TY - BOOK AU - National Research Council A2 - Kevin Kinsella TI - Issues in Returning Individual Results from Genome Research Using Population-Based Banked Specimens, with a Focus on the National Health and Nutrition Examination Survey: Workshop Summary SN - DO - 10.17226/18829 PY - 2014 UR - https://nap.nationalacademies.org/catalog/18829/issues-in-returning-individual-results-from-genome-research-using-population-based-banked-specimens-with-a-focus-on-the-national-health-and-nutrition-examination-survey PB - The National Academies Press CY - Washington, DC LA - English KW - Behavioral and Social Sciences KW - Surveys and Statistics AB - Population surveys traditionally collect information from respondents about their circumstances, behaviors, attitudes, and other characteristics. In recent years, many surveys have been collecting not only questionnaire answers, but also biologic specimens such as blood samples, saliva, and buccal swabs, from which a respondent's DNA can be ascertained along with other biomarkers (e.g., the level of a certain protein in the blood). The National Health and Nutrition Examination Survey (NHANES), sponsored by the National Center for Health Statistics (NCHS), has been collecting and storing genetic specimens since 1991, and other surveys, such as the Health and Retirement Study (HRS) funded by the National Institute on Aging, have followed suit. In order to give their informed consent to participate in a survey, respondents need to know the disposition and use of their data. Will their data be used for one research project and then destroyed, or will they be archived for secondary use? Sponsors of repeated cross-sectional surveys, such as NHANES, and of longitudinal surveys that follow panels of individuals over time, such as HRS, generally want to retain data for a wide range of secondary uses, many of which are not explicitly foreseen at the time of data collection. They typically inform respondents that their data will be stored in a secure manner and may be provided to researchers with suitable protections against individual identification. The addition of biologic specimens to a survey adds complications for storing, protecting, and providing access to such data and measurements made from them. There are also questions of whether, when, and for which biologic measurements the results should be reported back to individual respondents. Recently, the cost of full genomic sequencing has plummeted, and research findings are beginning to accumulate that bear up under replication and that potentially have clinical implications for a respondent. For example, knowing that one possesses a certain gene or gene sequence might suggest that one should seek a certain kind of treatment or genetic counseling or inform one's blood relatives. Biomedical research studies, in which participants are asked to donate tissues for genetic studies and are usually told that they will not be contacted with any results, are increasingly confronting the issue of when and which DNA results to return to participants. Issues in Returning Individual Results from Genome Research Using Population-Based Banked Specimens, with a Focus on the National Health and Nutrition Examination Survey is the summary of a workshop convened in February 2013 by the Committee on National Statistics in the Division of Behavioral and Social Sciences and Education of the National Research Council. This report considers how population surveys, in particular NHANES, should implement the reporting of results from genomic research using stored specimens and address informed consent for future data collection as well as for the use of banked specimens covered by prior informed consent agreements. The report will be of interest to survey organizations that include or contemplate including the collection of biologic specimens in population surveys for storing for genetic research. The issues involved are important for advancing social, behavioral, and biomedical knowledge while appropriately respecting and protecting individual survey respondents. ER - TY - BOOK A2 - Adele Glimm TI - Gene Hunter: The Story of Neuropsychologist Nancy Wexler SN - DO - 10.17226/11548 PY - 2006 UR - https://nap.nationalacademies.org/catalog/11548/gene-hunter-the-story-of-neuropsychologist-nancy-wexler PB - The National Academies Press CY - Washington, DC LA - English KW - Explore Science KW - AB - Nancy Wexler is a hunter. Her quarry is the gene responsible for a fatal, inherited sickness called Huntington's disease. Nancy's work is a breathtaking race against time not only for others but maybe for herself, as well. Nancy Wexler is the daughter of a Huntington's patient and is at risk for this disease. Finding this gene is a vital step toward preventing or curing Huntington's and thus saving lives. Nancy's work takes her all over the world, specifically to small villages in Venezuela where the mysterious