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Clinical Genomics

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Clinical Genomics

Clinical Genomics Book
Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Release : 2014-11-10
ISBN : 0124051731
Language : En, Es, Fr & De

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Book Description :

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

Genomics and Clinical Diagnostics

Genomics and Clinical Diagnostics Book
Author : David Whitehouse,Ralph Rapley
Publisher : Royal Society of Chemistry
Release : 2019-01-29
ISBN : 1782628215
Language : En, Es, Fr & De

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Book Description :

This book provides a timely, graduate level introduction to the fast-paced area of genomics and clinical diagnostic technologies and introduces the concept of applications based on this area.

Clinical Genomics Practical Applications for Adult Patient Care

Clinical Genomics  Practical Applications for Adult Patient Care Book
Author : Michael T. Murray, MD,Mark Babyatski, MD
Publisher : McGraw Hill Professional
Release : 2013-11-07
ISBN : 0071622446
Language : En, Es, Fr & De

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Book Description :

The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.

Educating Health Professionals in Genomic Medicine Evidence Based Strategies and Approaches

Educating Health Professionals in Genomic Medicine  Evidence Based Strategies and Approaches Book
Author : Sylvia Ann Metcalfe,Clara Gaff,Michael Dougherty
Publisher : Frontiers Media SA
Release : 2020-10-09
ISBN : 2889660591
Language : En, Es, Fr & De

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Book Description :

Download Educating Health Professionals in Genomic Medicine Evidence Based Strategies and Approaches book written by Sylvia Ann Metcalfe,Clara Gaff,Michael Dougherty, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genomics and Clinical Medicine

Genomics and Clinical Medicine Book
Author : Dhavendra Kumar,David Weatherall
Publisher : Oxford University Press
Release : 2008-02-15
ISBN : 0195188136
Language : En, Es, Fr & De

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Book Description :

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.

Textbook of Patient Safety and Clinical Risk Management

Textbook of Patient Safety and Clinical Risk Management Book
Author : Liam Donaldson,Walter Ricciardi,Susan Sheridan,Riccardo Tartaglia
Publisher : Springer Nature
Release : 2020-12-14
ISBN : 3030594033
Language : En, Es, Fr & De

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Book Description :

Implementing safety practices in healthcare saves lives and improves the quality of care: it is therefore vital to apply good clinical practices, such as the WHO surgical checklist, to adopt the most appropriate measures for the prevention of assistance-related risks, and to identify the potential ones using tools such as reporting & learning systems. The culture of safety in the care environment and of human factors influencing it should be developed from the beginning of medical studies and in the first years of professional practice, in order to have the maximum impact on clinicians' and nurses' behavior. Medical errors tend to vary with the level of proficiency and experience, and this must be taken into account in adverse events prevention. Human factors assume a decisive importance in resilient organizations, and an understanding of risk control and containment is fundamental for all medical and surgical specialties. This open access book offers recommendations and examples of how to improve patient safety by changing practices, introducing organizational and technological innovations, and creating effective, patient-centered, timely, efficient, and equitable care systems, in order to spread the quality and patient safety culture among the new generation of healthcare professionals, and is intended for residents and young professionals in different clinical specialties.

Clinical Genome Sequencing

Clinical Genome Sequencing Book
Author : Aad Tibben,Barbara B. Biesecker
Publisher : Academic Press
Release : 2019-03-30
ISBN : 0128133368
Language : En, Es, Fr & De

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Book Description :

Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine. Features contributions from leading international researchers and practitioners versed in the psychosocial dimensions of genomic medicine implementation Presents clinical case studies that support concept illustration, making this an invaluable reference for students, researchers, and clinicians looking for practical guidance in this important and multifaceted topic area Details the current state of genomic testing, expectations of genome sequencing, patient consent, patient responses to sequencing data, uncertainties in genome sequencing, direct-to-consumer genome sequencing, and more

Secondary Findings in Genomic Research

Secondary Findings in Genomic Research Book
Author : Anonim
Publisher : Academic Press
Release : 2020-02-29
ISBN : 0128167483
Language : En, Es, Fr & De

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Book Description :

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

Next Generation Information Technologies and Systems

Next Generation Information Technologies and Systems Book
Author : Yishai Feldman,Donald Kraft,Tsvi Kuflik
Publisher : Springer Science & Business Media
Release : 2009-09-29
ISBN : 3642049400
Language : En, Es, Fr & De

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Book Description :

This book constitutes the refereed post-conference proceedings of the 7th International Conference on Next Generation Information Technologies and Systems, NGITS 2009, held in Haifa, Israel, in June 2009. The 14 revised full papers presented together with two keynote lectures and one invited paper were carefully reviewed and selected from numerous submissions. The papers are organized in topical sections on middleware and integration, modeling, healthcare/biomedical, service and information management, and applications.

