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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8609026/ https://www.ncbi.nlm.nih.gov/pubmed/34811359 http://dx.doi.org/10.1038/s41525-021-00260-2 |
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author | Schroeder, Brock E. Gonzaludo, Nina Everson, Katie Than, Kyi-Sin Sullivan, Jeff Taft, Ryan J. Belmont, John W. |
author_facet | Schroeder, Brock E. Gonzaludo, Nina Everson, Katie Than, Kyi-Sin Sullivan, Jeff Taft, Ryan J. Belmont, John W. |
author_sort | Schroeder, Brock E. |
collection | PubMed |
description | 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 | Online Article Text |
id | pubmed-8609026 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-86090262021-12-01 The diagnostic trajectory of infants and children with clinical features of genetic disease Schroeder, Brock E. Gonzaludo, Nina Everson, Katie Than, Kyi-Sin Sullivan, Jeff Taft, Ryan J. Belmont, John W. NPJ Genom Med Article 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. Nature Publishing Group UK 2021-11-22 /pmc/articles/PMC8609026/ /pubmed/34811359 http://dx.doi.org/10.1038/s41525-021-00260-2 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Article Schroeder, Brock E. Gonzaludo, Nina Everson, Katie Than, Kyi-Sin Sullivan, Jeff Taft, Ryan J. Belmont, John W. The diagnostic trajectory of infants and children with clinical features of genetic disease |
title | 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_short | 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 |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8609026/ https://www.ncbi.nlm.nih.gov/pubmed/34811359 http://dx.doi.org/10.1038/s41525-021-00260-2 |
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