@BOOK{NAP author = "National Academies of Sciences, Engineering, and Medicine", editor = "Kathryn Asalone and Michael Zierler and Sarah H. Beachy", title = "The Promise and Perils of Next-Generation DNA Sequencing at Birth: Proceedings of a Workshop–in Brief", abstract = "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.", url = "https://nap.nationalacademies.org/catalog/27243/the-promise-and-perils-of-next-generation-dna-sequencing-at-birth", year = 2023, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "Institute of Medicine", editor = "Adam C. Berger and Steve Olson", title = "The Economics of Genomic Medicine: Workshop Summary", isbn = "978-0-309-26968-1", abstract = "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.\nIn 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.\nTo 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.", url = "https://nap.nationalacademies.org/catalog/18276/the-economics-of-genomic-medicine-workshop-summary", year = 2013, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "National Academies of Sciences, Engineering, and Medicine", editor = "Siobhan Addie and Meredith Hackmann and Theresa Wizemann and Sarah Beachy", title = "Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop", isbn = "978-0-309-47341-5", abstract = "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. \n\nOn 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.", url = "https://nap.nationalacademies.org/catalog/25048/implementing-and-evaluating-genomic-screening-programs-in-health-care-systems", year = 2018, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "National Academies of Sciences, Engineering, and Medicine", editor = "Lisa Bain and Noam I. Keren and Sheena M. Posey Norris and Clare Stroud", title = "Neuroforensics: Exploring the Legal Implications of Emerging Neurotechnologies: Proceedings of a Workshop", isbn = "978-0-309-47779-6", abstract = "Technological advances in noninvasive neuroimaging, neurophysiology, genome sequencing, and other methods together with rapid progress in computational and statistical methods and data storage have facilitated large-scale collection of human genomic, cognitive, behavioral, and brain-based data. The rapid development of neurotechnologies and associated databases has been mirrored by an increase in attempts to introduce neuroscience and behavioral genetic evidence into legal proceedings.\nIn March 2018, the National Academies of Science, Engineering and Medicine organized a workshop in order to explore the current uses of neuroscience and bring stakeholders from neuroscience and legal societies together in both the United Kingdom and the United States. Participants worked together to advance an understanding of neurotechnologies that could impact the legal system and the state of readiness to consider these technologies and where appropriate, to integrate them into the legal system. This publication summarizes the presentations and discussions from the workshop.", url = "https://nap.nationalacademies.org/catalog/25150/neuroforensics-exploring-the-legal-implications-of-emerging-neurotechnologies-proceedings-of", year = 2018, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP title = "Synthetic Biology: Building on Nature's Inspiration: Interdisciplinary Research Team Summaries", isbn = "978-0-309-14942-6", abstract = "Synthetic biology is an innovative and growing field that unites engineering and biology. It builds on the powerful research that came about as a result of a recombinant DNA technology and genome sequencing. By definition, synthetic biology is an interdisciplinary enterprise comprising biologists of many specialties, engineers, physicists, computer scientists and others. It promises a fundamentally deeper understanding of how living systems work and the capacity to recreate them for medicine, public health and the environment, including renewable energy.\n\nNAKFI Synthetic Biology: Building a Nation's Inspiration discusses new foundational technologies and tools required to make biology easier to engineer, considers ethical issues unique to synthetic biology, explores how synthetic biology can lead to an understanding of the principles underlying natural genetic circuits and debates how synthetic biology can be used to answer fundamental biological questions.\n ", url = "https://nap.nationalacademies.org/catalog/12836/synthetic-biology-building-on-natures-inspiration-interdisciplinary-research-team-summaries", year = 2010, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP editor = "Michael Yudell and Robert DeSalle", title = "The Genomic Revolution: Unveiling the Unity of Life", url = "https://nap.nationalacademies.org/catalog/10125/the-genomic-revolution-unveiling-the-unity-of-life", year = 2002, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "Institute of Medicine", editor = "Theresa Wizemann and Adam C. Berger", title = "Generating Evidence for Genomic Diagnostic Test Development: Workshop Summary", isbn = "978-0-309-21104-8", abstract = "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.