The Dictionary of Genomics Transcriptomics and Proteomics

The Dictionary of Genomics  Transcriptomics and Proteomics Book
Author : Guenter Kahl
Publisher : John Wiley & Sons
Release : 2015-05-21
ISBN : 3527678646
Language : En, Es, Fr & De

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Book Description :

Now in its fifth edition and for the first time available as an electronic product with all entries cross-linked. This very successful long-seller has once again been thoroughly updated and greatly expanded. It now contains over 13,000 entries, and comprehensively covering genomics, transcriptomics, and proteomics. Each entry contains an extensive explanation, including a comprehensive listing of synonyms and acronyms, and all formulas have been redrawn to create a uniform style, while most of the figures are custom designed for this dictionary. The ultimate reference for all terms in the -omics fields.

Systems for Research and Evaluation for Translating Genome Based Discoveries for Health

Systems for Research and Evaluation for Translating Genome Based Discoveries for Health Book
Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Release : 2009-11-10
ISBN : 9780309147415
Language : En, Es, Fr & De

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Book Description :

With the advent of genome-wide association studies, numerous associations between specific gene loci and complex diseases have been identified--for breast cancer, coronary artery disease, and asthma, for example. This rapidly advancing field of genomics has stirred great interest in "personalized" health care from both the public and private sectors. The hope is that using genomic information in clinical care will lead to reduced health care costs and improved health outcomes as therapies are tailored to the genetic susceptibilities of patients. A variety of genetically based health care innovations have already reached the marketplace, but information about the clinical use of these treatments and diagnostics is limited. Currently data do not provide information about how a genomic test impacts clinical care and patient health outcomes--other approaches are needed to garner such information. This volume summarizes a workshop to address central questions related to the development of systems to evaluate clinical use of health care innovations that stem from genome-based research: What are the practical realities of creating such systems? What different models could be used? What are the strengths and weaknesses of each model? How effectively can such systems address questions about health outcomes?

Integrating Large Scale Genomic Information into Clinical Practice

Integrating Large Scale Genomic Information into Clinical Practice Book
Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Release : 2012-03-06
ISBN : 0309220343
Language : En, Es, Fr & De

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Book Description :

The initial sequencing of the human genome, carried out by an international group of experts, took 13 years and $2.7 billion to complete. In the decade since that achievement, sequencing technology has evolved at such a rapid pace that today a consumer can have his or her entire genome sequenced by a single company in a matter of days for less than $10,000, though the addition of interpretation may extend this timeframe. Given the rapid technological advances, the potential effect on the lives of patients, and the increasing use of genomic information in clinical care, it is important to address how genomics data can be integrated into the clinical setting. Genetic tests are already used to assess the risk of breast and ovarian cancers, to diagnose recessive diseases such as cystic fibrosis, to determine drug dosages based on individual patient metabolism, and to identify therapeutic options for treating lung and breast tumors, melanoma, and leukemia. With these issues in mind and considering the potential impact that genomics information can have on the prevention, diagnosis, and treatment of disease, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop on July 19, 2011, to highlight and identify the challenges and opportunities in integrating large-scale genomic information into clinical practice. Integrating Large-Scale Genomic Information into Clinical Practice summarizes the speaker presentations and the discussions that followed them. This report focuses on several key topics, including the analysis, interpretation, and delivery of genomic information plus workforce, ethical, and legal issues.

Genetics and Genomics in Medicine

Genetics and Genomics in Medicine Book
Author : Tom Strachan,Judith Goodship,Patrick Chinnery
Publisher : Taylor & Francis
Release : 2014-06-02
ISBN : 1317594304
Language : En, Es, Fr & De

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Book Description :

Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti

Molecular Genetic Pathology

Molecular Genetic Pathology Book
Author : Liang Cheng,David Y. Zhang
Publisher : Springer Science & Business Media
Release : 2010-01-01
ISBN : 1597454052
Language : En, Es, Fr & De

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Book Description :

This volume presents a useful and up-to-date handbook containing information relevant to the clinical practice of molecular genetic pathology. It features organized, detailed text on specific molecular genetic techniques. The volume provides a unique reference for the practicing pathologist and medical geneticist, as well as a review book for residents and fellows in training in pathology, medical genetics and molecular genetic pathology.

Assessing Genomic Sequencing Information for Health Care Decision Making

Assessing Genomic Sequencing Information for Health Care Decision Making Book
Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Release : 2014-08-19
ISBN : 0309304970
Language : En, Es, Fr & De

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Book Description :

Rapid advances in technology have lowered the cost of sequencing an individual's genome from the several billion dollars that it cost a decade ago to just a few thousand dollars today and have correspondingly greatly expanded the use of genomic information in medicine. Because of the lack of evidence available for assessing variants, evaluation bodies have made only a few recommendations for the use of genetic tests in health care. For example, organizations, such as the Evaluation of Genomic Applications in Practice and Prevention working group, have sought to set standards for the kinds of evaluations needed to make population-level health decisions. However, due to insufficient evidence, it has been challenging to recommend the use of a genetic test. An additional challenge to using large-scale sequencing in the clinic is that it may uncover "secondary," or "incidental," findings - genetic variants that have been associated with a disease but that are not necessarily related to the conditions that led to the decision to use genomic testing. Furthermore, as more genetic variants are associated with diseases, new information becomes available about genomic tests performed previously, which raises issues about how and whether to return this information to physicians and patients and also about who is responsible for the information. To help develop a better understanding of how genomic information is used for healthcare decision making, the Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine held a workshop in Washington,DC in February 2014. Stakeholders, including clinicians, researchers, patients, and government officials, discussed the issues related to the use of genomic information in medical practice. Assessing Genomic Sequencing Information for Health Care Decision Making is the summary of that workshop. This report compares and contrasts evidence evaluation processes for different clinical indications and discusses key challenges in the evidence evaluation process.

