Roundtable on Genomics and Precision Health

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Clinical practice guidelines are condition- or disease-specific recommendations for the appropriate health care management of patients. Because guidelines can differ between different organizations, the National Academies Roundtable on Genomics and Precision Health and National Cancer Policy Forum hosted a public workshop in October 2024 to explore how clinical guidelines can impact the adoption and coverage of genomic testing in routine medical care.

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14 pages · 8.5 x 11 ·
ISBN Ebook: 0-309-73082-1
DOI: https://doi.org/10.17226/28572

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National Academies of Sciences, Engineering, and Medicine. 2025. Exploring Clinical Guidelines for the Adoption of Genomic Testing: Proceedings of a Workshop—in Brief. Washington, DC: The National Academies Press.

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Historical unethical practices such as systemic racism and structural discrimination have negatively impacted the trustworthiness of genomics research, particularly with underrepresented populations. Working collaboratively with populations through community engagement can improve the quality of the science and the research benefits to the communities. The National Academies Roundtable on Genomics and Precision Health held a July 2024 workshop to explore the challenges and opportunities for long-term, sustained community engagement and partnerships in genomics research.

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13 pages · 8.5 x 11 ·
ISBN Ebook: 0-309-72926-2
DOI: https://doi.org/10.17226/28044

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National Academies of Sciences, Engineering, and Medicine. 2024. Sustaining Community Engagement in Genomics Research: Proceedings of a Workshop—in Brief. Washington, DC: The National Academies Press.

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Pilot programs are employing whole genome sequencing and whole exome sequencing during the newborn phase both within the United States and internationally. While sequencing offers the opportunity to screen for treatable but not clinically evident conditions early in a childs life, it raises a host of ethical, legal, and social questions for experts, including parents, to consider. The National Academies Roundtable on Genomics and Precision Health hosted experts from health care, industry, academia, the federal and state governments, and patient and consumer advocacy groups for a June 2023 workshop. Participants explored the potential benefits and harms, data security, and health equity considerations for the widespread utilization of newborn genome sequencing in the U.S. This publication summarizes the presentation and discussion of the workshop.

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Infographic

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13 pages · 8.5 x 11 ·
ISBN Ebook: 0-309-71033-2
DOI: https://doi.org/10.17226/27243

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National Academies of Sciences, Engineering, and Medicine. 2023. The Promise and Perils of Next-Generation DNA Sequencing at Birth: Proceedings of a Workshop—in Brief. Washington, DC: The National Academies Press.

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Where people live can affect their health because of location-specific exposure to chemicals and toxicants, lifestyle, diet, immune function development, and social and historical determinants of health. A better understanding of the connections between environmental exposures and genetics that are associated with cancer can help inform efforts to identify risks and prevent potentially harmful outcomes. Recent scientific advancements have brought new insights into genomic and epigenomic biomarkers of cancer, which encompasses the toxicogenomic effects of environmental hazards, genetic susceptibility to environmental exposures, and the role of genetic and epigenetic changes in the development of cancer. Public communication around the potential risks of environmental hazards has also been evolving. The National Academies of Sciences, Engineering, and Medicine National Cancer Policy Forum convened a virtual public workshop in collaboration with the Roundtable on Genomics and Precision Health on April 13, 2023 to explore the state of the science in identifying potential genomic and epigenomic biomarkers of environmental exposures associated with cancers, with an emphasis on pediatric cancers. This proceedings document summarizes workshop discussions.

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66 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-70808-7
ISBN Ebook: 0-309-70809-5
DOI: https://doi.org/10.17226/27201

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National Academies of Sciences, Engineering, and Medicine. 2023. The Potential Contribution of Cancer Genomics Information to Community Investigations of Unusual Patterns of Cancer: Proceedings of a Workshop. Washington, DC: The National Academies Press.

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The National Academies Roundtable on Genomics and Precision Health, in collaboration with the National Cancer Policy Forum, hosted a public workshop that examined how genomic data are used in health care, outside of the traditional settings for clinical genetics. The workshop identified opportunities for advancement of precision health care delivery. The event also explored how patients, clinicians, and payers assess and act upon the risks and benefits of genomic screening and diagnostic testing. Discussions focused on strategies to ensure that genomic applications are responsibly and equitably adopted to benefit populations as well as individuals over time. This Proceedings of a Workshop summarizes content from the event.

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114 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-70115-5
ISBN Ebook: 0-309-70116-3
DOI: https://doi.org/10.17226/26917

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National Academies of Sciences, Engineering, and Medicine. 2023. Realizing the Potential of Genomics across the Continuum of Precision Health Care: Proceedings of a Workshop. Washington, DC: The National Academies Press.

