An Evidence Framework for Genetic Testing

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Author :
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.

Mammography and Beyond

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Publisher : National Academies Press
ISBN 13 : 0309171318
Total Pages : 311 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Mammography and Beyond by : National Research Council

Download or read book Mammography and Beyond written by National Research Council and published by National Academies Press. This book was released on 2001-07-23 with total page 311 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each year more than 180,000 new cases of breast cancer are diagnosed in women in the U.S. If cancer is detected when small and local, treatment options are less dangerous, intrusive, and costly-and more likely to lead to a cure. Yet those simple facts belie the complexity of developing and disseminating acceptable techniques for breast cancer diagnosis. Even the most exciting new technologies remain clouded with uncertainty. Mammography and Beyond provides a comprehensive and up-to-date perspective on the state of breast cancer screening and diagnosis and recommends steps for developing the most reliable breast cancer detection methods possible. This book reviews the dramatic expansion of breast cancer awareness and screening, examining the capabilities and limitations of current and emerging technologies for breast cancer detection and their effectiveness at actually reducing deaths. The committee discusses issues including national policy toward breast cancer detection, roles of public and private agencies, problems in determining the success of a technique, availability of detection methods to specific populations of women, women's experience during the detection process, cost-benefit analyses, and more. Examining current practices and specifying research and other needs, Mammography and Beyond will be an indispensable resource to policy makers, public health officials, medical practitioners, researchers, women's health advocates, and concerned women and their families.

Biomarkers in Breast Cancer

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Publisher : Springer Science & Business Media
ISBN 13 : 159259915X
Total Pages : 335 pages
Book Rating : 4.5/5 (925 download)

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Book Synopsis Biomarkers in Breast Cancer by : Giampietro Gasparini

Download or read book Biomarkers in Breast Cancer written by Giampietro Gasparini and published by Springer Science & Business Media. This book was released on 2008-01-17 with total page 335 pages. Available in PDF, EPUB and Kindle. Book excerpt: Expert laboratory and clinical researchers from around the world review how to design and evaluate studies of tumor markers and examine their use in breast cancer patients. The authors cover both the major advances in sophisticated molecular methods and the state-of-the-art in conventional prognostic and predictive indicators. Among the topics discussed are the relevance of rigorous study design and guidelines for the validation studies of new biomarkers, gene expression profiling by tissue microarrays, adjuvant systemic therapy, and the use of estrogen, progesterone, and epidermal growth factor receptors as both prognostic and predictive indicators. Highlights include the evaluation of HER2 and EGFR family members, of p53, and of UPA/PAI-1; the detection of rare cells in blood and marrow; and the detection and analysis of soluble, circulating markers.

Principles of Molecular Oncology

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Publisher :
ISBN 13 : 9781475762730
Total Pages : 472 pages
Book Rating : 4.7/5 (627 download)

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Book Synopsis Principles of Molecular Oncology by : Miguel H. Bronchud

Download or read book Principles of Molecular Oncology written by Miguel H. Bronchud and published by . This book was released on 2014-01-15 with total page 472 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Saving Women's Lives

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Publisher : National Academies Press
ISBN 13 : 0309165946
Total Pages : 384 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Saving Women's Lives by : National Research Council

Download or read book Saving Women's Lives written by National Research Council and published by National Academies Press. This book was released on 2005-03-18 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: The outlook for women with breast cancer has improved in recent years. Due to the combination of improved treatments and the benefits of mammography screening, breast cancer mortality has decreased steadily since 1989. Yet breast cancer remains a major problem, second only to lung cancer as a leading cause of death from cancer for women. To date, no means to prevent breast cancer has been discovered and experience has shown that treatments are most effective when a cancer is detected early, before it has spread to other tissues. These two facts suggest that the most effective way to continue reducing the death toll from breast cancer is improved early detection and diagnosis. Building on the 2001 report Mammography and Beyond, this new book not only examines ways to improve implementation and use of new and current breast cancer detection technologies but also evaluates the need to develop tools that identify women who would benefit most from early detection screening. Saving Women's Lives: Strategies for Improving Breast Cancer Detection and Diagnosis encourages more research that integrates the development, validation, and analysis of the types of technologies in clinical practice that promote improved risk identification techniques. In this way, methods and technologies that improve detection and diagnosis can be more effectively developed and implemented.

