Title
RISK6, a 6-gene transcriptomic signature of TB disease risk, diagnosis and treatment response
Date Issued
01 December 2020
Access level
open access
Resource Type
journal article
Author(s)
Penn-Nicholson A.
Mbandi S.K.
Thompson E.
Mendelsohn S.C.
Suliman S.
Chegou N.N.
Malherbe S.T.
Darboe F.
Erasmus M.
Hanekom W.A.
Bilek N.
Fisher M.
Kaufmann S.H.E.
Winter J.
Murphy M.
Wood R.
Morrow C.
Van Rhijn I.
Moody B.
Murray M.
Andrade B.B.
Sterling T.R.
Sutherland J.
Naidoo K.
Padayatchi N.
Walzl G.
Hatherill M.
Zak D.
Scriba T.J.
Kafaar F.
Workman L.
Mulenga H.
Hughes E.J.
Xasa O.
Veldsman A.
Cloete Y.
Abrahams D.
Moyo S.
Gelderbloem S.
Tameris M.
Geldenhuys H.
Ehrlich R.
Verver S.
Geiter L.
Black G.F.
van der Spuy G.
Stanley K.
Kriel M.
Du Plessis N.
Nene N.
Roberts T.
Kleynhans L.
Gutschmidt A.
Smith B.
Loxton A.G.
Tromp G.
Tabb D.
Ottenhoff T.H.M.
Klein M.R.
Haks M.C.
Franken K.L.M.C.
Geluk A.
van Meijgaarden K.E.
Joosten S.A.
Boom W.H.
Thiel B.
Mayanja-Kizza H.
Joloba M.
Zalwango S.
Nsereko M.
Okwera B.
Kisingo H.
Parida S.K.
Golinski R.
Maertzdorf J.
Weiner J.
Jacobson M.
Dockrell H.
Smith S.
Gorak-Stolinska P.
Hur Y.G.
Lalor M.
Lee J.S.
Crampin A.C.
French N.
Ngwira B.
Ben-Smith A.
Watkins K.
Ambrose L.
Simukonda F.
Mvula H.
Chilongo F.
Saul J.
Branson K.
Mahomed H.
Downing K.
Abel B.
Bowmaker M.
Kagina B.
Chung W.K.
Publisher(s)
Nature Research
Abstract
Improved tuberculosis diagnostics and tools for monitoring treatment response are urgently needed. We developed a robust and simple, PCR-based host-blood transcriptomic signature, RISK6, for multiple applications: identifying individuals at risk of incident disease, as a screening test for subclinical or clinical tuberculosis, and for monitoring tuberculosis treatment. RISK6 utility was validated by blind prediction using quantitative real-time (qRT) PCR in seven independent cohorts. Prognostic performance significantly exceeded that of previous signatures discovered in the same cohort. Performance for diagnosing subclinical and clinical disease in HIV-uninfected and HIV-infected persons, assessed by area under the receiver-operating characteristic curve, exceeded 85%. As a screening test for tuberculosis, the sensitivity at 90% specificity met or approached the benchmarks set out in World Health Organization target product profiles for non-sputum-based tests. RISK6 scores correlated with lung immunopathology activity, measured by positron emission tomography, and tracked treatment response, demonstrating utility as treatment response biomarker, while predicting treatment failure prior to treatment initiation. Performance of the test in capillary blood samples collected by finger-prick was noninferior to venous blood collected in PAXgene tubes. These results support incorporation of RISK6 into rapid, capillary blood-based point-of-care PCR devices for prospective assessment in field studies.
Volume
10
Issue
1
Language
English
OCDE Knowledge area
Sistema respiratorio
Enfermedades infecciosas
Scopus EID
2-s2.0-85085386687
PubMed ID
Source
Scientific Reports
ISSN of the container
20452322
Sponsor(s)
Support for this study was provided by the Bill and Melinda Gates Foundation (grants OPP1023483, OPP1065330, and Grand Challenges in Global Health (GC6-74 grant 37772)) and the Strategic Health Innovation Partnerships (SHIP) Unit of the South African Medical Research Council with funds received from the South African Department of Science and Technology. The ACS study was also supported by BMGF GC12 (grant 37885) for QuantiFERON testing. The IMPRESS trial was supported by the European and Developing Countries Clinical Trials Partnership (EDCTP: TA.2011.40200.044), and by Bayer Healthcare (moxifloxacin donation). The AE-TBC and ScreenTB projects were funded by the EDCTP with grant numbers IP_2009_32040 and DRIA2014-311 respectively. RePORT Brazil is supported by the Departamento de Ciência e Tecnologia (DECIT) - Secretaria de Ciência e Tecnologia (SCTIE) – Ministério da Saúde (MS), Brazil [25029.000507/2013-07] the National Institutes of Allergy and Infectious Diseases [U01-AI069923], and CRDF Global [DAA3-18-64151, DAA3-18-64152 and DAA3-18-64153]. Work in Peru was supported by the Tuberculosis Research Unit Network (U19 AI111224). SCM received training in research that was supported by the Fogarty International Center of the National Institutes of Health under Award Number D43 TW010559. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. F.D. was supported by the Margaret McNamara educational grant for women in developing countries. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Sources of information:
Directorio de Producción Científica
Scopus