Genetics in Interstitial Lung Disease
A growing number of interstitial lung diseases have an identifiable genetic basis, particularly pulmonary fibrosis occurring in families or associated with a telomere biology disorder. Dr Mackintosh founded and chairs the Australasian ILD Genetics Multidisciplinary Meeting, a national forum providing expert genetic assessment for complex ILD.
When to consider genetic testing
Genetic assessment may be appropriate where there is a family history of pulmonary fibrosis, early-onset or otherwise unexplained fibrosis, or clinical features suggestive of a telomere biology disorder — such as premature grey hair, unexplained low blood counts or liver disease. Dr Mackintosh's research group has examined the diagnostic utility of genetic testing in adults with pulmonary fibrosis.
The testing process
Testing commonly focuses on telomere-related genes (including TERT, TERC, PARN and RTEL1) and, particularly in younger patients, surfactant-related genes (including SFTPC, SFTPA1, SFTPA2, ABCA3 and NKX2-1). Testing follows genetic counselling to explain the possible results and its implications for the patient and relatives. Complex or ambiguous results can be discussed at the Australasian ILD Genetics Multidisciplinary Meeting.
Patient information
- Understanding the Role of Genetics in Pulmonary Fibrosis — fact sheet, Lung Foundation Australia and the Centre of Research Excellence in Pulmonary Fibrosis.
Frequently asked questions
Which genes are tested for pulmonary fibrosis?
Testing commonly focuses on telomere-related genes (including TERT, TERC, PARN and RTEL1) and, particularly in younger patients, surfactant-related genes (including SFTPC, SFTPA1, SFTPA2, ABCA3 and NKX2-1). The specific genes tested depend on the clinical picture.
Does a genetic diagnosis change treatment?
It can. A genetic diagnosis can inform monitoring, transplant planning and screening advice for relatives.
Should family members be tested too?
This depends on the specific gene variant identified and the family history, and is usually addressed as part of genetic counselling, which can also discuss the implications of testing for relatives.
For referring clinicians
Dr Mackintosh welcomes referrals for genetic evaluation of patients with suspected genetic pulmonary fibrosis, including discussion at the Australasian ILD Genetics Multidisciplinary Meeting for complex cases.
Related
Familial interstitial lung disease and telomere biology disorders — the two most common genetic causes of pulmonary fibrosis seen in practice.