made that genomics will transform medicine, to date few of these promising discoveries have resulted in actual applications in medicine and health. The Institute of Medicine's Roundtable on Translating Genomic-Based Research for Health, established in 2007, held its first workshop to address the following questions: 1. Are there different pathways by which new scientific findings move from the research setting into health care? 2. If so, what are the implications of those different pathways for genomics? 3. What can we learn from the translation of other new technologies as we seek to understand the translation of genome science into health care? Information obtained from the workshop was then used to further discussion and exploration of the answers to these questions. This book summarizes speaker presentations and discussions. Any conclusions reported should not be construed as reflecting a group consensus; rather they are the statements and opinions of presenters and participants.

Translational Cardiometabolic Genomic Medicine

Author : Annabelle Rodriguez-Oquendo
Publisher : Academic Press
ISBN 13 : 0128004746
Total Pages : 354 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Translational Cardiometabolic Genomic Medicine by : Annabelle Rodriguez-Oquendo

Download or read book Translational Cardiometabolic Genomic Medicine written by Annabelle Rodriguez-Oquendo and published by Academic Press. This book was released on 2015-09-07 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: Translational Cardiometabolic Genomic Medicine, edited by Dr. Annabelle Rodriguez-Oquendo, is an important resource to postgraduate (medical, dental and graduate) students, postdoctoral fellows, basic scientists, and physician scientists seeking to understand and expand their knowledge base in the field of genomic medicine as it is applied to cardiometabolic diseases. This handbook integrates cutting-edge experimental approaches such as chromatin immunoprecipitation paired end tagging (CHIA-PET), to population studies such as the Multi-Ethnic Study of Atherosclerosis. It encompasses a range of book chapters that highlight bioinformatic approaches to better understanding functionality of the noncoding regions of the human genome to the use of molecular diagnostic testing in predicting increased risk of cardiovascular diseases. Where applicable, this reference also includes chapters related to therapeutic options specifically aligned to molecular targets. Provides comprehensive research on translational genomic medicine Explains state-of-the-art genome editing for stem cells and mouse models with significant relevance to human cardiometabolic disease Includes discussions on the functional effects of single nucleotide polymorphisms and cardiometabolic diseases, stratified by sex and race Encompasses a range of book chapters that highlight bioinformatic approaches to better understanding functionality of the noncoding regions of the human genome

Achieving Justice in Genomic Translation

Author : Wylie Burke MD, PhD
Publisher : Oxford University Press
ISBN 13 : 0199909741
Total Pages : 223 pages
Book Rating : 4.1/5 (999 download)

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Book Synopsis Achieving Justice in Genomic Translation by : Wylie Burke MD, PhD

Download or read book Achieving Justice in Genomic Translation written by Wylie Burke MD, PhD and published by Oxford University Press. This book was released on 2011-09-15 with total page 223 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book explores implicit choices made by researchers, policy makers, and funders regarding who benefits from society's investment in health research. The authors focus specifically on genetic research and examine whether such research tends to reduce or exacerbate existing health disparities. Using case examples to illustrate the issues, the authors trace the path of genetics research from discovery, through development and delivery, to health outcomes. Topics include breast cancer screening and treatment, autism research, pharmacogenetics, prenatal testing, newborn screening, and youth suicide prevention. Each chapter emphasizes the societal context of genetic research and illustrates how science might change if attention were paid to the needs of marginalized populations. Written by experts in genetics, health, and philosophy, this book argues that the scientific enterprise has a responsibility to respond to community needs to assure that research innovations achieve much needed health impacts.

Genomic and Precision Medicine

Author : Geoffrey S. Ginsburg
Publisher : Academic Press
ISBN 13 : 0128006536
Total Pages : 379 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Genomic and Precision Medicine by : Geoffrey S. Ginsburg

Download or read book Genomic and Precision Medicine written by Geoffrey S. Ginsburg and published by Academic Press. This book was released on 2022-04-09 with total page 379 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

The Foundation of Precision Medicine: Integration of Electronic Health Records with Genomics Through Basic, Clinical, and Translational Research

Download The Foundation of Precision Medicine: Integration of Electronic Health Records with Genomics Through Basic, Clinical, and Translational Research PDF Online Free

Author : Mariza de Andrade
Publisher : Frontiers Media SA
ISBN 13 : 2889198723
Total Pages : 196 pages
Book Rating : 4.8/5 (891 download)

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Book Synopsis The Foundation of Precision Medicine: Integration of Electronic Health Records with Genomics Through Basic, Clinical, and Translational Research by : Mariza de Andrade