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In 2020, as part of its strategic planning initiative, the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine decided to explore four action-oriented focus areas for its activities over the coming three to five years: driving innovation, shaping the policy dialogue, spurring the adoption of tools and approaches, and achieving equity. The roundtable began its exploration of the fourth thematic area - achieving equity in genomics and precision health - by holding a public workshop on October 5, 2021.

The workshop, Improving Diversity of the Genomics Workforce, examined the current state of diversity of the genetics and genomics workforce; the structural and social factors associated with the lack of workforce diversity; the impact of diversity in the workforce on access to genetic services and patient outcomes; and possible actions that could lead to a more diverse, equitable, and inclusive genomics workforce. This Proceedings of a Workshop-in Brief highlights the presentations and discussions that occurred during the workshop.

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12 pages · 8.5 x 11 ·
ISBN Ebook: 0-309-27817-1
DOI: https://doi.org/10.17226/26478

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National Academies of Sciences, Engineering, and Medicine. 2022. Improving Diversity of the Genomics Workforce: Proceedings of a Workshop—in Brief. Washington, DC: The National Academies Press.

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On March 24, 2020, a 1-day public workshop titled The Role of Digital Health Technologies in Drug Development was convened by the National Academies of Sciences, Engineering, and Medicine. This workshop builds on prior efforts to explore how virtual clinical trials facilitated by digital health technologies (DHTs) might change the landscape of drug development. To explore the challenges and opportunities in using DHTs for improving the probability of success in drug R&D, enabling better patient care, and improving precision medicine, the workshop featured presentations and panel discussions on the integration of DHTs across all phases of drug development. Throughout the workshop, participants considered how DHTs could be applied to achieve the greatest impact—and perhaps even change the face of how clinical trials are conducted—in ways that are also ethical, equitable, safe, and effective. This publication summarizes the presentations and discussions from the workshop.

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Interactive Overview

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142 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-67959-1
ISBN Ebook: 0-309-67960-5
DOI: https://doi.org/10.17226/25850

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National Academies of Sciences, Engineering, and Medicine. 2020. The Role of Digital Health Technologies in Drug Development: Proceedings of a Workshop. Washington, DC: The National Academies Press.

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On November 18 and 19, 2019, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop in Washington, DC, titled Sharing Clinical Trial Data: Challenges and a Way Forward. The workshop followed the release of the 2015 Institute of Medicine (IOM) consensus study report Sharing Clinical Trial Data: Maximizing Benefits, Minimizing Risk, and was designed to examine the current state of clinical trial data sharing and reuse and to consider ways in which policy, technology, incentives, and governance could be leveraged to further encourage and enhance data sharing. This publication summarizes the presentations and discussions from the workshop.

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Interactive Overview

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162 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-67915-X
ISBN Ebook: 0-309-67916-8
DOI: https://doi.org/10.17226/25838

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National Academies of Sciences, Engineering, and Medicine. 2020. Reflections on Sharing Clinical Trial Data: Challenges and a Way Forward: Proceedings of a Workshop. Washington, DC: The National Academies Press.

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Consumer genomics, encompassing both direct-to-consumer applications (i.e., genetic testing that is accessed by a consumer directly from a commercial company apart from a health care provider) and consumer-driven genetic testing (i.e., genetic testing ordered by a health care provider in response to an informed patient request), has evolved considerably over the past decade, moving from more personal utility-focused applications outside of traditional health care to interfacing with clinical care in nontraditional ways. As consumer genomics has increasingly intersected with clinical applications, discussions have arisen around the need to demonstrate clinical and analytical validity and clinical utility due to the potential for misinterpretation by consumers. Clinical readiness and interest for this information have presented educational and training challenges for providers. At the same time, consumer genomics has emerged as a potentially innovative mechanism for thinking about health literacy and engaging participants in their health and health care.

To explore the current landscape of consumer genomics and the implications for how genetic test information is used or may be used in research and clinical care, the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine hosted a public workshop on October 29, 2019, in Washington, DC. Discussions included such topics as the diversity of participant populations, the impact of consumer genomics on health literacy and engagement, knowledge gaps related to the use of consumer genomics in clinical care, and regulatory and health policy issues such as data privacy and security. A broad array of stakeholders took part in the workshop, including genomics and consumer genomics experts, epidemiologists, health disparities researchers, clinicians, users of consumer genomics research applications, representatives from patient advocacy groups, payers, bioethicists, regulators, and policy makers. This publication summarizes the presentations and discussion of the workshop.

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112 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-67303-8
ISBN Ebook: 0-309-67304-6
DOI: https://doi.org/10.17226/25713

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National Academies of Sciences, Engineering, and Medicine. 2020. Exploring the Current Landscape of Consumer Genomics: Proceedings of a Workshop. Washington, DC: The National Academies Press.

