Integrating Large Scale Genomic Information Into Clinical Practice

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 112 pages
File Size : 54,5 Mb
Release : 2012-02-06
Category : Medical
ISBN : 9780309220378

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Integrating Large-Scale Genomic Information into Clinical Practice by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

The initial sequencing of the human genome, carried out by an international group of experts, took 13 years and $2.7 billion to complete. In the decade since that achievement, sequencing technology has evolved at such a rapid pace that today a consumer can have his or her entire genome sequenced by a single company in a matter of days for less than $10,000, though the addition of interpretation may extend this timeframe. Given the rapid technological advances, the potential effect on the lives of patients, and the increasing use of genomic information in clinical care, it is important to address how genomics data can be integrated into the clinical setting. Genetic tests are already used to assess the risk of breast and ovarian cancers, to diagnose recessive diseases such as cystic fibrosis, to determine drug dosages based on individual patient metabolism, and to identify therapeutic options for treating lung and breast tumors, melanoma, and leukemia. With these issues in mind and considering the potential impact that genomics information can have on the prevention, diagnosis, and treatment of disease, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop on July 19, 2011, to highlight and identify the challenges and opportunities in integrating large-scale genomic information into clinical practice. Integrating Large-Scale Genomic Information into Clinical Practice summarizes the speaker presentations and the discussions that followed them. This report focuses on several key topics, including the analysis, interpretation, and delivery of genomic information plus workforce, ethical, and legal issues.

Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 137 pages
File Size : 52,9 Mb
Release : 2016-08-06
Category : Medical
ISBN : 9780309437769

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Applying an Implementation Science Approach to Genomic Medicine by National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

Although it is becoming increasingly more common for clinicians to use genomic data in their practices for disease prevention, diagnosis, and treatment, the process of integrating genomic data into the practice of medicine has been a slow and challenging one. Some of the major barriers impeding the incorporation of new genomic technology into clinical practice are: the difficulty of changing routine medical practices to account for the use of genetic testing, the limited knowledge of patients and providers about genomic medicine, assessing sufficient evidence to support the use of genetic tests, privacy and data security issues, and uncertainty about reimbursement. The field of implementation science may be able to provide insights concerning efficient ways to incorporate genomic applications into routine clinical practice. The focus of implementation science studies is to identify integration bottlenecks and optimal approaches for a given setting and ultimately to promote the up-take of research findings. To explore the potential of implementation science to improve the integration of genomics into medicine, the National Academies of Sciences, Engineering, and Medicine held a workshop in Washington, DC, in November 2015. Participants explored the challenges and opportunities of integrating genomic advances into the clinic through the lens of implementation science. This report summarizes the presentations and discussions from the workshop.

Author : National Research Council,Division on Earth and Life Studies,Board on Life Sciences,Committee on A Framework for Developing a New Taxonomy of Disease
Publisher : National Academies Press
Page : 142 pages
File Size : 50,9 Mb
Release : 2012-01-16
Category : Medical
ISBN : 9780309222228

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Toward Precision Medicine by National Research Council,Division on Earth and Life Studies,Board on Life Sciences,Committee on A Framework for Developing a New Taxonomy of Disease Pdf

Motivated by the explosion of molecular data on humans-particularly data associated with individual patients-and the sense that there are large, as-yet-untapped opportunities to use this data to improve health outcomes, Toward Precision Medicine explores the feasibility and need for "a new taxonomy of human disease based on molecular biology" and develops a potential framework for creating one. The book says that a new data network that integrates emerging research on the molecular makeup of diseases with clinical data on individual patients could drive the development of a more accurate classification of diseases and ultimately enhance diagnosis and treatment. The "new taxonomy" that emerges would define diseases by their underlying molecular causes and other factors in addition to their traditional physical signs and symptoms. The book adds that the new data network could also improve biomedical research by enabling scientists to access patients' information during treatment while still protecting their rights. This would allow the marriage of molecular research and clinical data at the point of care, as opposed to research information continuing to reside primarily in academia. Toward Precision Medicine notes that moving toward individualized medicine requires that researchers and health care providers have access to very large sets of health- and disease-related data linked to individual patients. These data are also critical for developing the information commons, the knowledge network of disease, and ultimately the new taxonomy.

