Assessing Genomic Sequencing Information For Health Care Decision Making
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Assessing Genomic Sequencing Information For Health Care Decision Making
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Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 2014-08-19
Assessing Genomic Sequencing Information For Health Care Decision Making written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-08-19 with Medical categories.
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.
Implementing And Evaluating Genomic Screening Programs In Health Care Systems
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Author : National Academies of Sciences, Engineering, and Medicine
language : en
Publisher: National Academies Press
Release Date : 2018-06-16
Implementing And Evaluating Genomic Screening Programs In Health Care Systems written by National Academies of Sciences, Engineering, and Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-06-16 with Medical categories.
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.
Health Economics Of Genomic Medicine
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Author : Sarah Wordsworth
language : en
Publisher:
Release Date : 2022-01-15
Health Economics Of Genomic Medicine written by Sarah Wordsworth and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-01-15 with categories.
Although genomic medicine is still a fairly new clinical area, the history of health economics involvement in genomics has a longer history than might be anticipated. Some of the earliest health economics input into genomics was in areas such as neonatal and newborn screening, where health economists contributed to decisions about adding new conditions into newborn screening programmes worldwide. More recently, the first human genome was only sequenced in 2003, costing between US$500 million and US$1 billion. However, by 2008 costs had fallen to a level where so called 'next-generation sequencing (NGS)' approaches started to enter clinical research. NGS approaches allow either the whole genome using methods such as whole-genome sequencing (WGS) or parts of it using whole-exome sequencing (WES) or targeted panels to be sequenced in hours with increased sensitivity compared to older less advanced genetic testing approaches. These sequencing approaches provide information that can inform diagnosis, prognosis and clinical management for a variety of disorders, such as rare diseases and some cancers. However, the current costs are still too expensive for some health care providers and the benefit of the tests is largely unknown. Indeed, a lack of evidence on the cost-effectiveness of novel genomic technologies such as WGS is considered a key translational challenge. This is partly because economic evaluations of genomic technologies often fall outside the remit of health technology assessment (HTA) agencies, such as NICE and PBAC. Where they are undertaken (in a HTA context), the methods used for the assessment sometimes differ from those recommended by HTA agencies for cost-effectiveness analysis. This is against a background of uncertainty as to whether the terms precision medicine, personalised medicine or genomic medicine best capture this space in health care. Methodological challenges Some applications of genomic sequencing generate information that may not improve quality of life (as measured using preference-based health-related quality of life [HRQoL] instruments such as the EuroQol-five dimensions questionnaire) or extend life expectancy. One example is the use of WGS and WES to guide diagnosis in autism spectrum disorder. However, genomic sequencing results may influence patient wellbeing via non-clinical routes, generating 'personal utility'. This is a particular issue for individuals with rare diseases, who often have lengthy diagnostic journeys but few (if any) treatment options available once they receive a diagnosis. This could also be an issue if individuals without known health problems (healthy cohorts) undergo genomic sequencing and find out that they have an elevated risk of a disease, but no preventive action can be taken to manage this risk. With respect to costs, the costs of undertaking genomic tests are only one component of the cost of the overall genomic testing process. The costs that are incurred beyond those associated with the production of genomic information (so probably beyond the scope of any national tariffs that might be generated) include the costs of bioinformatics analysis, interpretation of results in multidisciplinary team (MDT) meetings and genetic counselling services. Such issues have raised questions about whether or not genomics is exceptional for health economists - possibly not, but the combined issues perhaps lead to it often requiring additional attention. There is also a consideration of the importance of accounting for the 'personal' when evaluating personalized medicine and considers the extent to which extra-welfarist and welfarist approaches to economic evaluation achieve this objective. Extra-welfarist approaches are currently used by many health technology assessment agencies but may not capture all of the outcomes that are important to patients in this context. Extensions to the extra-welfarist approach that might better capture the 'personal' are outlined, including multi-criteria decision analysis and the capability approach. Evidence A recent literature review identified only 36 economic evaluations of either WGS or WES, six of which were cost-effectiveness analyses using diagnostic yield as the outcome measure. Only two publications presented cost-utility analyses using quality-adjusted life-years (QALYs) as the measure of health outcomes. HTA agencies generally require data on survival and quality of life when evaluating new healthcare interventions, which, when combined, allow clinical utility to be quantified using QALYs. However, existing studies have primarily quantified the clinical utility of genomic tests in terms of changes in diagnostic yield. Methodological uncertainty among health economists is one potential explanation for the lack of evidence on the health outcomes associated with genomic sequencing. Over the past decade, health economists have repeatedly questioned whether metrics such as the QALY in genomic medicine, which focuses on