Genetic testing for diffuse lung diseases in children

Newly developing genomic technologies are an increasingly important part of clinical care and thus, it is not only important to understand the technologies and their limitations, but to also interpret the findings in an actionable fashion. Clinical geneticists and genetic counselors are now an integ...

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Bibliographic Details
Published in:Pediatric pulmonology 2024-09, Vol.59 (9), p.2286-2297
Main Authors: Hamvas, Aaron, Chaudhari, Bimal P., Nogee, Lawrence M.
Format: Article
Language:English
Subjects:
Child
childhood
genetic testing
Genetic Testing - methods
genetics
Humans
interstitial lung disease
Lung Diseases - diagnosis
Lung Diseases - genetics
Lung Diseases, Interstitial - diagnosis
Lung Diseases, Interstitial - genetics
respiratory distress syndrome
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Summary:Newly developing genomic technologies are an increasingly important part of clinical care and thus, it is not only important to understand the technologies and their limitations, but to also interpret the findings in an actionable fashion. Clinical geneticists and genetic counselors are now an integral part of the clinical team and are able to bridge the complexities of this rapidly changing science between the bedside clinicians and patients. This manuscript reviews the terminology, the current technology, some of the known genetic disorders that result in lung disease, and indications for genetic testing with associated caveats. Because this field is evolving quickly, we also provide links to websites that provide continuously updated information important for integrating genomic technology results into clinical decision‐making.
ISSN:8755-6863
1099-0496
1099-0496
DOI:10.1002/ppul.26447