Analysis of 52 Genes Can Accurately Predict IPF Mortality, Study Shows

An evaluation of 52 gene profiles in blood samples can help predict the clinical outcome of patients with idiopathic pulmonary fibrosis (IPF), finds a study published in The Lancet Respiratory Medicine. If confirmed in future studies, this gene expression profile evaluation could improve currently used outcome measures, as well as IPF patient care.

IPF is a progressive and deadly disease whose only cure is lung transplant. Without one, patients survive three to four years on average. Given its severity, an accurate and rapid diagnosis is crucial to prompt, adequate care.

An evaluation of clinical parameters such as forced vital capacity that are indicative of lung function can help identify the patient’s disease stage. Yet such measures usually don’t predict a patient’s outcome accurately.

In a previous study, researchers from the Yale School of Medicine, the University of Chicago and the University of Pittsburgh identified 52 genes that could potentially predict transplant-free survival in patients with IPF. Of the 52-gene panel, only four genes were validated, and only in a small group of patients.

In the new study, “Validation of a 52-gene risk profile for outcome prediction in patients with idiopathic pulmonary fibrosis: an international, multicentre, cohort study,” the team — collaborating with U.S., British and German researchers — evaluated the validity of all 52 genes as outcome predictive biomarkers for IPF patients.

The team tested the 52-gene panel in a total of 425 blood samples collected from IPF patients from six independent cohorts. Based on the levels of each gene, researchers classified patients as low and high risk for IPF mortality.

Overall, they found that the 52-gene risk profile was able to accurately predict individual patient survival in all the groups they analyzed.

“IPF is known to have a variable and unpredictable course,” Dr. José Herazo-Maya, assistant professor of medicine at Yale and the study’s lead author, said in a news release. “Therefore we were so impressed that the results were validated in all six cohorts.”

When combined with currently used clinical measurements including the “gender, age and physiology” index, the gene panel improved its accuracy in predicting mortality. In addition, the risk profile worsened as the disease progresses and improved in patients receiving U.S. government-approved therapies. These results further confirmed the outcome predictive accuracy of the 52-gene signature.

“If additional studies confirm the treatment effect we observed, shifts in the 52-gene risk profile could eventually be used to indicate response to therapy, and allow more efficient drug trial designs and disease management plans,” said Dr. Naftali Kaminski, Yale professor of medicine and principal investigator, and the study’s senior author.