clinical utility, can fully quantify the outcomes that are important to patients when they undergo genomic testing. Policy picture There are high-level discussions in several countries, including the UK, about extending the use of genomic sequencing into newborning screening, so effectively screening everyone at birth for a large range of conditions, far more than those currently being screened for and which there might not be treatments for yet. This is in addition to long term epidemiological and health economic discussions on using newborn screening for conditions such as hereditary hemochromatosis. A further area of uncertainty is the use of genomic sequencing in 'healthy populations', including direct to consumer testing (private genetic tests). In a public health care system setting, the UK Department of health is exploring the value of establishing a healthy cohort of volunteer. Furthermore, research studies are assessing the costs and effects of polygenetic risk scores in the context of primary care as an opportunistic 'health check' approach, which could incorporate risks for cardiovascular disease, diabetes, different cancers and conditions such as chrohn's disease etc. Clearly, there are health economic questions to be asked about the downstream costs and consequences of genomic tests in these newborn and 'healthy' populations. In cancer, there are discussions about how to handle the new invention of agnostic cancer drugs (which essentially target the mutation rather than the cancer, so the same drug can treat several cancers). This is an area where assessments are going through HTA agencies who are unsure about the best approaches to adopt to these assessments where drug companies are putting forward a drug for assessment that can potentially treat different cancers with very different disease profiles. These developments require careful consideration from many perspectives, including health economics. Besides highlighting some of the challenges in assessing the economic impact of genomic medicine and the use of advanced (and less advanced) technologies, the book will propose potential solutions to these key challenges. For example, in terms of data availability, one obstacle to translating genomic sequencing into routine health care has been a lack of large randomised controlled clinical trials data for health economists and others to use to populate cost-effectiveness analyses (CEAs). Arguably, in response, reimbursement decisions have moved towards lower evidentiary standards, with the development of managed access programs that hope to balance the intense pressure for patient access with the need to consider the sustainability objectives of health care systems. Single arm trials are common for assessing clinical utility of precision medicine. By excluding a counterfactual, these trials introduce outcomes uncertainty through their inability to establish causal treatment effects. In this section of the book, we illustrate the application of quasi-experimental methods for evaluating precision medicine in case studies linking real-world big data and single arm trials. A further potential option here might be provided by 'big data' can be used to partially support CEAs in genomics. Advanced genomic sequencing is considered to be a prominent example of big data because of the quantity and complexity of data it produces and because it presents an opportunity to use powerful information sources that could reduce clinical and health economic uncertainty at a patient level. The creation of large national sequencing initiatives with sequencing data linked to clinical data (including health outcomes) and resource use data such as hospital episode statistics data and claims data. Large-scale sequencing projects such as the 100,000 Genome Project in the UK and the All of Us Program in the US are collecting an unprecedented amount of genomic, clinical and healthcare resource use data on individuals with cancer or rare diseases, as well as healthy individuals. Some of these large-scale projects are now approaching completion, and national health services are deciding whether WGS and WES should be translated into clinical practice for specific disorders.
Economic Evaluation In Genomic And Precision Medicine
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Author :
language : en
Publisher: Academic Press
Release Date : 2023-04-19
Economic Evaluation In Genomic And Precision Medicine written by and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-04-19 with Medical categories.
Economic Evaluation in Genomic and Precision Medicine provides an in-depth examination of essential concepts, protocols and applications of economic evaluation in genomic and precision medicine. Contributions from leading international medical geneticists and health economists compile new ways to effectively assess the costs and outcomes of different genomic care pathways, implement cost-effective medical interventions, and enhance the value of genomic and precision healthcare. Foundational chapters and discipline-specific case studies cover topics ranging from the economic analysis of genomic trial design, to health technology assessment of next-generation sequencing, ethical aspects, economic policy in genomic medicine, and pricing and reimbursement in clinical genomics. Introduces clinicians, researchers and students to essential concepts, protocols and applications of economic evaluation in genomic and precision medicine Demonstrates, through foundational chapters and discipline-specific case studies, how to assess the relative costs and outcomes of different genomic care pathways and implement cost-effective budgets Establishes clear precedents on how genomic technologies can be leveraged to simultaneously reduce costs and enhance the value of healthcare Features contributions from leading international medical geneticists and health economists that are actively evolved in economic assessments of genomic and precision medicine
Systems For Research And Evaluation For Translating Genome Based Discoveries For Health
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Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 2009-12-10
Systems For Research And Evaluation For Translating Genome Based Discoveries For Health written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-12-10 with Medical categories.
