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Genome-Based Diagnostics

Author: Institute of Medicine

Publisher: National Academies Press

Published: 2012-07-27

Total Pages: 104

ISBN-13: 0309253942

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

Author: Roundtable on Translating Genomic-Based Research for Health

Publisher: National Academies Press

Published: 2014-01-10

Total Pages: 0

ISBN-13: 9780309269599

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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

Author: Institute of Medicine

Publisher: National Academies Press

Published: 2014-03-06

Total Pages: 74

ISBN-13: 0309298245

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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

Author: David Whitehouse

Publisher: Royal Society of Chemistry

Published: 2019-01-29

Total Pages: 594

ISBN-13: 1788016807

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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.

Generating Evidence for Genomic Diagnostic Test Development

Author: Institute of Medicine

Publisher: National Academies Press

Published: 2011-06-27

Total Pages: 106

ISBN-13: 0309211077

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Ten years after the sequencing of the human genome, scientists have developed genetic tests that can predict a person's response to certain drugs, estimate the risk of developing Alzheimer's disease, and make other predictions based on known links between genes and diseases. However, genetic tests have yet to become a routine part of medical care, in part because there is not enough evidence to show they help improve patients' health. The Institute of Medicine (IOM) held a workshop to explore how researchers can gather better evidence more efficiently on the clinical utility of genetic tests. Generating Evidence for Genomic Diagnostic Test Development compares the evidence that is required for decisions regarding clearance, use, and reimbursement, to the evidence that is currently generated. The report also addresses innovative and efficient ways to generate high-quality evidence, as well as barriers to generating this evidence. Generating Evidence for Genomic Diagnostic Test Development contains information that will be of great value to regulators and policymakers, payers, health-care providers, researchers, funders, and evidence-based review groups.

Molecular Diagnostics

Author: George P. Patrinos

Publisher: Academic Press

Published: 2016-10-27

Total Pages: 526

ISBN-13: 0128029889

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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

Genome-Based Diagnostics

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Molecular Diagnostics

Author: George P. Patrinos

Publisher: Academic Press

Published: 2009-08-21

Total Pages: 617

ISBN-13: 0080923186

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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

Next Generation Sequencing Based Diagnostic Approaches in Clinical Oncology

Author: Anton A. Buzdin

Publisher: Frontiers Media SA

Published: 2021-03-09

Total Pages: 180

ISBN-13: 2889665755

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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 Molecular Biology

Author: Chang-Hui Shen

Publisher: Elsevier

Published: 2023-06-29

Total Pages: 590

ISBN-13: 0323986099

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Diagnostic Molecular Biology, Second Edition describes the fundamentals of molecular biology in a clear, concise manner with each technique explained within its conceptual framework and current applications of clinical laboratory techniques comprehensively covered. This targeted approach covers the principles of molecular biology, including basic knowledge of nucleic acids, proteins and chromosomes; the basic techniques and instrumentations commonly used in the field of molecular biology, including detailed procedures and explanations; and the applications of the principles and techniques currently employed in the clinical laboratory. Topics such as whole exome sequencing, whole genome sequencing, RNA-seq, and ChIP-seq round out the discussion. Fully updated, this new edition adds recent advances in the detection of respiratory virus infections in humans, like influenza, RSV, hAdV, hRV but also corona. This book expands the discussion on NGS application and its role in future precision medicine. Provides explanations on how techniques are used to diagnosis at the molecular level Explains how to use information technology to communicate and assess results in the lab Enhances our understanding of fundamental molecular biology and places techniques in context Places protocols into context with practical applications Includes extra chapters on respiratory viruses (Corona)