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

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

Precision Cancer Medicine

Precision Cancer Medicine
Author: Sameek Roychowdhury,Eliezer M. Van Allen
Publsiher: Springer Nature
Total Pages: 196
Release: 2020-01-02
ISBN 10: 3030236374
ISBN 13: 9783030236373
Language: EN, FR, DE, ES & NL

Precision Cancer Medicine Book Review:

Genomic sequencing technologies have augmented the classification of cancer beyond tissue of origin and towards a molecular taxonomy of cancer. This has created opportunities to guide treatment decisions for individual patients with cancer based on their cancer’s unique molecular characteristics, also known as precision cancer medicine. The purpose of this text will be to describe the contribution and need for multiple disciplines working together to deliver precision cancer medicine. This entails a multi-disciplinary approach across fields including molecular pathology, computational biology, clinical oncology, cancer biology, drug development, genetics, immunology, and bioethics. Thus, we have outlined a current text on each of these fields as they work together to overcome various challenges and create opportunities to deliver precision cancer medicine. As trainees and junior faculty enter their respective fields, this text will provide a framework for understanding the role and responsibility for each specialist to contribute to this team science approach.

Clinical Applications for Next Generation Sequencing

Clinical Applications for Next Generation Sequencing
Author: Urszula Demkow,Rafal Ploski
Publsiher: Academic Press
Total Pages: 334
Release: 2015-09-10
ISBN 10: 0128018410
ISBN 13: 9780128018415
Language: EN, FR, DE, ES & NL

Clinical Applications for Next Generation Sequencing Book Review:

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

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.

Clinical Implementation of Next generation Sequencing Technologies in France and Quebec

Clinical Implementation of Next generation Sequencing Technologies in France and Quebec
Author: Gabrielle Bertier
Publsiher: Unknown
Total Pages: 135
Release: 2019
ISBN 10: 1928374650XXX
ISBN 13: OCLC:1112735144
Language: EN, FR, DE, ES & NL

Clinical Implementation of Next generation Sequencing Technologies in France and Quebec Book Review:

"The decreasing cost of next-generation sequencing (NGS) technologies has resulted in their increased use in research, and in the clinical context. Indeed, the correct interpretation of a human genome can enable better prevention, diagnosis and treatment strategies. Significant public investments in NGS have been made in developed nations to realise the promise of personalized medicine. Yet, today the sequencing and analysis of a patient's exome or genome is only offered as a clinical test in a few clinics around the world. France and Quebec have made sizable investments in genomics research, and France announced the launch of a genomic medicine plan in 2016. However, policy decisions still have to be made on the nation-wide clinical implementation of NGS technologies in both jurisdictions. Therefore, this project's objective was to contribute to the body of evidence available to policymakers in France and Quebec on the clinical implementation of NGS technologies. We focused our attention on two specific NGS technologies, namely Whole Genome Sequencing (WGS), and Whole Exome Sequencing (WES). We specifically aimed to assess if the responsible and efficient use of WES/WGS data in the context of clinical care could be impeded by policy gaps. Currently, the clinical interpretation of a patient's genome sequence data is done through the intervention of many stakeholders including basic science researchers. These researchers use bioinformatics tools, processes and norms developed for research to filter and analyse patients NGS data. In parallel, existing regulatory and normative frameworks have been developed for the use of genetic data, and include no clear definition of genomic data or genomic technologies. We hypothesised that these elements create a strong need for standardization of practices, and may require adaptations of current regulatory and normative frameworks to the context of NGS. We therefore aimed to answer three research questions: (1) What issues do technology users experience and foresee when using WES data to inform patient care? To answer this, we performed a systematic review of the literature.(2) How are patients' NGS data currently managed (produced, analysed, interpreted and shared) in clinical institutions in Quebec and in France? We answered this by performing a case studies analysis, interrogating key stakeholders directly involved in managing patients' NGS data in France and Quebec. (3) Are there gaps in the current regulatory and normative frameworks which should be addressed to enable a responsible and efficient standardized use of NGS data in the clinic? To answer this, we performed a narrative review of the currently applicable normative frameworks in France and in Quebec.In our systematic literature review, we identified 23 distinct challenges linked to the production, analysis, reporting and sharing of patients' WES data. We also found that technology users were calling for practices to be more standardized before NGS was offered as a clinical test, and that numerous infrastructural adjustments had to be made in order for healthcare institutions to accommodate the vase amounts of highly complex NGS data. Through our case study analysis, we showed that in addition to managing the various levels of complexities of producing, analysing and sharing complex NGS data, a significant buy-in from numerous stakeholders was necessary in order to offer clinical genomics to patients. At the National level, this cannot be done without a strong political will. Finally, through our normative frameworks analysis, we concluded that existing frameworks were highly protective of patients and research participants, and could need marginal adjustments in order to accommodate for NGS tests. However, we also concluded that clinical genomics could not be realized without political will, and sustained monetary and infrastructural investments, which are only partly present at the moment in France and Quebec." --

