The diagnostic trajectory of infants and children with clinical features of genetic disease.
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ABSTRACT:
SUBMITTER: Schroeder BE
PROVIDER: S-EPMC8609026 | biostudies-literature | 2021 Nov
REPOSITORIES: biostudies-literature
Publications
The diagnostic trajectory of infants and children with clinical features of genetic disease.
Schroeder Brock E BE Gonzaludo Nina N Everson Katie K Than Kyi-Sin KS Sullivan Jeff J Taft Ryan J RJ Belmont John W JW
NPJ genomic medicine 20211122 1
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 o ...[more]
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