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Genomics in the Clinic

Genomics in the Clinic
  • Author : Ethylin Wang Jabs,Antonie D. Kline
  • Publisher :Unknown
  • Release Date :2020-06
  • Total pages :200
  • ISBN : 0128164786
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Summary : Genomics to the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling clearly explains central concepts of clinical genomic medicine and testing for non-geneticist clinicians and healthcare affiliates of various types, including pediatricians, internists, general practitioners, family medicine doctors, obstetricians and gynecologists, oncologists and pharmacists. Readers will learn to make appropriate genetic referrals, prepare patients for genetic consultation and testing results, understand basic genetic testing methods and nomenclature, and become versed in the ethical, legal and psychosocial aspects of genomic medicine. Essential topics include clinical genetic testing, genetic consultation and referrals, ELSI in genomic medicine, genetic diagnosis, and prenatal testing. Descriptive, applied case studies also examine a range of genetic conditions and testing methods, putting these concepts and approaches into practice. With its focus on accessible instruction, full-color imagery, and real-world application, this book prepares clinicians and healthcare providers of all types for a new age of genomic and precision-based medicine. Provides a well-balanced author team, including an experienced clinical geneticist and genetic counselor who cover essential topics in an accessible, easy-to-follow format Includes applied case studies that examine recommended protocols for a range of genetic conditions Makes genetic and genomic concepts, technology, and interpretation of genetic test results approachable and relevant to clinical practice, with clear steps for clinical integration

Clinical Genomics

Clinical Genomics
  • Author : Shashikant Kulkarni,John Pfeifer
  • Publisher :Unknown
  • Release Date :2014-11-10
  • Total pages :488
  • ISBN : 9780124051737
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Summary : 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

The Genome Odyssey

The Genome Odyssey
  • Author : Dr. Euan Angus Ashley
  • Publisher :Unknown
  • Release Date :2021-02-23
  • Total pages :352
  • ISBN : 9781250234971
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Summary : In The Genome Odyssey, Dr. Euan Ashley, Stanford professor of medicine and genetics, brings the breakthroughs of precision medicine to vivid life through the real diagnostic journeys of his patients and the tireless efforts of his fellow doctors and scientists as they hunt to prevent, predict, and beat disease. Since the Human Genome Project was completed in 2003, the price of genome sequencing has dropped at a staggering rate. It’s as if the price of a Ferrari went from $350,000 to a mere forty cents. Through breakthroughs made by Dr. Ashley’s team at Stanford and other dedicated groups around the world, analyzing the human genome has decreased from a heroic multibillion dollar effort to a single clinical test costing less than $1,000. For the first time we have within our grasp the ability to predict our genetic future, to diagnose and prevent disease before it begins, and to decode what it really means to be human. In The Genome Odyssey, Dr. Ashley details the medicine behind genome sequencing with clarity and accessibility. More than that, with passion for his subject and compassion for his patients, he introduces readers to the dynamic group of researchers and doctor detectives who hunt for answers, and to the pioneering patients who open up their lives to the medical community during their search for diagnoses and cures. He describes how he led the team that was the first to analyze and interpret a complete human genome, how they broke genome speed records to diagnose and treat a newborn baby girl whose heart stopped five times on the first day of her life, and how they found a boy with tumors growing inside his heart and traced the cause to a missing piece of his genome. These patients inspire Dr. Ashley and his team as they work to expand the boundaries of our medical capabilities and to envision a future where genome sequencing is available for all, where medicine can be tailored to treat specific diseases and to decode pathogens like viruses at the genomic level, and where our medical system as we know it has been completely revolutionized.

