Whole-genome sequencing (WGS) provides a vast amount of information and the highest possible resolution for pathogen subtyping. The application of WGS for global surveillance can provide information on the early emergence and spread of AMR and further inform timely policy development on AMR control.... Sequencing data emanating from AMR surveillance may provide key information to guide the development of rapid diagnostic tools for better and more rapid characterization of AMR, and thus complement phenotypic methods. This document addresses the applications of WGS for AMR surveillance, including the benefits and limitations of current WGS technologies
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8 January 2021
Sequencing enabled the world to rapidly identify SARS-CoV-2 and develop diagnostic tests and other tools for outbreak management. Continued genome sequencing supports the monitoring of the disease’s spread and evolution of the virus. Accelerated integration of genome sequencing int...o the practices of the global health community is required if we want to be better prepared for the future threats. This document provides guidance for laboratories on maximizing the impact of SARS-CoV-2 sequencing now and other emerging pathogens in the future.
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The growing understanding of how sequence information can contribute to improved public health is driving global investments in sequencing facilities and programmes. The falling cost and complexity of generating GSD provides opportunities for expanding sequencing capacity; however, challenges to wid...espread implementation remain. This document provides policy-makers and stakeholders with guidance on how to maximize the public health benefit of SARS-CoV-2 genomic sequencing activities in the short and long term as the pandemic continues to unfold. Practical considerations for the implementation of a virus genomic sequencing programme and an overview of the public health objectives of genomic sequencing are covered. This guidance focuses on SARS-CoV-2 but is applicable to other pathogens of public health concern.
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The growing understanding of how sequence information can contribute to improved public health is driving global investments in sequencing facilities and programmes. The falling cost and complexity of generating GSD provides opportunities for expanding sequencing capacity; however, challenges to wid...espread implementation remain. This document provides policy-makers and stakeholders with guidance on how to maximize the public health benefit of SARS-CoV-2 genomic sequencing activities in the short and long term as the pandemic continues to unfold. Practical considerations for the implementation of a virus genomic sequencing programme and an overview of the public health objectives of genomic sequencing are covered. This guidance focuses on SARS-CoV-2 but is applicable to other pathogens of public health concern.
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A COVID-19 virus mutation tracker system (CovMT; appendix) based on SARS-CoV-2 isolate genomes deposited to GISAID to track the worldwide sequencing efforts and the evolution of the mutational landscape of this virus. CovMT, which is updated daily, summarises mutations from more than 450 000 isola...tes into groups of generic virus clades, lineages, and more specific mutation sets we call mutation fingerprints.
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Genomic sequencing has been an essential tool in generating virological data, driving the laboratory response, and better understanding the dispersal and evolutionary patterns of SARS-CoV-2. In addition to the characterization of the global circulation patterns, early detection of SARS-CoV-2 variant...s inside each country is critical to complement the epidemiological and virological surveillance
9 February 2021
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This technical guidance aims to provide guidelines to laboratories and relevant stakeholders in the European Union (EU), European Economic Area (EEA) and other countries in the WHO European region in making decisions on establishing sequencing capacities and capabilities, in making decisions on whic...h technologies to use and/or in deciding on the role of sequencing for SARS-CoV-2 diagnostics, research, outbreak investigations and surveillance. It addresses the most used sequencing technologies and their applications and proposes a central standardisation process to analyse and report the findings of SARS-CoV-2 genetic characterisations.
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Au cours de la dernière décennie, les données de séquençage génétique des agents pathogènes ont gagné en importance et contribuent désormais de façon déterminante à la détection et à la maîtrise des flambées de maladies infectieuses, en facilitant la mise au point de ...produits de diagnostic, de médicaments et de vaccins et en guidant lesactivités de riposte aux flambées(1-11). L’émergence du nouveau coronavirus, par la suite désigné « coronavirus 2 du syndrome respiratoire aigu sévère » (SARS-CoV-2), a encore accentué l’importance des données de séquençage génétique.
