Clinical Genomics

Clinical Genomics
Author: Shashikant Kulkarni,John Pfeifer
Publsiher: Academic Press
Total Pages: 488
Release: 2014-11-10
ISBN 10: 0124051731
ISBN 13: 9780124051737
Language: EN, FR, DE, ES & NL

Clinical Genomics Book Review:

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

Genomics in the Clinic

Genomics in the Clinic
Author: Ethylin Wang Jabs,Antonie D. Kline
Publsiher: Academic Press
Total Pages: 200
Release: 2020-06
ISBN 10: 9780128164785
ISBN 13: 0128164786
Language: EN, FR, DE, ES & NL

Genomics in the Clinic Book Review:

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

Applied Genomics in the Clinic

Applied Genomics in the Clinic
Author: Laura Gribaldo,Birep Sadiye Aygun,Ugur Özbek,Ewa Stepien,Ahmet Yesilyurt,Theodor Zamfirov,Angela Brand,Jeremy Sujie Cao,Irena Drmic Hofman,Simona Dumitriu,Marco Fabbri,Francesca Romana Grati,Sibel Aylin Ugur Iseri,Leyla Kapur-Pojskić,Ilker Karacan,Chris Junnian Liu,Pinar Uysal Onganer,Institute for Health and Consumer Protection
Publsiher: Unknown
Total Pages: 184
Release: 2013
ISBN 10: 9789279327254
ISBN 13: 9279327259
Language: EN, FR, DE, ES & NL

Applied Genomics in the Clinic Book Review:

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.

Clinical Genome Sequencing

Clinical Genome Sequencing
Author: Aad Tibben,Barbara B. Biesecker
Publsiher: Academic Press
Total Pages: 258
Release: 2019-03-30
ISBN 10: 0128133368
ISBN 13: 9780128133361
Language: EN, FR, DE, ES & NL

Clinical Genome Sequencing Book Review:

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

The Genome Odyssey

The Genome Odyssey
Author: Dr. Euan Angus Ashley
Publsiher: Celadon Books
Total Pages: 352
Release: 2021-02-23
ISBN 10: 1250234972
ISBN 13: 9781250234971
Language: EN, FR, DE, ES & NL

The Genome Odyssey Book Review:

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.

Medical and Health Genomics

Medical and Health Genomics
Author: Dhavendra Kumar,Stylianos Antonarakis
Publsiher: Academic Press
Total Pages: 358
Release: 2016-06-04
ISBN 10: 0127999221
ISBN 13: 9780127999227
Language: EN, FR, DE, ES & NL

Medical and Health Genomics Book Review:

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Precision Medicine A Guide to Genomics in Clinical Practice

Precision Medicine  A Guide to Genomics in Clinical Practice
Author: Jeanette J. McCarthy,Bryce A. Mendelsohn
Publsiher: McGraw-Hill Education / Medical
Total Pages: 240
Release: 2016-12-23
ISBN 10: 9781259644139
ISBN 13: 1259644138
Language: EN, FR, DE, ES & NL

Precision Medicine A Guide to Genomics in Clinical Practice Book Review:

A complete how-to guide for incorporating genomics into all applicable areas of clinical medicine Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice. To be as clinically relevant as possible, the book intentionally avoids excessive technical content and consistently emphasizes real-life patient care and decision support. Precision Medicine: A Guide to Genomics in Clinical Practice follows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stage. This organization allows healthcare providers to easily find the information relevant to their practice. Throughout, the authors highlight common pitfalls – technical and ethical – that might complicate the delivery of quality genomic healthcare. The book is enhanced by eleven valuable appendices that cover important topics ranging from the basics of genetics to ethical issues to regulation and reimbursement. If you are searching for a clinically relevant, non-technical resource that will teach you how genomic medicine can and should be practiced in your specific field of interest, Precision Medicine: A Guide to Genomics in Clinical Practice belongs on your desk.

Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics
Author: Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
Publsiher: Academic Press
Total Pages: 534
Release: 2020-04-10
ISBN 10: 0128173459
ISBN 13: 9780128173459
Language: EN, FR, DE, ES & NL

Handbook of Clinical Adult Genetics and Genomics Book Review:

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

Clinical Genomics Practical Applications for Adult Patient Care

Clinical Genomics  Practical Applications for Adult Patient Care
Author: Michael T. Murray,Mark Babyatski,Monica Giovanni
Publsiher: McGraw Hill Professional
Total Pages: 608
Release: 2013-10-22
ISBN 10: 0071810595
ISBN 13: 9780071810593
Language: EN, FR, DE, ES & NL

Clinical Genomics Practical Applications for Adult Patient Care Book Review:

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 and cancer 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 preventive implications 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 Interpretation of 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.

Genomics Proteomics and Clinical Bacteriology

Genomics  Proteomics  and Clinical Bacteriology
Author: Neil Woodford,Alan Patrick Johnson
Publsiher: Springer Science & Business Media
Total Pages: 395
Release: 2004
ISBN 10: 1592597637
ISBN 13: 9781592597635
Language: EN, FR, DE, ES & NL

Genomics Proteomics and Clinical Bacteriology Book Review:

This review of the application of proteomic and genomic advances in clinical biology covers principles such as the application of genomics to diagnostic bacteriology and protocols for interrogating bacterial genomes. It also provides updates on all the significant advances of genome sequencing.

Precision Medicine A Guide to Genomics in Clinical Practice

Precision Medicine  A Guide to Genomics in Clinical Practice
Author: Jeanette J. McCarthy,Bryce A. Mendelsohn
Publsiher: McGraw Hill Professional
Total Pages: 304
Release: 2017-01-05
ISBN 10: 1259644146
ISBN 13: 9781259644146
Language: EN, FR, DE, ES & NL

Precision Medicine A Guide to Genomics in Clinical Practice Book Review:

Incorporate genomics into every applicable area of your clinical practice with this complete how-to guide Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice. Features that make this book valuable to every practice: •Intentionally avoids excessive technical content and consistently emphasizes real-life patient care and decision support •Follows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stage •Organization allows healthcare providers to quickly and easily find the information relevant to their practice. •The authors highlight common pitfalls – technical and ethical – that might complicate the delivery of quality genomic healthcare •Enhanced by eleven valuable appendices that cover important topics ranging from the basics of genetics to ethical issues to regulation and reimbursement If you are searching for a clinically relevant, non-technical resource that will teach you how genomic medicine can and should be practiced in your specific field of interest, Precision Medicine: A Guide to Genomics in Clinical Practicebelongs on your desk.

Essentials of Genomic and Personalized Medicine

Essentials of Genomic and Personalized Medicine
Author: Geoffrey S. Ginsburg,Huntington F Willard
Publsiher: Academic Press
Total Pages: 850
Release: 2009-10-02
ISBN 10: 9780080958118
ISBN 13: 0080958117
Language: EN, FR, DE, ES & NL

Essentials of Genomic and Personalized Medicine Book Review:

Derived from the comprehensive two-volume set, Genomic and Personalized Medicine also edited by Drs. Willard and Ginsburg, this work serves the needs of the evolving population of scientists, researchers, practitioners and students that are embracing one of the most promising avenues for advances in diagnosis, prevention and treatment of human disease. From principles, methodology and translational approaches to genome discoveries and clinical applications, Essentials of Genomic and Personalized Medicine will be a valuable resource for various professionals and students across medical disciplines, including human genetics and genomics, oncology, neuroscience, gene therapy, molecular medicine, pharmacology, and biomedical sciences. Updates with regard to diagnostic testing, pharmacogenetics, predicting disease susceptibility, and other important research components as well as chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, present this book as an essential tool for a variety of professionals and students who are endeavouring into the developing the diverse and practical field of genomic and personalized medicine. * Full color throughout * Includes contributions on genetic counselling, ethical, legal/regulatory, and social issues related to the practice of genomic medicine from leaders in the field * Introductory chapter highlights differences between personalized and traditional medicine, promising areas of current research, and challenges to incorporate the latest research discoveries and practice * Ancillary material includes case studies and lab questions which highlight the collaborative approach to the science