Molecular Diagnosis of Cancer

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Publisher : Springer Science & Business Media
ISBN 13 : 1592597602
Total Pages : 389 pages
Book Rating : 4.5/5 (925 download)

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Book Synopsis Molecular Diagnosis of Cancer by : Joseph E. Roulston

Download or read book Molecular Diagnosis of Cancer written by Joseph E. Roulston and published by Springer Science & Business Media. This book was released on 2008-02-01 with total page 389 pages. Available in PDF, EPUB and Kindle. Book excerpt: We are currently experiencing a fundamental shift in the way in which we approach the characterization of cancer. Never before has the make up of cancer tissues and individual cells been so exhaustively researched and char- terized. We are now capable of producing molecular “fingerprints” that ch- acterize the expression of all known and unknown genes within tumors and their surrounding tissues. More than 30,000 different genes may be measured in each patient’s tumor in a single experiment. Simultaneously, novel therapies that exploit the molecular roadmap have been developed and are now being offered to patients. These novel agents, such as Glivec, Herceptin, Iressa, and others, specifically target individual genes within tumors and can produce d- matic responses in some patients. These drugs are only the forerunners of a coming tidal wave of novel therapeutics that individually target specific m- ecules within cancer cells—more than 300 such agents are currently in phase I or II clinical trials. This is an exciting time for cancer specialists and patients alike. However, if we have learned anything from the past 50 or more years of research into cancer, it is that Lord Beaverbrook, in founding the British national health service in the 1950s, was frighteningly prescient when he defined the primary goal of health care to be “Diagnosis, Diagnosis, Diag- sis. ” Now, more than ever, it is essential that appropriate diagnostic methods and approaches are applied to the selection of patients for treatment.

Developing Technologies for Early Detection of Breast Cancer

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Publisher : National Academies Press
ISBN 13 : 0309183952
Total Pages : 24 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Developing Technologies for Early Detection of Breast Cancer by : National Research Council

Download or read book Developing Technologies for Early Detection of Breast Cancer written by National Research Council and published by National Academies Press. This book was released on 2000-07-06 with total page 24 pages. Available in PDF, EPUB and Kindle. Book excerpt: In November 1999, the Institute of Medicine, in consultation with the Commission on Life Sciences, the Commission on Physical Sciences, Mathematics, and Applications, and the Board on Science, Technology and Economic Policy launched a one year study on technologies for early detection of breast cancer. The committee was asked to examine technologies under development for early breast cancer detection, and to scrutinize the process of medical technology development, adoption, and dissemination. The committee is gathering information on these topics for its report in a number of ways, including two public workshops that bring in outside expertise. The first workshop on "Developing Technologies for Early Breast Cancer Detection" was held in Washington DC in February 2000. The content of the presentations at the workshop is summarized here. A second workshop, which will focus on the process of technology development and adoption, will be held in Washington, DC on June 19-20. A formal report on these topics, including conclusions and recommendations, will be prepared by the committee upon completion of the one-year study.

Molecular Pathology of Breast Cancer

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Publisher : Springer
ISBN 13 : 3319417614
Total Pages : 427 pages
Book Rating : 4.3/5 (194 download)

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Book Synopsis Molecular Pathology of Breast Cancer by : Sunil Badve

