RESUMEN
Starting with the launch of the Human Genome Project three decades ago, and continuing after its completion in 2003, genomics has progressively come to have a central and catalytic role in basic and translational research. In addition, studies increasingly demonstrate how genomic information can be effectively used in clinical care. In the future, the anticipated advances in technology development, biological insights, and clinical applications (among others) will lead to more widespread integration of genomics into almost all areas of biomedical research, the adoption of genomics into mainstream medical and public-health practices, and an increasing relevance of genomics for everyday life. On behalf of the research community, the National Human Genome Research Institute recently completed a multi-year process of strategic engagement to identify future research priorities and opportunities in human genomics, with an emphasis on health applications. Here we describe the highest-priority elements envisioned for the cutting-edge of human genomics going forward-that is, at 'The Forefront of Genomics'.
Asunto(s)
Investigación Biomédica/tendencias , Genoma Humano/genética , Genómica/tendencias , Salud Pública/normas , Investigación Biomédica Traslacional/tendencias , Investigación Biomédica/economía , COVID-19/genética , Genómica/economía , Humanos , National Human Genome Research Institute (U.S.)/economía , Cambio Social , Investigación Biomédica Traslacional/economía , Estados UnidosRESUMEN
Health disparities are driven by unequal conditions in the environments in which people are born, live, learn, work, play, worship, and age, commonly termed the Social Determinants of Health (SDoH). The availability of recommended measurement protocols for SDoH will enable investigators to consistently collect data for SDoH constructs. The PhenX (consensus measures for Phenotypes and eXposures) Toolkit is a web-based catalog of recommended measurement protocols for use in research studies with human participants. Using standard protocols from the PhenX Toolkit makes it easier to compare and combine studies, potentially increasing the impact of individual studies, and aids in comparability across literature. In 2018, the National Institute on Minority Health and Health Disparities provided support for an initial expert Working Group to identify and recommend established SDoH protocols for inclusion in the PhenX Toolkit. In 2022, a second expert Working Group was convened to build on the work of the first SDoH Working Group and address gaps in the SDoH Toolkit Collections. The SDoH Collections consist of a Core Collection and Individual and Structural Specialty Collections. This article describes a Basic Protocol for using the PhenX Toolkit to select and implement SDoH measurement protocols for use in research studies. © 2024 The Authors. Current Protocols published by Wiley Periodicals LLC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA. Basic Protocol: Using the PhenX Toolkit to select and implement SDoH protocols.
Asunto(s)
Academias e Institutos , Determinantes Sociales de la Salud , Humanos , Consenso , Estudios Epidemiológicos , Empleados de GobiernoRESUMEN
Public health officials have raised concerns that plasmid transfer between Enterobacteriaceae species may spread resistance to carbapenems, an antibiotic class of last resort, thereby rendering common health care-associated infections nearly impossible to treat. To determine the diversity of carbapenemase-encoding plasmids and assess their mobility among bacterial species, we performed comprehensive surveillance and genomic sequencing of carbapenem-resistant Enterobacteriaceae in the National Institutes of Health (NIH) Clinical Center patient population and hospital environment. We isolated a repertoire of carbapenemase-encoding Enterobacteriaceae, including multiple strains of Klebsiella pneumoniae, Klebsiella oxytoca, Escherichia coli, Enterobacter cloacae, Citrobacter freundii, and Pantoea species. Long-read genome sequencing with full end-to-end assembly revealed that these organisms carry the carbapenem resistance genes on a wide array of plasmids. K. pneumoniae and E. cloacae isolated simultaneously from a single patient harbored two different carbapenemase-encoding plasmids, indicating that plasmid transfer between organisms was unlikely within this patient. We did, however, find evidence of horizontal transfer of carbapenemase-encoding plasmids between K. pneumoniae, E. cloacae, and C. freundii in the hospital environment. Our data, including full plasmid identification, challenge assumptions about horizontal gene transfer events within patients and identify possible connections between patients and the hospital environment. In addition, we identified a new carbapenemase-encoding plasmid of potentially high clinical impact carried by K. pneumoniae, E. coli, E. cloacae, and Pantoea species, in unrelated patients and in the hospital environment.