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Sharing knowledge is what drives scientific progress - each new advance or innovation in biomedical research builds on previous observations. However, for experimental findings to be broadly accepted as credible by the scientific community, they must be verified by other researchers. An essential step is for researchers to report their findings in a manner that is understandable to others in the scientific community and provide sufficient information for others to validate the original results and build on them. In recent years, concern has been growing over a number of studies that have failed to replicate previous results and evidence from larger meta-analyses, which have pointed to the lack of reproducibility in biomedical research.

On September 25 and 26, 2019, the National Academies of Science, Engineering, and Medicine hosted a public workshop in Washington, DC, to discuss the current state of transparency in the reporting of preclinical biomedical research and to explore opportunities for harmonizing reporting guidelines across journals and funding agencies. Convened jointly by the Forum on Drug Discovery, Development, and Translation; the Forum on Neuroscience and Nervous System Disorders; the National Cancer Policy Forum; and the Roundtable on Genomics and Precision Health, the workshop primarily focused on transparent reporting in preclinical research, but also considered lessons learned and best practices from clinical research reporting. This publication summarizes the presentation and discussion of the workshop.

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Infographic: Enhancing Scientific Reproducibility in Biomedical Research Through Transparent Reporting

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142 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-66349-0
ISBN Ebook: 0-309-66350-4
DOI: https://doi.org/10.17226/25627

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National Academies of Sciences, Engineering, and Medicine. 2020. Enhancing Scientific Reproducibility in Biomedical Research Through Transparent Reporting: Proceedings of a Workshop. Washington, DC: The National Academies Press.

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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.

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126 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-48525-8
ISBN Ebook: 0-309-48526-6
DOI: https://doi.org/10.17226/25277

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National Academies of Sciences, Engineering, and Medicine. 2018. Understanding Disparities in Access to Genomic Medicine: Proceedings of a Workshop. Washington, DC: The National Academies Press.

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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.

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150 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-47341-1
ISBN Ebook: 0-309-47342-X
DOI: https://doi.org/10.17226/25048

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National Academies of Sciences, Engineering, and Medicine. 2018. Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop. Washington, DC: The National Academies Press.

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Those involved in the drug development process face challenges of efficiency and overall sustainability due in part to high research costs, lengthy development timelines, and late-stage drug failures. Novel clinical trial designs that enroll participants based on their genetics represent a potentially disruptive change that could improve patient outcomes, reduce costs associated with drug development, and further realize the goals of precision medicine.

On March 8, 2017, the Forum on Drug Discovery, Development, and Translation and the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine hosted the workshop Enabling Precision Medicine: The Role of Genetics in Clinical Drug Development. Participants examined successes, challenges, and possible best practices for effectively using genetic information in the design and implementation of clinical trials to support the development of precision medicines, including exploring the potential advantages and disadvantages of such trials across a variety of disease areas. This publication summarizes the presentations and discussions from the workshop.

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144 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-46263-0
ISBN Ebook: 0-309-46264-9
DOI: https://doi.org/10.17226/24829

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National Academies of Sciences, Engineering, and Medicine. 2017. Enabling Precision Medicine: The Role of Genetics in Clinical Drug Development: Proceedings of a Workshop. Washington, DC: The National Academies Press.

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The process of discovering and developing a new drug or therapy is extremely costly and time consuming, and recently, it has been estimated that the creation of a new medicine costs on average more than $2 billion and takes 10 years to reach patients. The challenges associated with bringing new medicines to market have led many pharmaceutical companies to seek out innovative methods for streamlining their drug discovery research.

One way to increase the odds of success for compounds in the drug development pipeline is to adopt genetically guided strategies for drug discovery, and recognizing the potential benefits of collecting genetic and phenotypic information across specific populations, pharmaceutical companies have started collaborating with healthcare systems and private companies that have curated genetic bioresources, or large databases of genomic information. Large-scale cohort studies offer an effective way to collect and store information that can be used to assess gene–environment interactions, identify new potential drug targets, understand the role of certain genetic variants in the drug response, and further elucidate the underlying mechanisms of disease onset and progression.

To examine how genetic bioresources could be used to improve drug discovery and target validation, the National Academies of Sciences, Engineering, and Medicine hosted a workshop in March 2016. Participants at the workshop explored the current landscape of genomics-enabled drug discovery activities in industry, academia, and government; examined enabling partnerships and business models; and considered gaps and best practices for collecting population data for the purpose of improving the drug discovery process. This publication summarizes the presentations and discussions from the workshop.

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114 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-44778-X
ISBN Ebook: 0-309-44779-8
DOI: https://doi.org/10.17226/23601

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National Academies of Sciences, Engineering, and Medicine. 2016. Deriving Drug Discovery Value from Large-Scale Genetic Bioresources: Proceedings of a Workshop. Washington, DC: The National Academies Press.

