What do genetic tests mean in Pulmonary Fibrosis / ILD? (genomic testing interpretation)

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What do genetic test results mean in cases of pulmonary fibrosis / interstitial lung diseases (ILD)? How are genetic testing results interpreted?
Super complex topic in this episode:
- When do we request genetic (genomic) testing for patients with ILD / pulmonary fibrosis?
- Where is genetic testing conducted?
- What tests are normally done for pulmonary fibrosis? (telomere length, telomere-related genes, surfactant-related genes)
- How are abnormal genetic variants identified? Do all variants carry the same risk?
- Why do we need genetic counselling to correctly interpret the results?
#pulmonaryfibrosis #ILD #genetictesting
Please leave comments below if you want me to cover other topics in ILD.
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The opinions presented on this channel are my own and do not constitute medical advice in specific cases. If you are watching/listening to this content as a patient, you must seek personalized advice from your own healthcare team (who can provide you with a consultation and appropriate treatment and advice. This information presented here may not apply in your case. If you are a health professional, please use your professional judgement when treating patients.

Опубликовано:

26 фев 2024

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Комментарии : 5

@ushamehta8997 19 дней назад

I am Usha Mehta. I am suffering wit pulmonary fibrosis since October 2023 . I’m still getting up and down Struggling with daily leaving, I’m looking for some exercise and get done with my life thank you

@niallgallagher7842 4 месяца назад

Bedankt

@user-tr1wq2cs8h 4 месяца назад

Hello my mother passed away fm idiopathic pulmonary fibrosis in 2010. My brother & I both were diagnosed with idiopathic pulmonary fibrosis familial type. I recently had some genetic testing & my telomeres are @ the 16th percentile. I am 64 yrs old female. Can you pls suggest what other testing we should have in the near future. Thank you. Robbin

@user-nt1gp9vu8p 4 месяца назад

Dr. Stephan, I have pulmonary fibrosis and 2:38 my situation is more complicated that i can not take steroids because of m😮y comprimised inmune system, and I am struglering to keep what is left of my lungs, so I wanted to ask if you think that a stemcell treatment could be of help in any way? Or referme to one of your videos if you all ready have one, please. Thank you, Richk2

@pmartin7397 4 месяца назад

HI Dr Stephan. Is the same treatment, ie Esbriet,applicable to Idiopathetic Pulmonary Fibrois as it would be to delayed Post Covid Fibrosis ? I got a serious respiratory infection at the beginning of the Pandemic resulting in Lunng Scarring which wasnt referred to a pulmonologist until 18 months later when another scan indicated more serious lung disease. Esbriet without any antiinflammatory medicines were prescribed. Consultant didn't get full history until much later. Im really disgusted at the needless delay in my treatment.