Perceptions of Genetic Testing: A Mixed-Methods Study of Patients with Pulmonary Fibrosis and Their First-Degree Relatives

Grant-Orser, Amanda; Avitzur, N.; Morisset, Julie; Fell, Charlene D.; Johannson, Kerri A.

doi:10.1513/annalsats.202111-1300oc

Cited by 4 publications

(1 citation statement)

References 12 publications

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“…The known familial incidence of IPF provides evidence of the genetic background of the disease 14 . Genetic testing may reveal the necessity of screening for other etiopathogenesis factors of IPF 15 , including multisystem genetic disorders such as dyskeratosis congenita (DC) 16 , neuroendocrine cell hyperplasia of infancy 17 , Niemann - Pick disease 18 , Hermansky-Pudlak syndrome, and short telomere syndrome 14 .…”

Section: Introductionmentioning

confidence: 99%

Genomic Fingerprint Associated with Familial Idiopathic Pulmonary Fibrosis: A Review

Ding¹,

Gao²,

Xue³

et al. 2023

Int. J. Med. Sci.

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Idiopathic pulmonary fibrosis (IPF) is a severe interstitial lung disease; although the recent introduction of two anti-fibrosis drugs, pirfenidone and Nidanib, have resulted in a significant reduction in lung function decline, IPF is still not curable. Approximately 2-20% of patients with IPF have a family history of the disease, which is considered the strongest risk factor for idiopathic interstitial pneumonia. However, the genetic predispositions of familial IPF (f-IPF), a particular type of IPF, remain largely unknown. Genetics affect the susceptibility and progression of f-IPF. Genomic markers are increasingly being recognized for their contribution to disease prognosis and drug therapy outcomes. Existing data suggest that genomics may help identify individuals at risk for f-IPF, accurately classify patients, elucidate key pathways involved in disease pathogenesis, and ultimately develop more effective targeted therapies. Since several genetic variants associated with the disease have been found in f-IPF, this review systematically summarizes the latest progress in the gene spectrum of the f-IPF population and the underlying mechanisms of f-IPF. The genetic susceptibility variation related to the disease phenotype is also illustrated. This review aims to improve the understanding of the IPF pathogenesis and facilitate his early detection.

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