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 116 pages
File Size : 46,5 Mb
Release : 2015-07-08
Category : Medical
ISBN : 9780309371155

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Genomics-Enabled Learning Health Care Systems by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

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.

Author : Luigi Piroddi
Publisher : Springer Nature
Page : 151 pages
File Size : 42,5 Mb
Release : 2022-01-01
Category : Technology & Engineering
ISBN : 9783030859183

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Special Topics in Information Technology by Luigi Piroddi Pdf

This open access book presents thirteen outstanding doctoral dissertations in Information Technology from the Department of Electronics, Information and Bioengineering, Politecnico di Milano, Italy. Information Technology has always been highly interdisciplinary, as many aspects have to be considered in IT systems. The doctoral studies program in IT at Politecnico di Milano emphasizes this interdisciplinary nature, which is becoming more and more important in recent technological advances, in collaborative projects, and in the education of young researchers. Accordingly, the focus of advanced research is on pursuing a rigorous approach to specific research topics starting from a broad background in various areas of Information Technology, especially Computer Science and Engineering, Electronics, Systems and Control, and Telecommunications. Each year, more than 50 PhDs graduate from the program. This book gathers the outcomes of the thirteen best theses defended in 2020-21 and selected for the IT PhD Award. Each of the authors provides a chapter summarizing his/her findings, including an introduction, description of methods, main achievements and future work on the topic. Hence, the book provides a cutting-edge overview of the latest research trends in Information Technology at Politecnico di Milano, presented in an easy-to-read format that will also appeal to non-specialists.

Author : Institute of Medicine,Board on Health Sciences Policy,Board on Health Care Services,Committee on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials
Publisher : National Academies Press
Page : 354 pages
File Size : 41,9 Mb
Release : 2012-09-13
Category : Science
ISBN : 9780309224185

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Evolution of Translational Omics by Institute of Medicine,Board on Health Sciences Policy,Board on Health Care Services,Committee on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials Pdf

Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.

Author : Anne Kerr
Publisher : Unknown
Page : 280 pages
File Size : 47,8 Mb
Release : 2021-02-23
Category : Medical
ISBN : 1526141027

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Personalised Cancer Medicine by Anne Kerr Pdf

Author : Stephen D. Krau
Publisher : Elsevier Health Sciences
Page : 188 pages
File Size : 52,7 Mb
Release : 2013-12-28
Category : Medical
ISBN : 9780323261111

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Genomics, An Issue of Nursing Clinics by Stephen D. Krau Pdf

This issue of Nursing Clinics of North America is Guest Edited by Stephen D. Krau, PhD, RN, CNE, from Vanderbilt University and will focus on genomics. Article topics will include Genetic and Genomic Testing, Integrating Genomics into Research, Genomic Assessments and Interventions in Psychiatric Nursing Practice, Genomics in Critical Care, Cardiomyopathy and Genetics, Genetics and Chronic Diseases, Genomics and Patients with Rare Chronic Diseases, Epigenetics and the implications for disease processes, Impact of Genetics on Oncology Nursing, and Pharmacogenetics.

Author : Altuna Akalin
Publisher : CRC Press
Page : 462 pages
File Size : 52,5 Mb
Release : 2020-12-16
Category : Mathematics
ISBN : 9781498781862

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Computational Genomics with R by Altuna Akalin Pdf

Computational Genomics with R provides a starting point for beginners in genomic data analysis and also guides more advanced practitioners to sophisticated data analysis techniques in genomics. The book covers topics from R programming, to machine learning and statistics, to the latest genomic data analysis techniques. The text provides accessible information and explanations, always with the genomics context in the background. This also contains practical and well-documented examples in R so readers can analyze their data by simply reusing the code presented. As the field of computational genomics is interdisciplinary, it requires different starting points for people with different backgrounds. For example, a biologist might skip sections on basic genome biology and start with R programming, whereas a computer scientist might want to start with genome biology. After reading: You will have the basics of R and be able to dive right into specialized uses of R for computational genomics such as using Bioconductor packages. You will be familiar with statistics, supervised and unsupervised learning techniques that are important in data modeling, and exploratory analysis of high-dimensional data. You will understand genomic intervals and operations on them that are used for tasks such as aligned read counting and genomic feature annotation. You will know the basics of processing and quality checking high-throughput sequencing data. You will be able to do sequence analysis, such as calculating GC content for parts of a genome or finding transcription factor binding sites. You will know about visualization techniques used in genomics, such as heatmaps, meta-gene plots, and genomic track visualization. You will be familiar with analysis of different high-throughput sequencing data sets, such as RNA-seq, ChIP-seq, and BS-seq. You will know basic techniques for integrating and interpreting multi-omics datasets. Altuna Akalin is a group leader and head of the Bioinformatics and Omics Data Science Platform at the Berlin Institute of Medical Systems Biology, Max Delbrück Center, Berlin. He has been developing computational methods for analyzing and integrating large-scale genomics data sets since 2002. He has published an extensive body of work in this area. The framework for this book grew out of the yearly computational genomics courses he has been organizing and teaching since 2015.

