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

Area of Science:

• Pediatric Pulmonology
• Medical Genetics
• Rare Diseases

Background:

• Childhood interstitial and diffuse lung diseases (chILD) are rare, heterogeneous conditions.
• Accurate diagnosis is essential for treatment, prognosis, and recurrence risk assessment.
• Genetic testing plays a crucial role in identifying the underlying cause of chILD.

Purpose of the Study:

• To evaluate the current utilization of genetic testing in children enrolled in the US National Registry for chILD.
• To analyze the patterns and outcomes of genetic testing in this cohort.

Main Methods:

• Retrospective review and analysis of genetic data from subjects in the US National Registry for chILD.
• Correlation of genetic testing results with clinical characteristics.

Main Results:

• Genetic testing was performed in 55.5% of 609 enrolled children.
• Diagnostic genetic testing results were obtained in 22.8% of tested subjects, with SFTPC-associated surfactant metabolism dysfunction being the most common diagnosis.
• Gene panels were the most frequent testing method, followed by exome sequencing (ES) or whole genome sequencing (WGS).
• A significant proportion of children with unclassified interstitial lung disease (ILD) had limited or no genetic testing, including underutilization of ES/WGS.

Conclusions:

• Genetic testing utilization in chILD is inconsistent.
• Development of standardized genetic testing recommendations for suspected chILD is necessary.
• Broader adoption of ES/WGS is recommended for improved genetic discovery in children with undiagnosed lung diseases.