The diagnostic trajectory of infants and children with clinical features of genetic disease

We characterized US pediatric patients with clinical indicators of genetic diseases, focusing on the burden of disease, utilization of genetic testing, and cost of care. Curated lists of diagnosis, procedure, and billing codes were used to identify patients with clinical indicators of genetic diseas...

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Bibliographic Details
Published in:Npj genomic medicine 2021-11, Vol.6 (1), p.98-98, Article 98
Main Authors: Schroeder, Brock E., Gonzaludo, Nina, Everson, Katie, Than, Kyi-Sin, Sullivan, Jeff, Taft, Ryan J., Belmont, John W.
Format: Article
Language:English
Subjects:
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Bioinformatics
Biomedical and Life Sciences
Biomedicine
Congenital defects
Disease
Gene Function
Gene Therapy
Genetic disorders
Genetic screening
Human Genetics
Infants
Internal Medicine
Patients
Pediatrics
Phenotypes
Population genetics
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Summary:We characterized US pediatric patients with clinical indicators of genetic diseases, focusing on the burden of disease, utilization of genetic testing, and cost of care. Curated lists of diagnosis, procedure, and billing codes were used to identify patients with clinical indicators of genetic disease in healthcare claims from Optum’s de-identified Clinformatics® Database (13,076,038 unique patients). Distinct cohorts were defined to represent permissive and conservative estimates of the number of patients. Clinical phenotypes suggestive of genetic diseases were observed in up to 9.4% of pediatric patients and up to 44.7% of critically-ill infants. Compared with controls, patients with indicators of genetic diseases had higher utilization of services (e.g., mean NICU length of stay of 31.6d in a cohort defined by multiple congenital anomalies or neurological presentations compared with 10.1d for patients in the control population ( P  
ISSN:2056-7944
2056-7944
DOI:10.1038/s41525-021-00260-2