Author : National Academies of Sciences, Engineering, and Medicine,Institute of Medicine,Board on Health Care Services,Committee on Policy Issues in the Clinical Development and Use of Biomarkers for Molecularly Targeted Therapies
Publisher : National Academies Press
Page : 293 pages
File Size : 55,6 Mb
Release : 2016-07-30
Category : Medical
ISBN : 9780309381345

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Biomarker Tests for Molecularly Targeted Therapies by National Academies of Sciences, Engineering, and Medicine,Institute of Medicine,Board on Health Care Services,Committee on Policy Issues in the Clinical Development and Use of Biomarkers for Molecularly Targeted Therapies Pdf

Every patient is unique, and the evolving field of precision medicine aims to ensure the delivery of the right treatment to the right patient at the right time. In an era of rapid advances in biomedicine and enhanced understanding of the genetic basis of disease, health care providers increasingly have access to advanced technologies that may identify molecular variations specific to an individual patient, which subsequently can be targeted for treatment. Known as biomarker tests for molecularly targeted therapies, these complex tests have the potential to enable the selection of the most beneficial treatment (and also to identify treatments that may be harmful or ineffective) for the molecular underpinnings of an individual patient's disease. Such tests are key to unlocking the promise of precision medicine. Biomarker tests for molecularly targeted therapies represent a crucial area of focus for developing methods that could later be applicable to other areas of precision medicine. The appropriate regulatory oversight of these tests is required to ensure that they are accurate, reliable, properly validated, and appropriately implemented in clinical practice. Moreover, common evidentiary standards for assessing the beneficial impact of biomarker-guided therapy selection on patient outcomes, as well as the effective collection and sharing of information related to those outcomes, are urgently needed to better inform clinical decision making. Biomarker Tests of Molecularly Targeted Therapies examines opportunities for and challenges to the use of biomarker tests to select optimal therapy and offers recommendations to accelerate progress in this field. This report explores regulatory issues, reimbursement issues, and clinical practice issues related to the clinical development and use of biomarker tests for targeting therapies to patients. Properly validated, appropriately implemented biomarker tests hold the potential to enhance patient care and improve outcomes, and therefore addressing the challenges facing such tests is critical.

Author : Kayhan Erciyes
Publisher : Springer
Page : 367 pages
File Size : 46,7 Mb
Release : 2015-10-31
Category : Computers
ISBN : 9783319249667

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Distributed and Sequential Algorithms for Bioinformatics by Kayhan Erciyes Pdf

This unique textbook/reference presents unified coverage of bioinformatics topics relating to both biological sequences and biological networks, providing an in-depth analysis of cutting-edge distributed algorithms, as well as of relevant sequential algorithms. In addition to introducing the latest algorithms in this area, more than fifteen new distributed algorithms are also proposed. Topics and features: reviews a range of open challenges in biological sequences and networks; describes in detail both sequential and parallel/distributed algorithms for each problem; suggests approaches for distributed algorithms as possible extensions to sequential algorithms, when the distributed algorithms for the topic are scarce; proposes a number of new distributed algorithms in each chapter, to serve as potential starting points for further research; concludes each chapter with self-test exercises, a summary of the key points, a comparison of the algorithms described, and a literature review.