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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.

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136 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-43776-8
ISBN Ebook: 0-309-43777-6
DOI: https://doi.org/10.17226/23403

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National Academies of Sciences, Engineering, and Medicine. 2016. Applying an Implementation Science Approach to Genomic Medicine: Workshop Summary. Washington, DC: The National Academies Press.

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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.

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116 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-37112-0
ISBN Ebook: 0-309-37113-9
DOI: https://doi.org/10.17226/21707

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Institute of Medicine. 2015. Genomics-Enabled Learning Health Care Systems: Gathering and Using Genomic Information to Improve Patient Care and Research: Workshop Summary. Washington, DC: The National Academies Press.

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Many health care providers do not have either the knowledge or the tools they need in order to apply genetic information in their day-to-day practices. This lack of support is contributing to a substantial delay in the translation of genetic research findings, when appropriate, into improvement in patient outcomes within the health care system. Although the need to improve genetics knowledge among health care providers is clear, the best approaches to educating health care providers in a way that produces meaningful changes in clinical practice are not, especially given the competing coursework and training needs that exist in today's increasingly complex health care settings.

To examine the potential and the challenges of providing genetics education, the Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine hosted a workshop on August 18, 2014. The workshop examined a variety of approaches that could improve the teaching of genetics in the graduate and continuing education of health professionals; these approaches included online and interactive instruction, just-in-time approaches, the development of clinical decision-support tools, and the incorporation of genetics requirements into licensing and accreditation. This report summarizes the presentations and discussion of the event.

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120 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-31605-7
ISBN Ebook: 0-309-31606-5
DOI: https://doi.org/10.17226/18992

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Institute of Medicine. 2015. Improving Genetics Education in Graduate and Continuing Health Professional Education: Workshop Summary. Washington, DC: The National Academies Press.

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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.

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126 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-30494-6
ISBN Ebook: 0-309-30495-4
DOI: https://doi.org/10.17226/18799

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Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press.

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Drug development can be time-consuming and expensive. Recent estimates suggest that, on average, it takes 10 years and at least $1 billion to bring a drug to market. Given the time and expense of developing drugs de novo, pharmaceutical companies have become increasingly interested in finding new uses for existing drugs - a process referred to as drug repurposing or repositioning.

Historically, drug repurposing has been largely an unintentional, serendipitous process that took place when a drug was found to have an offtarget effect or a previously unrecognized on-target effect that could be used for identifying a new indication. Perhaps the most recognizable example of such a successful repositioning effort is sildenafil. Originally developed as an anti-hypertensive, sildenafil, marketed as Viagra and under other trade names, has been repurposed for the treatment of erectile dysfunction and pulmonary arterial hypertension. Viagra generated more than $2 billion worldwide in 2012 and has recently been studied for the treatment of heart failure.

Given the widespread interest in drug repurposing, the Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine hosted a workshop on June 24, 2013, in Washington, DC, to assess the current landscape of drug repurposing activities in industry, academia, and government. Stakeholders, including government officials, pharmaceutical company representatives, academic researchers, regulators, funders, and patients, were invited to present their perspectives and to participate in workshop discussions. Drug Repurposing and Repositioning is the summary of that workshop. This report examines enabling tools and technology for drug repurposing; evaluates the business models and economic incentives for pursuing a repurposing approach; and discusses how genomic and genetic research could be positioned to better enable a drug repurposing paradigm.

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118 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-30204-8
ISBN Ebook: 0-309-30205-6
DOI: https://doi.org/10.17226/18731

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Institute of Medicine. 2014. Drug Repurposing and Repositioning: Workshop Summary. Washington, DC: The National Academies Press.

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Scientific advances such as the sequencing of the human genome have created great promise for improving human health by providing a greater understanding of disease biology and enabling the development of new drugs, diagnostics, and preventive services. However, the translation of research advances into clinical applications has so far been slower than anticipated. This is due in part to the complexity of the underlying biology as well as the cost and time it takes to develop a product. Pharmaceutical companies are adapting their business models to this new reality for product development by placing increasing emphasis on leveraging alliances, joint development efforts, early-phase research partnerships, and public-private partnerships. These collaborative efforts make it possible to identify new drug targets, enhance the understanding of the underlying basis of disease, discover novel indications for the use of already approved products, and develop biomarkers for disease outcomes or directed drug use. While the potential benefits of collaboration are significant, the fact that the relationships among development partners are often financial means that it is vital to ensure trust by identifying, disclosing, and managing any potential sources of conflict that could create bias in the research being performed together.