\nThe 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.\nGenerating 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.", url = "https://nap.nationalacademies.org/catalog/13133/generating-evidence-for-genomic-diagnostic-test-development-workshop-summary", year = 2011, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "Institute of Medicine", editor = "Sarah H. Beachy and Samuel G. Johnson and Steve Olson and Adam C. Berger", title = "Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary", isbn = "978-0-309-30494-8", abstract = "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.\nTo 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\ndifferent clinical indications and discusses key challenges in the evidence evaluation process.\t\n", url = "https://nap.nationalacademies.org/catalog/18799/assessing-genomic-sequencing-information-for-health-care-decision-making-workshop", year = 2014, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "Institute of Medicine", editor = "Steve Olson and Sarah H. Beachy and Claire F. Giammaria and Adam C. Berger", title = "Integrating Large-Scale Genomic Information into Clinical Practice: Workshop Summary", isbn = "978-0-309-22034-7", abstract = "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.\nWith 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.\nIntegrating 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.", url = "https://nap.nationalacademies.org/catalog/13256/integrating-large-scale-genomic-information-into-clinical-practice-workshop-summary", year = 2012, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP editor = "John Sulston and Georgina Ferry", title = "The Common Thread: A Story of Science, Politics, Ethics, and the Human Genome", abstract = "The world was agog when scientists made the astounding announcement that they had successfully sequenced the human genome. Few contributed so directly to this feat as John Sulston. This is his personal account of one of the largest international scientific operations ever undertaken.\n\nIt was a momentous occasion when British scientist John Sulston embarked on the greatest scientific endeavor of our times: the sequencing of the Human Genome. In The Common Thread, Sulston takes us behind the scenes for an in-depth look at the controversial story behind the headlines. The accomplishments and the setbacks\u2014along with the politics, personalities, and ethics\u2014that shaped the research are frankly explored by a central figure key to the project.\n\nFrom the beginning, Sulston fervently proclaimed his belief in the free and open exchange of the scientific information that would emerge from the project. Guided by these principles, The Human Genome Project was structured so that all the findings were public, encouraging an unparalleled international collaboration among scientists and researchers.\n\nThen, in May 1998, Craig Venter announced that he was quitting the Human Genome Project\u2014with plans to head up a commercial venture launched to bring out the complete sequence three years hence, but marketed in a proprietary database. Venter\u2019s intentions, clearly anathema to Sulston and the global network of scientists working on the Project, marked the beginning of a dramatic struggle to keep the human genome in the public domain.\n\nMore than the story of human health versus corporate wealth, this is an exploration of the very nature of a scientific quest for discovery. Infused with Sulston\u2019s own enthusiasm and excitement, the tale unfolds to reveal the scientists who painstakingly turn the key that will unlock the riddle of the human genome. We are privy to the joy and exuberance of success as well as the stark disappointments posed by inevitable failures. It is truly a wild and wonderful ride. \n\nThe Common Thread is at once a compelling history and an impassioned call for ethical responsibility in scientific research. As the boundaries between science and big business increasingly blur, and researchers race to patent medical discoveries, the international community needs to find a common protocol for the protection of the wider human interest. This extraordinary enterprise is a glimpse of our shared human heritage, offering hope for future research and a fresh outlook on our understanding of ourselves.", url = "https://nap.nationalacademies.org/catalog/10373/the-common-thread-a-story-of-science-politics-ethics-and", year = 2002, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "Institute of Medicine", editor = "Steve Olson and Adam C. Berger", title = "Genome-Based Diagnostics: Clarifying Pathways to Clinical Use: Workshop Summary", isbn = "978-0-309-25394-9", abstract = "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.