Clinical Genome Sequencing Book

Clinical Genome Sequencing


  • Author : Aad Tibben
  • Publisher : Academic Press
  • Release Date : 2019-03-30
  • Genre: Medical
  • Pages : 258
  • ISBN 10 : 9780128133361

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Clinical Genome Sequencing Excerpt :

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

Rigor and Reproducibility in Genetics and Genomics Book

Rigor and Reproducibility in Genetics and Genomics


  • Author : Anonim
  • Publisher : Academic Press
  • Release Date : 2021-07-01
  • Genre: Medical
  • Pages : 472
  • ISBN 10 : 9780128172193

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Rigor and Reproducibility in Genetics and Genomics Excerpt :

Rigor and Reproducibility in Genetics and Genomics: Peer-reviewed, Published, Cited provides a full methodological and statistical overview for researchers, clinicians, students, and post-doctoral fellows conducting genetic and genomic research. Here, active geneticists, clinicians, and bioinformaticists offer practical solutions for a variety of challenges associated with several modern approaches in genetics and genomics, including genotyping, gene expression analysis, epigenetic analysis, GWAS, EWAS, genomic sequencing, and gene editing. Emphasis is placed on rigor and reproducibility throughout, with each section containing laboratory case-studies and classroom activities covering step-by-step protocols, best practices, and common pitfalls. Specific genetic and genomic technologies discussed include microarray analysis, DNA-seq, RNA-seq, Chip-Seq, methyl-seq, CRISPR gene editing, and CRISPR-based genetic analysis. Training exercises, supporting data, and in-depth discussions of rigor, reproducibility, and ethics in research together deliver a solid foundation in research standards for the next generation of genetic and genomic scientists. Provides practical approaches and step-by-step protocols to strengthen genetic and genomic research conducted in the lab or classroom Through illustrative case studies and training exercises, discusses common pitfalls and solutions for genotyping, gene expression analysis, epigenetic analysis, GWAS, EWAS, genomic sequencing, and gene editing, among other genetic and genomic approaches Specifically examines best practices for microarray analysis, DNA-seq, RNA-seq, gene expression validation, Chip-Seq, methyl-seq, CRISPR gene editing, and CRISPR-based genetic analysis

Understanding Disparities in Access to Genomic Medicine Book

Understanding Disparities in Access to Genomic Medicine


  • Author : National Academies of Sciences, Engineering, and Medicine
  • Publisher : National Academies Press
  • Release Date : 2019-01-28
  • Genre: Medical
  • Pages : 127
  • ISBN 10 : 9780309485258

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Understanding Disparities in Access to Genomic Medicine Excerpt :

Genomic medicine is defined as the routine use of genomic information about an individual as part of his or her clinical care as well as the health outcomes and policy implications of that clinical use. It is one approach that has the potential to improve the quality of health care by allowing practitioners to tailor prevention, diagnostic, and treatment strategies to individual patients. In recent years, research breakthroughs, technological advances, and the decreasing cost of DNA sequencing have led to the wider adoption of genomic medicine. However, as with the introduction of new technologies into health care, there are concerns that genetic and genomic testing and services will not reach all segments of the population both now and in the near future, and there remains a gap in knowledge regarding potential health care disparities in genomic medicine and precision health approaches. On June 27, 2018, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to examine the gaps in knowledge related to access to genomic medicine and to discuss health care disparities and possible approaches to overcoming the disparate use of genomic medicine among populations. Workshop participants discussed research on access to genetics and genomics services in medically underserved areas, model programs of care for diverse patient populations, and current challenges and possible best practices for alleviating health care disparities as they relate to genomics-based approaches. This publication summarizes the presentations and discussions from the workshop.