Conflict of Interest and Medical Innovation is the summary of a workshop convened by the Institute of Medicine Roundtable on Translating Genomic-Based Research for Health in June 2013 to explore the appropriate balance between identifying and managing conflicts of interest and advancing medical innovation. A wide range of stakeholders, including government officials, pharmaceutical company representatives, academic administrators and researchers, health care providers, medical ethicists, patient advocates, and consumers, were invited to present their perspectives and participate in discussions during the workshop. This report focuses on current conflict of interest policies and their effect on medical innovation in an effort to identify best practices and potential solutions for facilitating innovation while still ensuring scientific integrity and public trust.

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98 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-30168-8
ISBN Ebook: 0-309-30169-6
DOI: https://doi.org/10.17226/18723

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Institute of Medicine. 2014. Conflict of Interest and Medical Innovation: Ensuring Integrity While Facilitating Innovation in Medical Research: Workshop Summary. Washington, DC: The National Academies Press.

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Many drug developers have examined new strategies for creating efficiencies in their development processes, including the adoption of genomics-based approaches. Genomic data can identify new drug targets for both common and rare diseases, can predict which patients are likely to respond to a specific treatment, and has the potential to significantly reduce the cost of clinical trials by reducing the number of patients that must be enrolled in order to demonstrate safety and efficacy. A key component of the approval of targeted therapeutics is the ability to identify the population of patients who will benefit from treatment, and this has largely hinged on the co-development and co-submission to the FDA of a companion diagnostic test.The co-development process, or the development of the test and drug for the simultaneous submission to FDA, has led to a major alteration in the way that drugs are being developed, with traditionally separate entities—pharmaceutical and diagnostic companies—now working in close collaboration.

Refining Processes for the Co-Development of Genome-Based Therapeutics and Companion Diagnostic Tests is the summary of a workshop held by the Roundtable on Translating Genomic-Based Research for Health on February 27, 2013 to examine and discuss challenges and potential solutions for the codevelopment of targeted therapeutics and companion molecular tests for the prediction of drug response. Prior to the workshop, key stakeholders, including laboratory and medical professional societies, were individually asked to provide possible solutions to resolve the concerns raised about co-development of companion diagnostic tests and therapies. Workshop speakers were charged with addressing these solutions in their presentations by providing insight on (1) whether the proposed solutions address the problems described, (2) whether there are other solutions to propose, and (3) what steps could be taken to effectively implement the proposed solutions.

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102 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-29821-0
ISBN Ebook: 0-309-29822-9
DOI: https://doi.org/10.17226/18617

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Institute of Medicine. 2014. Refining Processes for the Co-Development of Genome-Based Therapeutics and Companion Diagnostic Tests: Workshop Summary. Washington, DC: The National Academies Press.

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The process for translating basic science discoveries into clinical applications has historically involved a linear and lengthy progression from initial discovery to preclinical testing, regulatory evaluation and approval, and, finally, use in clinical practice. The low rate of translation from basic science to clinical application has been a source of frustration for many scientists, clinicians, investors, policy makers, and patients who hoped that investments in research would result in improved products and processes for patients. Some feel that the anticipated deliverables from the Human Genome Project have not yet materialized, and although understanding of human health and disease biology has increased, there has not been a concomitant increase in the number of approved drugs for patients over the past 10 years.

Improving the Efficiency and Effectiveness of Genomic Science Translation is the summary of a workshop convened by the Institute of Medicine Roundtable on Translating Genomic-Based Research for Health in December 2012 to explore ways to improve the efficiency and effectiveness of the translation of genomic science to clinical practice. The workshop convened academic researchers, industry representatives, policy makers, and patient advocates to explore obstacles to the translation of research findings to clinical practice and to identify opportunities to support improvement of the early stages of the process for translation of genetic discoveries. This report discusses the realignment of academic incentives, the detection of innovative ways to fund translational research, and the generation or identification of alternative models that accurately reflect human biology or disease to provide opportunities to work across sectors to advance the translation of genomic discoveries.

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88 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-29453-3
ISBN Ebook: 0-309-29454-1
DOI: https://doi.org/10.17226/18549

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Institute of Medicine. 2014. Improving the Efficiency and Effectiveness of Genomic Science Translation: Workshop Summary. Washington, DC: The National Academies Press.

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Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology is the summary of a workshop convened in May 2012 by the Roundtable on Translating Genomic-Based Research for Health and the Center for Medical Technology Policy of the Institute of Medicine to foster the identified need for further sustained dialogue between stakeholders regarding the clinical utility of molecular diagnostics. The workshop brought together a wide range of stakeholders, including patients, health care providers, policy makers, payers, diagnostic test developers, researchers, and guideline developers, to identify the challenges and opportunities in advancing the development and use of molecular diagnostic tests designed to guide the treatment and management of patients with cancer.

