Download or read book Diagnostic Genetic Testing written by David Bourn and published by Springer Nature. This book was released on 2021-11-13 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
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.
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.
Download or read book Understanding Gene Testing written by and published by . This book was released on 1995 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Molecular Diagnosis of Genetic Diseases written by Rob Elles and published by Springer Science & Business Media. This book was released on 2008-02-01 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
Download or read book Genetic Testing for Developmental Disabilities Intellectual Disability and Autism Spectrum Disorder Technical Brief Number 23 written by Department Of Health And Human Services and published by . This book was released on 2015-11-02 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Technical Brief collects and summarizes information on genetic tests clinically available in the United States to detect genetic markers that predispose to DDs. It also identifies, but does not systematically review, existing evidence addressing the tests' clinical utility. This Brief primarily focuses on patients with idiopathic or unexplained DDs, particularly intellectual disability, global developmental delay, and autism spectrum disorder. Several better-defined DD syndromes, including Angelman syndrome, fragile X syndrome, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Smith-Magenis syndrome, velocardiofacial syndrome, and Williams syndrome are also included. Patient-centered health outcomes (e.g., functional or symptomatic improvement) and intermediate outcomes (e.g., changes in clinical decisions or family reproductive decisions, the tests' diagnostic accuracy and analytic validity) are examined.
Download or read book Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine written by Carlos Simón and published by CRC Press. This book was released on 2017-12-14 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: Different genetic diagnostic and treatment options are used worldwide to improve routine IVF procedures for the benefit of patients. This handbook updates the new genetic diagnostic technologies that have been translated to practice aiming to improve outcomes in the clinic and have a healthy baby at home. Chapters cover the use of genetic technologies in a personalized manner to unravel the possible genetic risks for the couple wishing to conceive, in terms of sperm, the embryo, the endometrium, miscarriage, and finally the fetus.
Download or read book Diagnostic Molecular Pathology written by William B. Coleman and published by Academic Press. This book was released on 2023-10-27 with total page 846 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second Edition assembles a group of experts to discuss the molecular basis and mechanisms of major human diseases and disease processes and how the molecular features of disease can be harnessed to develop practical molecular tests for disease detection, diagnosis and prognosis. The book explains how molecular tests are utilized in the treatment of patients in personalized medicine, highlights new technologies and approaches of applied molecular pathology, and discusses how this discovery-based research yields new and useful biomarkers and tests. As it is essential to stay up-to-date on new molecular diagnostics in this changing field, this book covers critically important areas in the practice of personalized medicine and reflects our understanding of the pathology, pathogenesis and pathophysiology of human disease. Includes new material on mass spectrometry for infectious diseases, microbiome, homology-directed repair for PARPi, whole genome sequencing for constitutional testing, and much more Provides insights on the value of the molecular test in comparison to traditional methods, which include speed, precision, sensitivity and clinical impacts for the patient Focuses on the menu of molecular diagnostic tests available in modern molecular pathology or clinical laboratories that can be applied to disease detection, diagnosis and classification in the clinical workup of a patient Explains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for the prognostication of disease
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 520 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
Download or read book Preimplantation Genetic Testing written by Darren K. Griffin and published by CRC Press. This book was released on 2020-06-01 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preimplantation genetic testing (PGT) is now well established as a valuable treatment option for patients wishing to start or continue a family, for a range of indications from advanced maternal age to high risk of transmitting inherited disease. This text brings together contemporary thinking from international opinion leaders and will be an invaluable guide for practitioners in Reproductive Medicine wishing to keep pace with the latest developments and clinical data.