Download or read book Molecular Pathology of Breast Cancer written by Sunil Badve and published by Springer. This book was released on 2016-11-26 with total page 427 pages. Available in PDF, EPUB and Kindle. Book excerpt: The complex landscape of breast cancer requires distinct strategies for the management of various molecular subtypes of this disease. Rapid advances in the field of molecular biology have been bewildering for those involved in its study and management. “Molecular Pathology of Breast Cancer” aims to close this knowledge gap by discussing comprehensively the evolution, biological basis and clinical applications with a focus on the “what, when, and how” of the most significant molecular markers known to date. These markers are evaluated in the context of genomic, transcriptomic and proteomic profiles, which is integral to the practice of precision medicine. The application of next generation sequencing (NGS) has provided new insights in the regulation of genomic and transcriptomic structure and function. Alterations in DNA such as mutations and single nucleotide polymorphisms (SNPs) have been correlated with outcomes and provide for novel therapeutic approaches. These NGS analyses have also revealed the extensive contributions of epigenetic mechanisms such as histone modifications, non-coding RNA and alternative splicing. All of these changes together contribute to alterations in proteome. Newer assays that allow greater stability and analytical consistency are emerging. These alterations in tumor profiles can be also now detected by imaging techniques. The heterogeneity of both tumor and tumor microenvironment, an inevitable reality, is discussed in detail with particular focus on cancer stem cells and immune signaling. A chapter is dedicated to the emerging technology of “liquid biopsy”, which opens a novel approach for “continuous” monitoring of cancer that might be superior to conventional diagnostics, “Molecular Pathology of Breast Cancer” provides a quick and easy, not to mention essential, tour for clinicians, pathologists and scientists who are seeking to understand the integration of molecular biology into the diagnosis, prognosis and management of breast cancer.

Advances in Cell and Molecular Diagnostics

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Publisher : Academic Press
ISBN 13 : 0128136804
Total Pages : 300 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Advances in Cell and Molecular Diagnostics by : P.B. Raghavendra

Download or read book Advances in Cell and Molecular Diagnostics written by P.B. Raghavendra and published by Academic Press. This book was released on 2018-01-02 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Cell and Molecular Diagnostics brings the scientific advances in the translation and validation of cellular and molecular discoveries in medicine into the clinical diagnostic setting. It enumerates the description and application of technological advances in the field of cellular and molecular diagnostic medicine, providing an overview of specialized fields, such as biomarker, genetic marker, screening, DNA-profiling, NGS, cytogenetics, transcriptome, cancer biomarkers, prostate specific antigen, and biomarker toxicologies. In addition, it presents novel discoveries and clinical pathologic correlations, including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, and the description or polymorphisms linked to disease states. This book is a valuable resource for oncologists, practitioners and several members of the biomedical field who are interested in understanding how to apply cutting-edge technologies into diagnostics and healthcare. - Encompasses the current scientific advances in the translation and validation of cellular and molecular discoveries into the clinical diagnostic setting - Explains the application of cellular and molecular diagnostics methodologies in clinical trials - Focuses on translating preclinical tests to the bedside in order to help readers apply the most recent technologies to healthcare

Diagnostic Molecular Pathology

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Publisher : Academic Press
ISBN 13 : 0128229934
Total Pages : 846 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Diagnostic Molecular Pathology by : William B. Coleman

Download or read book Diagnostic Molecular Pathology written by William B. Coleman and published by Academic Press. This book was released on 2023-10-18 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

Precision Cancer Medicine

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Publisher : Springer Nature
ISBN 13 : 3030236374
Total Pages : 196 pages
Book Rating : 4.0/5 (32 download)

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Book Synopsis Precision Cancer Medicine by : Sameek Roychowdhury

Download or read book Precision Cancer Medicine written by Sameek Roychowdhury and published by Springer Nature. This book was released on 2020-01-02 with total page 196 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomic sequencing technologies have augmented the classification of cancer beyond tissue of origin and towards a molecular taxonomy of cancer. This has created opportunities to guide treatment decisions for individual patients with cancer based on their cancer’s unique molecular characteristics, also known as precision cancer medicine. The purpose of this text will be to describe the contribution and need for multiple disciplines working together to deliver precision cancer medicine. This entails a multi-disciplinary approach across fields including molecular pathology, computational biology, clinical oncology, cancer biology, drug development, genetics, immunology, and bioethics. Thus, we have outlined a current text on each of these fields as they work together to overcome various challenges and create opportunities to deliver precision cancer medicine. As trainees and junior faculty enter their respective fields, this text will provide a framework for understanding the role and responsibility for each specialist to contribute to this team science approach.