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WHO-2019-nCoV-genomic_sequencing
Representative, quality, timely and continuous genetic surveillance of SARS-CoV-2 is critical to the COVID-19 outbreak response. This document provides practical guidance to Global Influenza Surveillance and Response System (GISRS) laboratories and other relevant national laboratories to move beyond... virus detection to genomic sequencing of SARS-CoV-2 PCR positive materials obtained from sentinel surveillance of influenza-like illness (ILI), acute respiratory infection (ARI) and severe acute respiratory infection (SARI). It contains considerations on sample selection for sequencing, numbers of viruses to be sequenced, metadata and timeliness for sharing genetic sequence data (GSD) and opportunities for technical support.
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Sequencing SARS-CoV-2 in the Americas
The COVID-19 Genomic Surveillance Regional Network was created in 2020 not only to strengthen the sequencing capacity in the participating laboratories, but also for them to establish a routine SARS-CoV-2 genomic sequencing, as a strategy to increase the amoun...t of genetic sequence data available to the global community, which is critical to support the development of diagnostic protocols, the information for vaccine development and to better understand the evolution and molecular epidemiology of the SARS-CoV-2.
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Any individual that meets the suspected case definition of monkeypox should be offered testing in appropriately equipped laboratories by staff trained in the relevant technical and safety procedures. Confirmation of monkeypox virus infection is based on nucleic acid amplification testing (NAAT), usi...ng real-time or conventional polymerase chain reaction (PCR), for detection of unique sequences of viral DNA. PCR can be used alone, or in combination with sequencing. The recommended specimen type for laboratory confirmation of monkeypox is skin lesion material, including swabs of lesion surface and/or exudate, roofs from more than one lesion, or lesion crusts.
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This document aims to provide interim guidance for microbiology and virology experts, other laboratory professionals, laboratory managers, infectious disease programme managers, public health professionals and other stakeholders that provide primary, confirmatory or advanced testing for SARS-CoV-2, ...including genomic sequencing, or are involved in making decisions on establishing or scaling up capability and capacity to detect and characterize circulating SARS-CoV-2 variants.
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The Practical manual on laboratory strengthening, 2022 update provides practical guidance on implementation of WHO recommendations and best practices for TB laboratory strengthening. It is an updated version of the GLI Practical Guide to Laboratory Strengthening published in 2017 and provides the la...test practical guidance on use of newly recommended diagnostics as well as guidance in key technical areas, including quality assurance and quality management systems, specimen collection and registration, procurement and supply-chain management, diagnostic connectivity, biosafety, data management, human resources, strategic planning, and model algorithms. The key changes are:
inclusion of recent or updated WHO recommendations for tests to diagnose TB and detect drug resistance;
alignment with the latest WHO critical concentrations for phenotypic drug-susceptibility testing (DST) and the new definitions of pre-XDR-TB and XDR-TB;
updated information on building quality-assured TB testing and management capacity using the Stepwise Laboratory Quality Improvement Process Towards Accreditation (SLIPTA) approach (Score-TB package1);
updated information on assessing, analysing and optimising TB diagnostic networks; and
updated information on the use of next-generation sequencing (NGS) to detect mutations associated with drug resistance for surveillance purposes.
The document also provides references to resources and tools relevant for work on laboratory strengthening.
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Background: The human helminth infections include ascariasis, trichuriasis, hookworm infections, schistosomiasis, lymphatic filariasis (LF) and onchocerciasis. It is estimated that almost 2 billion people worldwide are infected with helminths. Whilst the WHO treatment guidelines for helminth infecti...ons are mostly aimed at controlling morbidity, there has been a recent shift with some countries moving towards goals of disease elimination through mass drug administration, especially for LF and onchocerciasis. However, as prevalence is driven lower, treating entire populations may no longer be the most efficient or cost-effective strategy. Instead, it may be beneficial to identify individuals or demographic groups who are persistently infected, often termed as being “predisposed” to infection, and target treatment at them.
