Generating Evidence For Genomic Diagnostic Test Development

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Generating Evidence for Genomic Diagnostic Test Development

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309211042
Total Pages : 106 pages
Book Rating : 4.3/5 (92 download)

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Book Synopsis Generating Evidence for Genomic Diagnostic Test Development by : Institute of Medicine

Download or read book Generating Evidence for Genomic Diagnostic Test Development written by Institute of Medicine and published by National Academies Press. This book was released on 2011-07-27 with total page 106 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

An Evidence Framework for Genetic Testing

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309453291
Total Pages : 149 pages
Book Rating : 4.3/5 (94 download)

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Book Synopsis An Evidence Framework for Genetic Testing by : National Academies of Sciences, Engineering, and Medicine

Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-04-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Assessing Genetic Risks

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Assessing Genetic Risks by : Institute of Medicine

Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Evolution of Translational Omics

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309224187
Total Pages : 354 pages
Book Rating : 4.3/5 (92 download)

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Book Synopsis Evolution of Translational Omics by : Institute of Medicine

Download or read book Evolution of Translational Omics written by Institute of Medicine and published by National Academies Press. This book was released on 2012-09-13 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.

Molecular Diagnostics

Author : George P. Patrinos
Publisher : Academic Press
ISBN 13 : 0128029889
Total Pages : 526 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Molecular Diagnostics by : George P. Patrinos

Download or read book Molecular Diagnostics written by George P. Patrinos and published by Academic Press. This book was released on 2016-10-27 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Improving Diagnosis in Health Care

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309377722
Total Pages : 473 pages
Book Rating : 4.3/5 (93 download)

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Book Synopsis Improving Diagnosis in Health Care by : National Academies of Sciences, Engineering, and Medicine

Download or read book Improving Diagnosis in Health Care written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2015-12-29 with total page 473 pages. Available in PDF, EPUB and Kindle. Book excerpt: Getting the right diagnosis is a key aspect of health care - it provides an explanation of a patient's health problem and informs subsequent health care decisions. The diagnostic process is a complex, collaborative activity that involves clinical reasoning and information gathering to determine a patient's health problem. According to Improving Diagnosis in Health Care, diagnostic errors-inaccurate or delayed diagnoses-persist throughout all settings of care and continue to harm an unacceptable number of patients. It is likely that most people will experience at least one diagnostic error in their lifetime, sometimes with devastating consequences. Diagnostic errors may cause harm to patients by preventing or delaying appropriate treatment, providing unnecessary or harmful treatment, or resulting in psychological or financial repercussions. The committee concluded that improving the diagnostic process is not only possible, but also represents a moral, professional, and public health imperative. Improving Diagnosis in Health Care, a continuation of the landmark Institute of Medicine reports To Err Is Human (2000) and Crossing the Quality Chasm (2001), finds that diagnosis-and, in particular, the occurrence of diagnostic errorsâ€"has been largely unappreciated in efforts to improve the quality and safety of health care. Without a dedicated focus on improving diagnosis, diagnostic errors will likely worsen as the delivery of health care and the diagnostic process continue to increase in complexity. Just as the diagnostic process is a collaborative activity, improving diagnosis will require collaboration and a widespread commitment to change among health care professionals, health care organizations, patients and their families, researchers, and policy makers. The recommendations of Improving Diagnosis in Health Care contribute to the growing momentum for change in this crucial area of health care quality and safety.

Genomic Medicine

Author : Dhavendra Kumar
Publisher : Oxford Monographs on Medical G
ISBN 13 : 019989602X
Total Pages : 853 pages
Book Rating : 4.1/5 (998 download)

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Book Synopsis Genomic Medicine by : Dhavendra Kumar

Download or read book Genomic Medicine written by Dhavendra Kumar and published by Oxford Monographs on Medical G. This book was released on 2014-10-15 with total page 853 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Genomic and Precision Medicine

Author : Geoffrey S. Ginsburg
Publisher : Academic Press
ISBN 13 : 0128006544
Total Pages : 372 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 2017-03-30 with total page 372 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners. - Presents a comprehensive volume for primary care providers - Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine - Includes a current overview on major opportunities for genomic and personalized medicine in practice - Highlights case studies that illustrate the practical use of genomics in the management in patients

Genome-Based Diagnostics

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309253977
Total Pages : 104 pages
Book Rating : 4.3/5 (92 download)

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Book Synopsis Genome-Based Diagnostics by : Institute of Medicine

Download or read book Genome-Based Diagnostics written by Institute of Medicine and published by National Academies Press. This book was released on 2012-06-27 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Precision Public Health

Author : Tarun Weeramanthri
Publisher : Frontiers Media SA
ISBN 13 : 2889455017
Total Pages : 149 pages
Book Rating : 4.8/5 (894 download)

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Book Synopsis Precision Public Health by : Tarun Weeramanthri

Download or read book Precision Public Health written by Tarun Weeramanthri and published by Frontiers Media SA. This book was released on 2018-06-25 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Precision Public Health is a new and rapidly evolving field, that examines the application of new technologies to public health policy and practice. It draws on a broad range of disciplines including genomics, spatial data, data linkage, epidemiology, health informatics, big data, predictive analytics and communications. The hope is that these new technologies will strengthen preventive health, improve access to health care, and reach disadvantaged populations in all areas of the world. But what are the downsides and what are the risks, and how can we ensure the benefits flow to those population groups most in need, rather than simply to those individuals who can afford to pay? This is the first collection of theoretical frameworks, analyses of empirical data, and case studies to be assembled on this topic, published to stimulate debate and promote collaborative work.

