Clinical Genomics Practical Applications For Adult Patient Care

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.

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

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.

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

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.

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.

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.