gene affects more people than anywhere else on the globe. Blood samples generously donated by the villagers hold the clues to discovering the gene. Hunter, detective, scientist: Nancy is all these, plus a friend to people everywhere who are affected by Huntington's and other diseases of the brain. Gene Hunter is the powerful story of a courageous and dedicated woman whose passion for science is both personally and intellectually satisfying. Author Adele Glimm draws on firsthand accounts from Nancy and her friends, family, and colleagues to tell us how a curious, strongminded woman became an accomplished neuropsychologist. This title aligns to Common Core standards: Interest Level Grades 6 - 8; Reading Level Grade level Equivalent: 7.1: Lexile Measure: 1080L; DRA: Not Available; Guided Reading: Z ER - TY - BOOK AU - Institute of Medicine A2 - Steve Olson A2 - Adam C. Berger TI - Challenges and Opportunities in Using Residual Newborn Screening Samples for Translational Research: Workshop Summary SN - DO - 10.17226/12981 PY - 2010 UR - https://nap.nationalacademies.org/catalog/12981/challenges-and-opportunities-in-using-residual-newborn-screening-samples-for-translational-research PB - The National Academies Press CY - Washington, DC LA - English KW - Health and Medicine AB - 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. ER - TY - BOOK AU - Institute of Medicine AU - National Academies of Sciences, Engineering, and Medicine TI - Roundtable on Translating Genomic-Based Research for Health: 2010 Annual Report DO - 10.17226/26249 PY - 2011 UR - https://nap.nationalacademies.org/catalog/26249/roundtable-on-translating-genomic-based-research-for-health-2010-annual PB - The National Academies Press CY - Washington, DC LA - English KW - Health and Medicine ER - TY - BOOK AU - National Research Council TI - Wild Horse Populations: Field Studies in Genetics and Fertility: Report to the Bureau of Land Management, U.S. Department of the Interior DO - 10.17226/18466 PY - 1991 UR - https://nap.nationalacademies.org/catalog/18466/wild-horse-populations-field-studies-in-genetics-and-fertility-report PB - The National Academies Press CY - Washington, DC LA - English KW - Biology and Life Sciences ER - TY - BOOK AU - National Academies of Sciences, Engineering, and Medicine A2 - Joe Alper A2 - Keegan Sawyer TI - Leveraging Artificial Intelligence and Machine Learning to Advance Environmental Health Research and Decisions: Proceedings of a Workshop—in Brief DO - 10.17226/25520 PY - 2019 UR - https://nap.nationalacademies.org/catalog/25520/leveraging-artificial-intelligence-and-machine-learning-to-advance-environmental-health-research-and-decisions PB - The National Academies Press CY - Washington, DC LA - English KW - Environment and Environmental Studies AB - Artificial intelligence (AI) is a technological invention that promises to transform everyday life and the world. Investment and enthusiasm for AI—or the ability of machines to carry out “smart” tasks—are driven largely by advancements in the subfield of machine learning. Machine learning algorithms can analyze large volumes of complex data to find patterns and make predictions, often exceeding the accuracy and efficiency of people who are attempting the same task. Powered by a tremendous growth in data collection and availability as well as computing power and accessibility, AI and machine learning applications are becoming commonplace in many aspects of modern society, as well as in a growing number of scientific disciplines. On June 6–7, 2019, the National Academies of Sciences, Engineering, and Medicine held a 2-day workshop to explore emerging applications and implications of AI and machine learning in environmental health research and decisions. Speakers highlighted the use of AI and machine learning to characterize sources of pollution, predict chemical toxicity, and estimate human exposures to contaminants, among other applications. Though promising, questions remain about the use of AI and machine learning in environmental health research and public policy decisions. This publication summarizes the presentations and discussions from the workshop. ER - TY - BOOK AU - National Research Council TI - DNA Technology in Forensic Science SN - DO - 10.17226/1866 PY - 1992 UR - https://nap.nationalacademies.org/catalog/1866/dna-technology-in-forensic-science PB - The National Academies Press CY - Washington, DC LA - English KW - Biology and Life Sciences AB - Matching DNA samples from crime scenes and suspects is rapidly becoming a key source of evidence for use in our justice system. DNA Technology in Forensic Science offers recommendations for resolving crucial questions that are emerging as DNA typing becomes more widespread. The volume addresses key issues: Quality and reliability in DNA typing, including the introduction of new technologies, problems of standardization, and approaches to certification. DNA