Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

Abstract Congenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are highest in infants with underlying genetic conditions, molecular diagnoses are ascertained in only ~20% of cases using widely adopted g...

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Autores principales:	Nathaly M. Sweeney, Shareef A. Nahas, Sh. Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David Dimmock, Stephen F. Kingsmore
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/9e711bd54acf4e9aa9ebc1d277aeea67
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spelling	oai:doaj.org-article:9e711bd54acf4e9aa9ebc1d277aeea672021-12-02T17:33:02ZRapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease10.1038/s41525-021-00192-x2056-7944https://doaj.org/article/9e711bd54acf4e9aa9ebc1d277aeea672021-04-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00192-xhttps://doaj.org/toc/2056-7944Abstract Congenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are highest in infants with underlying genetic conditions, molecular diagnoses are ascertained in only ~20% of cases using widely adopted genetic tests. Furthermore, cost of care for children and adults with CHD has increased dramatically. Rapid whole genome sequencing (rWGS) of newborns in intensive care units with suspected genetic diseases has been associated with increased rate of diagnosis and a net reduction in cost of care. In this study, we explored whether the clinical utility of rWGS extends to critically ill infants with structural CHD through a retrospective review of rWGS study data obtained from inpatient infants < 1 year with structural CHD at a regional children’s hospital. rWGS diagnosed genetic disease in 46% of the enrolled infants. Moreover, genetic disease was identified five times more frequently with rWGS than microarray ± gene panel testing in 21 of these infants (rWGS diagnosed 43% versus 10% with microarray ± gene panels, p = 0.02). Molecular diagnoses ranged from syndromes affecting multiple organ systems to disorders limited to the cardiovascular system. The average daily hospital spending was lower in the time period post blood collection for rWGS compared to prior (p = 0.003) and further decreased after rWGS results (p = 0.000). The cost was not prohibitive to rWGS implementation in the care of this cohort of infants. rWGS provided timely actionable information that impacted care and there was evidence of decreased hospital spending around rWGS implementation.Nathaly M. SweeneyShareef A. NahasSh. ChowdhurySergey BatalovMichelle ClarkSara CaylorJulie CakiciJohn J. NigroYan DingNarayanan VeeraraghavanCharlotte HobbsDavid DimmockStephen F. KingsmoreNature 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 Nathaly M. Sweeney Shareef A. Nahas Sh. Chowdhury Sergey Batalov Michelle Clark Sara Caylor Julie Cakici John J. Nigro Yan Ding Narayanan Veeraraghavan Charlotte Hobbs David Dimmock Stephen F. Kingsmore Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
description	Abstract Congenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are highest in infants with underlying genetic conditions, molecular diagnoses are ascertained in only ~20% of cases using widely adopted genetic tests. Furthermore, cost of care for children and adults with CHD has increased dramatically. Rapid whole genome sequencing (rWGS) of newborns in intensive care units with suspected genetic diseases has been associated with increased rate of diagnosis and a net reduction in cost of care. In this study, we explored whether the clinical utility of rWGS extends to critically ill infants with structural CHD through a retrospective review of rWGS study data obtained from inpatient infants < 1 year with structural CHD at a regional children’s hospital. rWGS diagnosed genetic disease in 46% of the enrolled infants. Moreover, genetic disease was identified five times more frequently with rWGS than microarray ± gene panel testing in 21 of these infants (rWGS diagnosed 43% versus 10% with microarray ± gene panels, p = 0.02). Molecular diagnoses ranged from syndromes affecting multiple organ systems to disorders limited to the cardiovascular system. The average daily hospital spending was lower in the time period post blood collection for rWGS compared to prior (p = 0.003) and further decreased after rWGS results (p = 0.000). The cost was not prohibitive to rWGS implementation in the care of this cohort of infants. rWGS provided timely actionable information that impacted care and there was evidence of decreased hospital spending around rWGS implementation.
format	article
author	Nathaly M. Sweeney Shareef A. Nahas Sh. Chowdhury Sergey Batalov Michelle Clark Sara Caylor Julie Cakici John J. Nigro Yan Ding Narayanan Veeraraghavan Charlotte Hobbs David Dimmock Stephen F. Kingsmore
author_facet	Nathaly M. Sweeney Shareef A. Nahas Sh. Chowdhury Sergey Batalov Michelle Clark Sara Caylor Julie Cakici John J. Nigro Yan Ding Narayanan Veeraraghavan Charlotte Hobbs David Dimmock Stephen F. Kingsmore
author_sort	Nathaly M. Sweeney
title	Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
title_short	Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
title_full	Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
title_fullStr	Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
title_full_unstemmed	Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
title_sort	rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/9e711bd54acf4e9aa9ebc1d277aeea67
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_version_	1718380077733904384

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

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