Table 3 Questions addressing screening and screening programs for relatives
If a first degree relative has a proven pathogenic variant in telomere-related gene or surfactant protein gene, do you (n)*: | Yes | No |
|---|---|---|
Recommend screening for ILD among their relatives (200)? | 80% | 20% |
If a pathogenic variant in telomere-related gene is found in a first degree relative, do you recommend: | Yes | No |
Screening for liver disease in this individual (196)? | 66% | 34% |
Screening for bone marrow in this individual (196)? | 61% | 39% |
Screening for other organ involvement in this individual (197)? | 25% | 75% |
Screening program for first degree relatives. Do you: | Yes | No |
Have a standardized screening program for first degree relative with a pathogenic mutation (203)? | 16% | 84% |
Perform a somatic evaluation as part of this program (195)?** | 57% | 43% |
Recommend HRCT as part of this program (199)? | 84% | 16% |
Recommend pulmonary function tests as part of this program (198)? | 85% | 15% |