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Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease. Pediatr Cardiol 2017 Oct;38(7):1465-1470 PMID: 28725922 PMCID: PMC5628185

Pubmed ID

28725922

DOI

10.1007/s00246-017-1685-7

Abstract

Genetic testing is routinely performed on infants with critical congenital heart disease (CHD). This project reviewed the effect of implementing a genetic testing protocol in this population. Charts of infants with critical CHD were reviewed for genetic testing and results across two time periods: the time before implementation of a genetic testing protocol (pre-protocol) and the time after implementation (post-protocol). The use of karyotype, 22q11.2 Deletion testing, and chromosomal microarray were compared across these two time periods. Records of 891 infants were reviewed. 562 (63%) had at least one of the target genetic tests completed. During the pre-protocol time period, 66% of patients who had genetic testing underwent multiple tests versus 24% during the post-protocol time period (p < 0.01). The rate of patients who underwent genetic testing increased from 60% in the pre-protocol time period to 77% in the post-protocol time period (p < 0.01). The rate of diagnosis of genetic conditions during the pre-protocol period was 26% versus 36% during the post-protocol period (p = 0.01). There was a reduction in cost to patients by $5105.59 per diagnosis during the post-protocol period. Patients with critical CHD in the post-protocol period were less likely to undergo multiple genetic tests and more likely to have a diagnosis of genetic disease. In addition there was a significant reduction in cost per diagnosis during the post-protocol time period. Genetic testing protocols for infants with critical CHD promoted more efficient use of genetic testing and increased the rate of diagnosis of genetic conditions in this population.

Author List

Geddes GC, Basel D, Frommelt P, Kinney A, Earing M

Authors

Donald Basel MD Chief, Associate Professor in the Pediatrics department at Medical College of Wisconsin
Michael Earing MD Professor in the Pediatrics department at Medical College of Wisconsin
Peter C. Frommelt MD Professor in the Pediatrics department at Medical College of Wisconsin
Gabrielle Christine Geddes MD Assistant Professor in the Pediatrics department at Medical College of Wisconsin




Scopus

2-s2.0-85025073557   1 Citations

MESH terms used to index this publication - Major topics in bold

Costs and Cost Analysis
Female
Genetic Testing
Heart Defects, Congenital
Humans
Infant
Karyotype
Male
jenkins-FCD Prod-321 98992d628744e349846c2f62ac68f241d7e1ea70