PVDOMICS

Abstract

The National Institutes of Health (NIH)/National Heart, Lung and Blood institute (NHLBI) launched an initiative, PVDOMICS (Redefining Pulmonary Hypertension through Pulmonary Vascular Disease Phenomics) that aims to augment the current pulmonary hypertension (PH) classification based on shared biological features. PVDOMICS will enroll 1500 participants with PH and disease and healthy comparators. Enrollees will undergo deep clinical phenotyping, and blood will be acquired for comprehensive omic analyses that will focus on discovery of molecular-based subtypes of pulmonary vascular disease (PVD) through application of high dimensional model-based clustering methods. In addition to an updated, molecular classification of PVD, the phenomic data generated will be a rich resource to the broad community of heart and lung disease investigators. Editorial, see p 1106 PH is a hemodynamic condition that causes increased blood pressure in the pulmonary arteries and the right heart leading to adverse clinical outcomes. The current World Symposium on Pulmonary Hypertension (WSPH) classification of PH is based on a combination of patient characteristics, clinical features, and cardiopulmonary hemodynamics, and these features are used to inform treatment options.1 Aside from heritable pulmonary arterial hypertension, this classification is not tied to molecular or cellular pathobiologic mechanism to explain the pathogenesis of PH. The NIH has a vested interest in understanding the causes and natural history of PH, as well as the discovery of effective treatment options. Since the first large NIH registry of patients with pulmonary arterial hypertension >30 years ago,2 significant advances in scientific knowledge and translational medicine have occurred, highlighting a need for updating the current clinical classification system. The NHLBI has sponsored several workshops focusing on PVD research strategic planning over the past decade. PVD encompasses PH and PVD without PH, for example, pulmonary vasculitis and pathological pulmonary vascular remodeling without hemodynamic criteria for PH. Experts identified the need …