typing in the courtroom, including issues of population genetics, levels of understanding among judges and juries, and admissibility. Societal issues, such as privacy of DNA data, storage of samples and data, and the rights of defendants to quality testing technology. Combining this original volume with the new update—The Evaluation of Forensic DNA Evidence—provides the complete, up-to-date picture of this highly important and visible topic. This volume offers important guidance to anyone working with this emerging law enforcement tool: policymakers, specialists in criminal law, forensic scientists, geneticists, researchers, faculty, and students. ER - TY - BOOK AU - National Academies of Sciences, Engineering, and Medicine TI - Evaluating COVID-19-Related Surveillance Measures for Decision-Making DO - 10.17226/26578 PY - 2022 UR - https://nap.nationalacademies.org/catalog/26578/evaluating-covid-19-related-surveillance-measures-for-decision-making PB - The National Academies Press CY - Washington, DC LA - English KW - Health and Medicine AB - As the COVID-19 pandemic has continued to evolve, the types of data available have changed with the identification of new variants, the availability of COVID-19 vaccines, the introduction of new COVID-19 therapeutics, the reopening of the economy, and the relaxing of mitigation measures. Enhanced understanding of these data types can lead to more informed decisions. The latest guidance from the Societal Experts Action Network (SEAN) highlights new and updated COVID-19 data measures and surveillance strategies that decision makers can use to inform policy decisions. This rapid expert consultation was produced by SEAN, an activity of the National Academies of Sciences, Engineering, and Medicine that is sponsored by the National Science Foundation. SEAN links researchers in the social, behavioral, and economic sciences with decision makers to respond to policy questions arising from the COVID-19 pandemic. This project is a collaboration with the National Academies' Standing Committee on Emerging Infectious Diseases and 21st Century Health Threats, which is sponsored by the U.S. Department of Health and Human Services, Office of the Assistant Secretary for Preparedness and Response. ER - TY - BOOK AU - National Academies of Sciences, Engineering, and Medicine A2 - Elizabeth Boyle TI - Feasibility of Addressing Environmental Exposure Questions Using Department of Defense Biorepositories: Proceedings of a Workshop–in Brief DO - 10.17226/25287 PY - 2018 UR - https://nap.nationalacademies.org/catalog/25287/feasibility-of-addressing-environmental-exposure-questions-using-department-of-defense-biorepositories PB - The National Academies Press CY - Washington, DC LA - English KW - Health and Medicine AB - The past decade has seen advancements in methods for measuring environmental exposures in biological specimens, such as blood or tissue. Chemicals can now be measured more accurately and with smaller volumes of specimens. Biorepositories that store many biospecimens are maintained by the Department of Defense (DoD) for medical purposes. To help determine the feasibility of using these biorepositories to conduct research on environmental and occupational exposures experienced by servicemembers, the National Academies of Sciences, Engineering, and Medicine convened a two-day workshop in June 2018. This publication briefly summarizes the presentations and discussions from the workshop. ER - TY - BOOK AU - National Research Council A2 - Caleb E. Finch A2 - James W. Vaupel A2 - Kevin Kinsella TI - Cells and Surveys: Should Biological Measures Be Included in Social Science Research? SN - DO - 10.17226/9995 PY - 2001 UR - https://nap.nationalacademies.org/catalog/9995/cells-and-surveys-should-biological-measures-be-included-in-social PB - The National Academies Press CY - Washington, DC LA - English KW - Behavioral and Social Sciences AB - What can social science, and demography in particular, reasonably expect to learn from biological information? There is increasing pressure for multipurpose household surveys to collect biological data along with the more familiar interviewer-respondent information. Given that recent technical developments have made it more feasible to collect biological information in non-clinical settings, those who fund, design, and analyze survey data need to think through the rationale and potential consequences. This is a concern that transcends national boundaries. Cells and Surveys addresses issues such as which biologic/genetic data should be collected in order to be most useful to a range of social scientists and whether amassing biological data has unintended side effects. The book also takes a look at the various ethical and legal concerns that such data collection entails. ER - TY - BOOK AU - National Research Council TI - Combined Exposures to Hydrogen Cyanide and Carbon Monoxide in Army