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Application of Whole Genome Sequencing in the infectious disease’ in vitro diagnostics (IVD) industry

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Application of Whole Genome Sequencing in the infectious disease’ in vitro diagnostics (IVD) industry

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http://www.fao.org/about/meetings/wgs-on-food-safety-management/en/

Applications of WGS in industry. Presentation from the Technical Meeting on the impact of Whole Genome Sequencing (WGS) on food safety management -23-25 May 2016, Rome, Italy.

http://www.fao.org/about/meetings/wgs-on-food-safety-management/en/

Applications of WGS in industry. Presentation from the Technical Meeting on the impact of Whole Genome Sequencing (WGS) on food safety management -23-25 May 2016, Rome, Italy.

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Application of Whole Genome Sequencing in the infectious disease’ in vitro diagnostics (IVD) industry

  1. 1. APPLICATION OF WHOLE GENOME SEQUENCING IN THE INFECTIOUS DISEASE’ IVD INDUSTRY Alex van Belkum Corporate VP Microbiology R&D, bioMérieux, France Honorary Professor Molecular Microbiology Rotterdam, The Netherlands
  2. 2. IMPORTANT STATEMENTS 1.I accept monthly sums of bioMérieux money. 2.This presentation will not define overall bioMérieux strategies and policies. 3.This review is biased because of personal (not business) preferences. 4.This certainly is incomplete!
  3. 3. API/ID32® STRIPS: A NEW DATA BASE BUILT ON 56277 MICROBIAL PROFILES. L. Nougier2 , F. Allard2 , B. Celliere2 , N. Desserrieres2 , R. Martelin2 , Y. Bentoumi1 , A. Van Belkum2 , G. Durand2 1 Systems R & D, 2 Microbiology R & D, bioMérieux, La Balme Les Grottes, France Results: Performance went up to 90% of correct identification. The database optimization now allows to claim the identification of 901 different species, where 49 species have been renamed and 11 species have been added. Conclusion: The API/ID32® range is recognized as a gold standard bacterial identification tool and is still considered as very attractive despite the emergence of more innovative technologies. The range provides ease of use and reliable identification for developing countries and remains an alternative and backup method for the automated solutions.
  4. 4. WHAT IS A (BACTERIAL) SPECIES IN THE ERA OF BACTERIAL GENOME SEQUENCING? ● A phylogenomic species concept that relies on phylogenetic and genomic approaches for describing species is proposed. ● Although 16S rRNA sequences are still often used to ascertain the taxonomy of Bacteria and Archaea, less conserved genes must be added. ● Current applications of the phylogenomic species concept, including multiple-locus sequence analysis, are being introduced to identify clades that can be classified as species. ● Horizontal gene transfers pose a major challenge for any taxonomy, but genomic approaches will help resolve this issue.
  5. 5. TEST DEVELOPMENT PROCESS
  6. 6. BIG DATA IN CLINICAL MICROBIOLOGY PRACTICE?
  7. 7. 7 BIG DATA IN CLINICAL MICROBIOLOGY PRACTICE
  8. 8. NEXT GENERATION SEQUENCING AND WHOLE GENOME SEQUENCES DNA sequencing Proteins Other polymers Small molecules ThebeginningofanewASTera??
  9. 9. Results : •Assembly •Resistance •Virulence •Phylogeny reads OUTBREAK SUSPICION ORDER SEND RECEIVE DECIDE & ACT 11 22 33 44 NGS Added-Value made ACCESSIBLE Service Lab using MiSeq BACTERIAL EPIDEMIOLOGY USING EpiSeq
  10. 10. BIOLOGICALLY AND CLINICALLY INSTRUCTIVE?
  11. 11. SEQUENCE EXPLOITATION: “CLASSIC DNA MAP” WITH ANNOTATION
  12. 12. Pseudomonas aeruginosa ANTIBIOGRAM: PHENOTYPE TO GENOTYPE
  13. 13. AR GENES CATALOGUE Provided by Stéphane Schicklin β-lactams Locus known to confer resistance to: Trimethoprim Aminoglycosides Quninolones Glycopeptides Fusidic acid
  14. 14. Pseudomonas aeruginosa RESISTANCE GENES IN THE MAJOR CLONES
  15. 15. Pseudomonas aeruginosa INTEGROMICS
  16. 16. THE Pseudomonas aeruginosa RESISTOME
  17. 17. P. aeruginosa RESISTOME-WIDE ASSOCIATION STUDIES
  18. 18. SOME GLOBAL STATEMENTS 1. Regulatory agencies need to be “educated” towards optimal processing of new genomic testing formats. 2. IVD companies need to work with regulatory agencies to develop optimal models for guaranteeing data quality. 3. Sharing data works well in emergency situations (SARS, MERS etc), the moment research is more independent and externally (publicly) funded the need to publish or patent may interfere with open data policies. 4. Genomic testing formats should be amenable to step-by- step development where new bacterial species or new markers can be introduced sequentially. 5. Database management and quality control should usually be quite centralized. 6. Garbage in, garbage out …

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