Download or read book Genomic Applications in Pathology written by George Jabboure Netto and published by Springer. This book was released on 2014-09-16 with total page 616 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomic Applications in Pathology provides a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays are discussed together with issues related to reporting, including the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms are detailed, as well as genomic applications in pharmacogenomics, inherited genetic diseases, and infectious diseases. The latest iteration of practice recommendations and guidelines in genomic testing, put forth by stakeholder professional organizations such as the Association for Molecular Pathology and the College of American Pathologists, are also discussed in the volume, as well as regulatory issues and laboratory accreditation related to genomic testing. Written by experts in the field, Genomic Applications in Pathology provides a comprehensive resource that is of great value to practicing molecular pathologists, hematopathologists, other subspecialized pathologists, general pathologists, pathology trainees, oncologists, and geneticists.​

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.

Download or read book Diagnostic Immunohistochemistry written by David J. Dabbs and published by Churchill Livingstone. This book was released on 2006 with total page 858 pages. Available in PDF, EPUB and Kindle. Book excerpt: Offers current information and guidance on immunohistochemical diagnoses in surgical pathology and cytopathology. The book is organized in a consistent format of organ systems, specifically designed to target diagnostic dilemmas in surgical pathology. Each chapter features an introduction and a systematic approach to the diagnostic entities of that organ system. Provides a reference for pathologists practicing diagnostic surgical pathology and cytopathology. Structured in the organ-system approach to tumor pathology, with each chapter capable of standing alone. Extensive references and full-color illustrations are included.

Download or read book Genomic Medicine written by Laura J. Tafe and published by Springer Nature. This book was released on 2019-09-26 with total page 325 pages. Available in PDF, EPUB and Kindle. Book excerpt: The field of Molecular Diagnostics is rapidly evolving and molecular characterization of neoplasms is becoming an increasingly important part of the pathologic work up and diagnosis of many tumor types. This work provides a high-yield reference book that compiles critical information related to molecular biomarkers for various solid tumor and hematologic malignancy subtypes. It is succinct yet comprehensive enough to be suitable for fellows in training and medical professionals with an interest in molecular pathology and biomarkers. The book covers many aspects of molecular diagnostics, from techniques to applications and comprehensive summaries of the current molecular biomarkers of critical importance in solid and liquid tumors. Attention is also specifi cally devoted to bioinformatics and next generation sequencing, as well as pre-analytical issues that must be considered for accurate interpretation of molecular results in the context of overall patient care. This text focuses on clinical utility and validity and serves as an “owner’s manual” in Genomic Diagnostics for the practicing pathologist, pathology fellows and residents and other health care providers. Physicians will find this book invaluable as a quick reference for current molecular testing modalities and guidelines, tumor board preparation, deciding which test to order and interpreting genomic laboratory results. In addition, it is an accessible for trainees as a board review preparation reference.

Download or read book Genomic Applications in Pathology written by George Jabboure Netto and published by Springer. This book was released on 2018-12-10 with total page 638 pages. Available in PDF, EPUB and Kindle. Book excerpt: ​The recent advances in genomics are continuing to reshape our approach to diagnostics, prognostics and therapeutics in oncologic and other disorders. A paradigm shift in pharmacogenomics and in the diagnosis of genetic inherited diseases and infectious diseases is unfolding as the result of implementation of next generation genomic technologies. With rapidly growing knowledge and applications driving this revolution, along with significant technologic and cost changes, genomic approaches are becoming the primary methods in many laboratories and for many diseases. As a result, a plethora of clinical genomic applications have been implemented in diagnostic pathology laboratories, and the applications and demands continue to evolve rapidly. This has created a tremendous need for a comprehensive resource on genomic applications in clinical and anatomic pathology. We believe that our current textbook provides such a resource to practicing molecular pathologists, hematopathologists and other subspecialized pathologists, general pathologists, pathology and other trainees, oncologists, geneticists and a growing spectrum of other clinicians. With periodic updates and a sufficiently rapid time from submission to publication, this textbook will be the resource of choice for many professionals and teaching programs. Its focus on genomics parallels the evolution of these technologies as primary methods in the clinical lab. The rapid evolution of genomics and its applications in medicine necessitates the (frequent) updating of this publication. This text will provide a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays will be discussed together with issues related to reporting and the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms will be detailed. Genomic applications in pharmacogenomics, inherited genetic diseases and infectious diseases will also be discussed. The latest iteration of practice recommendations or guidelines in genomic testing put forth by stakeholder professional organizations such as the College of American Pathology and the Association for Molecular Pathology, will be discussed as well as regulatory issues and laboratory accreditation related to genomic testing. All chapters will be written by experts in their fields and will include the most up to date scientific and clinical information.