Author : Jules J. Berman
Publisher : Academic Press
Page : 398 pages
File Size : 48,5 Mb
Release : 2018-01-26
Category : Business & Economics
ISBN : 9780128143940

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Precision Medicine and the Reinvention of Human Disease by Jules J. Berman Pdf

Despite what you may have read in the popular press and in social media, Precision Medicine is not devoted to finding unique treatments for individuals, based on analyzing their DNA. To the contrary, the goal of Precision Medicine is to find general treatments that are highly effective for large numbers of individuals who fall into precisely diagnosed groups. We now know that every disease develops over time, through a sequence of defined biological steps, and that these steps may differ among individuals, based on genetic and environmental conditions. We are currently developing rational therapies and preventive measures, based on our precise understanding of the steps leading to the clinical expression of diseases. Precision Medicine and the Reinvention of Human Disease explains the scientific breakthroughs that have changed the way that we understand diseases, and reveals how medical scientists are using this new knowledge to launch a medical revolution. Clarifies the foundational concepts of Precision Medicine, distinguishing this field from its predecessors such as genomics, pharmacogenetics, and personalized medicine. Gathers the chief conceptual advances in the fields of genetics, pathology, and bioinformatics, and synthesizes a coherent narrative for the field of Precision Medicine. Delivers its message in plain language, and in a relaxed, conversational writing style, making it easy to understand the complex subject matter. Guides the reader through a coherent and logical narrative, gradually providing expertise and skills along the way. Covers the importance of data sharing in Precision Medicine, and the many data-related challenges that confront this fragile new field.

Author : Katharina Kichko
Publisher : Springer Nature
Page : 354 pages
File Size : 55,8 Mb
Release : 2019-09-21
Category : Business & Economics
ISBN : 9783658278434

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Personalized Medicine as Innovation by Katharina Kichko Pdf

Katharina Kichko supports the first Personalized Medicine learnings as she provides an approach overview in general as well as reimbursement and regulatory policies in particular. In focus stays analysis of the current Personalized Medicine in the U.S. and Germany as well as its preconditions for a wider implementation in the medical practice. Results have shown that the U.S. – as early knower – have the most projects as well as personalized drugs and therapies, while Germany – as a follower – has a significant number of projects and personalized products and more to come in future.

Author : Mukesh Verma,Debmalya Barh
Publisher : Academic Press
Page : 344 pages
File Size : 49,9 Mb
Release : 2016-12-22
Category : Medical
ISBN : 9780128095027

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Progress and Challenges in Precision Medicine by Mukesh Verma,Debmalya Barh Pdf

Progress and Challenges in Precision Medicine presents an insightful overview to the myriad factors of personalized and precision medicine. The availability of the human genome, large amounts of data on individual genetic variations, environmental interactions, influence of lifestyle, and cutting-edge tools and technologies for big-data analysis have led to the age of personalized and precision medicine. Bringing together a global range of experts on precision medicine, this book collects previously scattered information into one concise volume which covers the most important developments so far in precision medicine and also suggests the most likely avenues for future development. The book includes clinical information, informatics, public policy implications, and information on case studies. It is a useful reference and background work for students, researchers, and clinicians working in the biomedical and medical fields, as well as policymakers in the health sciences. Provides an overview of the growing field of precision medicine Contains chapters from geographically diverse experts in their field Explores important aspects of precision medicine, including applications, ethics, and development

Author : Agency for Healthcare Research and Quality/AHRQ
Publisher : Government Printing Office
Page : 396 pages
File Size : 55,9 Mb
Release : 2014-04-01
Category : Medical
ISBN : 9781587634338

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Registries for Evaluating Patient Outcomes by Agency for Healthcare Research and Quality/AHRQ Pdf

This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase understanding of patient outcomes. For the purposes of this guide, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. A registry database is a file (or files) derived from the registry. Although registries can serve many purposes, this guide focuses on registries created for one or more of the following purposes: to describe the natural history of disease, to determine clinical effectiveness or cost-effectiveness of health care products and services, to measure or monitor safety and harm, and/or to measure quality of care. Registries are classified according to how their populations are defined. For example, product registries include patients who have been exposed to biopharmaceutical products or medical devices. Health services registries consist of patients who have had a common procedure, clinical encounter, or hospitalization. Disease or condition registries are defined by patients having the same diagnosis, such as cystic fibrosis or heart failure. The User’s Guide was created by researchers affiliated with AHRQ’s Effective Health Care Program, particularly those who participated in AHRQ’s DEcIDE (Developing Evidence to Inform Decisions About Effectiveness) program. Chapters were subject to multiple internal and external independent reviews.