Abstract

Detection of circulating free DNA (cfDNA) has transformed the field of oncology and prenatal diagnostics. Clinical application of cfDNA for disease diagnosis and monitoring, however, is relatively recent in the field of infectious disease. The potential of cfDNA as a non-invasive diagnostic and monitoring tool is especially promising for tuberculosis (TB) as it enables detection of both pulmonary and extrapulmonary TB from easily accessible urine and/or blood samples from any age group. However, despite the potential of cfDNA detection to identify TB, very few studies are described in the literature to date. A comprehensive search of the literature identified 15 studies that report detecting M. tuberculosis DNA in the blood and urine of TB patients with non-genitourinary disease, but in only six of them were the methodological steps considered suitable for cfDNA isolation and detection. The sensitivities and specificities for diagnosis of pulmonary and extrapulmonary TB cases reported in these six studies are highly variable, falling in the range of 29-79% and 67-100%, respectively. While most studies could not meet the performance requirements of the high-priority target product profiles (TPP) published by the World Health Organization (WHO), the study results nonetheless show promise for a point-of-care detection assay. Better designed prospective studies, using appropriate samples, will be required to validate cfDNA as a TB biomarker.

View details for DOI 10.1128/JCM.01234-18

View details for PubMedID 30404942