PulmZoom: Yield for Targeted Gene Panels in Genetically-Mediated Respiratory Disorders.

Objective: Targeted gene panels can be used to diagnose and exclude genetic disorders at a lower cost and sometimes shorter turn-around time than exome or genome sequencing. There are limited data on the yield of targeted gene panels for genetically-mediated respiratory disorders.

Methods: Review of testing results and chart review was conducted for all patients having received one or more targeted gene panels for interstitial lung disease, mucociliary disorders, and/or pulmonary vascular disease during a 5-year period.

Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases.

Introduction: Childhood interstitial and diffuse lung diseases (chILD) comprise a diverse group of rare disorders. Identifying the underlying cause is crucial for treatment, prognosis, and estimating recurrence risk. The objective of this study was to assess the utilization of genetic testing for subjects enrolled in the United States National Registry for ChILD, a multicenter observational study.

Advocacy and Health Equity: The Role of the Pediatric Pulmonologist.

Pediatric pulmonologists have the expertise to be advocates in many areas that affect the respiratory health of children. This article provides an overview of selected advocacy topics related to health equity and provides key examples that can improve child respiratory health in the clinical encounter and beyond.