Genome Based Diagnostics

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Genome-Based Diagnostics

Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Genome Based Diagnostics Book PDF

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 104 pages
File Size : 55,6 Mb
Release : 2012-07-27
Category : Medical
ISBN : 9780309253949

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Genome-Based Diagnostics by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

The sequencing of the human genome and the identification of associations between specific genetic variants and diseases have led to an explosion of genomic-based diagnostic tests. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease. As research progresses and an increasing number of associations are found, further tests will be developed that can aid in providing personalized treatment options for patients. However, the adoption of genomic diagnostic tests by health care providers has been limited due to a lack of evidence regarding the clinical utility of many tests. Health funders and practitioners lack the data necessary to distinguish which tests can improve practice or the clinical settings in which tests will provide the greatest value. The Roundtable on Translating Genomic-Based Research for Health held a workshop in November 2010 to determine what evidence is needed and how it is viewed by different stakeholders in order to develop genomic diagnostic tests of clinical value. Genome-Based Diagnostics summarizes the presentations and discussions that took place throughout the workshop. Two presentations, in particular, sparked extensive discussion. One presentation proposed that all genomic diagnostic tests be reviewed and approved by the Food and Drug Administration. The other observed that venture capitalists are no longer investing substantially in the development of genomic diagnostic tests because of a lack of clarity surrounding regulatory and reimbursement pathways. Both presentations suggested the need for major changes in the systems used to develop, regulate, and reimburse genomic diagnostic tests. The report also presents the perspectives of different stakeholders in the development of genomic diagnostic tests. Each stakeholder group has a different set of needs and issues of importance, yet commonalities among them are apparent, such as the need to put patients and health outcomes at the center of discussion and action.

Genome-Based Diagnostics

Roundtable on Translating Genomic-Based Research for Health,Board on Health Sciences Policy,Institute of Medicine,Center for Medical Technology Policy
Genome Based Diagnostics Book PDF

Author : Roundtable on Translating Genomic-Based Research for Health,Board on Health Sciences Policy,Institute of Medicine,Center for Medical Technology Policy
Publisher : National Academies Press
Page : 0 pages
File Size : 46,5 Mb
Release : 2014-01-10
Category : Medical
ISBN : 0309269598

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Genome-Based Diagnostics by Roundtable on Translating Genomic-Based Research for Health,Board on Health Sciences Policy,Institute of Medicine,Center for Medical Technology Policy Pdf

Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology is the summary of a workshop convened in May 2012 by the Roundtable on Translating Genomic-Based Research for Health and the Center for Medical Technology Policy of the Institute of Medicine to foster the identified need for further sustained dialogue between stakeholders regarding the clinical utility of molecular diagnostics. The workshop brought together a wide range of stakeholders, including patients, health care providers, policy makers, payers, diagnostic test developers, researchers, and guideline developers, to identify the challenges and opportunities in advancing the development and use of molecular diagnostic tests designed to guide the treatment and management of patients with cancer. The sequencing of the human genome has greatly accelerated the process of linking specific genetic variants with disease. These findings have yielded a rapidly increasing number of molecular diagnostic tests designed to guide disease treatment and management. Many of these tests are aimed at determining the best treatments for specific forms of cancer, making oncology a valuable testing ground for the use of molecular diagnostic tests in medicine in general. Nevertheless, many questions surround the clinical value of molecular diagnostic tests, and their acceptance by clinicians, payers, and patients has been unpredictable. A major limiting factor for the use of these tests has been the lack of clear evidence of clinical utility. Genome-Based Diagnostics assesses the evidentiary requirements for clinical utility of molecular diagnostics used to guide treatment decisions for patients with cancer; discusses methodologies related to demonstrating these evidentiary requirements that meet the needs of all stakeholders; and considers innovative, sustainable research collaborations for generating evidence of clinical utility involving multiple stakeholders.

Refining Processes for the Co-Development of Genome-Based Therapeutics and Companion Diagnostic Tests

Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Refining Processes for the Co Development of Genome Based Therapeutics and Companion Diagnostic Tests Book PDF

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 102 pages
File Size : 46,9 Mb
Release : 2014-03-06
Category : Medical
ISBN : 9780309298247

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Refining Processes for the Co-Development of Genome-Based Therapeutics and Companion Diagnostic Tests by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