The sequencing of the human genome has greatly accelerated the process of linking specific genetic variants with disease. These findings have yielded a rapidly increasing number of molecular diagnostic tests designed to guide disease treatment and management. Many of these tests are aimed at determining the best treatments for specific forms of cancer, making oncology a valuable testing ground for the use of molecular diagnostic tests in medicine in general. Nevertheless, many questions surround the clinical value of molecular diagnostic tests, and their acceptance by clinicians, payers, and patients has been unpredictable. A major limiting factor for the use of these tests has been the lack of clear evidence of clinical utility. Genome-Based Diagnostics assesses the evidentiary requirements for clinical utility of molecular diagnostics used to guide treatment decisions for patients with cancer; discusses methodologies related to demonstrating these evidentiary requirements that meet the needs of all stakeholders; and considers innovative, sustainable research collaborations for generating evidence of clinical utility involving multiple stakeholders.

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122 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-26959-8
ISBN Ebook: 0-309-26960-1
DOI: https://doi.org/10.17226/18275

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Institute of Medicine. 2013. Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology: Workshop Summary. Washington, DC: The National Academies Press.

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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.

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128 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-26968-7
ISBN Ebook: 0-309-26970-9
DOI: https://doi.org/10.17226/18276

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Institute of Medicine. 2013. The Economics of Genomic Medicine: Workshop Summary. Washington, DC: The National Academies Press.

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Pharmaceutical companies, academic researchers, and government agencies such as the Food and Drug Administration and the National Institutes of Health all possess large quantities of clinical research data. If these data were shared more widely within and across sectors, the resulting research advances derived from data pooling and analysis could improve public health, enhance patient safety, and spur drug development. Data sharing can also increase public trust in clinical trials and conclusions derived from them by lending transparency to the clinical research process. Much of this information, however, is never shared. Retention of clinical research data by investigators and within organizations may represent lost opportunities in biomedical research. Despite the potential benefits that could be accrued from pooling and analysis of shared data, barriers to data sharing faced by researchers in industry include concerns about data mining, erroneous secondary analyses of data, and unwarranted litigation, as well as a desire to protect confidential commercial information. Academic partners face significant cultural barriers to sharing data and participating in longer term collaborative efforts that stem from a desire to protect intellectual autonomy and a career advancement system built on priority of publication and citation requirements. Some barriers, like the need to protect patient privacy, pre- sent challenges for both sectors. Looking ahead, there are also a number of technical challenges to be faced in analyzing potentially large and heterogeneous datasets.

This public workshop focused on strategies to facilitate sharing of clinical research data in order to advance scientific knowledge and public health. While the workshop focused on sharing of data from preplanned interventional studies of human subjects, models and projects involving sharing of other clinical data types were considered to the extent that they provided lessons learned and best practices. The workshop objectives were to examine the benefits of sharing of clinical research data from all sectors and among these sectors, including, for example: benefits to the research and development enterprise and benefits to the analysis of safety and efficacy. Sharing Clinical Research Data: Workshop Summary identifies barriers and challenges to sharing clinical research data, explores strategies to address these barriers and challenges, including identifying priority actions and "low-hanging fruit" opportunities, and discusses strategies for using these potentially large datasets to facilitate scientific and public health advances.

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156 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-26874-5
ISBN Ebook: 0-309-26875-3
DOI: https://doi.org/10.17226/18267

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Institute of Medicine. 2013. Sharing Clinical Research Data: Workshop Summary. Washington, DC: The National Academies Press.

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The number of new drug approvals has remained reasonably steady for the past 50 years at around 20 to 30 per year, while at the same time the total spending on health-related research and development has tripled since 1990. There are many suspected causes for this trend, including increases in regulatory barriers, the rising costs of scientific inquiry, a decrease in research and development efficiency, the downstream effects of patient expirations on investment, and the lack of production models that have successfully incorporated new technology. Regardless, this trajectory is not economically sustainable for the businesses involved, and, in response, many companies are turning toward collaborative models of drug development, whether with other industrial firms, academia, or government. Introducing greater efficiency and knowledge into these new models and aligning incentives among participants may help to reverse the trends highlighted above, while producing more effective drugs in the process.

Genome-Based Therapeutics explains that new technologies have the potential to open up avenues of development and to identify new drug targets to pursue. Specifically, improved validation of gene-disease associations through genomics research has the potential to revolutionize drug production and lower development costs. Genetic information has helped developers by increasing their understanding of the mechanisms of disease as well as individual patients' reactions to their medications. There is a need to identify the success factors for the various models that are being developed, whether they are industry-led, academia-led, or collaborations between the two.

Genome-Based Therapeutics summarizes a workshop that was held on March 21, 2012, titled New Paradigms in Drug Discovery: How Genomic Data Are Being Used to Revolutionize the Drug Discovery and Development Process. At this workshop the goal was to examine the general approaches being used to apply successes achieved so far, and the challenges ahead.