Applied Genomics in the Clinic

Applied Genomics in the Clinic
  • Author : Laura Gribaldo,Birep Sadiye Aygun,Ugur Özbek,Ewa Stepien,Ahmet Yesilyurt,Theodor Zamfirov,Angela Brand,Jeremy Sujie Cao,Irena Drmic Hofman,Simona Dumitriu,Marco Fabbri,Francesca Romana Grati,Sibel Aylin Ugur Iseri,Leyla Kapur-Pojskić,Ilker Karacan,Chris Junnian Liu,Pinar Uysal Onganer,Institute for Health and Consumer Protection
  • Publisher :Unknown
  • Release Date :2013
  • Total pages :184
  • ISBN : 9279327259
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Summary : Within the context of JRC Enlargement and Integration Activities (E&IA), the workshop "Applied genomics in the Clinic" was organised in Istanbul on 17-19 October 2012. The main aim of the workshop was to get an overview of the state of the art of applied genomics in the clinical context in accession and candidate countries, as well as new members, to share best practices in EU and to evaluate these in the light of a public health perspective. There is a clear divide behind the genomic services offered in a country and the awareness among research scientists of the available genomic applications and the future impact of genomic technologies on health services and clinical approaches. In all countries there are a number of common obstacles that delay penetration of genomic technologies in clinical applications : lack of recognised experts ( medical genetics HAS to be recognised as a medical specialty) lack of a regulatory framework that involves political determination of decision makers, lack of common databases on methods and experts, lack of ongoing education for physicians and most importantly reimbursement of testing. Stronger connections and collaborations with the EU for research and technology transfer will function as a leverage for these countries in adopting genomic tools and harmonising the quality of healthcare services they offer. It is very important to establish recognized objective state of the art guidelines for application of genomic technologies in clinical practice. Such guidelines adopted by countries will form the basis of reimbursement policies at national and cross border levels. In addition establishing reliable, not for profit, open access databases for building reference datasets for correct and efficient interpretation of complex data generated by advanced genomic technologies will speed up adoption of the technology in the clinic.

Clinical Genome Sequencing

Clinical Genome Sequencing
  • Author : Aad Tibben,Barbara B. Biesecker
  • Publisher :Unknown
  • Release Date :2019-03-30
  • Total pages :258
  • ISBN : 9780128133361
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Summary : Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine. Features contributions from leading international researchers and practitioners versed in the psychosocial dimensions of genomic medicine implementation Presents clinical case studies that support concept illustration, making this an invaluable reference for students, researchers, and clinicians looking for practical guidance in this important and multifaceted topic area Details the current state of genomic testing, expectations of genome sequencing, patient consent, patient responses to sequencing data, uncertainties in genome sequencing, direct-to-consumer genome sequencing, and more

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
  • Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
  • Publisher :Unknown
  • Release Date :2020-09-30
  • Total pages :790
  • ISBN : 9780128126837
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Summary : 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 nearly 5,000 pages of detailed coverage, 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. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field

Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics
  • Author : Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
  • Publisher :Unknown
  • Release Date :2020-04-10
  • Total pages :534
  • ISBN : 9780128173459
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Summary : Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

Clinical Genomics: Practical Applications for Adult Patient Care

Clinical Genomics: Practical Applications for Adult Patient Care
  • Author : Michael T. Murray,Mark Babyatski,Monica Giovanni
  • Publisher :Unknown
  • Release Date :2013-10-22
  • Total pages :608
  • ISBN : 9780071810593
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Summary : Convert the latest genomic data to the most effective patient management and treatment approaches Clinical Genomics helps healthcare providers translate the vast amount of new genomic data into successful clinical application. It is a comprehensive textbook and practical guide to the use of this information across a broad spectrum of adult diseases – from individual differences in drug responses, cardiac and cancer risks to Alzheimer's and other neurological and psychiatric disorders. While traditional textbooks on medical genetics focus on classic Mendelian disorders, Clinical Genomics discusses the everyday application of genetic assessment and the diagnostic, therapeutic, and preventive implications to the most common adult diseases that healthcare providers encounter. Covering approximately 200 conditions, it is a true clinical text for use across all of internal medicine. Coverage of each condition is presented in a consistent, clinically relevant manner and includes: Key Points Diagnostic Criteria and Clinical Characteristics Screening and C ounseling Management and Treatment Molecular Genetics and Molecular Mechanism Supplementary Information More than ten valuable appendices, include Genetic Privacy; Race, Ancestry, and Genetics; Personalized Medicine in Clinical Practice; Clinical Interpretation of Genomic Data; and Genetic Risk Profiling in the Genomics Era. Clinical Genomics is essential for internists, primary care physicians, and other healthcare providers who wish to increase their knowledge of the gene-and-protein level care of patients in a clinical setting.