Many drug developers have examined new strategies for creating efficiencies in their development processes, including the adoption of genomics-based approaches. Genomic data can identify new drug targets for both common and rare diseases, can predict which patients are likely to respond to a specific treatment, and has the potential to significantly reduce the cost of clinical trials by reducing the number of patients that must be enrolled in order to demonstrate safety and efficacy. A key component of the approval of targeted therapeutics is the ability to identify the population of patients who will benefit from treatment, and this has largely hinged on the co-development and co-submission to the FDA of a companion diagnostic test.The co-development process, or the development of the test and drug for the simultaneous submission to FDA, has led to a major alteration in the way that drugs are being developed, with traditionally separate entities-pharmaceutical and diagnostic companies-now working in close collaboration. Refining Processes for the Co-Development of Genome-Based Therapeutics and Companion Diagnostic Tests is the summary of a workshop held by the Roundtable on Translating Genomic-Based Research for Health on February 27, 2013 to examine and discuss challenges and potential solutions for the codevelopment of targeted therapeutics and companion molecular tests for the prediction of drug response. Prior to the workshop, key stakeholders, including laboratory and medical professional societies, were individually asked to provide possible solutions to resolve the concerns raised about co-development of companion diagnostic tests and therapies. Workshop speakers were charged with addressing these solutions in their presentations by providing insight on (1) whether the proposed solutions address the problems described, (2) whether there are other solutions to propose, and (3) what steps could be taken to effectively implement the proposed solutions.

Genomics and Clinical Diagnostics

David Whitehouse,Ralph Rapley
Genomics and Clinical Diagnostics Book PDF

Author : David Whitehouse,Ralph Rapley
Publisher : Royal Society of Chemistry
Page : 594 pages
File Size : 43,7 Mb
Release : 2019-01-29
Category : Science
ISBN : 9781788016803

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Genomics and Clinical Diagnostics by David Whitehouse,Ralph Rapley Pdf

Genomics and genome technology is having, and continues to have, a major impact on all areas of bioscience research providing insights into the key area of molecular mechanisms of cells in health and disease. This is causing a profound effect on biomedical science and is accelerating the development of new diagnostic applications. 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. The initial chapters focus on principal molecular technologies that underpin the information in the later chapters. In addition to introductory areas of nucleic acids and techniques in molecular biology, bioinformatics and proteomics, other key diagnostic areas such as the use of immunological reagents are covered. The later chapters provide more specialised examples of currently used diagnostic technologies and insights into selected key diagnostic challenges including specific examples of molecular microbial diagnostics and molecular biomarkers in oncology. The running themes through the chapters provides an insight into current and future perspectives in this rapidly evolving field.

Next Generation Sequencing Based Diagnostic Approaches in Clinical Oncology

Anton A. Buzdin,Ira Ida Skvortsova,Xinmin Li,Ye Wang
Next Generation Sequencing Based Diagnostic Approaches in Clinical Oncology Book PDF

Author : Anton A. Buzdin,Ira Ida Skvortsova,Xinmin Li,Ye Wang
Publisher : Frontiers Media SA
Page : 180 pages
File Size : 48,9 Mb
Release : 2021-03-09
Category : Science
ISBN : 9782889665754

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Next Generation Sequencing Based Diagnostic Approaches in Clinical Oncology by Anton A. Buzdin,Ira Ida Skvortsova,Xinmin Li,Ye Wang Pdf

Dr. Anton Buzdin (AB) is employed by Omicsway Corp. (USA). AB received grants from Amazon and Microsoft Azure to support cloud computations. Dr. Xinmin Li is director of JCCC Shared Genomics Resource, the University of California, Los Angeles, CA Dr. Ye Wang is Director of Gene testing Department (Core Lab) of Qingdao Central Hospital, the Second Affiliated Hospital of Qingdao University

Diagnostic Genetic Testing

David Bourn
Diagnostic Genetic Testing Book PDF

Author : David Bourn
Publisher : Springer Nature
Page : 145 pages
File Size : 47,9 Mb
Release : 2021-11-13
Category : Medical
ISBN : 9783030855109

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Diagnostic Genetic Testing by David Bourn Pdf

Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences. The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients. The book is written for everyone interested to learn about the process of genetic testing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals in health policy or health journalism.