Operations: Initial Report SN - DO - 10.17226/12040 PY - 2008 UR - https://nap.nationalacademies.org/catalog/12040/combined-exposures-to-hydrogen-cyanide-and-carbon-monoxide-in-army-operations PB - The National Academies Press CY - Washington, DC LA - English KW - Conflict and Security Issues KW - Health and Medicine ER - TY - BOOK AU - Institute of Medicine TI - Assessment of the Role of Intermittent Preventive Treatment for Malaria in Infants: Letter Report DO - 10.17226/12180 PY - 2008 UR - https://nap.nationalacademies.org/catalog/12180/assessment-of-the-role-of-intermittent-preventive-treatment-for-malaria-in-infants PB - The National Academies Press CY - Washington, DC LA - English KW - Health and Medicine AB - Intermittent Preventive Treatment for Malaria in Infants (IPTi) is a new strategy which aims to combine the short-term protection of chemoprophylaxis with the long-term protection of naturally-acquired immunity to reduce morbidity from malaria infections during infancy. The Bill and Melinda Gates Foundation requested that the Institute of Medicine (IOM) conduct an independent assessment of the IPTi efficacy studies using sulfadoxine-pyrimethamine (IPTi-SP) that have been previously conducted by the IPTi Consortium. The IOM convened a committee to evaluate the evidence concerning IPTi-SP, which included addressing issues related to its utility and safety, as well as program management aspects of IPTi. The resulting letter report contains the findings, conclusions, and recommendations of the IOM committee. Overall, the committee found that the evidence presented makes IPTi-SP a promising public health strategy to diminish the morbidity from malaria infections, especially for the incidence of clinical malaria, among infants at high risk who reside in areas of high- or moderate-intensity transmission and is worthy of continued investment. The committee also cautioned that during large-scale implementation problems such as drug supply and logistics; monitoring and resistance; and community acceptance and reaction to IPTi-SP could arise. To maximize the greatest public health impact, the committee advised that these issues would best be addressed in an appropriate local context. ER - TY - BOOK TI - Toxicity of Alternatives to Chlorofluorocarbons: HFC-134a and HCFC-123 DO - 10.17226/9268 PY - 1996 UR - https://nap.nationalacademies.org/catalog/9268/toxicity-of-alternatives-to-chlorofluorocarbons-hfc-134a-and-hcfc-123 PB - The National Academies Press CY - Washington, DC LA - English KW - Environment and Environmental Studies ER - TY - BOOK AU - Institute of Medicine TI - The Air Force Health Study Assets Research Program SN - DO - 10.17226/20219 PY - 2015 UR - https://nap.nationalacademies.org/catalog/20219/the-air-force-health-study-assets-research-program PB - The National Academies Press CY - Washington, DC LA - English KW - Health and Medicine KW - Conflict and Security Issues AB - The Air Force Health Study (AFHS) is a longitudinal, prospective epidemiologic study of more than 2,700 men followed for approximately 20 years. This cohort participated in up to six intensive physical examinations with high rates of compliance. In addition to a complete record of clinical measurements and observations collected at these exams, serum and other biological samples were obtained and preserved. Extensive questionnaires addressing health, lifestyle, and socioeconomic status were administered during each exam, and other information was obtained about the participants' employment, families and offspring, and potential sources of environmental exposures. While the study was completed in 2006, the extensive health data linked to several types of longitudinally collected biologic specimens - some 91,000 serum, whole blood, urine, semen, and adipose tissue specimens - remain a resource for additional research. The AFHS assets are exceptional in the sheer multitude and range of types of information available for each participant. The longitudinal nature of the AFHS - with its extended follow-up, high rates of retention, and repeat biological samples - provides a valuable opportunity for research beyond the original aims of the study. Currently, the Institute of Medicine is the custodian of these assets. The Air Force Health Study Assets Research Program outlines the feasibility and advisability of maintaining the biospecimens based on interest generated from the general scientific community and results of pilot projects and other research projects using the AFHS assets. According to this report, sustaining access to the AFHS biospecimens and data benefits the veterans community and the public at large, who will gain from the information derived from studies of the assets. . This report discusses the scientific value of the AFHS data and biospecimens and the lessons learned in managing access to the assets. ER - TY - BOOK AU - National Academies of Sciences, Engineering, and