With the advent of genome-wide association studies, numerous associations between specific gene loci and complex diseases have been identified-for breast cancer, coronary artery disease, and asthma, for example. This rapidly advancing field of genomics has stirred great interest in "personalized" health care from both the public and private sectors. The hope is that using genomic information in clinical care will lead to reduced health care costs and improved health outcomes as therapies are tailored to the genetic susceptibilities of patients. A variety of genetically based health care innovations have already reached the marketplace, but information about the clinical use of these treatments and diagnostics is limited. Currently data do not provide information about how a genomic test impacts clinical care and patient health outcomes-other approaches are needed to garner such information. This volume summarizes a workshop to address central questions related to the development of systems to evaluate clinical use of health care innovations that stem from genome-based research: What are the practical realities of creating such systems? What different models could be used? What are the strengths and weaknesses of each model? How effectively can such systems address questions about health outcomes?
An Evidence Framework For Genetic Testing
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Author : National Academies of Sciences, Engineering, and Medicine
language : en
Publisher: National Academies Press
Release Date : 2017-04-21
An Evidence Framework For Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-04-21 with Medical categories.
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.
Dna Sequencing
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Author : Anjana Munshi
language : en
Publisher:
Release Date : 2012
Dna Sequencing written by Anjana Munshi and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012 with categories.
This book illustrates methods of DNA sequencing and its application in plant, animal and medical sciences. It has two distinct sections. The one includes 2 chapters devoted to the DNA sequencing methods and the second includes 6 chapters focusing on various applications of this technology. The content of the articles presented in the book is guided by the knowledge and experience of the contributing authors. This book is intended to serve as an important resource and review to the researchers in the field of DNA sequencing.
Using Nursing Research To Shape Health Policy
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Author : Patricia A. Grady, PhD, RN, FAAN
language : en
Publisher: Springer Publishing Company
Release Date : 2017-03-15
Using Nursing Research To Shape Health Policy written by Patricia A. Grady, PhD, RN, FAAN and has been published by Springer Publishing Company this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-03-15 with Medical categories.
Examining the crucial interrelationship between nursing research and health policy, this book presents examples of specific health care policy that has been influenced, implemented, or changed as a result of nursing research. It builds on the discussion of this relationship as described in the editors' earlier book, Shaping Health Policy through Nursing Research, named a Doody's Core Title in 2013 and an AJN Book of the Year in 2011. This current edition updates earlier information with new nursing research by esteemed scholars. It encompasses research related to major policy statements of the decade, including the IOM Future of Nursing report, the Affordable Care Act, and the Blueprint for Genomics in Nursing, and highlights how they have influenced, and will continue to influence, health policy. Written for multiple audiences including undergraduate and graduate students, faculty, and nursing professionals, the book presents information on how science shapes health policy in general, models and strategies for linking research and health policy, and multiple examples of how major nursing research has influenced health policy. The text provides both a conceptual orientation and an operational approach to strategies linking research to policy and influencing policy makers at the organizational, community, state, national, and international levels. Key Features: Offers examples of cutting edge nursing research that provides a foundation for practice and policy Incorporates major policy directives of this decade and highlights how nursing research has influenced health policy Demonstrates to undergraduate and graduate students, faculty, and nursing professionals how nursing research can shape health policy decisions Includes perspectives, models and strategies for using nursing research to influence health policy Addresses how nursing research shapes policy at organizational, community, state, national, and international levels
Evolution Of Translational Omics
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Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 2012-09-13
Evolution Of Translational Omics written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-09-13 with Science categories.
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.
Genomic And Precision Medicine
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Author : Geoffrey S. Ginsburg
language : en
Publisher: Academic Press
Release Date : 2017-03-30
Genomic And Precision Medicine written by Geoffrey S. Ginsburg and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-03-30 with Science categories.
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