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Do you routinely perform genetic testing in patients presenting with pulmonary fibrosis who endorse a family history of fibrotic lung disease?

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Do you perform genetic testing in patients presenting with pulmonary fibrosis who endorse a family history of fibrotic lung disease?

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1 Answer
Mednet MemberInvited Expert
Pulmonology · Cleveland Clinic
Answered on

I receive this question frequently when I hear from other clinicians and I think it is a very thought-provoking question. We know that patients with pulmonary fibrosis (PF) commonly have first-degree relatives with interstitial lung disease (ILD). Some studies quote numbers as high as 20% so it is definitely a common scenario [1]. In theory, genetic testing would be an appropriate next step in the workup of a patient with this history PF. However, I do not routinely order it at this time in my current practice. Rather, my current approach is an informal version of genetic counseling. I tend to treat genetic testing like a procedure discussing risks and benefits. My concern is that patients and clinicians become falsely reassured by negative...

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