Genetic testing for diffuse lung diseases in children

Abstract

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.

ATS core curriculum 2023. Pediatric pulmonary medicine: Respiratory disorders in infants

“…Approach to the infant with suspected PHInitial evaluation should include a thorough history and physical examination, as well as echocardiography. Cardiac catheterization should be obtained for hemodynamic data if there is an unclear etiology, a need to understand a response to targeted therapy, to T A B L E 2 Advantages and disadvantages of genetic testing in infant diffuse lung disease 67. Advantages DisadvantagesProvide specific diagnosis (from currently identified genetic mutations)High costNoninvasive blood or saliva testing (may avoid lung biopsy)Long turn-around time Early referral to lung transplant or specialized centers Challenges in interpretation (variants of uncertain significance) Challenge in choosing the right method (whole exome sequencing, whole genome sequencing, gene panels) T A B L E 3 Standardized recommendations for lung biopsy in pediatric diffuse lung disease.…”