Medicine TI - A Review of Methods for Detecting Soreness in Horses SN - DO - 10.17226/25949 PY - 2021 UR - https://nap.nationalacademies.org/catalog/25949/a-review-of-methods-for-detecting-soreness-in-horses PB - The National Academies Press CY - Washington, DC LA - English KW - Agriculture AB - During the last century and today, the Tennessee walking horse has been used primarily for pleasure and show competition. Unique and natural to the breed is a smooth four-beat "running walk" gait. In the 1950s the accentuated or exaggerated running walk, known as the "big lick" became popular at high-level competitions. The combination of exaggerated high-action step in front and long stride behind is still considered desirable in today's horse show competitions, and it is often achieved through soring. Soring is the practice of applying a substance or mechanical device to the lower limb of a horse that will create enough pain that the horse will exaggerate its gait to relieve the discomfort. In 1970 Congress put into law the Horse Protection Act (HPA) to specifically address the practice of soring by prohibiting the showing, exhibition, or sale of Tennessee walking horses that are found to be sore. Sadly, soring is still being done even after 50 years of HPA enforcement. This report reviews the methods for detecting soreness in horses, in hopes of advancing the goal of ultimately eliminating the act of soring in horses and improving the welfare of Tennessee walking horses. A Review of Methods for Detecting Soreness in Horses examines what is known about the quality and consistency of available methods to identify soreness in horses; identifies potential new and emerging methods, approaches, and technologies for detecting hoof and pastern pain and its causes; and identifies research and technology needs to improve the reliability of methods to detect soreness. This independent study will help ensure that HPA inspection protocols are based on sound scientific principles that can be applied with consistency and objectivity. ER - TY - BOOK AU - National Research Council TI - Re-evaluation of Drinking-Water Guidelines for Diisopropyl Methylphosphonate SN - DO - 10.17226/9901 PY - 2000 UR - https://nap.nationalacademies.org/catalog/9901/re-evaluation-of-drinking-water-guidelines-for-diisopropyl-methylphosphonate PB - The National Academies Press CY - Washington, DC LA - English KW - Environment and Environmental Studies KW - Space and Aeronautics AB - Diisopropyl Methylphosphonate (DIMP) is a groundwater contaminant at the U.S. Army's Rocky Mountain Arsenal in Colorado. DIMP is a by-product created from the manufacture and detoxification of the nerve agent GB which the arsenal produced from 1953 to 1957. For awhile the Army and the State of Colorado disagreed upon the appropriate drinking-water contaminant guideline for DIMP. A drinking-water guideline of 600 micrograms per liter was established by the U.S. Environmental Protection Agency (EPA) in 1989 but the State of Colorado promulgated a lower guideline of 8 micrograms per liter. The significant difference between the two suggested values arose from the fact that both sides used different studies to determine their values. Colorado used one-generation reproductive toxicity study in mink, whereas EPA used a subchronic toxicity study in dogs. To resolve the disagreement, a two-generation reproductive study in mink was conducted. The Army asked the National Research Council (NRC) to independently evaluate the 1997 study and re-evaluate the drinking-water guideline for DIMP. This task was assigned to the Committee on Toxicology, which established the Subcommittee on the Toxicity of Diisopropyl Methylphosphonate, a multidisciplinary group of experts. The subcommittee evaluated the two-generation reproductive study as well as other studies relevant to the task. Data on the use of mink as a predictive model in toxicology were also reviewed. Re-Evaluation of Drinking-Water Guidelines for Diisopropyl Methylphosphonate is the subcommittee's report which shows that neither party was corrected in their DIMP guidelines. The report includes the subcommittee's evaluation and recommendations concerning the topic. ER - TY - BOOK AU - National Research Council TI - Privacy Issues in Biomedical and Clinical Research SN - DO - 10.17226/6326 PY - 1998 UR - https://nap.nationalacademies.org/catalog/6326/privacy-issues-in-biomedical-and-clinical-research PB - The National Academies Press CY - Washington, DC LA - English KW - Health and Medicine KW - Biology and Life Sciences AB - After discussions with the National Cancer Institute and the Department of Energy the Board on Biology of the National Research Council agreed to run a workshop under the auspices of its Forum on Biotechnology entitled "Privacy Issues in Biomedical and Clinical Research" on November 1, 1997. The organizers want to stress the forum was not intended to