RNA and DNA Diagnostics

Volker A. Erdmann,Stefan Jurga,Jan Barciszewski
RNA and DNA Diagnostics Book PDF

Author : Volker A. Erdmann,Stefan Jurga,Jan Barciszewski
Publisher : Springer
Page : 349 pages
File Size : 45,5 Mb
Release : 2015-06-10
Category : Medical
ISBN : 9783319173054

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RNA and DNA Diagnostics by Volker A. Erdmann,Stefan Jurga,Jan Barciszewski Pdf

The aim of molecular diagnostics is preferentially to detect a developing disease before any symptoms appear. There has been a significant increase, fueled by technologies from the human genome project, in the availability of nucleic acid sequence information for all living organisms including bacteria and viruses. When combined with a different type of instrumentation applied, the resulting diagnostics is specific and sensitive. Nucleic acid-based medical diagnosis detects specific DNAs or RNAs from the infecting organism or virus and a specific gene or the expression of a gene associated with a disease. Nucleic acid approaches also stimulate a basic science by opening lines of inquiry that will lead to greater understanding of the molecules at the center of life. One can follow Richard Feynman’s famous statement “What I cannot create, I do not understand.”

Molecular Diagnostics

George P. Patrinos,Wilhelm Ansorge,Phillip B. Danielson
Molecular Diagnostics Book PDF

Author : George P. Patrinos,Wilhelm Ansorge,Phillip B. Danielson
Publisher : Academic Press
Page : 520 pages
File Size : 55,5 Mb
Release : 2016-10-27
Category : Medical
ISBN : 9780128029886

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Molecular Diagnostics by George P. Patrinos,Wilhelm Ansorge,Phillip B. Danielson Pdf

Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter. Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies. All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor. The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management. Presents a comprehensive account of all new technologies and applications used in clinical diagnostic laboratories Explores a wide range of molecular-based tests that are available to assess DNA variation and changes in gene expression Offers clear translational presentations by the top molecular pathologists, clinical chemists, and molecular geneticists in the field

Molecular Diagnostics

George P. Patrinos,George Patrinos,Wilhelm Ansorge
Molecular Diagnostics Book PDF

Author : George P. Patrinos,George Patrinos,Wilhelm Ansorge
Publisher : Academic Press
Page : 616 pages
File Size : 44,6 Mb
Release : 2009-08-21
Category : Science
ISBN : 0080923186

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Molecular Diagnostics by George P. Patrinos,George Patrinos,Wilhelm Ansorge Pdf

The 2e of Molecular Diagnostics, the only book dealing with diagnosis on a molecular level, discusses current molecular biological techniques used to identify the underlying molecular defects in inherited disease. The book delves further into the principle and brief description of the technique, followed by examples from the authors' own expertise. Contributors to the 2e are well-known experts in their field, and derive from a variety of disciplines, to ensure breadth and depth of coverage. Molecular Diagnostics, 2e , is a needed resource for graduate students, researchers, physicians and practicing scientists in molecular genetics and professionals from similar backgrounds working in diagnostic laboratories in academia or industry, as well as academic institutions and hospital libraries. Deals exclusively with the currently used molecular biology techniques to identify the underlying molecular defect of inherited diseases Includes pharmacogenetics and pharmacogenomics relating to new cancer therapies Provies a comprehensive guide through emerging concepts and demonstrates how the available mutation screening technology can be implemented in diagnostic laboratories and provide better healthcare

Fundamentals of Molecular Diagnostics

David E. Bruns,Edward R. Ashwood,Carl A. Burtis
Fundamentals of Molecular Diagnostics Book PDF

Author : David E. Bruns,Edward R. Ashwood,Carl A. Burtis
Publisher : Elsevier Health Sciences
Page : 298 pages
File Size : 44,7 Mb
Release : 2007-05-25
Category : Medical
ISBN : 9781416037378

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Fundamentals of Molecular Diagnostics by David E. Bruns,Edward R. Ashwood,Carl A. Burtis Pdf

This book offers an introduction to the newest, fastest-growing field in laboratory science. Explaining and clarifying the molecular techniques used in diagnostic testing, this text provides both entry-level and advanced information. It covers the principles of molecular biology along with genomes and nucleic acid alterations, techniques and instrumentation, and applications of molecular diagnostics. Written by leading experts, including Patrick Bossuyt, Angela Caliendo, Rossa W.K. Chiu, Kojo S.J. Elenitoba-Johnson, Andrea Ferreira-Gonzalez, Amy Groszbach, Sultan Habeebu, Doris Haverstick, Malek Kamoun, Anthony Killeen, Noriko Kusukawa, Y.M. Dennis Lo, Elaine Lyon, Gwendolyn McMillin, Christopher Price, James Versalovic, Cindy Vnencak-Jones, Victor Weedn, Peter Wilding, Thomas Williams, and Carl Wittwer, this book includes illustrations, tables, and a colorful design to make information easy to find and easy to use. A full-color, 4-page insert shows realistic images of the output for many molecular tests. Learning Objectives open each chapter with an overview of what you should achieve. Key Words are listed and defined at the beginning of each chapter, and are bolded in the text. Review Questions at the end of every chapter let you measure your comprehension. Advanced Concepts are included, but set apart from the rest of the text, for students who want a higher level of learning. Ethics boxes address ethical issues, allowing you to apply your knowledge to real-life scenarios. A glossary of all key words may be easily accessed in the back of the book.

