From the Guidelines
For young patients with idiopathic pulmonary fibrosis (IPF), genetic testing should focus on telomere-related genes and surfactant protein genes, specifically analysis of TERT, TERC, PARN, RTEL1, DKC1, and TINF2 (telomere-related genes) as well as SFTPC, SFTPA2, and ABCA3 (surfactant protein genes) as recommended by the Pulmonary Fibrosis Foundation genetic testing work group 1.
Importance of Genetic Testing
Genetic testing is crucial for young IPF patients, especially those under 60 years of age, with a family history of pulmonary fibrosis, or features suggesting telomere syndrome, as it may influence treatment decisions, family counseling, and evaluation for lung transplantation 1.
Recommended Genes for Testing
The recommended genes for testing include:
- Telomere-related genes: TERT, TERC, PARN, RTEL1, DKC1, and TINF2
- Surfactant protein genes: SFTPC, SFTPA2, and ABCA3
Clinical Scenarios for Genetic Testing
Genetic testing should be considered in patients with a personal or family history of telomeropathy manifestations, syndromic presentations (short telomere syndrome, Hermansky-Pudlak syndrome), or young age at disease onset (< 50 years) 1.
Method of Testing
Genetic testing can be performed via blood samples, with results typically available within 4-6 weeks 1.
Influence on Treatment Decisions
Understanding the genetic basis of IPF in young patients is crucial as it may influence treatment decisions, including the potential need for earlier intervention, closer monitoring, and consideration of lung transplantation 1.
From the Research
Genetic Tests for Young IPF Patients
- Genetic tests are indicated for young IPF patients, especially those with a family history of the disease 2, 3.
- The tests can help identify mutations in genes associated with IPF, such as telomerase (TERT and TERC) and surfactant genes (SFTPC and SFTPA2) 3, 4.
- The genetic tests can be used to diagnose familial pulmonary fibrosis (FPF) and to identify individuals at risk of developing IPF 2.
- The tests are typically ordered by a specialist in clinical genetics, in consultation with a respiratory specialist involved in interstitial lung diseases 2.
Genes Associated with IPF
- Telomerase genes (TERT and TERC) are commonly mutated in IPF patients, and are associated with short telomere lengths and lung stem cell exhaustion 3.
- Surfactant genes (SFTPC and SFTPA2) are also associated with IPF, and are involved in alveolar epithelial endoplasmic reticulum stress 3.
- Other genes associated with IPF include those involved in telomere homeostasis (RTEL1, PARN, DKC1, TINF, NAF1) and complex syndromes (COPA, TMEM173, HPS18, NF1, FAM111B, NDUFAF6, GATA2) 2, 4.
Clinical Implications
- Genetic testing can help identify individuals at risk of developing IPF, and can inform clinical decision-making 4.
- The results of genetic testing can also be used to predict disease progression and response to treatment 4.
- However, the treatment of IPF is currently unknown, and further research is needed to develop effective therapies 2, 5, 6.