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

Large databases are created by genomics for the discovery, study, and development of novel treatments all around the world. It's not hard to conceive that artificial intelligence (AI) might currently study the 3 billion base pairs that make up humanoid genetic makeup in order to uncover genetic disparities among the population. By 2026, large pharmaceutical companies hope to have researched up to 2 million genomes and analyzed massive amounts of patient data from clinical drug studies. As new equipment is introduced, AI will be employed in genomics for a variety of omics investigations, including transcriptomics. To aid in the classification of potentially clinically significant genes, AI is used to combine data from genomic research with literature analysis. Machine learning is now a critical component of the genomics industry's growth. AI and Machine learning in genomics is already having an impact on a number of areas, including genetic testing, medical care delivery, and genomics accessibility for people interested in learning more about how their genes influence their health. The purpose of this research is to explore AI and Machine learning applications in gene technology and their roles in paving the way for future genomics machine learning applications.

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

Clinical Genetics and Genomics at a Glance The market-leading at a Glance series is popular among healthcare students and newly qualified practitioners, for its concise and simple approach and excellent illustrations. Each bite-sized chapter is covered in a double-page spread with clear, easy-to-follow diagrams, supported by succinct explanatory text. Covering a wide range of topics, books in the at a Glance series are ideal as introductory texts for teaching, learning and revision, and are useful throughout university and beyond. Everything you need to know about Clinical Genetics and Genomics ... at a Glance! Comprehensive and accessible overview of genetics in clinical practice with a unique systems-based approach Clinical Genetics and Genomics at a Glance combines the clinical and scientific facets of a complex subject in a way that is both accessible and succinct to facilitate the diagnosis, treatment, and management of common genetic conditions. Using the popular “at a Glance” format, this book enables the reader to gain a solid understanding of the practical applications of clinical genetics in different systems. Covering a wide range of topics, this book is perfect for an introduction on the subject texts or for revision purposes and are useful throughout medical school and beyond. Clinical Genetics and Genomics at a Glance uses a systemic approach following all the systems in the body: General topics such as inheritance, cytogenetic and molecular genetic techniques, how to read a genetic test report, and genetic counselling Chapters on key conditions with a genetic basis, organised by body systems, for example: Cardiology topics such as congenital heart disease, ischaemic heart disease, cardiomyopathies, arrhythmias, and sudden cardiac death Dermatology topics such as tuberous sclerosis, Gorlin syndrome, Darier disease, lamellar ichthyosis, mal de meleda, cutaneous porphyria, and epidermolysis bullosa Endocrinology topics such as adrenal gland conditions, androgen insensitivity syndrome, ambiguous sex syndromes, anorchism, Klinefelter syndrome, Turner syndrome, and diabetes mellitus Clinical Genetics and Genomics at a Glance is a helpful learning aid that can be used at various stages of medical training to gain an understanding of the aspects of clinical genetics and the fundamentals behind the specialty. The text also functions as a useful on-ward reference tool for practitioners of all experience levels.

A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.

Six new chapters on vital topics of interest such as multilocus SNP genotyping (SNP chips), RNAi, ChIP-chip, and genomic tiling arrays New edition responds to reviewers' and users' desire for greater coverage—now the most useful handbook on the market! Practical, concise summary of everything about genomics and emerging technologies a busy physician or medical student should know Covers concepts and techniques that are in use in medicine now, as well as those on the cutting-edge of science relevant to medicine, from bioinformatics to DNA diagnostics and proteomics NEW: Includes chapter-end exercises, enhancing the utility of the new edition as a textbook NEW: PowerPoint slides of images available at instructor website

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

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 andcancer 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 preventiveimplications 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 Interpretationof 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.

This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the “father of medical genetics”. He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He was a member of the U.S. National Academy of Sciences and many other academies in the world. He was awarded the National Medal of Science in 2002. He received many other honors including several honorary doctorates. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion.