Clinical Genomics Practical Applications For Adult Patient Care
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Michael F. Murray (Physician),Mark Babyatski, MD,Monica A. Giovanni,Fowzan S. Alkuraya,Douglas R. Stewart
Author : Michael F. Murray (Physician),Mark Babyatski, MD,Monica A. Giovanni,Fowzan S. Alkuraya,Douglas R. Stewart Publisher : McGraw Hill Professional Page : 960 pages File Size : 45,6 Mb Release : 2013-11-07 Category : Medical ISBN : 9780071622448
Clinical Genomics: Practical Applications for Adult Patient Care by Michael F. Murray (Physician),Mark Babyatski, MD,Monica A. Giovanni,Fowzan S. Alkuraya,Douglas R. Stewart Pdf
The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.
National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Genomics and Precision Health
Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Genomics and Precision Health Publisher : National Academies Press Page : 151 pages File Size : 49,6 Mb Release : 2018-05-16 Category : Medical ISBN : 9780309473446
Implementing and Evaluating Genomic Screening Programs in Health Care Systems by National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Genomics and Precision Health Pdf
Genomic applications are being integrated into a broad range of clinical and research activities at health care systems across the United States. This trend can be attributed to a variety of factors, including the declining cost of genome sequencing and the potential for improving health outcomes and cutting the costs of care. The goals of these genomics-based programs may be to identify individuals with clinically actionable variants as a way of preventing disease, providing diagnoses for patients with rare diseases, and advancing research on genetic contributions to health and disease. Of particular interest are genomics- based screening programs, which will, in this publication, be clinical screening programs that examine genes or variants in unselected populations in order to identify individuals who are at an increased risk for a particular health concern (e.g., diseases, adverse drug outcomes) and who might benefit from clinical interventions. On November 1, 2017, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to explore the challenges and opportunities associated with integrating genomics-based screening programs into health care systems. This workshop was developed as a way to explore the challenges and opportunities associated with integrating genomics-based programs in health care systems in the areas of evidence collection, sustainability, data sharing, infrastructure, and equity of access. This publication summarizes the presentations and discussions from the workshop.
Author : Paul D. Thompson,Beth A. Taylor Publisher : Springer Nature Page : 191 pages File Size : 48,8 Mb Release : 2020-01-25 Category : Medical ISBN : 9783030333041
Statin-Associated Muscle Symptoms by Paul D. Thompson,Beth A. Taylor Pdf
This book provides an overview of statin-associated muscle symptoms (SAMS) from clinical presentation to treatment and possible metabolic causes. It examines the risk factors, presentations, diagnosis and differential diagnosis, clinical management, and financial costs of SAMS. The book also highlights patients’ perspectives on SAMS such as the psychosocial, emotional, and societal factors influencing their perceptions and experiences. Finally, the book presents the results of observational and clinical trials on the prevalence of SAMS, clinical trials for treatments, and potential future research approaches for improving the understanding and treatment of SAMS. A key addition to the Contemporary Cardiology series, Statin-Associated Muscle Symptoms is an essential resource for physicians, medical students, residents, fellows, and allied health professionals in cardiology, endocrinology, pharmacotherapy, primary care, and health promotion and disease prevention.
Case Studies in Geriatric Primary Care & Multimorbidity Management - E-Book by Karen Dick,Terry Mahan Buttaro Pdf
Gain expertise in primary care of older adults with a case-based approach to geriatric primary care and multimorbidity management. Written by two leading academic and clinical experts in geriatric primary care, Case Studies in Geriatric Primary Care and Multimorbidity Management, 1st Edition uses detailed Exemplar Case Studies and Practice Case Studies to teach you how to think like an expert geriatric clinician. Because most older adults have more than one condition when seeking care, both Exemplar and Practice Case Studies place a strong emphasis on "multimorbidity" management, (the management of patients with a host of complex, interacting conditions). To provide extensive practice in learning how to think like an expert, case studies reflect the reality that care does not necessarily begin or end in the primary care setting. Cases therefore move fluidly from primary care to acute care to inpatient rehabilitation to assisted living to long-term care. Building on foundational introductory chapters, cases also call on you to develop interprofessional collaboration skills and reflect the diversity of today's older adults, in terms of age (young-old to old-old), gender, culture, ethnicity, sexuality, socioeconomic status, and more! As you work through both basic-level and advanced Practice Case Studies, you can make extensive notes in the printed book and then go online to submit answers for grading and receive expert feedback for self-reflection. NEW! Introductory unit on the core principles of caring for older adults gives you a strong foundation in the principles of geriatric primary care and multimorbidity management. NEW! and UNIQUE! Exceptionally detailed, unfolding Exemplar Case Studies demonstrate how an expert advanced practitioner "thinks clinically" to provide care to older adults with multiple conditions. NEW and UNIQUE! Exceptionally detailed, unfolding Practice Case Studies emphasize patient diversity and multimorbidity management across healthcare settings to help you develop advanced clinical reasoning skills for geriatric primary care. NEW and UNIQUE! Strong emphasis on multimorbidity management focuses on caring for older adults with multiple chronic conditions. NEW! Emphasis on the continuum of care across settings reflects the reality that care does not necessarily begin or end in the primary care setting but can move from primary care to acute care to inpatient rehabilitation to assisted living to long-term care, and so forth. NEW! Online answer submission for grading and expert feedback for self-reflection. NEW! Emphasis on patient diversity reflects the makeup of today's older adult, population in terms of age (young-old to old-old), gender, culture, ethnicity, sexuality, socioeconomic status, and more. NEW! Emphasis on interprofessional collaboration use Exemplar Case Studies and Practice Case Studies to allow you to demonstrate your interprofessional collaboration skills.