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

Genomic and Precision Medicine

Genomic and Precision Medicine
Author: Geoffrey S. Ginsburg,Huntington F Willard,Sean P. David
Publsiher: Academic Press
Total Pages: 370
Release: 2017-03-30
ISBN 10: 0128006544
ISBN 13: 9780128006542
Language: EN, FR, DE, ES & NL

Genomic and Precision Medicine Book Review:

Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners. Presents a comprehensive volume for primary care providers Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine Includes a current overview on major opportunities for genomic and personalized medicine in practice Highlights case studies that illustrate the practical use of genomics in the management in patients

Secondary Findings in Genomic Research

Secondary Findings in Genomic Research
Author: Anonim
Publsiher: Academic Press
Total Pages: 244
Release: 2020-02-29
ISBN 10: 0128167483
ISBN 13: 9780128167489
Language: EN, FR, DE, ES & NL

Secondary Findings in Genomic Research Book Review:

Secondary Findings in Genomic Research offers a single, highly accessible resource on interpreting, managing and disclosing secondary findings in genomic research. With chapters written by experts in the field, this book is the first to concisely explain the ethical and practical issues raised by secondary genomics findings for a multi and interdisciplinary audience of genomic researchers, translational scientists, clinicians, medical students, genetic counselors, ethicists, legal experts and law students, public policy specialists and regulators. Contributors from Europe, North America, and Asia effectively synthesize perspectives from a spectrum of different scientific, societal, and global contexts, and offer pragmatic approaches to a range of topics, including oversight, governance and policy surrounding secondary genomic results, criteria for identifying results for return, communication and consent, stakeholders’ attitudes and perspectives, disclosing results, and clinical, patient-centered protocols. Thoroughly addresses the scientific, ethical, practical and clinical issues raised by secondary findings resulting from genomic research, including active debate and challenges in the field Provides researchers, clinicians, regulators, and stakeholders with a holistic, interdisciplinary approach to interpreting, managing and disclosing secondary findings Brings together expert analysis from scholars across Europe, North America, and Asia representing a wide variety of scientific and societal contexts

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
Author: Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Publsiher: Academic Press
Total Pages: 436
Release: 2021-02-27
ISBN 10: 0128205202
ISBN 13: 9780128205204
Language: EN, FR, DE, ES & NL

Clinical DNA Variant Interpretation Book Review:

Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes

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

Clinical Precision Medicine

Clinical Precision Medicine
Author: Judy S. Crabtree
Publsiher: Academic Press
Total Pages: 112
Release: 2019-11-15
ISBN 10: 0128204028
ISBN 13: 9780128204023
Language: EN, FR, DE, ES & NL

Clinical Precision Medicine Book Review:

Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics Features chapter contributions from leaders in the field Consolidates fundamental concepts and current practices of precision medicine in one convenient resource