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110 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-26024-8
ISBN Ebook: 0-309-26025-6
DOI: https://doi.org/10.17226/13436

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Institute of Medicine. 2012. Genome-Based Therapeutics: Targeted Drug Discovery and Development: Workshop Summary. Washington, DC: The National Academies Press.

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The sequencing of the human genome and the identification of associations between specific genetic variants and diseases have led to an explosion of genomic-based diagnostic tests. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease. As research progresses and an increasing number of associations are found, further tests will be developed that can aid in providing personalized treatment options for patients. However, the adoption of genomic diagnostic tests by health care providers has been limited due to a lack of evidence regarding the clinical utility of many tests. Health funders and practitioners lack the data necessary to distinguish which tests can improve practice or the clinical settings in which tests will provide the greatest value. The Roundtable on Translating Genomic-Based Research for Health held a workshop in November 2010 to determine what evidence is needed and how it is viewed by different stakeholders in order to develop genomic diagnostic tests of clinical value.

Genome-Based Diagnostics summarizes the presentations and discussions that took place throughout the workshop. Two presentations, in particular, sparked extensive discussion. One presentation proposed that all genomic diagnostic tests be reviewed and approved by the Food and Drug Administration. The other observed that venture capitalists are no longer investing substantially in the development of genomic diagnostic tests because of a lack of clarity surrounding regulatory and reimbursement pathways. Both presentations suggested the need for major changes in the systems used to develop, regulate, and reimburse genomic diagnostic tests. The report also presents the perspectives of different stakeholders in the development of genomic diagnostic tests. Each stakeholder group has a different set of needs and issues of importance, yet commonalities among them are apparent, such as the need to put patients and health outcomes at the center of discussion and action.

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104 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-25394-2
ISBN Ebook: 0-309-25395-0
DOI: https://doi.org/10.17226/13359

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Institute of Medicine. 2012. Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary. Washington, DC: The National Academies Press.

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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.

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112 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-22034-3
ISBN Ebook: 0-309-22035-1
DOI: https://doi.org/10.17226/13256

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Institute of Medicine. 2012. Integrating Large-Scale Genomic Information into Clinical Practice: Workshop Summary. Washington, DC: The National Academies Press.

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Ten years after the sequencing of the human genome, scientists have developed genetic tests that can predict a person's response to certain drugs, estimate the risk of developing Alzheimer's disease, and make other predictions based on known links between genes and diseases. However, genetic tests have yet to become a routine part of medical care, in part because there is not enough evidence to show they help improve patients' health.

The Institute of Medicine (IOM) held a workshop to explore how researchers can gather better evidence more efficiently on the clinical utility of genetic tests. Generating Evidence for Genomic Diagnostic Test Development compares the evidence that is required for decisions regarding clearance, use, and reimbursement, to the evidence that is currently generated. The report also addresses innovative and efficient ways to generate high-quality evidence, as well as barriers to generating this evidence.

Generating Evidence for Genomic Diagnostic Test Development contains information that will be of great value to regulators and policymakers, payers, health-care providers, researchers, funders, and evidence-based review groups.

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106 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-21104-2
ISBN Ebook: 0-309-21105-0
DOI: https://doi.org/10.17226/13133

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Institute of Medicine. 2011. Generating Evidence for Genomic Diagnostic Test Development: Workshop Summary. Washington, DC: The National Academies Press.

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Despite the many basic research discoveries in genetics, relatively few gene-based treatments, drugs, or preventative measures have been developed. One way to bridge this gap may be for industry, academia, and government to develop partnerships that share resources while distributing risk. However, intellectual property protections and other barriers can inhibit collaborative efforts. The Institute of Medicine held a workshop on July 22, 2010, to explore these issues and develop solutions.

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90 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-16182-7
ISBN Ebook: 0-309-16183-5
DOI: https://doi.org/10.17226/13015

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Institute of Medicine. 2011. Establishing Precompetitive Collaborations to Stimulate Genomics-Driven Product Development: Workshop Summary. Washington, DC: The National Academies Press.

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Today, scores of companies, primarily in the United States and Europe, are offering whole genome scanning services directly to the public. The proliferation of these companies and the services they offer demonstrate a public appetite for this information and where the future of genetics may be headed; they also demonstrate the need for serious discussion about the regulatory environment, patient privacy, and other policy implications of direct-to-consumer (DTC) genetic testing.

