Genomics in The Clinic Books

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Genomics in the Clinic


Genomics in the Clinic
  • Author : Ethylin Wang Jabs
  • Publisher : Academic Press
  • Release : 2020-06
  • ISBN : 0128164786
  • Language : En, Es, Fr & De
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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
  • Publisher : Academic Press
  • Release : 2014-11-10
  • ISBN : 9780124051737
  • Language : En, Es, Fr & De
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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 : Celadon Books
  • Release : 2021-02-23
  • ISBN : 9781250234971
  • Language : En, Es, Fr & De
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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
  • Publisher :
  • Release : 2013
  • ISBN : 9279327259
  • Language : En, Es, Fr & De
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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.

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
  • Publisher : Academic Press
  • Release : 2020-09-30
  • ISBN : 9780128126837
  • Language : En, Es, Fr & De
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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