Molecular Microbiology

Molecular Microbiology
Author: David H. Persing,Fred C. Tenover,Randall T. Hayden,Margareta Ieven,Melissa B. Miller,Frederick S. Nolte,Yi-Wei Tang,Alex van Belkum
Publsiher: John Wiley & Sons
Total Pages: 835
Release: 2020-07-24
ISBN 10: 1555819079
ISBN 13: 9781555819071
Language: EN, FR, DE, ES & NL

Molecular Microbiology Book Review:

Presenting the latest molecular diagnostic techniques in one comprehensive volume The molecular diagnostics landscape has changed dramatically since the last edition of Molecular Microbiology: Diagnostic Principles and Practice in 2011. With the spread of molecular testing and the development of new technologies and their opportunities, laboratory professionals and physicians more than ever need a resource to help them navigate this rapidly evolving field. Editors David Persing and Fred Tenover have brought together a team of experienced researchers and diagnosticians to update this third edition comprehensively, to present the latest developments in molecular diagnostics in the support of clinical care and of basic and clinical research, including next-generation sequencing and whole-genome analysis. These updates are provided in an easy-to-read format and supported by a broad range of practical advice, such as determining the appropriate type and quantity of a specimen, releasing and concentrating the targets, and eliminating inhibitors. Molecular Microbiology: Diagnostic Principles and Practice Presents the latest basic scientific theory underlying molecular diagnostics Offers tested and proven applications of molecular diagnostics for the diagnosis of infectious diseases, including point-of-care testing Illustrates and summarizes key concepts and techniques with detailed figures and tables Discusses emerging technologies, including the use of molecular typing methods for real-time tracking of infectious outbreaks and antibiotic resistance Advises on the latest quality control and quality assurance measures Explores the increasing opportunities and capabilities of information technology Molecular Microbiology: Diagnostic Principles and Practice is a textbook for molecular diagnostics courses that can also be used by anyone involved with diagnostic test selection and interpretation. It is also a useful reference for laboratories and as a continuing education resource for physicians.

Genomic Medicine

Genomic Medicine
Author: Dhavendra Kumar,Charis Eng
Publsiher: Oxford University Press (UK)
Total Pages: 814
Release: 2014
ISBN 10: 019989602X
ISBN 13: 9780199896028
Language: EN, FR, DE, ES & NL

Genomic Medicine Book Review:

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Mapping and Sequencing the Human Genome

Mapping and Sequencing the Human Genome
Author: National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Mapping and Sequencing the Human Genome
Publsiher: National Academies Press
Total Pages: 128
Release: 1988-01-01
ISBN 10: 0309038405
ISBN 13: 9780309038409
Language: EN, FR, DE, ES & NL

Mapping and Sequencing the Human Genome Book Review:

There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.

Exome Sequence Analysis and Interpretation

Exome Sequence Analysis and Interpretation
Author: Vinod Scaria,Sridhar Sivasubbu
Publsiher: Research in Genomics
Total Pages: 124
Release: 2015-02-11
ISBN 10: 1928374650XXX
ISBN 13: 9182736450XXX
Language: EN, FR, DE, ES & NL

Exome Sequence Analysis and Interpretation Book Review:

A concise handbook on exome sequencing for clinicians and clinical geneticists.

