4.6 Editorial Material

Psychological impact of genetic and clinical screening for pulmonary fibrosis on asymptomatic first-degree relatives of affected individuals

Journal

THORAX
Volume 76, Issue 6, Pages 621-623

Publisher

BMJ PUBLISHING GROUP
DOI: 10.1136/thoraxjnl-2020-216244

Keywords

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Funding

  1. National Institutes of Health (NIH) [K08 HL140087]
  2. NIH [R01 HL130275, U01 HL133232, R01 HL111024, R01 HL135142, R01 HL118455, R01 HL130974, R01 HL123546, U19 AI095219, P01 HL132825]
  3. NIH grant from the National Heart, Lung, and Blood Institute (NHLBI) [R01 HL130974]
  4. Brigham and Women's Hospital Precision Medicine Initiative

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Screening for pulmonary fibrosis in undiagnosed first-degree relatives showed minimal psychological impact, with over 90% reporting no or mild decisional regret. However, increased measures of decisional regret and negative feelings were observed in those with low carbon monoxide diffusion capacity or interstitial lung abnormalities. Telomere length and genetic testing results did not significantly affect regret.
Screening for pulmonary fibrosis may help to identify early stages of the disease. We assessed the psychological impact of screening undiagnosed first-degree relatives of patients with pulmonary fibrosis by administering two validated measures after participants received their results: the Decisional Regret Scale and the Feelings About genomiC Testing Results Questionnaire. More than 90% of relatives reported either no or mild decisional regret. Increased measures of decisional regret and negative feelings were present in those found to have a low diffusion capacity of carbon monoxide or interstitial lung abnormalities. Results of telomere length and genetic testing did not significantly impact regret.

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