Approach to Diagnosis
Of the 683 subjects analyzed to date, 579 have notation about whether
genetic testing was performed, and 544 have designation about history of
lung biopsy. Across all diagnoses reported in the Registry, 58% (n=336)
of subjects have undergone genetic testing and 39% (n=214) have had a
lung biopsy (Figure 3 ). Genetic testing utilization among the
five most frequent diagnoses (surfactant metabolic dysfunction, NEHI,
bronchiolitis obliterans, immune-mediated / connective tissue related,
and unclassified ILD), ranged from 40% for NEHI to 93% for surfactant
metabolic dysfunction. The frequency of lung biopsy differed among the
most frequent diagnoses (p -value = 0.0028), with the lowest among
subjects with NEHI (27%) and bronchiolitis obliterans (25%) and the
highest among subjects with surfactant metabolic dysfunction (48%) and
unclassified ILD (46%).