Methods: The authors searched Embase, MEDLINE, Global Health, and Web of Science for all English language, humanbased papers investigating predisposition to helminth infections published up to October 31st, 2017. The varying definitions used to describe predisposition, and the statistical tests used to determine its presence, are summarised. Evidence for predisposition is presented, stratified by helminth species, and risk factors for predisposition to infection are identified and discussed.
Results: In total, 43 papers were identified, summarising results from 34 different studies in 23 countries. Consistent evidence of predisposition to infection with certain species of human helminth was identified. Children were regularly found to experience greater predisposition to Ascaris lumbricoides, Schistosoma mansoni and S. haematobium than adults. Females were found to be more predisposed to A. lumbricoides infection than were males. Household clustering of infection was identified for A. lumbricoides, T. trichiura and S. japonicum. Ascaris lumbricoides and T. trichiura also showed evidence of familial predisposition. Whilst strong evidence for predisposition to hookworm infection was identified, findings with regards to which groups were affected were considerably more varied than for other helminth species.
Conclusion: This review has found consistent evidence of predisposition to heavy (and light) infection for certain human helminth species. However, further research is needed to identify reasons for the reported differences between demographic groups. Molecular epidemiological methods associated with whole genome sequencing to determine ‘who infects whom’ may shed more light on the factors generating predisposition.
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Pathogen genomic surveillance has become a priority for public health systems in recent years. Genomic sequencing is increasingly being used to characterize pathogens and monitor important public health priorities (e.g. poliovirus, influenza virus, Mycobacterium tuberculosis and Vibrio cholerae, ant...imicrobial resistance (AMR)). The decrease in cost and time of sequencing and the exponential development of bioinformatic pipelines have played a critical role in integrating pathogen genomics into routine public health surveillance. The coronavirus disease 2019 (COVID-19) pandemic has highlighted the role that sequencing plays in the surveillance of infectious diseases. Sequencing facilitates earlier detection, more accurate investigation of outbreaks, closer real-time monitoring of pathogen evolution and tailored development and evaluation of interventions to inform local to global public health decision-making and action. However, there remains a need to coordinate efforts, leverage and link existing surveillance and laboratory networks and capabilities, and systematically integrate genetic sequence data (GSD) with clinical and epidemiological data to strengthen its utility.
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This document provides practical guidance on planning and implementing next-generation sequencing (NGS) technology for characterization of Mycobacterium tuberculosis complex (MTBC) bacteria. The aim is to detect mutations associated with drug resistance in the context of a surveillance system for tu...berculosis (TB).
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Africa CDC Institute of Pathogen Genomics (IPG) was launched in November 2019 and operates under the Division of Laboratory Systems and Networks.
IPG coordinate the implementation of molecular diagnostics, pathogen genomics and bioinformatics in National Public Health Institutions (NPHIs) and/or Re...fe-
-rence Laboratories (NRLs) across Africa.
Africa CDC and APHF are coordinating a continental initiative to maximize the benefits of molecular approaches and pathogen genomics for more effective
outbreak preparedness, prevention, response, and for the control and elimination of endemic diseases in Africa. One of Africa CDC’s flagship initiative is the Africa
Pathogen Genomics Initiative (Africa PGI), a partnership that aims to strengthen laboratory systems and enhance genomic surveillance by equipping the continent’s
public health institutions with the tools, training, and data infrastructure.
About the Project
In 2023, 166 outbreaks and public health events were reported in Africa. This calls for a resilient laboratory systems for timely detection and reporting of current and future outbreaks. This project aims to scale up molecular diagnostic and genomic sequencing-based detection and characterization of outbreaks.
Africa CDC is working with Member States to develop guidance, diagnostic algorithm, training and capacity building to enable outbreak detection, and reporting to inform public health response.
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Given the circulation of the variant of clade I of mpox virus (MPXV) in the African Region, which is associated in the African Region with sustained transmission and the occurrence of cases in a wider range of age groups, including children, the Pan American Health Organization/World Health Organiza...tion (PAHO/WHO) encourages Member States to remain vigilant to the possibility of introduction of this variant in the Americas, and to continue their surveillance efforts, including genomic sequencing of detected cases, with special emphasis on high-risk groups.
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