Clinical Genomics

Author : Shashikant Kulkarni
Publisher : Academic Press
ISBN 13 : 0124051731
Total Pages : 489 pages
Book Rating : 4.1/5 (24 download)

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Book Synopsis Clinical Genomics by : Shashikant Kulkarni

Download or read book Clinical Genomics written by Shashikant Kulkarni and published by Academic Press. This book was released on 2014-11-10 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Companion Diagnostics (CDx) in Precision Medicine

Author : Il-Jin Kim
Publisher : CRC Press
ISBN 13 : 1000007219
Total Pages : 206 pages
Book Rating : 4.0/5 ( download)

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Book Synopsis Companion Diagnostics (CDx) in Precision Medicine by : Il-Jin Kim

Download or read book Companion Diagnostics (CDx) in Precision Medicine written by Il-Jin Kim and published by CRC Press. This book was released on 2019-03-06 with total page 206 pages. Available in PDF, EPUB and Kindle. Book excerpt: There is a new trend in anti-cancer therapeutics development: a targeted therapy and precision medicine that targets a subgroup of patients with specific biomarkers. An in vitro diagnostic (IVD) assay is required to identify a subgroup of cancer patients who would benefit from the targeted therapy, or not likely benefit, or have a high risk of side effects from the specific drug treatment. This IVD or medical device is called a companion diagnostic (CDx) assay. It is key to have a robust CDx assay or device for the success of targeted therapy and precision medicine. This book covers the technical, historical, clinical, and regulatory aspects of CDx in precision medicine. Clearly, more and more newly developed oncology drugs will require accompanying CDx assays, and this book, with chapters contributed by renowned oncologists, provides a comprehensive foundation for the knowledge and application of CDx for precision medicine.

Molecular Genetic Pathology

Author : Liang Cheng
Publisher : Springer
ISBN 13 : 9781461447993
Total Pages : 1136 pages
Book Rating : 4.4/5 (479 download)

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Book Synopsis Molecular Genetic Pathology by : Liang Cheng

Download or read book Molecular Genetic Pathology written by Liang Cheng and published by Springer. This book was released on 2013-03-05 with total page 1136 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.

Human Genetics and Genomics

Author : Bruce R. Korf
Publisher : John Wiley & Sons
ISBN 13 : 1118537661
Total Pages : 280 pages
Book Rating : 4.1/5 (185 download)

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Book Synopsis Human Genetics and Genomics by : Bruce R. Korf

Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

The Future of Precision Medicine in Australia

Author : Robert C. Williamson
Publisher :
ISBN 13 : 9780994373878
Total Pages : 180 pages
Book Rating : 4.3/5 (738 download)

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Book Synopsis The Future of Precision Medicine in Australia by : Robert C. Williamson

Download or read book The Future of Precision Medicine in Australia written by Robert C. Williamson and published by . This book was released on 2018-01-31 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Future of Precision Medicine in Australia explores the current trends in precision medicine technologies and the role that broader implementation of precision medicine capabilities may play in the Australian context.Recent technological advances allow the determination of a wide range of data about an individual's genetic and biochemical make-up, as formed by their genes, environment and lifestyle. These advances can and do affect the clinical management of a person's health and disease. The ability to analyse disease in terms of an individual's make-up, when compared with and studied alongside aggregated clinical and laboratory data from healthy and diseased populations, is termed 'precision' or 'personalised' medicine. Although medicine has always had personal and predictive aspects, precision medicine allows health and disease to be viewed at an increasingly fine-grained resolution, attuned to the complexities of both the biology of each individual and variation within the population.

Molecular Diagnostics of Infectious Diseases

Author : Harald H. Kessler
Publisher : Walter de Gruyter GmbH & Co KG
ISBN 13 : 3110373475
Total Pages : 243 pages
Book Rating : 4.1/5 (13 download)

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Book Synopsis Molecular Diagnostics of Infectious Diseases by : Harald H. Kessler

Download or read book Molecular Diagnostics of Infectious Diseases written by Harald H. Kessler and published by Walter de Gruyter GmbH & Co KG. This book was released on 2014-07-28 with total page 243 pages. Available in PDF, EPUB and Kindle. Book excerpt: The prevalence of infectious diseases is worldwide increasing. Therefore, detection methods for infectious pathogens change quickly. In the 3rd edition of Kessler ́s Molecular Diagnostics of Infectious Diseases laboratory professionalists get valueable information about the current diagnostic methods, tipps and tricks in terms of sample processing, quality control, and interpretation of the results. For clinicians the book is a valuable aid for decision-making in ordering appropriate tests as well as in assuring the necessary quality of the sample material.

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

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309147417
Total Pages : 103 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health by : Institute of Medicine

Download or read book Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health written by Institute of Medicine and published by National Academies Press. This book was released on 2009-11-10 with total page 103 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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?