Genomic Medicine

Genomic Medicine
  • Author : Dhavendra Kumar,Charis Eng
  • Publisher :Unknown
  • Release Date :2014
  • Total pages :814
  • ISBN : 9780199896028
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Summary : Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Routledge Handbook of Genomics, Health and Society

Routledge Handbook of Genomics, Health and Society
  • Author : Sahra Gibbon,Barbara Prainsack,Stephen Hilgartner,Janelle Lamoreaux
  • Publisher :Unknown
  • Release Date :2018-04-17
  • Total pages :316
  • ISBN : 9781315451671
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Summary : The Handbook provides an essential resource at the interface of Genomics, Health and Society, and forms a crucial research tool for both new students and established scholars across biomedicine and social sciences. Building from and extending the first Routledge Handbook of Genetics and Society, the book offers a comprehensive introduction to pivotal themes within the field, an overview of the current state of the art knowledge on genomics, science and society, and an outline of emerging areas of research. Key themes addressed include the way genomic based DNA technologies have become incorporated into diverse arenas of clinical practice and research whilst also extending beyond the clinic; the role of genomics in contemporary ‘bioeconomies’; how challenges in the governance of medical genomics can both reconfigure and stabilise regulatory processes and jurisdictional boundaries; how questions of diversity and justice are situated across different national and transnational terrains of genomic research; and how genomics informs – and is shaped by – developments in fields such as epigenetics, synthetic biology, stem cell, microbial and animal model research. Presenting cutting edge research from leading social science scholars, the Handbook provides a unique and important contribution to the field. It brings a rich and varied cross disciplinary social science perspective that engages with both the history and contemporary context of genomics and ‘post-genomics’, and considers the now global and transnational terrain in which these developments are unfolding.

Genomic Medicine in Emerging Economies

Genomic Medicine in Emerging Economies
  • Author : George Patrinos,Catalina Lopez-Correa
  • Publisher :Unknown
  • Release Date :2018-06-29
  • Total pages :204
  • ISBN : 9780128115510
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Summary : Genomic Medicine in Resource-limited Countries: Genomics for Every Nation provides in-depth analysis and key examples of the implementation of medical genomics in low-income nations across the globe, demonstrating how this advancing medical science has not only transformed health systems, but also led to improved patient care in Indonesian, Nepalese, Chilean, Malaysian, Tanzanian, Argentinian, Chinese, Sri Lankan and Columbian populations, among others. In addition to defining tools, diagnostics and treatment pathways at the population-wide level for medical geneticists, genomic researchers and public health workers, this book offers a case-study based approach that helps users understand how genomic medicine is used in disease-management. Examines essential concepts and protocols, and economic, social and legal considerations related to the implementation of genomic medicine in resource-limited nations Features concrete success stories of the implementation of medical genomics in Indonesian, Nepalese, Chilean, Malaysian, Tanzanian, Argentinian, Chinese, Sri Lankan and Columbian populations, amongst others Provides tools, diagnostics and treatment pathways for medical geneticists, genomic researchers and public health workers to apply in their own work Establishes clear precedents on how genomic technologies can be accessed by nations with limited means and financial support for healthcare

Assessing Genomic Sequencing Information for Health Care Decision Making

Assessing Genomic Sequencing Information for Health Care Decision Making
  • Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
  • Publisher :Unknown
  • Release Date :2014-08-19
  • Total pages :126
  • ISBN : 9780309304979
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Summary : 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.

