New Familial, Sporadic Idiopathic Pulmonary Fibrosis Peripheral Blood Test Could Make Diagnosis Easier

A new study entitled “Familial and sporadic idiopathic pulmonary fibrosis: making the diagnosis from peripheral blood” published in October issue of BMC Genomics reports that the diagnosis of sporadic idiopathic pulmonary fibrosis from peripheral blood samples by identifying a functional genetic signature.The new findings could have a significant impact on making it quicker and easier to render a sporadic idiopathic pulmonary fibrosis diagnosis.

Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease characterized by lung tissue scarring and shortness of breath, leading to progressive decline in lung function and death. Diagnosis of the disease frequently requires a comprehensive complementary approach with different methods, that include clinical, pathological and radiological data. Additionally, it usually has to be confirmed by a multidisciplinary team of clinicians, radiologists and pathologists.

In this study, the authors hypothesized that a blood-based diagnostic test that if accurate in diagnosing IPF would avoid the necessity for radiation or surgery. The team thus developed a peripheral blood-based test to identify IPF by using a functional gene signature. This encompasses three steps — (1) set up a training sample, (2) elaborate a specified gene list and (3) measure the expression of the selected genes.

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130 individuals at the Interstitial Lung Disease and Familial Pulmonary Fibrosis Programs at National Jewish Health and Duke University, met all the necessary requirements to participate in the study. Gene expression profiles were performed in 89 patients with IPF and 26 normal controls. After data stratification, a par of the data was for the training set (66%) while another was part of the validation set (33%). After developing a gene signature model from the training set the authors could identify blood-based functional gene signature that distinguishes IPF from a normal gene signature, that was both accurate (77%), sensible (70%) and particularly important specific (100%).

Thus, the authors conclude that the technique allows for an IPF diagnosis that is both accurate and less invasive.