Gene Set for the Diagnosis of Active Pulmonary Tuberculosis

Stanford researchers have identified a small set of genes that can be used to diagnose active tuberculosis (TB), distinguish active TB from latent TB or other diseases, and predict progression from latent to active TB months before conventional tests. TB is a worldwide public health problem. It is hard to accurately diagnose, which leads to difficulties in selecting appropriate treatment. Traditional diagnostic methods cannot distinguish between latent and active TB and have lower sensitivity in HIV-positive patients. To overcome these limitations the inventors have identified this set of genes that provides a robust diagnostic for active TB. The gene set not only detects active TB; it can also distinguish active TB from latent TB and other diseases, predict who will develop active TB up to 6 months before sputum conversion, and correlate with lung inflammation severity. In addition, it can be used to track treatment response as expression of the gene set falls with successful treatment. This gene set has broad applications for TB diagnosis, progression prediction, and treatment response monitoring.

Stage of Research
The inventors have extensively validated the gene set in external datasets and demonstrated it is a robust diagnostic for active TB. The technology has now been prospectively validated in three independent cohorts across different clinical settings and meets WHO target product profile criteria for TB diagnostics.