Personal Genomics in the Clinic and Beyond: Ethical Challenges and Controversies

Personal Genomics in the Clinic and Beyond: Ethical Challenges and Controversies
  • Author : Eftychia Vayena
  • Publisher :Unknown
  • Release Date :2014
  • Total pages :229
  • ISBN : OCLC:955509194
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Summary :

Clinical Implementation of Next-generation Sequencing Technologies in France and Quebec

Clinical Implementation of Next-generation Sequencing Technologies in France and Quebec
  • Author : Gabrielle Bertier
  • Publisher :Unknown
  • Release Date :2019
  • Total pages :229
  • ISBN : OCLC:1112735144
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Summary : "The decreasing cost of next-generation sequencing (NGS) technologies has resulted in their increased use in research, and in the clinical context. Indeed, the correct interpretation of a human genome can enable better prevention, diagnosis and treatment strategies. Significant public investments in NGS have been made in developed nations to realise the promise of personalized medicine. Yet, today the sequencing and analysis of a patient's exome or genome is only offered as a clinical test in a few clinics around the world. France and Quebec have made sizable investments in genomics research, and France announced the launch of a genomic medicine plan in 2016. However, policy decisions still have to be made on the nation-wide clinical implementation of NGS technologies in both jurisdictions. Therefore, this project's objective was to contribute to the body of evidence available to policymakers in France and Quebec on the clinical implementation of NGS technologies. We focused our attention on two specific NGS technologies, namely Whole Genome Sequencing (WGS), and Whole Exome Sequencing (WES). We specifically aimed to assess if the responsible and efficient use of WES/WGS data in the context of clinical care could be impeded by policy gaps. Currently, the clinical interpretation of a patient's genome sequence data is done through the intervention of many stakeholders including basic science researchers. These researchers use bioinformatics tools, processes and norms developed for research to filter and analyse patients NGS data. In parallel, existing regulatory and normative frameworks have been developed for the use of genetic data, and include no clear definition of genomic data or genomic technologies. We hypothesised that these elements create a strong need for standardization of practices, and may require adaptations of current regulatory and normative frameworks to the context of NGS. We therefore aimed to answer three research questions: (1) What issues do technology users experience and foresee when using WES data to inform patient care? To answer this, we performed a systematic review of the literature.(2) How are patients' NGS data currently managed (produced, analysed, interpreted and shared) in clinical institutions in Quebec and in France? We answered this by performing a case studies analysis, interrogating key stakeholders directly involved in managing patients' NGS data in France and Quebec. (3) Are there gaps in the current regulatory and normative frameworks which should be addressed to enable a responsible and efficient standardized use of NGS data in the clinic? To answer this, we performed a narrative review of the currently applicable normative frameworks in France and in Quebec.In our systematic literature review, we identified 23 distinct challenges linked to the production, analysis, reporting and sharing of patients' WES data. We also found that technology users were calling for practices to be more standardized before NGS was offered as a clinical test, and that numerous infrastructural adjustments had to be made in order for healthcare institutions to accommodate the vase amounts of highly complex NGS data. Through our case study analysis, we showed that in addition to managing the various levels of complexities of producing, analysing and sharing complex NGS data, a significant buy-in from numerous stakeholders was necessary in order to offer clinical genomics to patients. At the National level, this cannot be done without a strong political will. Finally, through our normative frameworks analysis, we concluded that existing frameworks were highly protective of patients and research participants, and could need marginal adjustments in order to accommodate for NGS tests. However, we also concluded that clinical genomics could not be realized without political will, and sustained monetary and infrastructural investments, which are only partly present at the moment in France and Quebec." --

Genomics and Health in the Developing World

Genomics and Health in the Developing World
  • Author : Dhavendra Kumar
  • Publisher :Unknown
  • Release Date :2012-05-11
  • Total pages :1536
  • ISBN : 9780199705474
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Summary : Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.

Practical Genomics for Clinical Ophthalmology

Practical Genomics for Clinical Ophthalmology
  • Author : Jane Ashworth,Graeme C.M. Black,Bart P. Leroy
  • Publisher :Unknown
  • Release Date :2019-08-15
  • Total pages :544
  • ISBN : 0128139447
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Summary : Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader

Genomic and Personalized Medicine

Genomic and Personalized Medicine
  • Author : Anonim
  • Publisher :Unknown
  • Release Date :2012-10-30
  • Total pages :1350
  • ISBN : 9780123822284
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Summary : 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

