Survey on the Use of Whole-Genome Sequencing for Infectious Diseases Surveillance: Rapid Expansion of European National Capacities, 2015–2016

Joana Revez, Laura Espinosa, Barbara Albiger, Katrin Claire Leitmeyer, Marc Jean Struelens, ECDC National Microbiology Focal Points and Experts Group, Ákos Tóth, Algirdas Griškevičius, Alkiviadis Vatopoulos, Anna Skoczynska, Annalisa Pantosti, Bruno Coignard, Cyril Klement, Despo Pieridou, Dominique Caugant, Eleanor McNamara, Franz Allerberger, Gabriel Ionescu, Graziella Zahra, Guido Werner, Iva Christova, Joël Mossong, Jonathan Green, Jorge Machado, Julio Vazquez Moreno, Karl Kristinsson, Mattias Mild, Metka Paragi, Nico Meessen, Oksana Savicka, Pavla Křížová, Rita Peetso, Saara Salmenlinna, Steven Van Gucht, Thea K Fischer, Vera Katalinić-Janković

Whole-genome sequencing (WGS) has become an essential tool for public health surveillance and molecular epidemiology of infectious diseases and antimicrobial drug resistance. It provides precise geographical delineation of spread and enables incidence monitoring of pathogens at genotype level. Coupled with epidemiological and environmental investigations, it delivers ultimate resolution for tracing sources of epidemic infections. To ascertain the level of implementation of WGS-based typing for national public health surveillance and investigation of prioritized diseases in the European Union (EU)/European Economic Area (EEA), two surveys were conducted in 2015 and 2016. The surveys were designed to determine the national public health reference laboratories' access to WGS and operational WGS-based typing capacity for national surveillance of selected foodborne pathogens, antimicrobial-resistant pathogens, and vaccine-preventable diseases identified as priorities for European genomic surveillance. Twenty-eight and twenty-nine out of the 30 EU/EEA countries participated in the survey in 2015 and 2016, respectively. National public health reference laboratories in 22 and 25 countries had access to WGS-based typing for public health applications in 2015 and 2016, respectively. Reported reasons for limited or no access were lack of funding, staff, and expertise. Illumina technology was the most frequently used followed by Ion Torrent technology. The access to bioinformatics expertise and competence for routine WGS data analysis was limited. By mid-2016, half of the EU/EEA countries were using WGS analysis either as first- or second-line typing method for surveillance of the pathogens and antibiotic resistance issues identified as EU priorities. The sampling frame as well as bioinformatics analysis varied by pathogen/resistance issue and country. Core genome multilocus allelic profiling, also called cgMLST, was the most frequently used annotation approach for typing bacterial genomes suggesting potential bioinformatics pipeline compatibility. Further capacity development for WGS-based typing is ongoing in many countries and upon consolidation and harmonization of methods should enable pan-EU data exchange for genomic surveillance in the medium-term subject to the development of suitable data management systems and appropriate agreements for data sharing.