Download or read book Molecular Genetic Testing in Surgical Pathology written by John D. Pfeifer and published by Lippincott Williams & Wilkins. This book was released on 2006 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by experts from Washington University School of Medicine, this text is a thorough review of the specific molecular genetic techniques that can provide diagnostically useful molecular genetic information on tissue samples—including cytogenetics, fluorescence in situ hybridization (FISH), PCR, electrophoresis and hybridization analysis, DNA sequence analysis, and microarrays. The first part of the book describes each technique, indicates its advantages, disadvantages, capabilities, and limitations, and systematically addresses sensitivity and specificity issues. Subsequent chapters, organized by organ system, detail the specific applications of these tests in surgical pathology. More than 150 full-color and black-and-white illustrations complement the text.

Download or read book Molecular Diagnostics written by Wayne W. Grody and published by Academic Press. This book was released on 2009-11-06 with total page 518 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genomic and proteomic profiling of disease have transformed the field of molecular diagnostics, thus leading the way for a major revolution in clinical practice. While the range of tests for disease detection and staging is rapidly expanding, many physicians lack the knowledge required to determine which tests to order and how to interpret results. Molecular Diagnostics provides a complete guide to the use and interpretation of molecular testing in the clinical arena. No other available resource offers this emphasis, comprehensive scope, and practical utility in the clinical setting. Serves as the definitivereference for molecular pathologists worldwide Covers a variety of molecular techniques including next generation sequencing, tumor somatic cell genotyping, infectious and genetic disease tecting, and pharmacogenetics Discusses in the detail issues concerning quality assurance, regulation, ethics, and future directions for the science

Download or read book Diagnostic Immunohistochemistry written by David J Dabbs and published by Elsevier Health Sciences. This book was released on 2010-01-29 with total page 3108 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnostic Immunohistochemistry presents the latest information and most reliable guidance on immunohistological diagnoses in surgical pathology. David J. Dabbs, MD and other leading experts bring you state-of-the-art coverage on genomic and theranostic applications, molecular anatomic pathology, immunocytology, Non-Hodgkin’s lymphoma, and more. Additional features such as tables discussing antibody specifications, differential diagnosis boxes, ancillary anatomic molecular diagnostics, and full-color histological images ensure user-friendly coverage that makes key information easy to find and apply. This concise and complete resource is today’s indispensable guide to the effective use of immunohistochemical diagnosis. Discusses diagnostic pitfalls through immunohistologic differential diagnosis wherever appropriate so you can provide the most accurate diagnoses. Presents chapters arranged by organ system for comprehensive coverage of all relevant information in a convenient and intuitive organization. Provides quick reference graphs for antibodies throughout the text that illustrate the frequency of immunostaining for a variety of antibodies in tumors. Includes Key Diagnostic Points boxes in every chapter for a quick summary of text areas that are of particular importance. Features an expert author for each chapter to ensure coverage of the current state of the art. Provides guidance on the role of genomics in identifying genetic and molecular aspects of disease that may affect patient care and therapeutic approaches. Covers theranostic applications to enable you to evaluate therapeutic choices based on immunohistochemical results. Reflects the latest developments in the field through new chapters on molecular anatomic pathology and immunocytology, as well as updated chapters on immunohistology of the prostate, bladder, testis, and kidney and Non-Hodgkin’s lymphoma. Discusses antibody specifications with tables that convey information on uses, clones, vendors, sources, antibody titers, and types of antigen retrieval. Presents key differential diagnoses boxes that provide tabular summaries of DDx and algorithms. Features discussions of ancillary anatomic molecular diagnostics as an adjunct to immunohistochemistry for a more well-rounded diagnostic approach.

Download or read book Assessing Genomic Sequencing Information for Health Care Decision Making written by Institute of Medicine and published by National Academies Press. This book was released on 2014-08-19 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rapid advances in technology have lowered the cost of sequencing an individual's genome from the several billion dollars that it cost a decade ago to just a few thousand dollars today and have correspondingly greatly expanded the use of genomic information in medicine. Because of the lack of evidence available for assessing variants, evaluation bodies have made only a few recommendations for the use of genetic tests in health care. For example, organizations, such as the Evaluation of Genomic Applications in Practice and Prevention working group, have sought to set standards for the kinds of evaluations needed to make population-level health decisions. However, due to insufficient evidence, it has been challenging to recommend the use of a genetic test. An additional challenge to using large-scale sequencing in the clinic is that it may uncover "secondary," or "incidental," findings - genetic variants that have been associated with a disease but that are not necessarily related to the conditions that led to the decision to use genomic testing. Furthermore, as more genetic variants are associated with diseases, new information becomes available about genomic tests performed previously, which raises issues about how and whether to return this information to physicians and patients and also about who is responsible for the information. To help develop a better understanding of how genomic information is used for healthcare decision making, the Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine held a workshop in Washington,DC in February 2014. Stakeholders, including clinicians, researchers, patients, and government officials, discussed the issues related to the use of genomic information in medical practice. Assessing Genomic Sequencing Information for Health Care Decision Making is the summary of that workshop. This report compares and contrasts evidence evaluation processes for different clinical indications and discusses key challenges in the evidence evaluation process.

Download or read book Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2018-11-20 with total page 414 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics

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 2011-06-27 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.

