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Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation

INTRODUCTION: In light of the prospective Prenatal Assessment of Genomes and Exomes (PAGE) study, this paper aimed to determine the additional costs of using exome sequencing (ES) alongside or in place of chromosomal microarray (CMA) in a fetus with an identified congenital anomaly. METHODS: A decis...

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Autores principales: Kodabuckus, Shahela S., Quinlan-Jones, Elizabeth, McMullan, Dominic J., Maher, Eamonn R., Hurles, Matthew E., Barton, Pelham M., Kilby, Mark D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446299/
https://www.ncbi.nlm.nih.gov/pubmed/31962312
http://dx.doi.org/10.1159/000504976
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author Kodabuckus, Shahela S.
Quinlan-Jones, Elizabeth
McMullan, Dominic J.
Maher, Eamonn R.
Hurles, Matthew E.
Barton, Pelham M.
Kilby, Mark D.
author_facet Kodabuckus, Shahela S.
Quinlan-Jones, Elizabeth
McMullan, Dominic J.
Maher, Eamonn R.
Hurles, Matthew E.
Barton, Pelham M.
Kilby, Mark D.
author_sort Kodabuckus, Shahela S.
collection PubMed
description INTRODUCTION: In light of the prospective Prenatal Assessment of Genomes and Exomes (PAGE) study, this paper aimed to determine the additional costs of using exome sequencing (ES) alongside or in place of chromosomal microarray (CMA) in a fetus with an identified congenital anomaly. METHODS: A decision tree was populated using data from a prospective cohort of women undergoing invasive diagnostic testing. Four testing strategies were evaluated: CMA, ES, CMA followed by ES (“stepwise”); CMA and ES combined. RESULTS: When ES is priced at GBP 2,100 (EUR 2,407/USD 2,694), performing ES alone prenatally would cost a further GBP 31,410 (EUR 36,001/USD 40,289) per additional genetic diagnosis, whereas the stepwise would cost a further GBP 24,657 (EUR 28,261/USD 31,627) per additional genetic diagnosis. When ES is priced at GBP 966 (EUR 1,107/USD 1,239), performing ES alone prenatally would cost a further GBP 11,532 (EUR 13,217/USD 14,792) per additional genetic diagnosis, whereas the stepwise would cost a further additional GBP 11,639 (EUR 13,340/USD 14,929) per additional genetic diagnosis. The sub-group analysis suggests that performing stepwise on cases indicative of multiple anomalies at ultrasound scan (USS) compared to cases indicative of a single anomaly, is more cost-effective compared to using ES alone. DISCUSSION/CONCLUSION: Performing ES alongside CMA is more cost-effective than ES alone, which can potentially lead to improvements in pregnancy management. The direct effects of test results on pregnancy outcomes were not examined; therefore, further research is recommended to examine changes on the projected incremental cost-effectiveness ratios.
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spelling pubmed-74462992020-08-26 Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation Kodabuckus, Shahela S. Quinlan-Jones, Elizabeth McMullan, Dominic J. Maher, Eamonn R. Hurles, Matthew E. Barton, Pelham M. Kilby, Mark D. Fetal Diagn Ther Original Paper INTRODUCTION: In light of the prospective Prenatal Assessment of Genomes and Exomes (PAGE) study, this paper aimed to determine the additional costs of using exome sequencing (ES) alongside or in place of chromosomal microarray (CMA) in a fetus with an identified congenital anomaly. METHODS: A decision tree was populated using data from a prospective cohort of women undergoing invasive diagnostic testing. Four testing strategies were evaluated: CMA, ES, CMA followed by ES (“stepwise”); CMA and ES combined. RESULTS: When ES is priced at GBP 2,100 (EUR 2,407/USD 2,694), performing ES alone prenatally would cost a further GBP 31,410 (EUR 36,001/USD 40,289) per additional genetic diagnosis, whereas the stepwise would cost a further GBP 24,657 (EUR 28,261/USD 31,627) per additional genetic diagnosis. When ES is priced at GBP 966 (EUR 1,107/USD 1,239), performing ES alone prenatally would cost a further GBP 11,532 (EUR 13,217/USD 14,792) per additional genetic diagnosis, whereas the stepwise would cost a further additional GBP 11,639 (EUR 13,340/USD 14,929) per additional genetic diagnosis. The sub-group analysis suggests that performing stepwise on cases indicative of multiple anomalies at ultrasound scan (USS) compared to cases indicative of a single anomaly, is more cost-effective compared to using ES alone. DISCUSSION/CONCLUSION: Performing ES alongside CMA is more cost-effective than ES alone, which can potentially lead to improvements in pregnancy management. The direct effects of test results on pregnancy outcomes were not examined; therefore, further research is recommended to examine changes on the projected incremental cost-effectiveness ratios. S. Karger AG 2020-07 2020-01-21 /pmc/articles/PMC7446299/ /pubmed/31962312 http://dx.doi.org/10.1159/000504976 Text en Copyright © 2020 by S. Karger AG, Basel http://creativecommons.org/licenses/by/4.0/ This article is licensed under the Creative Commons Attribution International License (CC BY 4.0) (http://www.karger.com/Services/OpenAccessLicense). Usage, derivative works and distribution are permitted provided that proper credit is given to the author and the original publisher.
spellingShingle Original Paper
Kodabuckus, Shahela S.
Quinlan-Jones, Elizabeth
McMullan, Dominic J.
Maher, Eamonn R.
Hurles, Matthew E.
Barton, Pelham M.
Kilby, Mark D.
Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation
title Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation
title_full Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation
title_fullStr Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation
title_full_unstemmed Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation
title_short Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation
title_sort exome sequencing for prenatal detection of genetic abnormalities in fetal ultrasound anomalies: an economic evaluation
topic Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446299/
https://www.ncbi.nlm.nih.gov/pubmed/31962312
http://dx.doi.org/10.1159/000504976
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