Cardiovascular Genomics

Cardiovascular Genomics
  • Author : Mohan K. Raizada,Julian F. R. Paton,Michael J. Katovich,Sergey Kasparov
  • Publisher :Unknown
  • Release Date :2008-02-24
  • Total pages :362
  • ISBN : 9781592598830
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Summary : Recognized scientists and clinicians from around the world discuss the most recent molecular approaches to understanding the cardiovascular system in both health and disease. The authors focus on all components of the system, including blood vessels, heart, kidneys, and the brain, and cover disease states ranging from vascular and cardiac dysfunction to stroke and hypertension. The methods described for identifying the genes that cause susceptibility to cardiovascular diseases emphasize the possibility of discovering new drug targets. Authoritative and ground-breaking, Cardiovascular Genomics offers an unprecedented examination of both the cutting-edge scientific approaches now possible and the results obtained from them in the new science of cardiovascular genomics.

Cancer Genomics for the Clinician

Cancer Genomics for the Clinician
  • Author : Ramaswamy Govindan, MD,Ashiq Masood, MD
  • Publisher :Unknown
  • Release Date :2019-01-28
  • Total pages :184
  • ISBN : 9780826168689
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Summary : Cancer Genomics for the Clinician is a practical guide to cancer genomics and its application to cancer diagnosis and care. The book begins with a brief overview of the various types of genetic alterations that are encountered in cancer, followed by accessible and applicable information on next generation sequencing technology and bioinformatics; tumor heterogeneity; whole genome, exome, and transcriptome sequencing; epigenomics; and data analysis and interpretation. Each chapter provides essential explanations of concepts, terminology, and methods. Also included are tips for interpreting and analyzing molecular data, as well as a discussion of molecular predictors for targeted therapies covering hematologic malignancies and solid tumors. The final chapter explains the use of FDA-approved genomic-based targeted therapies for breast cancer, lung cancer, sarcomas, gastrointestinal cancers, urologic cancers, head and neck cancer, thyroid cancer, and many more. Assembled in an accessible format specifically designed for the non-expert, this book provides the clinical oncologist, early career practitioner, and trainee with an essential understanding of the molecular and genetic basis of cancer and the clinical aspects that have led to advancements in diagnosis and treatment. With this resource, physicians and trainees will increase their breadth of knowledge and be better equipped to educate patients and families who want to know more about their genetic predispositions to cancer and the targeted therapies that could be considered and prescribed. Key Features: Describes how cancer genomics and next generation sequencing informs cancer screening, risk factors, therapeutic options, and clinical management across cancer types Explains what mutations are, what tests are needed, and how to interpret the results Provides information on FDA-approved targeted therapies that are being used in the clinic Covers different sequencing platforms and technologies and how they perform in research settings Includes access to the fully searchable eBook

Precision Medicine: A Guide to Genomics in Clinical Practice

Precision Medicine: A Guide to Genomics in Clinical Practice
  • Author : Jeanette J. McCarthy,Bryce A. Mendelsohn
  • Publisher :Unknown
  • Release Date :2017-01-05
  • Total pages :304
  • ISBN : 9781259644146
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Summary : Incorporate genomics into every applicable area of your clinical practice with this complete how-to guide Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice. Features that make this book valuable to every practice: •Intentionally avoids excessive technical content and consistently emphasizes real-life patient care and decision support •Follows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stage •Organization allows healthcare providers to quickly and easily find the information relevant to their practice. •The authors highlight common pitfalls – technical and ethical – that might complicate the delivery of quality genomic healthcare •Enhanced by eleven valuable appendices that cover important topics ranging from the basics of genetics to ethical issues to regulation and reimbursement If you are searching for a clinically relevant, non-technical resource that will teach you how genomic medicine can and should be practiced in your specific field of interest, Precision Medicine: A Guide to Genomics in Clinical Practicebelongs on your desk.

Breast Cancer Genes and the Gendering of Knowledge

Breast Cancer Genes and the Gendering of Knowledge
  • Author : Sahra Gibbon
  • Publisher :Unknown
  • Release Date :2006-12-14
  • Total pages :221
  • ISBN : 9780230626553
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Summary : The book examines the social and cultural context of new genetic knowledge associated with breast cancer. It looks at how this knowledge and technologies are used and received in two contrasting social arenas - cancer genetic clinics and a breast cancer research charity.