When should a genetic Interstitial Lung Disease (ILD) panel be sent for an Interstitial Lung Disease (ILD) patient?

From the Guidelines

A genetic ILD panel should be sent for an ILD patient when there is a suspected familial context or clinical and biological signs suggesting a genetic cause, as recommended by the French practical guidelines for the diagnosis and management of idiopathic pulmonary fibrosis 1. When evaluating an ILD patient, it is essential to consider the possibility of a genetic etiology, particularly in cases with a family history of ILD or early-onset disease.

• Key indications for genetic testing include:
  • Familial pulmonary fibrosis with two or more affected relatives
  • ILD with unexplained liver disease or bone marrow failure
  • Telomere-related features, such as premature graying, abnormal skin pigmentation, or cytopenias
  • Radiographic or histopathologic patterns inconsistent with the clinical presentation The genetic panel typically targets genes associated with telomere maintenance, surfactant dysfunction, and other known genetic causes of ILD, such as the telomerase complex genes and the surfactant protein-C genes, as proposed by the French practical guidelines 1. Genetic testing can help establish a definitive diagnosis, guide management decisions, inform prognosis, identify family members at risk, and determine eligibility for lung transplantation.
• The benefits of genetic testing include:
  • Avoiding potentially harmful immunosuppression in certain genetic forms
  • Informing family members about their risk and eligibility for lung transplantation
  • Guiding management decisions and determining prognosis Results of the genetic panel should be interpreted with genetic counseling support to explain implications for both the patient and family members.

From the Research

Genetic ILD Panel

When considering sending a genetic ILD panel for an ILD patient, several factors come into play.

• The decision to send a genetic ILD panel should be based on the patient's clinical presentation, family history, and the presence of specific symptoms or radiologic patterns 2, 3.
• A family history of ILD is an important factor, as it may indicate a genetic component to the disease 3, 4.
• Patients with a family history of ILD, or those with specific symptoms such as dyspnea on exertion, cough, or radiologic patterns of fibrosing ILD, may benefit from genetic testing 5, 6.

Indications for Genetic Testing

Genetic testing may be indicated in the following situations:

• Patients with a family history of ILD, particularly those with a history of surfactant gene mutations such as SFTPA1, SFTPA2, SFTPC, or ABCA3 4, 6.
• Patients with unclassifiable or atypical forms of ILD, as they may have a genetic component to their disease 3, 6.
• Patients with a history of lung cancer or other cancers, as some genetic mutations may increase the risk of developing these conditions 4.

Timing of Genetic Testing

The timing of genetic testing is crucial, and it is recommended that it be performed:

• Early in the diagnostic workup, particularly if there is a strong family history of ILD or if the patient presents with specific symptoms or radiologic patterns 2, 3.
• As part of a comprehensive diagnostic evaluation, including clinical assessment, radiologic imaging, and physiologic testing 5.

Access to Genetic Testing

Access to genetic testing is an important consideration, and it is essential that:

• Pulmonologists and other healthcare providers have access to genetic testing and counseling services 2, 3.
• Patients and their families are informed about the availability and potential benefits of genetic testing 2, 3.