@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 = "National Academies of Sciences, Engineering, and Medicine", editor = "Steven Moss and Michael Zierler", title = "Toward Sequencing and Mapping of RNA Modifications: Proceedings of a Workshop–in Brief", abstract = "One strategy cells use for regulation is modifying proteins, DNA, and RNA to control their structure, function, and stability. For years, research has focused on the reversible modifications to proteins and DNA. However, RNA can also be highly modified, and more than 170 types of modification to RNA have been identified so far. Current methods for mapping and sequencing RNA and its modifications - also known as the epitranscriptome - are limited, partly because available sequencing technologies can detect only a small number of them. This limits the understanding of different molecular processes and leaves a gap in knowledge related to human diseases and disorders.\nTo address these limitations and develop a roadmap for the sequencing of RNA with the epitranscriptome, the National Academies of Sciences, Engineering, and Medicine convened an ad hoc committee to provide a consensus report. A workshop held on March 14-15, 2023 was one part of an information-gathering effort by the committee and is summarized in this proceedings. ", url = "https://nap.nationalacademies.org/catalog/27149/toward-sequencing-and-mapping-of-rna-modifications-proceedings-of-a", 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 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 = "Christine M. Micheel and Sharly J. Nass and Gilbert S. Omenn", title = "Evolution of Translational Omics: Lessons Learned and the Path Forward", isbn = "978-0-309-22418-5", abstract = "Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.", url = "https://nap.nationalacademies.org/catalog/13297/evolution-of-translational-omics-lessons-learned-and-the-path-forward", year = 2012, publisher = "The National Academies Press", address = "Washington, DC" }