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Psychological impact of genetic and clinical screening for pulmonary fibrosis on asymptomatic first-degree relatives of affected individuals
  1. Nikkola Carmichael1,2,
  2. Jose M Martinez Manzano3,
  3. Luisa D Quesada-Arias3,
  4. Sergio de Frías Poli3,
  5. Maura Alvarez Baumgartner3,
  6. Maria A Planchart Ferretto3,
  7. Lisa DiGianni1,4,
  8. Shannon Gampala-Sagar1,4,
  9. Dominick A Leone4,
  10. Swati Gulati3,
  11. Souheil Y El-Chemaly3,5,
  12. Hilary J Goldberg3,5,
  13. Rachel Putman3,5,
  14. Hiroto Hatabu5,6,
  15. Ivan O Rosas7,
  16. Gary M Hunninghake3,5,6,
  17. Benjamin A Raby1,2,5
  1. 1 Division of Pulmonary Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA
  2. 2 BWH Pulmonary Genetics Center, Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA
  3. 3 Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA
  4. 4 Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA
  5. 5 Harvard Medical School, Boston, Massachusetts, USA
  6. 6 Center for Pulmonary Functional Imaging, Department of Radiology, Brigham and Women's Hospital, Boston, Massachusetts, USA
  7. 7 Department of Medicine: Pulmonary, Critical Care and Sleep Medicine, Baylor College of Medicine, Houston, Texas, USA
  1. Correspondence to Dr Nikkola Carmichael, Division of Pulmonary Medicine, Boston Children's Hospital, Boston, MA 02115-5724, USA; nikkola.carmichael{at}


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.

  • idiopathic pulmonary fibrosis

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  • Correction notice This article has been corrected since it was published Online First. Figure 1 has been corrected.

  • Contributors IOR, BAR and GMH conceived of the project. NC, IOR, BAR and GMH planned and conducted the research, and analysed and interpreted the data. All authors contributed to the acquisition of data and the writing of the manuscript.

  • Funding RP is supported by National Institutes of Health (NIH) grant K08 HL140087. SYE-C is supported by NIH grant R01 HL130275. IOR is supported by NIH grants U01 HL133232 and R01 HL130974. GMH is supported by NIH grants R01 HL111024, R01 HL135142 and R01 HL130974. BAR is supported by NIH grants R01 HL118455, R01 HL130974, R01 HL123546, U19 AI095219 and P01 HL132825. This work was supported by an NIH grant from the National Heart, Lung, and Blood Institute (NHLBI) (R01 HL130974) and by the Brigham and Women’s Hospital Precision Medicine Initiative.

  • Competing interests HH reports grants and personal fees from Canon Medical Systems Inc, grants from Konica-Minolta Inc, and personal fees from Mitsubishi Chemical Co outside the submitted work. IOR reports grants from Roche/Genentech during the conduct of the study, grants and personal fees from Genentech and personal fees from Boehringer and Bristol Myers Squibb outside the submitted work. GMH reports personal fees from Boehringer-Ingelheim, Gerson Lehrman Group and Mitsubishi Chemical outside the submitted work.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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