Assessing Genetic Risks Book

Assessing Genetic Risks


  • Author : Institute of Medicine
  • Publisher : National Academies Press
  • Release Date : 1994-01-01
  • Genre: Medical
  • Pages : 353
  • ISBN 10 : 9780309047982

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Assessing Genetic Risks Excerpt :

Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Reaping the Benefits of Genomic and Proteomic Research Book

Reaping the Benefits of Genomic and Proteomic Research


  • Author : National Research Council
  • Publisher : National Academies Press
  • Release Date : 2006-03-09
  • Genre: Science
  • Pages : 188
  • ISBN 10 : 0309164885

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Reaping the Benefits of Genomic and Proteomic Research Excerpt :

The patenting and licensing of human genetic material and proteins represents an extension of intellectual property (IP) rights to naturally occurring biological material and scientific information, much of it well upstream of drugs and other disease therapies. This report concludes that IP restrictions rarely impose significant burdens on biomedical research, but there are reasons to be apprehensive about their future impact on scientific advances in this area. The report recommends 13 actions that policy-makers, courts, universities, and health and patent officials should take to prevent the increasingly complex web of IP protections from getting in the way of potential breakthroughs in genomic and proteomic research. It endorses the National Institutes of Health guidelines for technology licensing, data sharing, and research material exchanges and says that oversight of compliance should be strengthened. It recommends enactment of a statutory exception from infringement liability for research on a patented invention and raising the bar somewhat to qualify for a patent on upstream research discoveries in biotechnology. With respect to genetic diagnostic tests to detect patient mutations associated with certain diseases, the report urges patent holders to allow others to perform the tests for purposes of verifying the results.

Clinical Genome Sequencing Book

Clinical Genome Sequencing


  • Author : Aad Tibben
  • Publisher : Academic Press
  • Release Date : 2019-03-30
  • Genre: Medical
  • Pages : 258
  • ISBN 10 : 9780128133361

DOWNLOAD BOOK
Clinical Genome Sequencing Excerpt :

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

UNDERSTANDING DISPARITIES IN ACCESS TO GENOMIC MEDICINE Book

UNDERSTANDING DISPARITIES IN ACCESS TO GENOMIC MEDICINE


  • Author : Anonim
  • Publisher : Unknown
  • Release Date : 2018
  • Genre: Electronic books
  • Pages : 105
  • ISBN 10 : 0309485266

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UNDERSTANDING DISPARITIES IN ACCESS TO GENOMIC MEDICINE Excerpt :

"Genomic medicine is defined as the routine use of genomic information about an individual as part of his or her clinical care as well as the health outcomes and policy implications of that clinical use. It is one approach that has the potential to improve the quality of health care by allowing practitioners to tailor prevention, diagnostic, and treatment strategies to individual patients. In recent years, research breakthroughs, technological advances, and the decreasing cost of DNA sequencing have led to the wider adoption of genomic medicine. However, as with the introduction of new technologies into health care, there are concerns that genetic and genomic testing and services will not reach all segments of the population both now and in the near future, and there remains a gap in knowledge regarding potential health care disparities in genomic medicine and precision health approaches. On June 27, 2018, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to examine the gaps in knowledge related to access to genomic medicine and to discuss health care disparities and possible approaches to overcoming the disparate use of genomic medicine among populations. Workshop participants discussed research on access to genetics and genomics services in medically underserved areas, model programs of care for diverse patient populations, and current challenges and possible best practices for alleviating health care disparities as they relate to genomics-based approaches. This publication summarizes the presentations and discussions from the workshop"--Publisher's description.

Genomics Enabled Learning Health Care Systems Book

Genomics Enabled Learning Health Care Systems


  • Author : Institute of Medicine
  • Publisher : National Academies Press
  • Release Date : 2015-07-08
  • Genre: Medical
  • Pages : 116
  • ISBN 10 : 9780309371155

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Genomics Enabled Learning Health Care Systems Excerpt :

The inclusion of genomic data in a knowledge-generating health care system infrastructure is one promising way to harness the full potential of that information to provide better patient care. In such a system, clinical practice and research influence each other with the goal of improving the efficiency and effectiveness of disease prevention, diagnosis, and treatment. To examine pragmatic approaches to incorporating genomics in learning health care systems, the Institute of Medicine Roundtable on Translating Genomic-Based Research for Health hosted a workshop which convened a variety of stakeholder groups, including commercial developers, health information technology professionals, clinical providers, academic researchers, patient groups, and government and health system representatives, to present their perspectives and participate in discussions on maximizing the value that can be obtained from genomic information. The workshop examined how a variety of systems are capturing and making use of genomic data to generate knowledge for advancing health care in the 21st century. It also sought to evaluate the challenges, opportunities, and best practices for capturing or using genomic information in knowledge-generating health care systems. Genomics-Enabled Learning Health Care Systems summarizes the presentations and discussion of the workshop.

