Genomic Applications in Pathology PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Genomic Applications in Pathology PDF full book. Access full book title Genomic Applications in Pathology by George Jabboure Netto. Download full books in PDF and EPUB format.
Author: George Jabboure Netto
Publisher: Springer
ISBN: 1493907271
Category : Medical
Languages : en
Pages : 616
Get Book Here
Book Description
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.
Author: George Jabboure Netto
Publisher: Springer
ISBN: 3319968300
Category : Medical
Languages : en
Pages : 638
Get Book Here
Book Description
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.
Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309673038
Category : Medical
Languages : en
Pages : 113
Get Book Here
Book Description
Consumer genomics, encompassing both direct-to-consumer applications (i.e., genetic testing that is accessed by a consumer directly from a commercial company apart from a health care provider) and consumer-driven genetic testing (i.e., genetic testing ordered by a health care provider in response to an informed patient request), has evolved considerably over the past decade, moving from more personal utility-focused applications outside of traditional health care to interfacing with clinical care in nontraditional ways. As consumer genomics has increasingly intersected with clinical applications, discussions have arisen around the need to demonstrate clinical and analytical validity and clinical utility due to the potential for misinterpretation by consumers. Clinical readiness and interest for this information have presented educational and training challenges for providers. At the same time, consumer genomics has emerged as a potentially innovative mechanism for thinking about health literacy and engaging participants in their health and health care. To explore the current landscape of consumer genomics and the implications for how genetic test information is used or may be used in research and clinical care, the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine hosted a public workshop on October 29, 2019, in Washington, DC. Discussions included such topics as the diversity of participant populations, the impact of consumer genomics on health literacy and engagement, knowledge gaps related to the use of consumer genomics in clinical care, and regulatory and health policy issues such as data privacy and security. A broad array of stakeholders took part in the workshop, including genomics and consumer genomics experts, epidemiologists, health disparities researchers, clinicians, users of consumer genomics research applications, representatives from patient advocacy groups, payers, bioethicists, regulators, and policy makers. This publication summarizes the presentations and discussion of the workshop.
Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309211077
Category : Medical
Languages : en
Pages : 106
Get Book Here
Book Description
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.
Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309304970
Category : Medical
Languages : en
Pages : 104
Get Book Here
Book Description
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.
Author: John D. Pfeifer
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781747486
Category : Medical
Languages : en
Pages : 530
Get Book Here
Book Description
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.
Author: David J Dabbs
Publisher: Elsevier Health Sciences
ISBN: 0323551602
Category : Medical
Languages : en
Pages : 992
Get Book Here
Book Description
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.
Author: Geoffrey S. Ginsburg
Publisher: Academic Press
ISBN: 0123822270
Category : Science
Languages : en
Pages : 1343
Get Book Here
Book Description
Genomic and Personalized Medicine, Second Edition - winner of a 2013 Highly Commended BMA Medical Book Award for Medicine - is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003. Highly Commended 2013 BMA Medical Book Award for Medicine More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis
Author: Laura J. Tafe
Publisher: Springer Nature
ISBN: 303022922X
Category : Medical
Languages : en
Pages : 325
Get Book Here
Book Description
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.
Author: Reed E. Pyeritz
Publisher: Academic Press
ISBN: 0128152370
Category : Science
Languages : en
Pages : 320
Get Book Here
Book Description
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
Author: Dhavendra Kumar
Publisher: Oxford University Press
ISBN: 0199398089
Category : Medical
Languages : en
Pages : 853
Get Book Here
Book Description
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.