Genomic and Precision Medicine

Genomic and Precision Medicine Book
Author : Geoffrey S. Ginsburg,Huntington F Willard
Publisher : Academic Press
Release : 2016-11-22
ISBN : 0128006560
Language : En, Es, Fr & De

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Book Description :

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

Cancer Genomics for the Clinician

Cancer Genomics for the Clinician Book
Author : Ramaswamy Govindan, MD,Ashiq Masood, MD
Publisher : Springer Publishing Company
Release : 2019-01-28
ISBN : 082616868X
Language : En, Es, Fr & De

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Book Description :

Cancer Genomics for the Clinician is a practical guide to cancer genomics and its application to cancer diagnosis and care. The book begins with a brief overview of the various types of genetic alterations that are encountered in cancer, followed by accessible and applicable information on next generation sequencing technology and bioinformatics; tumor heterogeneity; whole genome, exome, and transcriptome sequencing; epigenomics; and data analysis and interpretation. Each chapter provides essential explanations of concepts, terminology, and methods. Also included are tips for interpreting and analyzing molecular data, as well as a discussion of molecular predictors for targeted therapies covering hematologic malignancies and solid tumors. The final chapter explains the use of FDA-approved genomic-based targeted therapies for breast cancer, lung cancer, sarcomas, gastrointestinal cancers, urologic cancers, head and neck cancer, thyroid cancer, and many more. Assembled in an accessible format specifically designed for the non-expert, this book provides the clinical oncologist, early career practitioner, and trainee with an essential understanding of the molecular and genetic basis of cancer and the clinical aspects that have led to advancements in diagnosis and treatment. With this resource, physicians and trainees will increase their breadth of knowledge and be better equipped to educate patients and families who want to know more about their genetic predispositions to cancer and the targeted therapies that could be considered and prescribed. Key Features: Describes how cancer genomics and next generation sequencing informs cancer screening, risk factors, therapeutic options, and clinical management across cancer types Explains what mutations are, what tests are needed, and how to interpret the results Provides information on FDA-approved targeted therapies that are being used in the clinic Covers different sequencing platforms and technologies and how they perform in research settings Includes access to the fully searchable eBook

Translating Molecular Biomarkers into Clinical Assays

Translating Molecular Biomarkers into Clinical Assays Book
Author : Russell Weiner,Marian Kelley
Publisher : Springer
Release : 2016-08-22
ISBN : 3319407937
Language : En, Es, Fr & De

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Book Description :

This handbook covers established and advanced techniques for biomarker analysis, such as guidelines and strategies for assay validation methods; different mathematical models that are necessary in contemporary drug discovery and development; and evaluation of new cytometry methods. Expertly curated by two practicing professionals in drug development and biotherapeutics, individual chapters are selected for novel and sound research; information is chosen based on its relevance to lab applications and clinical trials, such as the topic of selecting animal models for their relevancy to humans. The book is multifaceted, discussing the ethics and issues with biospecimens and providing an in-depth analysis to the differences between pre-clinical and clinical assay development. The book is an essential read for general readers who need an introduction to the history and background of biomarkers, and it also provides critical analyses of various new validation methods for practitioners and researchers.

Genomics Driven Healthcare

Genomics Driven Healthcare Book
Author : Yashwant Pathak
Publisher : Springer
Release : 2018-07-02
ISBN : 9811075069
Language : En, Es, Fr & De

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Book Description :

This book evaluates trends arising in “-Omics” sciences in terms of their current and potential future application to therapeutic design and understanding of disease. Chapters consider the impact of pharmacogenomics and bioinformatics on drug development, as well as trends in genomics, as applied to understanding of neurodegenerative and lung disease, psychiatry and oncology. Following the genome studies released in early part of this century, the advent of the -Omics sciences (genomics and pharmacogenomics, proteomics, metabolomics, transcriptomics) has seen the expansion of a vast knowledgebase with utility in preventing and treating disease, and improving health for all. Bioinformatics and improved pharmacogenetic understanding forge a path for improved drug discovery and design methods accounting for differences in delivery and disposition across populations.

Medical and Health Genomics

Medical and Health Genomics Book
Author : Dhavendra Kumar,Stylianos Antonarakis
Publisher : Academic Press
Release : 2016-06-04
ISBN : 0127999221
Language : En, Es, Fr & De

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Book Description :

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