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

Abstract 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 genet...

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Autores principales:	Brock E. Schroeder, Nina Gonzaludo, Katie Everson, Kyi-Sin Than, Jeff Sullivan, Ryan J. Taft, John W. Belmont
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/eb3713872ddf488086a7b015eca24269
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spelling	oai:doaj.org-article:eb3713872ddf488086a7b015eca242692021-11-28T12:42:15ZThe diagnostic trajectory of infants and children with clinical features of genetic disease10.1038/s41525-021-00260-22056-7944https://doaj.org/article/eb3713872ddf488086a7b015eca242692021-11-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00260-2https://doaj.org/toc/2056-7944Abstract 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 < 0.001)) and higher overall costs. Very few patients received any genetic testing (4.2–8.4% depending on cohort criteria). These results highlight the substantial proportion of the population with clinical features associated with genetic disorders and underutilization of genetic testing in these populations.Brock E. SchroederNina GonzaludoKatie EversonKyi-Sin ThanJeff SullivanRyan J. TaftJohn W. BelmontNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Brock E. Schroeder Nina Gonzaludo Katie Everson Kyi-Sin Than Jeff Sullivan Ryan J. Taft John W. Belmont The diagnostic trajectory of infants and children with clinical features of genetic disease
description	Abstract 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 < 0.001)) and higher overall costs. Very few patients received any genetic testing (4.2–8.4% depending on cohort criteria). These results highlight the substantial proportion of the population with clinical features associated with genetic disorders and underutilization of genetic testing in these populations.
format	article
author	Brock E. Schroeder Nina Gonzaludo Katie Everson Kyi-Sin Than Jeff Sullivan Ryan J. Taft John W. Belmont
author_facet	Brock E. Schroeder Nina Gonzaludo Katie Everson Kyi-Sin Than Jeff Sullivan Ryan J. Taft John W. Belmont
author_sort	Brock E. Schroeder
title	The diagnostic trajectory of infants and children with clinical features of genetic disease
title_short	The diagnostic trajectory of infants and children with clinical features of genetic disease
title_full	The diagnostic trajectory of infants and children with clinical features of genetic disease
title_fullStr	The diagnostic trajectory of infants and children with clinical features of genetic disease
title_full_unstemmed	The diagnostic trajectory of infants and children with clinical features of genetic disease
title_sort	diagnostic trajectory of infants and children with clinical features of genetic disease
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/eb3713872ddf488086a7b015eca24269
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The diagnostic trajectory of infants and children with clinical features of genetic disease

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