Clinical Genomics Practical Applications for Adult Patient Care

Clinical Genomics  Practical Applications for Adult Patient Care
Author: Michael T. Murray, MD,Mark Babyatski, MD
Publsiher: McGraw Hill Professional
Total Pages: 928
Release: 2013-11-07
ISBN 10: 0071622446
ISBN 13: 9780071622448
Language: EN, FR, DE, ES & NL

Clinical Genomics Practical Applications for Adult Patient Care Book Review:

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.

Genomics and Clinical Medicine

Genomics and Clinical Medicine
Author: Dhavendra Kumar,David Weatherall
Publsiher: Oxford University Press
Total Pages: 672
Release: 2008-02-15
ISBN 10: 9780199720057
ISBN 13: 0199720053
Language: EN, FR, DE, ES & NL

Genomics and Clinical Medicine Book Review:

An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.

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,Bruce R. Korf,Wayne W. Grody
Publsiher: Academic Press
Total Pages: 318
Release: 2021-11-02
ISBN 10: 0128152370
ISBN 13: 9780128152379
Language: EN, FR, DE, ES & NL

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics Book Review:

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition 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 in this growing field. The book is ideal 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. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Practical Genomics for Clinical Ophthalmology

Practical Genomics for Clinical Ophthalmology
Author: Jane Ashworth,Graeme Black,Bart P. Leroy,Panagiotis I. Sergouniotis
Publsiher: Elsevier
Total Pages: 544
Release: 2022-01-31
ISBN 10: 0128139447
ISBN 13: 9780128139448
Language: EN, FR, DE, ES & NL

Practical Genomics for Clinical Ophthalmology Book Review:

Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader

Genomic and Personalized Medicine

Genomic and Personalized Medicine
Author: Anonim
Publsiher: Academic Press
Total Pages: 1350
Release: 2012-10-30
ISBN 10: 0123822289
ISBN 13: 9780123822284
Language: EN, FR, DE, ES & NL

Genomic and Personalized Medicine Book Review:

Genomic and Personalized Medicine, Second Edition — winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003. Highly Commended 2013 BMA Medical Book Award for Medicine More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis

Personal Genomics in the Clinic and Beyond Ethical Challenges and Controversies

Personal Genomics in the Clinic and Beyond  Ethical Challenges and Controversies
Author: Eftychia Vayena
Publsiher: Unknown
Total Pages: 135
Release: 2014
ISBN 10: 1928374650XXX
ISBN 13: OCLC:955509194
Language: EN, FR, DE, ES & NL

Personal Genomics in the Clinic and Beyond Ethical Challenges and Controversies Book Review:

Assessing Genomic Sequencing Information for Health Care Decision Making

Assessing Genomic Sequencing Information for Health Care Decision Making
Author: Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publsiher: National Academies Press
Total Pages: 126
Release: 2014-08-19
ISBN 10: 0309304970
ISBN 13: 9780309304979
Language: EN, FR, DE, ES & NL

Assessing Genomic Sequencing Information for Health Care Decision Making Book Review:

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.

Genomic and Precision Medicine

Genomic and Precision Medicine
Author: Geoffrey S. Ginsburg,Huntington F Willard
Publsiher: Academic Press
Total Pages: 398
Release: 2016-11-22
ISBN 10: 0128006560
ISBN 13: 9780128006566
Language: EN, FR, DE, ES & NL

Genomic and Precision Medicine Book Review:

Genomic and Precision Medicine: 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