Implementing and Evaluating Genomic Screening Programs in Health Care Systems

Implementing and Evaluating Genomic Screening Programs in Health Care Systems
Author: National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Genomics and Precision Health
Publsiher: National Academies Press
Total Pages: 150
Release: 2018-06-16
ISBN 10: 0309473411
ISBN 13: 9780309473415
Language: EN, FR, DE, ES & NL

Implementing and Evaluating Genomic Screening Programs in Health Care Systems Book Review:

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 Economics of Genomic Medicine

The Economics of Genomic Medicine
Author: Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publsiher: National Academies Press
Total Pages: 128
Release: 2013-06-20
ISBN 10: 0309269733
ISBN 13: 9780309269735
Language: EN, FR, DE, ES & NL

The Economics of Genomic Medicine Book Review:

The sequencing of the human genome and the identification of links between specific genetic variants and diseases have led to tremendous excitement over the potential of genomics to direct patient treatment toward more effective or less harmful interventions. Still, the use of whole genome sequencing challenges the traditional model of medical care where a test is ordered only when there is a clear indication for its use and a path for downstream clinical action is known. This has created a tension between experts who contend that using this information is premature and those who believe that having such information will empower health care providers and patients to make proactive decisions regarding lifestyle and treatment options. In addition, some stakeholders are concerned that genomic technologies will add costs to the health care system without providing commensurate benefits, and others think that health care costs could be reduced by identifying unnecessary or ineffective treatments. Economic models are frequently used to anticipate the costs and benefits of new health care technologies, policies, and regulations. Economic studies also have been used to examine much more specific issues, such as comparing the outcomes and cost effectiveness of two different drug treatments for the same condition. These kinds of analyses offer more than just predictions of future health care costs. They provide information that is valuable when implementing and using new technologies. Unfortunately, however, these economic assessments are often limited by a lack of data on which to base the examination. This particularly affects health economics, which includes many factors for which current methods are inadequate for assessing, such as personal utility, social utility, and patient preference. To understand better the health economic issues that may arise in the course of integrating genomic data into health care, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop in Washington, DC, on July 17-18, 2012, that brought together economists, regulators, payers, biomedical researchers, patients, providers, and other stakeholders to discuss the many factors that may influence this implementation. The workshop was one of a series that the roundtable has held on this topic, but it was the first focused specifically on economic issues. The Economics of Genomic Medicine summarizes this workshop.

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.

Content Analysis of Consent Forms for Clinical Whole Exome Sequencing

Content Analysis of Consent Forms for Clinical Whole Exome Sequencing
Author: Sara Ann Fowler
Publsiher: Unknown
Total Pages: 60
Release: 2016
ISBN 10: 1928374650XXX
ISBN 13: OCLC:951105691
Language: EN, FR, DE, ES & NL

Content Analysis of Consent Forms for Clinical Whole Exome Sequencing Book Review:

As genomic sequencing becomes increasingly incorporated into clinical care, the patient informed consent process must successfully manage many ethical challenges, including whether to seek secondary findings and which results will be returned to the patient. The goal of the current study was to explore variation among existing informed consent forms for clinical whole exome sequencing (WES) in order to identify the level of consistency with the recommendations from the Presidential Commission for the Study of Bioethical Issues and the American College of Medical Genetics and Genomics (ACMG) regarding informed consent for clinical genome scale sequencing. Recommendations of the Presidential Commission for the Study of Bioethical Issues and ACMG were organized into a framework of 18 key points for analysis. In addition, 5 other points relevant to informed consent were identified from a preliminary review of the sampled forms and review of the literature. These were assessed separately from the Bioethics Commission and ACMG list. Using these frameworks, content analysis was conducted on a sample of 18 informed consent forms for clinical WES downloaded from laboratory websites. For each of the individual Bioethics Commission and ACMG recommended consent items, the frequency of inclusion ranged from 11% to 100%. Among all forms in the sample, the average adherence to the complete list of 18 Bioethics and ACMG recommendations was 74.4%. For each of the 5 additionally identified items, the frequency of inclusion ranged from 5.6% to 50%. We observed considerable variability in the content of informed consent forms among the sample of 18 laboratories. This analysis can be useful to laboratories that provide clinical WES to create informed consent forms that they are in alignment with recommendations from the Bioethics Commission and ACMG. The development of a more standardized informed consent process could improve communication between clinicians and patients, increase understanding of genetic testing, and allow for increased data sharing.