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

Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Systems for Research and Evaluation for Translating Genome Based Discoveries for Health Book PDF

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 102 pages
File Size : 50,9 Mb
Release : 2009-12-10
Category : Medical
ISBN : 9780309139830

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Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

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?

Molecular Diagnosis of Infectious Diseases

Jochen Decker,Udo Reischl
Molecular Diagnosis of Infectious Diseases Book PDF

Author : Jochen Decker,Udo Reischl
Publisher : Springer Science & Business Media
Page : 462 pages
File Size : 48,9 Mb
Release : 2008-02-01
Category : Medical
ISBN : 9781592596799

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Molecular Diagnosis of Infectious Diseases by Jochen Decker,Udo Reischl Pdf

Populations of the western world are now healthier and enjoying higher life expectancy than ever. They are beginning to benefit from an array of costly new therapies made possible through recent rapid advances in medical science and technology, and their demands on modern medicine are rising. Meanwhile, healthcare systems are struggling with their outdated legacy models of the m- th 20 century and are experiencing ever-increasing financial pressure from g- ernments and health insurance organizations. The equation is no longer in balance, and this predicament is forcing societies to explore new approaches to managing healthcare in the future. Since the first edition of Molecular Diagnosis of Infectious Diseases was published, we have witnessed the sequencing of the (almost) complete human genome and a shift in medical research from an emphasis on genetics to the advancement and useful application of proteomics. Bioinformatics has become the key tool for managing and analyzing the upsurge of data, and faster and more effective test methods and technologies have opened up new prospects for ind- try and academia. The tools of modern genomics and proteomics are now being utilized to specifically guide the discovery of drugs for the prevention, diagnosis, and treatment of human disease. They may also help us to find a way out of the current healthcare calamity.

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Lee-Jun C. Wong
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders Book PDF

Author : Lee-Jun C. Wong
Publisher : Springer
Page : 364 pages
File Size : 45,8 Mb
Release : 2017-05-15
Category : Science
ISBN : 9783319564180

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Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders by Lee-Jun C. Wong Pdf

Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.

Advances in Cell and Molecular Diagnostics

Pongali Raghavendra,Thammineni Pullaiah
Advances in Cell and Molecular Diagnostics Book PDF

Author : Pongali Raghavendra,Thammineni Pullaiah
Publisher : Academic Press
Page : 298 pages
File Size : 42,6 Mb
Release : 2018-01-10
Category : Medical
ISBN : 9780128136805

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Advances in Cell and Molecular Diagnostics by Pongali Raghavendra,Thammineni Pullaiah Pdf

Advances in Cell and Molecular Diagnostics brings the scientific advances in the translation and validation of cellular and molecular discoveries in medicine into the clinical diagnostic setting. It enumerates the description and application of technological advances in the field of cellular and molecular diagnostic medicine, providing an overview of specialized fields, such as biomarker, genetic marker, screening, DNA-profiling, NGS, cytogenetics, transcriptome, cancer biomarkers, prostate specific antigen, and biomarker toxicologies. In addition, it presents novel discoveries and clinical pathologic correlations, including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, and the description or polymorphisms linked to disease states. This book is a valuable resource for oncologists, practitioners and several members of the biomedical field who are interested in understanding how to apply cutting-edge technologies into diagnostics and healthcare. Encompasses the current scientific advances in the translation and validation of cellular and molecular discoveries into the clinical diagnostic setting Explains the application of cellular and molecular diagnostics methodologies in clinical trials Focuses on translating preclinical tests to the bedside in order to help readers apply the most recent technologies to healthcare

The Value of Genetic and Genomic Technologies

Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
The Value of Genetic and Genomic Technologies Book PDF

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 109 pages
File Size : 46,8 Mb
Release : 2010-11-29
Category : Medical
ISBN : 9780309184991

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The Value of Genetic and Genomic Technologies by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

Knowing one's genetic disposition to a variety of diseases, including common chronic diseases, can benefit both the individual and society at large. The IOM's Roundtable on Translating Genomic-Based Research for Health held a workshop on March 22, 2010, to bring together diverse perspectives on the value of genetic testing, and to discuss its use in clinical practice.