Practical Oncologic Molecular Pathology

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Publisher : Springer Nature
ISBN 13 : 3030732274
Total Pages : 449 pages
Book Rating : 4.0/5 (37 download)

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Book Synopsis Practical Oncologic Molecular Pathology by : Yi Ding

Download or read book Practical Oncologic Molecular Pathology written by Yi Ding and published by Springer Nature. This book was released on 2021-07-10 with total page 449 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a review and high-yield reference on the clinical molecular diagnostics of malignant neoplasms. It aims to address the practical questions frequently encountered in the molecular oncology practice, as well as key points and pitfalls in the clinical interpretation of molecular tests in guiding precision cancer management. The text uses a Q&A format and case presentations, with emphasis on understanding the molecular test methods, diagnosis, classification, risk assessment and clinical correlation. Starting with an update on the molecular biology of cancer, the book focuses on the topics related to molecular diagnostics and genetics-based precision oncology. Separate chapters are dedicated to discussion of the bioinformatics for the analysis of genetic/genomic data generated from molecular assays, and quality control (QC)/quality assurance (QA) programs in the clinical laboratories; both are critical in producing high quality results for clinical care of cancer patients. These are followed by organ system-based reviews and discussions on the molecular genetic abnormalities and related tests covering diverse types of common to rare malignant neoplasms. This book also provides up-to-date knowledge related to malignant neoplasms, discusses the established as well as evolving requirements for pathologic diagnosis of these malignancies. It also discusses the cost effective utilization of molecular tests in clinical oncology. Written by experts in the field, Practical Oncologic Molecular Pathology serves as a valuable reference for practicing pathologists, fellows, residents and other health care professionals.

Evolution of Translational Omics

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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 in Cancer Patients

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Publisher : Springer
ISBN 13 : 981135877X
Total Pages : 339 pages
Book Rating : 4.8/5 (113 download)

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Book Synopsis Molecular Diagnostics in Cancer Patients by : Kamla Kant Shukla

Download or read book Molecular Diagnostics in Cancer Patients written by Kamla Kant Shukla and published by Springer. This book was released on 2019-03-15 with total page 339 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book aims to bring together a broad variety of examples of the role of pharmacogenomics in current drug development, uncovering dynamic concentration-dependent drug responses on biological systems to understand pharmacodynamics responses in human cancer where genetic lesions serve as tumor markers and provide a basis for cancer diagnosis. The book describes methods and protocols applied in molecular diagnostics. It offers pathologists and researchers providing molecular diagnostic services an array of the most recent and readily accessible reference to compare methods and techniques. Highlights include the molecular diagnosis of genetic aberrations by quantitative polymerase reaction (qPCR), sequence-specific oligonucleotide arrays, next-generation sequencing (NGS), CGH arrays-and methodologies directed at the detection of epigenetic events, high-throughput nucleic acid and protein arrays, direct sequencing and FISH-based methodologies, currently used in the diagnosis of solid tumors. The book also includes an innovative line of treatment in relation to the molecular prognosis, diagnosis and pharmacogenomics in the actual practice of clinical findings at molecular levels. The book covers the applications of numerous genetic testing methodologies; in approximately the chronological order of discovery and high-throughput diagnosis using advanced genomic approaches to identify such genes, in the search for novel drug targets and/or key determinants of drug reactions. It also promotes a wider understanding of molecular diagnostics among physicians, medical students, and scientists in academics, industry and corporate world.

