An in vitro diagnostic certified point of care single nucleotide test for IL28B polymorphisms
| العنوان: | An in vitro diagnostic certified point of care single nucleotide test for IL28B polymorphisms |
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| المؤلفون: | Darragh Duffy, Stanislas Pol, Laurent Abel, Aurelie Baudin, Arnaud Fontanet, Alexandra Rohel, Muriel Vray, Tan-Phuc Buivan, Ioannis Theodorou, Ventzislava Petrov-Sanchez, Matthew L. Albert, Ben Reed, Gino Miele, Shaun Ainsworth, Estelle Mottez |
| المساهمون: | Immunobiologie des Cellules dendritiques, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Translationnelle - Center for Translational Science (CRT), Institut Pasteur [Paris] (IP), Centre d'Immunologie Humaine (CIH), Genedrive plc [Manchester], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Epidémiologie des Maladies Emergentes - Emerging Diseases Epidemiology, Pasteur-Cnam Risques infectieux et émergents (PACRI), Institut Pasteur [Paris] (IP)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Institut Pasteur [Paris] (IP)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), Centre d'enseignement Cnam Paris (CNAM Paris), Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), ANRS France Recherche Nord & sud Sida-hiv hépatites, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University [New York], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'hépatologie médicale [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This work was financed by the European Commission FP7 project PoC-HCV (Grant agreement no 601851), European Project: 601851,EC:FP7:HEALTH,FP7-HEALTH-2013-INNOVATION-2,POC-HCV(2013), Vougny, Marie-Christine, Point-of-care tests to revolutionise the clinical management of patients infected by Hepatitis C virus - POC-HCV - - EC:FP7:HEALTH2013-09-01 - 2016-08-31 - 601851 - VALID, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris], Institut Pasteur [Paris]-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Institut Pasteur [Paris]-Conservatoire National des Arts et Métiers [CNAM] (CNAM), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Pasteur [Paris] - Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Translationnelle (CRT), Université Paris Descartes - Paris 5 (UPD5), AP-HP Groupe hospitalier Cochin (Paris), Epidémiologie des Maladies Emergentes, Institut Pasteur [Paris] - Conservatoire National des Arts et Métiers [CNAM] (CNAM), Institut Pasteur de Dakar, Institut Pasteur de Dakar - Réseau International des Instituts Pasteur (RIIP), Recherches fondamentales, cliniques et thérapeutiques sur les hépatites virales, ANRS, Génétique Humaine des Maladies Infectieuses, Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'immunologie [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Pitié-Salpêtrière [APHP], European Project : 601851, EC:FP7:HEALTH, FP7-HEALTH-2013-INNOVATION-2, POC-HCV(2013) |
| المصدر: | PLoS ONE PLoS ONE, 2017, 12 (9), pp.e0183084. ⟨10.1371/journal.pone.0183084⟩ PLoS ONE, Vol 12, Iss 9, p e0183084 (2017) PLoS ONE, Public Library of Science, 2017, 12 (9), pp.e0183084. ⟨10.1371/journal.pone.0183084⟩ PLoS ONE, Public Library of Science, 2017, 12 (9), pp.e0183084. 〈10.1371/journal.pone.0183084〉 |
| بيانات النشر: | Public Library of Science, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, RNA viruses, Male, Heredity, Physiology, [SDV]Life Sciences [q-bio], Buccal swab, lcsh:Medicine, Artificial Gene Amplification and Extension, Disease, Hepacivirus, Bioinformatics, Polymerase Chain Reaction, 0302 clinical medicine, Medicine and Health Sciences, Medicine, Prospective cohort study, lcsh:Science, Pathology and laboratory medicine, Aged, 80 and over, Multidisciplinary, Hepatitis C virus, Physics, Melting, Medical microbiology, Middle Aged, Condensed Matter Physics, Clinical Laboratory Sciences, 3. Good health, Body Fluids, [SDV] Life Sciences [q-bio], Clinical Laboratories, Genetic Mapping, Blood, Physical Sciences, Viruses, [SDV.IMM]Life Sciences [q-bio]/Immunology, 030211 gastroenterology & hepatology, Female, Pathogens, Anatomy, Phase Transitions, Research Article, Adult, Genotyping, [SDV.IMM] Life Sciences [q-bio]/Immunology, Point-of-Care Systems, Single-nucleotide polymorphism, Variant Genotypes, Research and Analysis Methods, Microbiology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Diagnostic Medicine, Genetics, SNP, Humans, Molecular Biology Techniques, Molecular Biology, Point of care, Aged, Demography, Flaviviruses, business.industry, Interleukins, lcsh:R, Organisms, Viral pathogens, Biology and Life Sciences, Reproducibility of Results, Hepatitis C, Chronic, Precision medicine, Hepatitis viruses, Microbial pathogens, 030104 developmental biology, [SDV.GEN.GPO] Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], lcsh:Q, Interferons, business |
| الوصف: | International audience; Numerous genetic polymorphisms have been identified as associated with disease or treatment outcome, but the routine implementation of genotyping into actionable medical care remains limited. Point-of-care (PoC) technologies enable rapid and real-time treatment decisions, with great potential for extending molecular diagnostic approaches to settings with limited medical infrastructure (e.g., CLIA certified diagnostic laboratories). With respect to resource-limited settings, there is a need for simple devices to implement biomarker guided treatment strategies. One relevant example is chronic hepatitis C infection, for which several treatment options are now approved. Single nucleotide polymorphisms (SNPs) in the IL-28B / IFNL3 locus have been well described to predict both spontaneous clearance and response to interferon based therapies. We utilized the Genedrive® platform to develop an assay for the SNP rs12979860 variants (CC, CT and TT). The assay utilizes a hybrid thermal engine, permitting rapid heating and cooling, enabling an amplification based assay with genetic variants reported using endpoint differential melting cure analysis in less than 60 minutes. We validated this assay using non-invasive buccal swab sampling in a prospective study of 246 chronic HCV patients, achieving 100% sensitivity and 100% specificity (95% exact CI: 98.8-100%)) in 50 minutes as compared to conventional lab based PCR testing. Our results provide proof of concept that precision medicine is feasible in resource-limited settings, offering the first CE-IVD (in vitro diagnostics) validated PoC SNP test. We propose that IL-28B genotyping may be useful for directing patients towards lower cost therapies, and rationing use of costly direct antivirals for use in those individuals showing genetic risk. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1932-6203 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f91c40ad7bbeb2235a57f780f87f6dTest http://europepmc.org/articles/PMC5587232Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....d6f91c40ad7bbeb2235a57f780f87f6d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19326203 |
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