scholarly journals Landscape of SARS-CoV-2 genomic surveillance, public availability extent of genomic data, and epidemic shaped by variants: a global descriptive study

Author(s):  
Zhiyuan Chen ◽  
Andrew S. Azman ◽  
Xinhua Chen ◽  
Junyi Zou ◽  
Yuyang Tian ◽  
...  

AbstractBackgroundGenomic surveillance has shaped our understanding of SARS-CoV-2 variants, which have proliferated globally in 2021. Characterizing global genomic surveillance, sequencing coverage, the extent of publicly available genomic data coupled with traditional epidemiologic data can provide evidence to inform SARS-CoV-2 surveillance and control strategies.MethodsWe collected country-specific data on SARS-CoV-2 genomic surveillance, sequencing capabilities, public genomic data, and aggregated publicly available variant data. We divided countries into three levels of genomic surveillance and sequencing availability based on predefined criteria. We downloaded the merged and deduplicated SARS-CoV-2 sequences from multiple public repositories, and used different proxies to estimate the sequencing coverage and public availability extent of genomic data, in addition to describing the global dissemination of variants.FindingsSince the start of 2021, the COVID-19 global epidemic clearly featured increasing circulation of Alpha, which was rapidly replaced by the Delta variant starting around May 2021 and reaching a global prevalence of 96.6% at the end of July 2021. SARS-CoV-2 genomic surveillance and sequencing availability varied markedly across countries, with 63 countries performing routine genomic surveillance and 79 countries with high availability of SARS-CoV-2 sequencing. Less than 3.5% of confirmed SARS-CoV-2 infections were sequenced globally since September 2020, with the lowest sequencing coverage in the WHO regions of Eastern Mediterranean, South East Asia, and Africa. Across different variants, 28-52% of countries with explicit reporting on variants shared less than half of their variant sequences in public repositories. More than 60% of demographic and 95% of clinical data were absent in GISAID metadata accompanying sequences.InterpretationOur findings indicated an urgent need to expand sequencing capacity of virus isolates, enhance the sharing of sequences, the standardization of metadata files, and supportive networks for countries with no sequencing capability.Research in contextEvidence before this studyOn September 3, 2021, we searched PubMed for articles in any language published after January 1, 2020, using the following search terms: (“COVID-19” OR “SARS-CoV-2”) AND (“Global” OR “Region”) AND (“genomic surveillance” OR “sequencing” OR “spread”). Among 43 papers identified, few papers discussed the global diversity in genomic surveillance, sequencing, public availability of genomic data, as well as the global spread of SARS-CoV-2 variants. A paper from Furuse employed the publicly GISAID data to evaluate the SARS-CoV-2 sequencing effort by country from the perspectives of “fraction”, “timeliness”, and “openness”. Another viewpoint paper by Case Western Reserve University’s team discussed the impediments of genomic surveillance in several countries during the COVID-19 pandemic. The paper as reported by Campbell and colleagues used the GISAID data to present the global spread and estimated transmissibility of recently emerged SARS-CoV-2 variants. We also found several studies that reported the country-level genomic surveillance and spread of variants. To our knowledge, no research has quantitatively depicted the global SARS-CoV-2 genomic surveillance, sequencing ability, and public availability extent of genomic data.Added value of this studyThis study collected country-specific data on SARS-CoV-2 genomic surveillance, sequencing capabilities, public genomic data, and aggregated publicly available variant data as of 20 August 2021. We found that genomic surveillance strategies and sequencing availability is globally diverse. Less than 3.5% of confirmed SARS-CoV-2 infections were sequenced globally since September 2020. Our analysis of publicly deposited SARS-CoV-2 sequences and officially reported number of variants implied that the public availability extent of genomic data is low in some countries, and more than 60% of demographic and 95% of clinical data were absent in GISAID metadata accompanying sequences. We also described the pandemic dynamics shaped by VOCs.Implications of all the available evidenceOur study provides a landscape for global sequencing coverage and public availability extent of sequences, as well as the evidence for rapid spread of SRAS-CoV-2 variants. The pervasive spread of Alpha and Delta variants further highlights the threat of SARS-CoV-2 mutations despite the availability of vaccines in many countries. It raised an urgent need to do more work on defining the ideal sampling schemes for different purposes (e.g., identifying new variants) with an additional call to share these data in public repositories to allow for further rapid scientific discovery.

2021 ◽  
Author(s):  
Hongjie Yu ◽  
Zhiyuan Chen ◽  
Andrew Azman ◽  
Xinhua Chen ◽  
Junyi Zou ◽  
...  