cover the full gauntlet of issues concerning Genomics and the Privacy of Medical Records. The emphasis of this forum was to look at pending legislation in Congress (Fall, 1997) and consider, if enacted as written, how this would affect genetic research. The broad language of this legislation written to protect the individual could inadvertently restrict research intended to help these same individuals. Scientific progress requires the sharing of information for the validation of results and the dissemination of gained knowledge to be effective. Other issues which were touched upon in this forum but not fully explored include; the trust of individuals involved in genetic studies in the manner their genetic information could be used, the practice of the generalized "linking" of particular ethnic groups with specific genetic traits, and the potential for positive and negative impact on the quality of life by having knowledge of one's genetic potential. These and other issues which have come upon us in the age of genomics require separate, focused efforts to explore their potential effect on society. ER - TY - BOOK AU - National Research Council TI - Monitoring Human Tissues for Toxic Substances SN - DO - 10.17226/1787 PY - 1991 UR - https://nap.nationalacademies.org/catalog/1787/monitoring-human-tissues-for-toxic-substances PB - The National Academies Press CY - Washington, DC LA - English KW - Environment and Environmental Studies AB - The National Human Monitoring Program (NHMP) identifies concentrations of specific chemicals in human tissues, including toxicologic testing and risk assessment determinations. This volume evaluates the current activities of the NHMP; identifies important scientific, technical, and programmatic issues; and makes recommendations regarding the design of the program and use of its products. ER - TY - BOOK AU - National Academies of Sciences, Engineering, and Medicine A2 - Ben Kahn A2 - Amanda Wagner Gee A2 - Carolyn Shore TI - Examining the Impact of Real-World Evidence on Medical Product Development: II. Practical Approaches: Proceedings of a Workshop—in Brief DO - 10.17226/25176 PY - 2018 UR - https://nap.nationalacademies.org/catalog/25176/examining-the-impact-of-real-world-evidence-on-medical-product-development PB - The National Academies Press CY - Washington, DC LA - English KW - Health and Medicine AB - On March 6–7, 2018, the National Academies of Sciences, Engineering, and Medicine held the second workshop of a three-part series titled Examining the Impact of Real-World Evidence on Medical Product Development. The workshops are intended to advance discussions and common knowledge among key stakeholders about complex issues relating to the generation and use of real-world evidence (RWE). The second workshop focused on practical approaches for the collection of real-world data (RWD)—data generated outside of the traditional clinical trial setting—and the use of RWE. This publication summarizes the presentations and discussions from this second workshop. ER - TY - BOOK AU - Institute of Medicine AU - National Academies of Sciences, Engineering, and Medicine TI - Veterans and Agent Orange: Update 2014 SN - DO - 10.17226/21845 PY - 2016 UR - https://nap.nationalacademies.org/catalog/21845/veterans-and-agent-orange-update-2014 PB - The National Academies Press CY - Washington, DC LA - English KW - Health and Medicine AB - From 1962 to 1971, the US military sprayed herbicides over Vietnam to strip the thick jungle canopy that could conceal opposition forces, to destroy crops that those forces might depend on, and to clear tall grasses and bushes from the perimeters of US base camps and outlying fire-support bases. Mixtures of 2,4-dichlorophenoxyacetic acid (2,4-D), 2,4,5-trichlorophenoxyacetic acid (2,4,5-T), picloram, and cacodylic acid made up the bulk of the herbicides sprayed. The main chemical mixture sprayed was Agent Orange, a 50:50 mixture of 2,4-D and 2,4,5-T. At the time of the spraying, 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), the most toxic form of dioxin, was an unintended contaminant generated during the production of 2,4,5-T and so was present in Agent Orange and some other formulations sprayed in Vietnam. Because of complaints from returning Vietnam veterans about their own health and that of their children combined with emerging toxicologic evidence of adverse effects of phenoxy herbicides and TCDD, the National Academy of Sciences was asked to perform a comprehensive evaluation of scientific and medical information regarding the health effects of exposure to Agent Orange, other herbicides used in Vietnam, and the various components of those herbicides, including TCDD. Updated evaluations were conducted every two years to review newly available literature and draw conclusions from the overall evidence. Veterans and Agent Orange: Update 2014 is a cumulative report of the series thus far. ER -