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

Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.

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

The Human Genome Project has triggered a technological revolution that has influenced nearly every field of medicine, including reproductive medicine, obstetrics, gynecology, andrology, prenatal genetic testing, and gene therapy. This second edition of Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies offers a thorough, timely discussion of ethical issues raised by the latest genetic and genomic technologies applied in human reproductive and prenatal medicine, providing practical recommendations, guidelines, and algorithms to support ethical clinical practice. Here, international experts consider the ethics of technologies from preconception carrier screening to genetic engineering, CRISPR gene editing, mitochondrial gene replacement therapy, sex selection, predictive testing, secondary findings, embryo reduction, and the moral status of the embryo, genetic enhancement, and the sharing of genetic data. Throughout the book, contributors adopt a global, holistic perspective on applied challenges and the moral questions around the implementation of genetic reproductive technologies. The book is an ideal resource for practitioners, regulators, lawmakers, clinical researchers, genetic counselors, and graduate and medical students.This fully updated second edition examines new developments in the field, tackling ethical aspects of organoid development, recent advances in pharmacogenomics, direct-to-consumer genetic testing, and genetic engineering. • Provides practical analysis of the ethical issues raised by cutting-edge techniques and recent advances in prenatal and reproductive geneticsContains contributions from leading bioethicists and clinicians who offer a global, holistic perspective on applied challenges and moral questions relating to genetic and genomic reproductive technology• Discusses preconception carrier screening, genetic engineering, and the use of CRISPR gene editing, mitochondrial gene replacement therapy, and ethical issues, among others• Considers ethical aspects of recent advances and new technologies in the field, from organoid development to pharmacogenomics and direct-to-consumer genetic testing

A practical, dynamic resource for practicing neurologists, clinicians and trainees, Bradley and Daroff's Neurology in Clinical Practice, Eighth Edition, offers a straightforward style, evidence-based information, and robust interactive content supplemented by treatment algorithms and images to keep you up to date with all that's current in this fast-changing field. This two-volume set is ideal for daily reference, featuring a unique organization by presenting symptom/sign and by specific disease entities—allowing you to access content in ways that mirror how you practice. More than 150 expert contributors, led by Drs. Joseph Jankovic, John C. Mazziotta, Scott L. Pomeroy, and Nancy J. Newman, provide up-to-date guidance that equips you to effectively diagnose and manage the full range of neurological disorders. - Covers all aspects of today's neurology in an easy-to-read, clinically relevant manner. - Allows for easy searches through an intuitive organization by both symptom and grouping of diseases. - Features new and expanded content on movement disorders, genetic and immunologic disorders, tropical neurology, neuro-ophthalmology and neuro-otology, palliative care, pediatric neurology, and new and emerging therapies. - Offers even more detailed videos that depict how neurological disorders manifest, including EEG and seizures, deep brain stimulation for PD and tremor, sleep disorders, movement disorders, ocular oscillations, EMG evaluation, cranial neuropathies, and disorders of upper and lower motor neurons, as well as other neurologic signs. - Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

Genomic and Precision Medicine: Foundations, Translation, and Implementation highlights the various points along the continuum from health to disease where genomic information is impacting clinical decision-making and leading to more personalization of health care. The book pinpoints the challenges, barriers, and solutions that have been, or are being, brought forward to enable translation of genome based technologies into health care. A variety of infrastructure (data systems and EMRs), policy (regulatory, reimbursement, privacy), and research (comparative effectiveness research, learning health system approaches) strategies are also discussed. Readers will find this volume to be an invaluable resource for the translational genomics and implementation science that is required to fully realize personalized health care. - Provides a comprehensive volume on the translation and implementation of biology into health care provision - Presents succinct commentary and key learning points that will assist readers with their local needs for translation and implementation - Includes an up-to-date overview on major 'translational events' in genomic and personalized medicine, along with lessons learned

Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. - Fills the gap between state-of-the-art technology and evidence-based practice - Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment - Promotes a practical tool that clinicians can apply directly to patient care - Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases - Presents evidence regarding the important role of NGS in current diagnostic strategies

The book provides complete information on the cornerstones of precision medicine through the omics approach. Clinical applications of genomics and precision medicine have progressed from a theoretical wish list to an impactful force in medical practice.Step-by-step descriptions are provided from basics to the future application and its benefit in clinical practice. Precision medicine aims to personalize health care by tailoring decisions and treatments to each individual in every possible way. Precision medicine includes pharmacogenomics. Essential information is provided on the role of precision medicine and pharmacogenomics in the clinical practice of cancer, cardiovascular disease, diabetes, psychiatric disease, and also the importance for healthcare professionals. This book will assist the practitioners how to integrate precision medicine and pharmacogenomics data into their clinical practice. It is hoped that physicians, pharmacists, and scientists with basic scientific knowledge of precision medicine will findthis book useful.

Genetic disorders have been the focus of scientists for a long time. The emergence of next-generation sequencing techniques has ushered a new era in genetics and several developments have occurred in human genetics. The scientific perspective has also been widened with omics technologies that allow researchers to analyze genetic sequences and their expression products. An integrated approach is being used not only for diagnosis but also for disease management and therapeutic purposes. This book highlights emerging areas of omics technology and its application in the diagnosis and management of human genetic disorders. The book covers three areas of research and implementation: 1) Diagnosis (covering conventional strategies to next-generation platforms). This section focuses on the role of in silico analysis, databases and multi-omics of single-cell which will help in designing better management strategies. 2) Disease Management and therapeutic interventions. This section starts with genetic counselling and progresses to more specific techniques such as pharmacogenomics and personalized medicine, gene editing techniques and their applications in gene therapies and regenerative medicine. 3) Case studies. This section discusses the applications and success of all the above-mentioned strategies on selected human disorders. This book serves as a handy reference for students and academics studying advanced omics techniques in biochemistry and molecular genetics as part of courses in life sciences, pharmacology and medicine.