Dr. Lawrence Nogee, Johns Hopkins University School of Medicine, Baltimore, MD

Specific clinical and laboratory features of interstitial (diffuse) lung diseases in children will be reviewed, with an emphasis on recognizing disorders that are likely to have a genetic basis and their inheritance patterns. A particular focus will be on disorders related to the surfactant system, but more recently recognized disorders that also involve other organ systems will also be reviewed. Practical issues related to genetic testing will be discussed, including advantages and disadvantages of genetic testing, selection of appropriate tests based upon the clinical phenotype, interpretation of genetic testing results, the roles for whole exome or whole genome sequencing, and next steps when genetic testing results are negative or ambiguous.

Learning Objectives
At the end of this presentation, attendees will be able to:

  • describe at least two typical clinical presentations of children presenting with diffuse lung disease that would lead one to consider genetic testing;
  • describe the differences between targeted gene testing, next-generation panels, and whole exome sequencing; and
  • name at least two advantages of genetic testing in the diagnosis of pediatric interstitial lung disease and one limitation of such testing.