TY - BOOK AU - National Academies of Sciences, Engineering, and Medicine TI - Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field SN - DO - 10.17226/26902 PY - 2023 UR - https://nap.nationalacademies.org/catalog/26902/using-population-descriptors-in-genetics-and-genomics-research-a-new PB - The National Academies Press CY - Washington, DC LA - English KW - Health and Medicine KW - Behavioral and Social Sciences AB - Genetic and genomic information has become far more accessible, and research using human genetic data has grown exponentially over the past decade. Genetics and genomics research is now being conducted by a wide range of investigators across disciplines, who often use population descriptors inconsistently and/or inappropriately to capture the complex patterns of continuous human genetic variation. In response to a request from the National Institutes of Health, the National Academies assembled an interdisciplinary committee of expert volunteers to conduct a study to review and assess existing methodologies, benefits, and challenges in using race, ethnicity, ancestry, and other population descriptors in genomics research. The resulting report focuses on understanding the current use of population descriptors in genomics research, examining best practices for researchers, and identifying processes for adopting best practices within the biomedical and scientific communities. ER - TY - BOOK AU - Institute of Medicine A2 - Eileen R. Choffnes A2 - LeighAnne Olsen A2 - Theresa Wizemann TI - The Science and Applications of Microbial Genomics: Workshop Summary SN - DO - 10.17226/18261 PY - 2013 UR - https://nap.nationalacademies.org/catalog/18261/the-science-and-applications-of-microbial-genomics-workshop-summary PB - The National Academies Press CY - Washington, DC LA - English KW - Biology and Life Sciences KW - Health and Medicine KW - Conflict and Security Issues AB - Over the past several decades, new scientific tools and approaches for detecting microbial species have dramatically enhanced our appreciation of the diversity and abundance of the microbiota and its dynamic interactions with the environments within which these microorganisms reside. The first bacterial genome was sequenced in 1995 and took more than 13 months of work to complete. Today, a microorganism's entire genome can be sequenced in a few days. Much as our view of the cosmos was forever altered in the 17th century with the invention of the telescope, these genomic technologies, and the observations derived from them, have fundamentally transformed our appreciation of the microbial world around us. On June 12 and 13, 2012, the Institute of Medicine's (IOM's) Forum on Microbial Threats convened a public workshop in Washington, DC, to discuss the scientific tools and approaches being used for detecting and characterizing microbial species, and the roles of microbial genomics and metagenomics to better understand the culturable and unculturable microbial world around us. Through invited presentations and discussions, participants examined the use of microbial genomics to explore the diversity, evolution, and adaptation of microorganisms in a wide variety of environments; the molecular mechanisms of disease emergence and epidemiology; and the ways that genomic technologies are being applied to disease outbreak trace back and microbial surveillance. Points that were emphasized by many participants included the need to develop robust standardized sampling protocols, the importance of having the appropriate metadata, data analysis and data management challenges, and information sharing in real time. The Science and Applications of Microbial Genomics summarizes this workshop. ER - TY - BOOK AU - National Academies of Sciences, Engineering, and Medicine A2 - Theresa M. Wizemann A2 - Kathryn Asalone A2 - Meredith Hackmann A2 - Sarah Beachy TI - Realizing the Potential of Genomics across the Continuum of Precision Health Care: Proceedings of a Workshop SN - DO - 10.17226/26917 PY - 2023 UR - https://nap.nationalacademies.org/catalog/26917/realizing-the-potential-of-genomics-across-the-continuum-of-precision-health-care PB - The National Academies Press CY - Washington, DC LA - English KW - Health and Medicine AB - 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. ER -