Rapid advances in genetic research already have begun to transform clinical practice and our understanding of disease progression. Existing research has revealed a genetic basis or component for numerous diseases, including Parkinson's disease, Alzheimer's disease, diabetes, heart disease, and several forms of cancer. The availability of the human genome sequence and the HapMap, plummeting costs of high-throughput screening, and increasingly sophisticated computational analyses have led to an explosion of discoveries of linkages between patterns of genetic variation and disease susceptibility. While this research is by no means a straight path toward better public health, improved knowledge of the genetic linkages has the potential to change fundamentally the way health professionals and public health practitioners approach the prevention and treatment of disease. Realizing this potential will require greater sophistication in the interpretation of genetic tests, new training for physicians and other diagnosticians, and new approaches to communicating findings to the public. As this rapidly growing field matures, all of these questions require attention from a variety of perspectives.

To discuss some of the foregoing issues, several units of the National Academies held a workshop on August 31 and September 1, 2009, to bring together a still-developing community of professionals from a variety of relevant disciplines, to educate the public and policy-makers about this emerging field, and to identify issues for future study. The meeting featured several invited presentations and discussions on the many technical, legal, policy, and ethical questions that such DTC testing raises, including: (1) overview of the current state of knowledge and the future research trajectory; (2) shared genes and emerging issues in privacy; (3) the regulatory framework; and (4) education of the public and the medical community.

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106 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-16216-5
ISBN Ebook: 0-309-16217-3
DOI: https://doi.org/10.17226/13021

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Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press.

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Knowing one's genetic disposition to a variety of diseases, including common chronic diseases, can benefit both the individual and society at large. The IOM's Roundtable on Translating Genomic-Based Research for Health held a workshop on March 22, 2010, to bring together diverse perspectives on the value of genetic testing, and to discuss its use in clinical practice.

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108 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-15771-4
ISBN Ebook: 0-309-15772-2
DOI: https://doi.org/10.17226/12947

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Institute of Medicine. 2010. The Value of Genetic and Genomic Technologies: Workshop Summary. Washington, DC: The National Academies Press.

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Newborn screening samples are used to test more than 4 million infants each year for life-threatening diseases that are treatable if found at birth. These specimens also represent a potentially invaluable resource for public health and biomedical research. The IOM held a workshop to examine issues surrounding the use of residual specimens for translational research.

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84 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-15954-7
ISBN Ebook: 0-309-15955-5
DOI: https://doi.org/10.17226/12981

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Institute of Medicine. 2010. Challenges and Opportunities in Using Residual Newborn Screening Samples for Translational Research: Workshop Summary. Washington, DC: The National Academies Press.

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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?

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102 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-13983-X
ISBN Ebook: 0-309-13984-8
DOI: https://doi.org/10.17226/12691

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Institute of Medicine. 2009. Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health: Workshop Summary. Washington, DC: The National Academies Press.

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New discoveries in genomics—that is, the study of the entire human genome—are changing how we diagnose and treat diseases. As the trend shifts from genetic testing largely being undertaken for rare genetic disorders to, increasingly, individuals being screened for common diseases, general practitioners, pediatricians, obstetricians/gynecologists, and other providers need to be knowledgeable about and comfortable using genetic information to improve their patients' health. To address these changes, the Roundtable on Translating Genomic-Based Research for Health held the public workshop "Innovations in Service Delivery in the Age of Genomics" on July 27, 2008.

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80 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-13214-2
ISBN Ebook: 0-309-13215-0
DOI: https://doi.org/10.17226/12601

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Institute of Medicine. 2009. Innovations in Service Delivery in the Age of Genomics: Workshop Summary. Washington, DC: The National Academies Press.

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Until fairly recently, genetic information was used primarily in the diagnosis of relatively rare genetic diseases, such as cystic fibrosis and Huntington's Disease, but a transformation in the use of genetic and genomic information is underway. While many predictions have been made that genomics will transform medicine, to date few of these promising discoveries have resulted in actual applications in medicine and health. The Institute of Medicine's Roundtable on Translating Genomic-Based Research for Health, established in 2007, held its first workshop to address the following questions: 1. Are there different pathways by which new scientific findings move from the research setting into health care? 2. If so, what are the implications of those different pathways for genomics? 3. What can we learn from the translation of other new technologies as we seek to understand the translation of genome science into health care? Information obtained from the workshop was then used to further discussion and exploration of the answers to these questions. This book summarizes speaker presentations and discussions. Any conclusions reported should not be construed as reflecting a group consensus; rather they are the statements and opinions of presenters and participants.

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116 pages · 6 x 9 · paperback
ISBN Paperback: 0-309-11676-7
ISBN Ebook: 0-309-11677-5
DOI: https://doi.org/10.17226/12148

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Institute of Medicine. 2008. Diffusion and Use of Genomic Innovations in Health and Medicine: Workshop Summary. Washington, DC: The National Academies Press.

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Roundtable on Genomics and Precision Health

Exploring Clinical Guidelines for the Adoption of Genomic Testing: Proceedings of a Workshop—in Brief

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