Download or read book The Foundation of Precision Medicine: Integration of Electronic Health Records with Genomics Through Basic, Clinical, and Translational Research written by Mariza de Andrade and published by Frontiers Media SA. This book was released on 2016-06-30 with total page 196 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Translational Research and Onco-Omics Applications in the Era of Cancer Personal Genomics

Author : Erika Ruiz-Garcia
Publisher : Springer Nature
ISBN 13 : 3030241009
Total Pages : 171 pages
Book Rating : 4.0/5 (32 download)

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Book Synopsis Translational Research and Onco-Omics Applications in the Era of Cancer Personal Genomics by : Erika Ruiz-Garcia

Download or read book Translational Research and Onco-Omics Applications in the Era of Cancer Personal Genomics written by Erika Ruiz-Garcia and published by Springer Nature. This book was released on 2019-11-11 with total page 171 pages. Available in PDF, EPUB and Kindle. Book excerpt: Being a complex disease that affects millions of people world over, cancer research has assumed great significance. Translational cancer research transforms scientific discoveries in the laboratory into clinical application to reduce incidence of cancer, morbidity and mortality. On the other hand, personalized medicine in cancer is the concept that selection of a treatment should be tailored according to the individual patient’s specific genomic characteristics, including mutations, chromosomal aberrations, protein interactions, and SNPs, and even more, taking into account the inmume system, the metabolism and maybe in the next future also the microbiome.

Medical and Health Genomics

Author : Dhavendra Kumar
Publisher : Academic Press
ISBN 13 : 0127999221
Total Pages : 358 pages
Book Rating : 4.1/5 (279 download)

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Book Synopsis Medical and Health Genomics by : Dhavendra Kumar

Download or read book Medical and Health Genomics written by Dhavendra Kumar and published by Academic Press. This book was released on 2016-06-04 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research

Download The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research PDF Online Free

Author :
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (136 download)

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Book Synopsis The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research by :

Download or read book The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research written by and published by . This book was released on 2016 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Genome-Based Therapeutics

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309260248
Total Pages : 89 pages
Book Rating : 4.3/5 (92 download)

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Book Synopsis Genome-Based Therapeutics by : Institute of Medicine

Download or read book Genome-Based Therapeutics written by Institute of Medicine and published by National Academies Press. This book was released on 2012-12-21 with total page 89 pages. Available in PDF, EPUB and Kindle. Book excerpt: The number of new drug approvals has remained reasonably steady for the past 50 years at around 20 to 30 per year, while at the same time the total spending on health-related research and development has tripled since 1990. There are many suspected causes for this trend, including increases in regulatory barriers, the rising costs of scientific inquiry, a decrease in research and development efficiency, the downstream effects of patient expirations on investment, and the lack of production models that have successfully incorporated new technology. Regardless, this trajectory is not economically sustainable for the businesses involved, and, in response, many companies are turning toward collaborative models of drug development, whether with other industrial firms, academia, or government. Introducing greater efficiency and knowledge into these new models and aligning incentives among participants may help to reverse the trends highlighted above, while producing more effective drugs in the process. Genome-Based Therapeutics explains that new technologies have the potential to open up avenues of development and to identify new drug targets to pursue. Specifically, improved validation of gene-disease associations through genomics research has the potential to revolutionize drug production and lower development costs. Genetic information has helped developers by increasing their understanding of the mechanisms of disease as well as individual patients' reactions to their medications. There is a need to identify the success factors for the various models that are being developed, whether they are industry-led, academia-led, or collaborations between the two. Genome-Based Therapeutics summarizes a workshop that was held on March 21, 2012, titled New Paradigms in Drug Discovery: How Genomic Data Are Being Used to Revolutionize the Drug Discovery and Development Process. At this workshop the goal was to examine the general approaches being used to apply successes achieved so far, and the challenges ahead.