Abstract Genomic surveillance has shaped our understanding of SARS-CoV-2 variants, which have proliferated globally in 2021.We collected country-specific data on SARS-CoV-2 genomic surveillance, sequencing capabilities, public genomic data from multiple public repositories, and aggregated publicly available variant data. Then, different proxies were used to estimate the sequencing coverage and public availability extent of genomic data, in addition to describing the global dissemination of variants. We found that the COVID-19 global epidemic clearly featured increasing circulation of Alpha since the start of 2021, which was rapidly replaced by the Delta variant starting around May 2021. SARS-CoV-2 genomic surveillance and sequencing availability varied markedly across countries, with 63 countries performing routine genomic surveillance and 79 countries with high availability of SARS-CoV-2 sequencing. We also observed a marked heterogeneity of sequenced coverage across regions and countries. Across different variants, 21-46% of countries with explicit reporting on variants shared less than half of their variant sequences in public repositories. Our findings indicated an urgent need to expand sequencing capacity of virus isolates, enhance the sharing of sequences, the standardization of metadata files, and supportive networks for countries with no sequencing capability.


2019 ◽  
Author(s):  
Andrea Sanchini ◽  
Christine Jandrasits ◽  
Julius Tembrockhaus ◽  
Thomas Andreas Kohl ◽  
Christian Utpatel ◽  
...  

AbstractIntroductionImproving the surveillance of tuberculosis (TB) is especially important for multidrug-resistant (MDR) and extensively drug-resistant (XDR)-TB. The large amount of publicly available whole-genome sequencing (WGS) data for TB gives us the chance to re-use data and to perform additional analysis at a large scale.AimWe assessed the usefulness of raw WGS data of global MDR/XDR-TB isolates available from public repositories to improve TB surveillance.MethodsWe extracted raw WGS data and the related metadata of Mycobacterium tuberculosis isolates available from the Sequence Read Archive. We compared this public dataset with WGS data and metadata of 131 MDR- and XDR-TB isolates from Germany in 2012-2013.ResultsWe aggregated a dataset that includes 1,081 MDR and 250 XDR isolates among which we identified 133 molecular clusters. In 16 clusters, the isolates were from at least two different countries. For example, cluster2 included 56 MDR/XDR isolates from Moldova, Georgia, and Germany. By comparing the WGS data from Germany and the public dataset, we found that 11 clusters contained at least one isolate from Germany and at least one isolate from another country. We could, therefore, connect TB cases despite missing epidemiological information.ConclusionWe demonstrated the added value of using WGS raw data from public repositories to contribute to TB surveillance. By comparing the German and the public dataset, we identified potential international transmission events. Thus, using this approach might support the interpretation of national surveillance results in an international context.


Author(s):  
Yorgos Goletsis ◽  
Themis P. Exarchos ◽  
Nikolaos Giannakeas ◽  
Markos G. Tsipouras ◽  
Dimitrios I. Fotiadis

In this article, we address decision support for cancer by exploiting clinical data and identifying mutations on tumour suppressor genes. The goal is to perform data integration between medicine and molecular biology by developing a framework where clinical and genomic features are appropriately combined in order to handle cancer diseases. The constitution of such a decision support system is based on (a) cancer clinical data and (b) biological information that is derived from genomic sources. Through this integration, real time conclusions can be drawn for early diagnosis, staging and more effective cancer treatment.


2019 ◽  
Vol 35 (S1) ◽  
pp. 63-64
Author(s):  
Gro-Hilde Severinsen ◽  
Line Silsand ◽  
Anne Ekeland

IntroductionThere are enormous expectations for e-health solutions to support high quality healthcare services, with accessibility, and effectiveness as key goals. E-health encompasses a wide range of information and communication technologies applied to health care, and focuses on combining clinical activity, technical development, and political requirements. Hence, e-health solutions must be evaluated in relation to the desired goals, to justify the high costs of such solutions.MethodsHealth technology assessment (HTA) aims to produce rational decisions for purchasing new technologies and evaluating healthcare investments, like drugs and medical equipment, by measuring added value in relation to clinical effectiveness, safety, and cost effectiveness. It is desired to also apply HTA assessment on large scale e-health solutions, but traditional quantitative HTA methodology may not be applicable to complex e-health systems developed and implemented as ongoing processes over years. Systematic reviews and meta-analyses of these processes risk being outdated when published, therefore action research designed to work with complex, large scale programs may be a more suitable approach.ResultsIn the project, we followed the development of a new process-oriented electronic patient record system (EPR) in northern Norway. Part of the process was structuring clinical data to be used in electronic forms within the system. This was the first time a health region structured the clinical data and designed the forms; receiving feedback alongside the process was very important. The goal was to use structured forms as a basis for reusing EPR data within and between systems, and to enable clinical decision support.DiscussionAfter designing a prototype of a structured form, we wrote an assessment report focusing on designing a methodology for such development, which stakeholders to include, and how to divide the work between the health region and the system vendor. The answers to such questions will have both practical and economic consequences for designing the next phase of the process.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Cristian Tebé ◽  
Joan Valls ◽  
Pau Satorra ◽  
Aurelio Tobías