Download or read book Principles and Applications of Molecular Diagnostics written by Nader Rifai and published by Elsevier. This book was released on 2018-06-13 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: Principles and Applications of Molecular Diagnostics serves as a comprehensive guide for clinical laboratory professionals applying molecular technology to clinical diagnosis. The first half of the book covers principles and analytical concepts in molecular diagnostics such as genomes and variants, nucleic acids isolation and amplification methods, and measurement techniques, circulating tumor cells, and plasma DNA; the second half presents clinical applications of molecular diagnostics in genetic disease, infectious disease, hematopoietic malignancies, solid tumors, prenatal diagnosis, pharmacogenetics, and identity testing. A thorough yet succinct guide to using molecular testing technology, Principles and Applications of Molecular Diagnostics is an essential resource for laboratory professionals, biologists, chemists, pharmaceutical and biotech researchers, and manufacturers of molecular diagnostics kits and instruments. Explains the principles and tools of molecular biology Describes standard and state-of-the-art molecular techniques for obtaining qualitative and quantitative results Provides a detailed description of current molecular applications used to solve diagnostics tasks
Download or read book Laboratory Screening and Diagnostic Evaluation written by Kelly Small Casler, DNP, APRN, FNP-BC, CHSE and published by Springer Publishing Company. This book was released on 2022-04-25 with total page 1111 pages. Available in PDF, EPUB and Kindle. Book excerpt: "[the authors] did a masterful job of creating and editing this gold standard book that should be used by all clinicians and incorporated into all nursing and health sciences curriculums." -Bernadette Mazurek Melnyk, PhD, APRN-CNP, FNAP, FAANP, FAAN Vice President for Health Promotion University Chief Wellness Officer Dean and Helene Fuld Health Trust Professor of Evidence-Based Practice, College of Nursing Professor of Pediatrics & Psychiatry, College of Medicine Executive Director, the Helene Fuld Health Trust National Institute for EBP The Ohio State University This is the only book to explicitly guide clinicians through an evidence-based approach to ordering and interpreting laboratory tests. With over 160 commonly ordered tests, this book is designed to foster more accurate clinical decision-making to attain the highest level of patient care. This book summarizes more than 3000 pieces of evidence and incorporates clinical expertise and decision-making on the ordering and interpretation of tests. To promote ease of use, a convenient table maps labs and their corresponding chapter numbers to the relevant body system to promote ease of use. Each laboratory test is presented in a consistent format with information on physiology, indications (screening, diagnosis, and monitoring), algorithms, test interpretation and follow-up testing, patient education, and related diagnoses. Additional valuable features include clinical pearls that highlight common pitfalls and gaps in reasoning, and a cost-benefit analysis. This book also includes CPT and ICD-10 codes, charts and tables for clarification, and references for further study. Key Features: Delivers a strong, evidence-based approach to ordering and interpreting over 160 laboratory tests Promotes accurate clinical decision-making toward achieving the Triple Aim Includes abundant clinical pearls highlighting common pitfalls and gaps in reasoning Provides cost-benefit analysis and discussion of laboratory testing within a high-value healthcare culture Includes 175 supplemental case examples and 200 self-assessment questions to facilitate instruction and learning Includes more than 3000 pieces of evidence from interprofessional resources
Download or read book Genetic Diagnosis of Endocrine Disorders written by Roy E. Weiss and published by Academic Press. This book was released on 2015-10-09 with total page 472 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases Teaches the essentials of the genetic basis of disease in each major endocrine organ system Offers expert advice from genetic counselors on how to use genetic information in counseling patients Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing
Download or read book Pediatric Epidemiology written by W. Kiess and published by Karger Medical and Scientific Publishers. This book was released on 2017-11-27 with total page 156 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pediatric epidemiology differs substantially from general epidemiology especially when it comes to ethical, developmental and societal aspects. This unique book addresses biological considerations and ethical and legal questions in dealing with pediatric and adolescent populations. Classic topics, such as how to recruit representative samples, how to deal with confounding variables, and how to work with genetic information are the core areas of the book are also in focus. Last but not the least, this volume adds to the current understanding of global trends in occurrence, transmission, and control of epidemic pediatric diseases. This book not only serves as a textbook for epidemiologists, pediatricians, geneticists, and child and public health specialists but is also a key reference for those embarking on pediatric cohort studies and epidemiological studies involving the pediatric population.
Download or read book Principles of Medical Genetics written by Thomas D. Gelehrter and published by Lippincott Williams & Wilkins. This book was released on 1998 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Retinal Degenerative Diseases written by Matthew M. LaVail and published by Springer Science & Business Media. This book was released on 2011-12-21 with total page 867 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will contain the proceedings of the XIV International Symposium on Retinal Degeneration (RD2010), held July 13-17, 2010, in Mont-Tremblant, Quebec, Canada. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.
Download or read book The Calculation of Genetic Risks written by Peter J. Bridge and published by . This book was released on 1997 with total page 222 pages. Available in PDF, EPUB and Kindle. Book excerpt: "It will be the basic aim of this book," writes Peter J. Bridge, "to impart to the reader the fundamentals of how we start with laboratory results and end up with numbers representing genetic risks." This practical guide for both clinical and research geneticists explains how to calculate an individual's genetic risk based on information available from genetic testing and from family pedigrees. Bridge begins with the general theory of estimating genetic risks, then progresses through familial and isolated cases, both simple and complex. A major strength of the book lies in the wealth of worked examples provided throughout the text. The disorders are selected to be widely applicable or adaptable as needed. New to this edition are sections on consanguinity, multipoint linkage analysis, nonparametric methods, homozygosity mapping, and physical mapping. Also new is a chapter on other DNA-based calculations, including sections on paternity, zygosity, family reconstructions, and quantification of mitochondrial mutations. From reviews of the first edition: "To use a computer package intelligently and safely, you need to have in reserve the ability to do the calculation by hand, at least approximately, so as to appreciate which factors contribute to the risk. And the current computer packages cannot cope with several factors which can crucially affect the final risk, such as germinal mosaicism or the risk of maternal cell contamination... Bridge's book is very thorough. Every combination of pedigree structure and marker data is discussed, with numerous tables showing the result of systematically varying one or more parameters." -- Journal of Medical Genetics "A useful reference book."-- American Journal of Human Genetics