Genomics of Rare Diseases

Author : Claudia Gonzaga-Jauregui
Publisher : Academic Press
ISBN 13 : 0128204362
Total Pages : 316 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Genomics of Rare Diseases by : Claudia Gonzaga-Jauregui

Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians

Economic Evaluation in Genomic Medicine

Author : Vasilios Fragoulakis
Publisher : Academic Press
ISBN 13 : 0128016116
Total Pages : 174 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Economic Evaluation in Genomic Medicine by : Vasilios Fragoulakis

Download or read book Economic Evaluation in Genomic Medicine written by Vasilios Fragoulakis and published by Academic Press. This book was released on 2015-03-20 with total page 174 pages. Available in PDF, EPUB and Kindle. Book excerpt: Economic Evaluation in Genomic Medicine introduces health economics and economic evaluation to genomic clinicians and researchers, while also introducing the topic to health economists. Each chapter includes an executive summary, questions, and case studies, along with supplementary online materials, including process guides, maps, flow charts, diagrams, and economic evaluation spreadsheets to enhance the learning process. The text can easily be used as course material for related graduate and undergraduate courses, providing a succinct overview of the existing, state-of-the-art application of economic evaluation to genomic healthcare and precision medicine. Interrelates economic evaluation and genomic medicine Instructs healthcare professionals and bioscientists about economic evaluation in genomic medicine Teaches health economists about application of economic evaluation in genomic medicine Introduces health economics and economic evaluation to clinicians and researchers involved in genomics Includes process guides, maps, flow charts and diagrams

Genomics and Clinical Medicine

Author : Dhavendra Kumar
Publisher : Oxford University Press
ISBN 13 : 9780199720057
Total Pages : 672 pages
Book Rating : 4.7/5 (2 download)

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Book Synopsis Genomics and Clinical Medicine by : Dhavendra Kumar

Download or read book Genomics and Clinical Medicine written by Dhavendra Kumar and published by Oxford University Press. This book was released on 2008-02-15 with total page 672 pages. Available in PDF, EPUB and Kindle. Book excerpt: An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.

Cost-Effectiveness in Health and Medicine

Author : Peter J. Neumann
Publisher : Oxford University Press
ISBN 13 : 0190492937
Total Pages : 537 pages
Book Rating : 4.1/5 (94 download)

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Book Synopsis Cost-Effectiveness in Health and Medicine by : Peter J. Neumann

Download or read book Cost-Effectiveness in Health and Medicine written by Peter J. Neumann and published by Oxford University Press. This book was released on 2016-10-17 with total page 537 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by: Cost-effectiveness in health and medicine / edited by Marthe R. Gold ... [et al.]. New York: Oxford University Press, 1996.

Translational Bioinformatics and Its Application

Author : Dong-Qing Wei
Publisher : Springer
ISBN 13 : 9402410457
Total Pages : 437 pages
Book Rating : 4.4/5 (24 download)

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Book Synopsis Translational Bioinformatics and Its Application by : Dong-Qing Wei

Download or read book Translational Bioinformatics and Its Application written by Dong-Qing Wei and published by Springer. This book was released on 2017-03-31 with total page 437 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book offers a detailed overview of translational bioinformatics together with real-case applications. Translational bioinformatics integrates the areas of basic bioinformatics, clinical informatics, statistical genetics and informatics in order to further our understanding of the molecular basis of diseases. By analyzing voluminous amounts of molecular and clinical data, it also provides clinical information, which can then be applied. Filling the gap between clinic research and informatics, the book is a valuable resource for human geneticists, clinicians, health educators and policy makers, as well as graduate students majoring in biology, biostatistics, and bioinformatics.

Secondary Findings in Genomic Research

Author :
Publisher : Academic Press
ISBN 13 : 0128167483
Total Pages : 246 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Secondary Findings in Genomic Research by :

Download or read book Secondary Findings in Genomic Research written by and published by Academic Press. This book was released on 2020-02-29 with total page 246 pages. Available in PDF, EPUB and Kindle. Book excerpt: Secondary Findings in Genomic Research offers a single, highly accessible resource on interpreting, managing and disclosing secondary findings in genomic research. With chapters written by experts in the field, this book is the first to concisely explain the ethical and practical issues raised by secondary genomics findings for a multi and interdisciplinary audience of genomic researchers, translational scientists, clinicians, medical students, genetic counselors, ethicists, legal experts and law students, public policy specialists and regulators. Contributors from Europe, North America, and Asia effectively synthesize perspectives from a spectrum of different scientific, societal, and global contexts, and offer pragmatic approaches to a range of topics, including oversight, governance and policy surrounding secondary genomic results, criteria for identifying results for return, communication and consent, stakeholders’ attitudes and perspectives, disclosing results, and clinical, patient-centered protocols. Thoroughly addresses the scientific, ethical, practical and clinical issues raised by secondary findings resulting from genomic research, including active debate and challenges in the field Provides researchers, clinicians, regulators, and stakeholders with a holistic, interdisciplinary approach to interpreting, managing and disclosing secondary findings Brings together expert analysis from scholars across Europe, North America, and Asia representing a wide variety of scientific and societal contexts