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Understanding Disparities in Access to Genomic Medicine

Understanding Disparities in Access to Genomic Medicine
Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
Total Pages: 127
Release: 2019-01-28
Genre: Medical
ISBN: 0309485258

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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.


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
Publisher: National Academies Press
Total Pages: 151
Release: 2018-06-16
Genre: Medical
ISBN: 0309473411

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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.


Educating Health Professionals in Genomic Medicine: Evidence-Based Strategies and Approaches

Educating Health Professionals in Genomic Medicine: Evidence-Based Strategies and Approaches
Author: Sylvia Ann Metcalfe
Publisher: Frontiers Media SA
Total Pages: 129
Release: 2020-10-09
Genre: Medical
ISBN: 2889660591

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This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.


Translational Cardiometabolic Genomic Medicine

Translational Cardiometabolic Genomic Medicine
Author: Annabelle Rodriguez-Oquendo
Publisher: Academic Press
Total Pages: 354
Release: 2015-09-07
Genre: Science
ISBN: 0128004746

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Translational Cardiometabolic Genomic Medicine, edited by Dr. Annabelle Rodriguez-Oquendo, is an important resource to postgraduate (medical, dental and graduate) students, postdoctoral fellows, basic scientists, and physician scientists seeking to understand and expand their knowledge base in the field of genomic medicine as it is applied to cardiometabolic diseases. This handbook integrates cutting-edge experimental approaches such as chromatin immunoprecipitation paired end tagging (CHIA-PET), to population studies such as the Multi-Ethnic Study of Atherosclerosis. It encompasses a range of book chapters that highlight bioinformatic approaches to better understanding functionality of the noncoding regions of the human genome to the use of molecular diagnostic testing in predicting increased risk of cardiovascular diseases. Where applicable, this reference also includes chapters related to therapeutic options specifically aligned to molecular targets. Provides comprehensive research on translational genomic medicine Explains state-of-the-art genome editing for stem cells and mouse models with significant relevance to human cardiometabolic disease Includes discussions on the functional effects of single nucleotide polymorphisms and cardiometabolic diseases, stratified by sex and race Encompasses a range of book chapters that highlight bioinformatic approaches to better understanding functionality of the noncoding regions of the human genome


The Promises and Perils of Digital Strategies in Achieving Health Equity

The Promises and Perils of Digital Strategies in Achieving Health Equity
Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
Total Pages: 83
Release: 2016-07-22
Genre: Medical
ISBN: 0309438918

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Health care is in the midst of a dramatic transformation in the United States. Spurred by technological advances, economic imperatives, and governmental policies, information technologies are rapidly being applied to health care in an effort to improve access, enhance quality, and decrease costs. At the same time, the use of technologies by the consumers of health care is changing how people interact with the health care system and with health information. These changes in health care have the potential both to exacerbate and to diminish the stark disparities in health and well-being that exist among population groups in the United States. If the benefits of technology flow disproportionately to those who already enjoy better coverage, use, and outcomes than disadvantaged groups, heath disparities could increase. But if technologies can be developed and implemented in such a way to improve access and enhance quality for the members of all groups, the ongoing transformation of health care could reduce the gaps among groups while improving health care for all. To explore the potential for further insights into, and opportunities to address, disparities in underserved populations the National Academies of Sciences, Engineering, and Medicine held a workshop in October 2014. The workshop focused on (1) how communities are using digital health technologies to improve health outcomes for racial and ethnic minority populations, (2) how community engagement can improve access to high-quality health information for members of these groups, and (3) on models of successful technology-based strategies to reduce health disparities. This report summarizes the presentations and discussions at the workshop.


Applying an Implementation Science Approach to Genomic Medicine

Applying an Implementation Science Approach to Genomic Medicine
Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
Total Pages: 137
Release: 2016-07-06
Genre: Medical
ISBN: 0309437792

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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.


Implications of Genomics for Public Health

Implications of Genomics for Public Health
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 98
Release: 2005-07-27
Genre: Medical
ISBN: 0309096073

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Genomics is the study of the entire human genome. Genomics explores not only the actions of single genes, but also the interactions of multiple genes with each other and with the environment. As a result, genomics has great potential for improving the health of the public. However, realizing the benefits of genomics requires a systematic evaluation of its potential contributions and an understanding of the information necessary to facilitate the translation of research findings into public health strategies. In October 2004, the Institute of Medicine convened a workshop to discuss major scientific and policy issues related to genomics and public health, examine major supports for and challenges to the translation of genetic research into population health benefits, and suggest approaches for the integration of genomic information into strategies for promoting health and preventing disease. Implications of Genomics for Public Health summarizes the discussions and presentations from this workshop.


Assessing Genomic Sequencing Information for Health Care Decision Making

Assessing Genomic Sequencing Information for Health Care Decision Making
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 126
Release: 2014-08-19
Genre: Medical
ISBN: 0309304970

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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.


Precision Public Health

Precision Public Health
Author: Tarun Weeramanthri
Publisher: Frontiers Media SA
Total Pages: 149
Release: 2018-06-25
Genre:
ISBN: 2889455017

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Precision Public Health is a new and rapidly evolving field, that examines the application of new technologies to public health policy and practice. It draws on a broad range of disciplines including genomics, spatial data, data linkage, epidemiology, health informatics, big data, predictive analytics and communications. The hope is that these new technologies will strengthen preventive health, improve access to health care, and reach disadvantaged populations in all areas of the world. But what are the downsides and what are the risks, and how can we ensure the benefits flow to those population groups most in need, rather than simply to those individuals who can afford to pay? This is the first collection of theoretical frameworks, analyses of empirical data, and case studies to be assembled on this topic, published to stimulate debate and promote collaborative work.


The Science of Health Disparities Research

The Science of Health Disparities Research
Author: Irene Dankwa-Mullan
Publisher: John Wiley & Sons
Total Pages: 548
Release: 2021-03-16
Genre: Science
ISBN: 1119374812

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Integrates the various disciplines of the science of health disparities in one comprehensive volume The Science of Health Disparities Research is an indispensable source of up-to-date information on clinical and translational health disparities science. Building upon the advances in health disparities research over the past decade, this authoritative volume informs policies and practices addressing the diseases, disorders, and gaps in health outcomes that are more prevalent in minority populations and socially disadvantaged communities. Contributions by recognized scholars and leaders in the field—featuring contemporary research, conceptual models, and a broad range of scientific perspectives—provide an interdisciplinary approach to reducing inequalities in population health, encouraging community engagement in the research process, and promoting social justice. In-depth chapters help readers better understand the specifics of minority health and health disparities while demonstrating the importance of advancing theory, refining measurement, improving investigative methods, and diversifying scientific research. In 26 chapters, the book examines topics including the etiology of health disparities research, the determinants of population health, research ethics, and research in African American, Asians, Latino, American Indian, and other vulnerable populations. Providing a unified framework on the principles and applications of the science of health disparities research, this important volume: Defines the field of health disparities science and suggests new directions in scholarship and research Explains basic definitions, principles, and concepts for identifying, understanding and addressing health disparities Provides guidance on both conducting health disparities research and translating the results Examines how social, historical and contemporary injustices may influence the health of racial and ethnic minorities Illustrates the increasing national and global importance of addressing health disparities Discusses population health training, capacity-building, and the transdisciplinary tools needed to advance health equity A significant contribution to the field, The Science of Health Disparities Research is an essential resource for students and basic and clinical researchers in genetics, population genetics, and public health, health care policymakers, and epidemiologists, medical students, and clinicians, particularly those working with minority, vulnerable, or underserved populations.