Abstract Background Data analysis and visualization is an essential tool for exploring and communicating findings in medical research, especially in epidemiological surveillance. Results Data on COVID-19 diagnosed cases and mortality, from January 1st, 2020, onwards is collected automatically from the European Centre for Disease Prevention and Control (ECDC). We have developed a Shiny application for data visualization and analysis of several indicators to follow the SARS-CoV-2 epidemic using ECDC data. A country-specific tool for basic epidemiological surveillance, in an interactive and user-friendly manner. The available analyses cover time trends and projections, attack rate, population fatality rate, case fatality rate, and basic reproduction number. Conclusions The COVID19-World online web application systematically produces daily updated country-specific data visualization and analysis of the SARS-CoV-2 epidemic worldwide. The application may help for a better understanding of the SARS-CoV-2 epidemic worldwide.


2018 ◽  
Vol 1 (1) ◽  
pp. 263-274 ◽  
Author(s):  
Marylyn D. Ritchie

Biomedical data science has experienced an explosion of new data over the past decade. Abundant genetic and genomic data are increasingly available in large, diverse data sets due to the maturation of modern molecular technologies. Along with these molecular data, dense, rich phenotypic data are also available on comprehensive clinical data sets from health care provider organizations, clinical trials, population health registries, and epidemiologic studies. The methods and approaches for interrogating these large genetic/genomic and clinical data sets continue to evolve rapidly, as our understanding of the questions and challenges continue to emerge. In this review, the state-of-the-art methodologies for genetic/genomic analysis along with complex phenomics will be discussed. This field is changing and adapting to the novel data types made available, as well as technological advances in computation and machine learning. Thus, I will also discuss the future challenges in this exciting and innovative space. The promises of precision medicine rely heavily on the ability to marry complex genetic/genomic data with clinical phenotypes in meaningful ways.


10.2196/14710 ◽  
2020 ◽  
Vol 8 (4) ◽  
pp. e14710 ◽  
Author(s):  
Phillip Park ◽  
Soo-Yong Shin ◽  
Seog Yun Park ◽  
Jeonghee Yun ◽  
Chulmin Shin ◽  
...  

Background The analytical capacity and speed of next-generation sequencing (NGS) technology have been improved. Many genetic variants associated with various diseases have been discovered using NGS. Therefore, applying NGS to clinical practice results in precision or personalized medicine. However, as clinical sequencing reports in electronic health records (EHRs) are not structured according to recommended standards, clinical decision support systems have not been fully utilized. In addition, integrating genomic data with clinical data for translational research remains a great challenge. Objective To apply international standards to clinical sequencing reports and to develop a clinical research information system to integrate standardized genomic data with clinical data. Methods We applied the recently published ISO/TS 20428 standard to 367 clinical sequencing reports generated by panel (91 genes) sequencing in EHRs and implemented a clinical NGS research system by extending the clinical data warehouse to integrate the necessary clinical data for each patient. We also developed a user interface with a clinical research portal and an NGS result viewer. Results A single clinical sequencing report with 28 items was restructured into four database tables and 49 entities. As a result, 367 patients’ clinical sequencing data were connected with clinical data in EHRs, such as diagnosis, surgery, and death information. This system can support the development of cohort or case-control datasets as well. Conclusions The standardized clinical sequencing data are not only for clinical practice and could be further applied to translational research.


Author(s):  
V. Davidaviciene ◽  
I. Meidute-Kavaliauskiene ◽  
R. Paliulis

Members from different generations create challenges for marketing specialists due to their unique behaviour specifics and in the context of constant technology development, these challenges become only harder. In the current marketing situation, there is a new challenge – outreach and interest for generation Y consumers. A question arises – which means to apply and which of them would be effective. It is a new field of research both for scientists and marketing practitioners. The article analyses the members of generation Y because in their case there are most prominent scientific discovery inquiries on their behaviour and marketing management decisions. By evaluating that, the aim of the article is to create a model of the influence of social media for generation Y consumer purchase decisions. The need to offer a new model has appeared due to the changes in the current world that are changing the habits and features of the society, constantly improving technologies are changing the lifestyle, values and needs of people. The marketing decisions that were applied before are not presenting the desired results in the current market. Previous research allows identifying the specifics of generation Y, however, due to constantly changing technology environment it is not clearly known how this generation makes the decisions to purchase something. When wishing to find the right way to sell products and services to this generation, it is necessary to understand it and to find ways to communicate with it. When creating social media content and creating added value to the customers, it is vital to understand the complexity of the external and internal factors that determine their choice to buy. To achieve the goal of this article, the theoretical part presents a complex analysis of factors that determine consumer behaviour in social media, applications of generation theory for making marketing decisions; characteristics of generation Y were identified. In this research, marketing factors that influence the consumer’s decision to buy were analysed, their effects and application in the purchase process of generation Y consumers were evaluated. Keywords: electronic marketing, e-marketing, marketing, model, social media, technologies.


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