Handbook of Clinical Adult Genetics and Genomics by Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble Pdf
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
Geriatric Notes by Jamie W. Smith,Bradley J. Goad Pdf
Geriatric Notes is an essential quick reference for the advanced practice provider (APP) who provides care to elders in the outpatient setting, such as nursing homes, family practice, or home health. With a practical, accessible, and concise approach, it offers an easy to understand overview of the most common diagnoses, topics, and symptoms encountered in the aging population. Designed to offer access to the basics, this guide provides tables and bullet points for easy reference. Sections include health promotion, neurology and psychiatry, cardiovascular, pulmonary, gastroenterology, genitourinary, rheumatology, dermatology, endocrinology, labs, Beers list, and common presentations.
Retinitis Pigmentosa by Stephen H. Tsang,Peter M.J. Quinn Pdf
This volume details the history of Retinitis Pigmentosa and current treatment options. Chapters guide readers through CRISPR, gene therapy, stem cell therapy, next-generation sequencing methods, gene editing, and translational applications of other therapies to the treatment of Retinitis Pigmentosa. Written in the successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Retinitis Pigmentosa aims to be a useful practical guide to researches to help further their study in this field.
Goldman-Cecil Medicine E-Book by Lee Goldman,Andrew I. Schafer Pdf
To be the best doctor you can be, you need the best information. For more than 90 years, what is now called Goldman-Cecil Medicine has been the authoritative source for internal medicine and the care of adult patients. Every chapter is written by acclaimed experts who, with the oversight of our editors, provide definitive, unbiased advice on the diagnosis and treatment of thousands of common and uncommon conditions, always guided by an understanding of the epidemiology and pathobiology, as well as the latest medical literature. But Goldman-Cecil Medicine is not just a textbook. Throughout the lifetime of each edition, periodic updates continually include the newest information from a wide range of journals. Furthermore, Goldman-Cecil Medicine is available for all users of ClinicalKey, Elsevier’s full library of subspecialty textbooks that can be accessed by readers who may want even more in-depth information. More than 400 chapters authored by a veritable "Who’s Who" of modern medicine A practical, templated organization with an emphasis on evidence-based references Thousands of algorithms, figures, and tables that make its information readily accessible Supplemented by over 1500 board-style questions and answers to help you prepare for certification and recertification examinations
Genomics by Hans C. Andersson, MD,Whitney Stewart Pdf
Over the past 50 years, scientists have made incredible progress in the application of genetic research to human health care and disease treatment. Innovative tools and techniques, including gene therapy and CRISPR-Cas9 editing, can treat inherited disorders that were previously untreatable, or prevent them from happening in the first place. You can take a DNA test to learn where your ancestors are from. Police officers can use genetic evidence to identify criminals—or innocents. And some doctors are using new medical techniques for unprecedented procedures. Genomics: A Revolution in Health and Disease Discovery delves into the history, science, and ethics behind recent breakthroughs in genetic research. Authors Whitney Stewart and Hans Andersson, MD, present fascinating case studies that show how real people have benefitted from genetic research. Though the genome remains full of mysteries, researchers and doctors are working hard to uncover its secrets and find the best ways to treat patients and cure diseases. The discoveries to come will inform how we target disease treatment, how we understand our health, and how we define our very identities.
Clinical Precision Medicine by Judy S. Crabtree Pdf
Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics Features chapter contributions from leaders in the field Consolidates fundamental concepts and current practices of precision medicine in one convenient resource
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody Pdf
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
Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Publisher : National Academies Press Page : 126 pages File Size : 52,8 Mb Release : 2014-08-19 Category : Medical ISBN : 9780309304979
Assessing Genomic Sequencing Information for Health Care Decision Making by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf
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.
Genomics in the Clinic by Antonie D. Kline,Ethylin Wang Jabs Pdf
Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine. Clearly explains central concepts of genetic testing and genomic medicine for non-genetic physicians, healthcare providers, and trainees Offers clear steps for clinical integration of genetic concepts, genomic technology, and interpretation of genetic test results approachable and relevant to clinical practice Descriptive, applied case studies illustrate recommended genetic evaluation, counseling and management for a range of conditions throughout the lifetime
Realizing the Promise of Precision Medicine by Paul Cerrato,John Halamka Pdf
Realizing the Promise of Precision Medicine: The Role of Patient Data, Mobile Technology, and Consumer Engagement explains the potential of personalized medicine and the value of those approaches in making that potential a reality. The book helps transform one-size-fits-all healthcare into a system that focuses on individual needs and the unique needs of each family member, discussing topics such as U.S. sponsored precision medicine initiative, genomics, the role of electronic health records and mobile medicine, patient engagement and empowerment, health information exchange and patient data protection. In addition, the book discusses the barriers and limitations of precision medicine and how to overcome them. Readers will find valuable insights into how big data, patient engagement, mobile technology, and genomics help individualize medical care and offer a pathway to help detect many undiscovered causes of diseases. Provides drawings and flow charts to help readers visualize the breadth and depth of precision medicine Includes sidebars with more details on specific topics for a complementary, deeper understanding of the main text Uses case studies to turn abstract concepts into flesh and blood examples of how personalized medicine benefits patients