An Evidence Framework for Genetic Testing Book

An Evidence Framework for Genetic Testing


  • Author : National Academies of Sciences, Engineering, and Medicine
  • Publisher : National Academies Press
  • Release Date : 2017-04-21
  • Genre: Medical
  • Pages : 149
  • ISBN 10 : 9780309453295

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An Evidence Framework for Genetic Testing Excerpt :

Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Implementing and Evaluating Genomic Screening Programs in Health Care Systems Book

Implementing and Evaluating Genomic Screening Programs in Health Care Systems


  • Author : National Academies of Sciences, Engineering, and Medicine
  • Publisher : National Academies Press
  • Release Date : 2018-06-16
  • Genre: Medical
  • Pages : 151
  • ISBN 10 : 9780309473415

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Implementing and Evaluating Genomic Screening Programs in Health Care Systems Excerpt :

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.

The Gene Wars Book

The Gene Wars


  • Author : Robert M. Cook-Deegan
  • Publisher : W. W. Norton & Company
  • Release Date : 1994
  • Genre: Science
  • Pages : 426
  • ISBN 10 : 0393035727

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The Gene Wars Excerpt :

A look at the controversial Human Genome Project recounts the struggle to launch the multi-billion-dollar, ten- to twenty-year project and relies on primary documents gathered as events unfolded to unravel the tangled scientific and political threads of the story.

Modern Medical Genetics and Genomics Book

Modern Medical Genetics and Genomics


  • Author : Israel Gomy
  • Publisher : BoD – Books on Demand
  • Release Date : 2019-12-18
  • Genre: Medical
  • Pages : 106
  • ISBN 10 : 9781839681424

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Modern Medical Genetics and Genomics Excerpt :

The field of medical genetics and genomics has been constantly revolutionized by new breakthroughs, which bring more knowledge into the etiology and help improve the health care of individuals with either rare or common diseases. Nevertheless, as technologies evolve, novel challenges emerge, both technically and ethically, so they must be prudentially addressed. Among the myriad applications of genomics in medicine, this book depicts a glimpse of the advances achieved that have been leading us to the personalized/precision medicine era.

Human Genetics and Genomics Book

Human Genetics and Genomics


  • Author : Bruce R. Korf
  • Publisher : John Wiley & Sons
  • Release Date : 2012-11-19
  • Genre: Medical
  • Pages : 280
  • ISBN 10 : 9781118537664

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Human Genetics and Genomics Excerpt :

This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides

Genomics and World Health Book

Genomics and World Health


  • Author : Organisation mondiale de la santé
  • Publisher : World Health Organization
  • Release Date : 2002
  • Genre: Electronic books
  • Pages : 252
  • ISBN 10 : 9789241545549

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Genomics and World Health Excerpt :

Cells and Surveys Book

Cells and Surveys


  • Author : National Research Council
  • Publisher : National Academies Press
  • Release Date : 2001-01-19
  • Genre: Social Science
  • Pages : 392
  • ISBN 10 : 0309171431

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Cells and Surveys Excerpt :

What can social science, and demography in particular, reasonably expect to learn from biological information? There is increasing pressure for multipurpose household surveys to collect biological data along with the more familiar interviewer-respondent information. Given that recent technical developments have made it more feasible to collect biological information in non-clinical settings, those who fund, design, and analyze survey data need to think through the rationale and potential consequences. This is a concern that transcends national boundaries. Cells and Surveys addresses issues such as which biologic/genetic data should be collected in order to be most useful to a range of social scientists and whether amassing biological data has unintended side effects. The book also takes a look at the various ethical and legal concerns that such data collection entails.