Molecular Diagnostics: Promises and Possibilities

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Publisher : Springer Science & Business Media
ISBN 13 : 9048132614
Total Pages : 527 pages
Book Rating : 4.0/5 (481 download)

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Book Synopsis Molecular Diagnostics: Promises and Possibilities by : Mousumi Debnath

Download or read book Molecular Diagnostics: Promises and Possibilities written by Mousumi Debnath and published by Springer Science & Business Media. This book was released on 2010-01-29 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: A rapid development in diverse areas of molecular biology and genetic engineering resulted in emergence of variety of tools. These tools are not only applicable to basic researches being carried out world over, but also exploited for precise detection of abnormal conditions in plants, animals and human body. Although a basic researcher is well versed with few techniques used by him/her in the laboratory, they may not be well acquainted with methodologies, which can be used to work out some of their own research problems. The picture is more blurred when the molecular diagnostic tools are to be used by physicians, scientists and technicians working in diagnostic laboratories in hospitals, industry and academic institutions. Since many of them are not trained in basics of these methods, they come across several gray areas in understanding of these tools. The accurate application of molecular diagnostic tools demands in depth understanding of the methodology for precise detection of the abnormal condition of living body. To meet the requirements of a good book on molecular diagnostics of students, physicians, scientists working in agricultural, veterinary, medical and pharmaceutical sciences, it needs to expose the reader lucidly to: Give basic science behind commonly used tools in diagnostics Expose the readers to detailed applications of these tools and Make them aware the availability of such diagnostic tools The book will attract additional audience of pathologists, medical microbiologists, pharmaceutical sciences, agricultural scientists and veterinary doctors if the following topics are incorporated at appropriate places in Unit II or separately as a part of Unit-III in the book. Molecular diagnosis of diseases in agricultural crops Molecular diagnosis of veterinary diseases. Molecular epidemiology, which helps to differentiate various epidemic strains and sources of disease outbreaks. Even in different units of the same hospital, the infections could be by different strains of the same species and the information becomes valuable for infection control strategies. Drug resistance is a growing problem for bacterial, fungal and parasitic microbes and the molecular biology tools can help to detect the drug resistance genes without the cultivation and in vitro sensitivity testing. Molecular diagnostics offers faster help in the selection of the proper antibiotic for the treatment of tuberculosis, which is a major problem of the in the developing world. The conventional culture and drug sensitivity testing of tuberculosis bacilli is laborious and time consuming, whereas molecular diagnosis offers rapid drug resistant gene detection even from direct clinical samples. The same approach for HIV, malaria and many more diseases needs to be considered. Molecular diagnostics in the detection of diseases during foetal life is an upcoming area in the foetal medicine in case of genetic abnormalities and infectious like TORCH complex etc. The book will be equally useful to students, scientists and professionals working in the field of molecular diagnostics.

Promoting Safe and Effective Genetic Testing in the United States

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Publisher :
ISBN 13 :
Total Pages : 222 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Promoting Safe and Effective Genetic Testing in the United States by : Task Force on Genetic Testing (U.S.)

Download or read book Promoting Safe and Effective Genetic Testing in the United States written by Task Force on Genetic Testing (U.S.) and published by . This book was released on 1998-07-24 with total page 222 pages. Available in PDF, EPUB and Kindle. Book excerpt: In view of this uncertainty, the Working Group on Ethical, Legal, and Social Implications of Human Genome Research at the National Institutes of Health and Department of Energy created the Task Force on Genetic Testing.

Molecular Diagnosis of Cancer

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Publisher : Springer Science & Business Media
ISBN 13 :
Total Pages : 244 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Molecular Diagnosis of Cancer by : Finbarr E. Cotter

Download or read book Molecular Diagnosis of Cancer written by Finbarr E. Cotter and published by Springer Science & Business Media. This book was released on 1996 with total page 244 pages. Available in PDF, EPUB and Kindle. Book excerpt: Leading clinicians and expert researchers bring together under one cover a comprehensive guide to the newest and most essential molecular techniques-particularly PCR-for diagnosing and monitoring hematological and solid tumors. These distinguished practitioners demonstrate step-by-step the use of PCR, FISH, CGH, Southern analysis, sequencing, and SSCP to assess cancer markers, to detect minimal disease and apoptosis, and to uncover particular translocations, mutations, and deletions. Their readily reproducible results offer physicians and scientists a promising entré into the powerful possibilities of using these techniques to improve the diagnosis, prognosis, and management of cancer.