The Pulmonary Fibrosis Foundation (PFF) has issued a position statement that outlines recommendations for when genetic testing should be considered for patients with pulmonary fibrosis (PF). The statement advises that patients with possible or likely genetic forms of pulmonary fibrosis be considered for genetic evaluation and counseling when possible to determine whether genetic testing is appropriate.
Included in the PFF’s statement are clinical scenarios suggestive of a genetic-mediated PF, which include familial pulmonary fibrosis (FPF), short telomere syndrome and syndromic interstitial lung disease (ILD), as well as considerations for genetic evaluation and counseling when appropriate.
“It has become clear that genetic factors play an important role in certain patients with PF,” said Dr. Gregory Cosgrove, chief medical officer for the PFF. “These guidelines equip health care providers with the recommended protocol to identify genetic pretest probability, educate patients on the potential risks and benefits and effectively execute the appropriate preventative care plan for potentially at-risk patients.”
Key questions when considering genetic testing include whether the results of such testing would:
1) influence disease management;
2) assist in risk stratification and/or;
3) provide relevant information for the patient or patient’s family
The statement advises that, in general, the decision to perform genetic testing should be influenced by the likelihood of identifying a culprit mutation (pretest probability) in an individual. Testing of asymptomatic individuals with a family history of PF is generally not recommended if a pathogenic mutation is not known in their family.
Genetic evaluations and counseling assists patients’ understanding and helps them adapt to the medical, psychological and familial implications of genetic diseases. It can be completed at a PFF Care Center, a local medical genetics clinic or through telehealth genetic services. For patients seeking more information on genetic testing, the PFF’s statement is available here. Heath care providers can find more comprehensive information here.
Pulmonary fibrosis is a progressive, incurable lung disease with various causes affecting more than 200,000 people in the U.S. Over 50,000 new cases are diagnosed each year. For more information about pulmonary fibrosis, visit www.AboutPF.org.