\n\nGenome-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. ", url = "https://nap.nationalacademies.org/catalog/13359/genome-based-diagnostics-clarifying-pathways-to-clinical-use-workshop-summary", year = 2012, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "Institute of Medicine", editor = "Adam C. Berger and Steve Olson", title = "Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology: Workshop Summary", isbn = "978-0-309-26959-9", abstract = "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.\nThe 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.\n", url = "https://nap.nationalacademies.org/catalog/18275/genome-based-diagnostics-demonstrating-clinical-utility-in-oncology-workshop-summary", year = 2013, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "Institute of Medicine", editor = "Sarah H. Beachy and Adam C. Berger and Steve Olson", title = "Conflict of Interest and Medical Innovation: Ensuring Integrity While Facilitating Innovation in Medical Research: Workshop Summary", isbn = "978-0-309-30168-8", abstract = "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.\nConflict 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.\n", url = "https://nap.nationalacademies.org/catalog/18723/conflict-of-interest-and-medical-innovation-ensuring-integrity-while-facilitating", year = 2014, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP title = "", url = "", year = , publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "National Research Council", title = "Mapping and Sequencing the Human Genome", isbn = "978-0-309-07462-9", abstract = "There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised?\nMapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.", url = "https://nap.nationalacademies.org/catalog/1097/mapping-and-sequencing-the-human-genome", year = 1988, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "National Research Council", title = "Report of the Committee on Mapping and Sequencing the Human Genome", url = "https://nap.nationalacademies.org/catalog/18430/report-of-the-committee-on-mapping-and-sequencing-the-human-genome", year = 1988, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "Institute of Medicine and National Academies of Sciences, Engineering, and Medicine", title = "Roundtable on Translating Genomic-Based Research for Health: 2014 Annual Report", url = "https://nap.nationalacademies.org/catalog/26253/roundtable-on-translating-genomic-based-research-for-health-2014-annual", year = 2015, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "Institute of Medicine and National Academies of Sciences, Engineering, and Medicine", title = "Roundtable on Translating Genomic-Based Research for Health: 2013 Annual Report", url = "https://nap.nationalacademies.org/catalog/26252/roundtable-on-translating-genomic-based-research-for-health-2013-annual", year = 2014, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "National Academies of Sciences, Engineering, and Medicine", editor = "Theresa M. Wizemann and Kathryn Asalone and Meredith Hackmann and Sarah Beachy", title = "Realizing the Potential of Genomics across the Continuum of Precision Health Care: Proceedings of a Workshop", isbn = "978-0-309-70115-0", abstract = "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.", url = "https://nap.nationalacademies.org/catalog/26917/realizing-the-potential-of-genomics-across-the-continuum-of-precision-health-care", year = 2023, publisher = "The National Academies Press", address = "Washington, DC" } @BOOK{NAP author = "National Research Council", editor = "Robert Pool and Kim Waddell", title = "Exploring Horizons for Domestic Animal Genomics: Workshop Summary", isbn = "978-0-309-08505-2", abstract = "Recognizing the important contributions that genomic analysis can make to agriculture, production and companion animal science, evolutionary biology, and human health with respect to the creation of models for genetic disorders, the National Academies convened a group of individuals to plan a public workshop that would: (1) assess these contributions; (2) identify potential research directions for existing genomics programs; and (3) highlight the opportunities of a coordinated, multi-species genomics effort for the science and policymaking communities. Their efforts culminated in a workshop sponsored by the U.S. Department of Agriculture, Department of Energy, National Science Foundation, and the National Institutes of Health. The workshop was convened on February 19, 2002. The goal of the workshop was to focus on domestic animal genomics and its integration with other genomics and functional genomics projects.", url = "https://nap.nationalacademies.org/catalog/10487/exploring-horizons-for-domestic-animal-genomics-workshop-summary", year = 2002, publisher = "The National Academies Press", address = "Washington, DC" }