Exome sequencing for prenatal detection of genetic abnormalities in fetal ultrasound anomalies: an economic evaluation

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Exome sequencing for prenatal detection of genetic abnormalities in fetal ultrasound anomalies : an economic evaluation. / Kodabuckus, Shay; Quinlan-Jones, Elizabeth; McMullan, Dominic J. ; Maher, Eamonn R. ; Hurles, Matthew E; Barton, Pelham; Kilby, Mark.

In: Fetal Diagnosis and Therapy, 21.01.2020.

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@article{8d3e5703c52a425db9f4d483987a14c9,
title = "Exome sequencing for prenatal detection of genetic abnormalities in fetal ultrasound anomalies: an economic evaluation",
abstract = "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 £2,100 (€2,407/$2,694), performing ES alone prenatally would cost a further £31,410 (€36,001/$40,289) per additional genetic diagnosis, whereas the stepwise would cost a further £24,657 (€28,261/$31,627) per additional genetic diagnosis. When ES is priced at £966 (€1,107/$1,239), performing ES alone prenatally would cost a further £11,532 (€13,217/$14,792) per additional genetic diagnosis, whereas the stepwise would cost a further additional £11,639 (€13,340/$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 effect of test results on pregnancy outcomes were not examined; therefore, further research is recommended to examine changes on the projected ICERs.",
keywords = "Exome Sequencing, Chromosomal Microarray, Fetal Anomaly, Economic Evaluation",
author = "Shay Kodabuckus and Elizabeth Quinlan-Jones and McMullan, {Dominic J.} and Maher, {Eamonn R.} and Hurles, {Matthew E} and Pelham Barton and Mark Kilby",
year = "2020",
month = jan,
day = "21",
doi = "10.1159/000504976",
language = "English",
journal = "Fetal Diagnosis and Therapy",
issn = "1015-3837",
publisher = "Karger",

}

RIS

TY - JOUR

T1 - Exome sequencing for prenatal detection of genetic abnormalities in fetal ultrasound anomalies

T2 - an economic evaluation

AU - Kodabuckus, Shay

AU - Quinlan-Jones, Elizabeth

AU - McMullan, Dominic J.

AU - Maher, Eamonn R.

AU - Hurles, Matthew E

AU - Barton, Pelham

AU - Kilby, Mark

PY - 2020/1/21

Y1 - 2020/1/21

N2 - 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 £2,100 (€2,407/$2,694), performing ES alone prenatally would cost a further £31,410 (€36,001/$40,289) per additional genetic diagnosis, whereas the stepwise would cost a further £24,657 (€28,261/$31,627) per additional genetic diagnosis. When ES is priced at £966 (€1,107/$1,239), performing ES alone prenatally would cost a further £11,532 (€13,217/$14,792) per additional genetic diagnosis, whereas the stepwise would cost a further additional £11,639 (€13,340/$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 effect of test results on pregnancy outcomes were not examined; therefore, further research is recommended to examine changes on the projected ICERs.

AB - 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 £2,100 (€2,407/$2,694), performing ES alone prenatally would cost a further £31,410 (€36,001/$40,289) per additional genetic diagnosis, whereas the stepwise would cost a further £24,657 (€28,261/$31,627) per additional genetic diagnosis. When ES is priced at £966 (€1,107/$1,239), performing ES alone prenatally would cost a further £11,532 (€13,217/$14,792) per additional genetic diagnosis, whereas the stepwise would cost a further additional £11,639 (€13,340/$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 effect of test results on pregnancy outcomes were not examined; therefore, further research is recommended to examine changes on the projected ICERs.

KW - Exome Sequencing

KW - Chromosomal Microarray

KW - Fetal Anomaly

KW - Economic Evaluation

U2 - 10.1159/000504976

DO - 10.1159/000504976

M3 - Article

JO - Fetal Diagnosis and Therapy

JF - Fetal Diagnosis and Therapy

SN - 1015-3837

M1 - 504976

ER -