Download or read book Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2021-11-02 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Download or read book Molecular Pathology written by William B. Coleman and published by Academic Press. This book was released on 2017-11-09 with total page 805 pages. Available in PDF, EPUB and Kindle. Book excerpt: As the molecular basis of human disease becomes better characterized, and the implications for understanding the molecular basis of disease becomes realized through improved diagnostics and treatment, Molecular Pathology, Second Edition stands out as the most comprehensive textbook where molecular mechanisms represent the focus. It is uniquely concerned with the molecular basis of major human diseases and disease processes, presented in the context of traditional pathology, with implications for translational molecular medicine. The Second Edition of Molecular Pathology has been thoroughly updated to reflect seven years of exponential changes in the fields of genetics, molecular, and cell biology which molecular pathology translates in the practice of molecular medicine. The textbook is intended to serve as a multi-use textbook that would be appropriate as a classroom teaching tool for biomedical graduate students, medical students, allied health students, and others (such as advanced undergraduates). Further, this textbook will be valuable for pathology residents and other postdoctoral fellows that desire to advance their understanding of molecular mechanisms of disease beyond what they learned in medical/graduate school. In addition, this textbook is useful as a reference book for practicing basic scientists and physician scientists that perform disease-related basic science and translational research, who require a ready information resource on the molecular basis of various human diseases and disease states. Explores the principles and practice of molecular pathology: molecular pathogenesis, molecular mechanisms of disease, and how the molecular pathogenesis of disease parallels the evolution of the disease Explains the practice of “molecular medicine and the translational aspects of molecular pathology Teaches from the perspective of “integrative systems biology Enhanced digital version included with purchase

Download or read book Diagnostic Immunohistochemistry E Book written by David J Dabbs and published by Elsevier Health Sciences. This book was released on 2017-11-29 with total page 992 pages. Available in PDF, EPUB and Kindle. Book excerpt: User-friendly and concise, the new edition of this popular reference is your #1 guide for the appropriate use of immunohistochemical stains. Dr. David J. Dabbs and leading experts in the field use a consistent, organ system approach to cover all aspects of the field, with an emphasis on the role of genomics in diagnosis and theranostic applications that will better inform treatment options. Each well-written and well-researched chapter is enhanced with diagnostic algorithms, charts, tables, and superb, full-color histologic images, making this text a practical daily resource for all surgical pathologists. Features a systematic approach to the diagnostic entities of each organ system, including detailed differential diagnoses, diagnostic algorithms, and immunohistograms that depict immunostaining patterns of tumors. Covers many more antigens than other texts, and discusses antibody specifications with tables that convey information on uses, clones, vendors, sources, antibody titers, and types of antigen retrieval. Discusses diagnostic pitfalls through immunohistologic differential diagnosis wherever appropriate so you can provide the most accurate diagnoses. Contains new material on non-lymphoid malignancies, Hodgkin/non-Hodgkin lymphoma, and an expanded chapter on digital imaging and quantilative immunohistochemistry. Provides new grading schemes for several organs, along with new antibodies to cover more genomic immunohistochemistry applications. Offers more emphasis in the breast section of "eyes on" tissue for molecular/IHC prognostics compared to the current trend of gene-expression profiling of breast cancer.

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

Download or read book Genetics and Genomics in Medicine written by Tom Strachan and published by CRC Press. This book was released on 2022-10-31 with total page 972 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of this textbook written for undergraduate students, graduate students and medical researchers, Genetics and Genomics in Medicine explains the science behind the uses of genetics and genomics in medicine today, and how it is being applied. Maintaining the features that made the first edition so popular, this second edition has been thoroughly updated in line with the latest developments in the field. DNA technologies are explained, with emphasis on the modern techniques that are revolutionizing the use of genetic information in medicine and indicating the role of genetics in common diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. A dedicated chapter charts the latest insights into the molecular basis of cancers, cancer genomics and novel approaches to cancer detection. Coverage of genetic testing at the level of genes, chromosomes and genomes has been significantly expanded and updated. Extra prominence has been given to additional genomic analyses, ethical aspects, and novel therapeutic approaches. Various case studies illustrate selected clinical applications. Key Features Comprehensive and integrated account of how genetics and genomics affect the entire spectrum of human health and disease Exquisite artwork illuminates the key concepts and mechanisms Summary points at the end of each chapter help to consolidate learning For each chapter, an abundance of further reading to help provide the reader with direction for further study Inclusive online question bank to test understanding Standard boxes summarizing certain key principles in genetics Clinical boxes summarizing selected case studies, pathogenesis mechanisms or novel therapies for selected diseases This book is equally suited for newcomers to the field as well as for engineers and scientists that have basic knowledge in this field but are interested in obtaining more information about specific future applications..

Download or read book Genomic Medicine written by Dhavendra Kumar and published by Oxford University Press. This book was released on 2014-09-26 with total page 853 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a comprehensive coverage of principles of genetics and genomics relevant to the practice of medicine.