Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement
Georgia uses post-analytical tools through Collaborative Laboratory Integrated Reports (CLIR) to triage abnormal newborn screening (NBS) results for follow-up. Condition specific tools are used to assign each case a risk level, which is used to guide follow-up recommendations. Follow-up recommendati...
Main Authors: | , , |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-03-01
|
Series: | International Journal of Neonatal Screening |
Subjects: | |
Online Access: | https://www.mdpi.com/2409-515X/6/1/20 |
id |
doaj-d698d7119b8c4cf783887f1dc1096223 |
---|---|
record_format |
Article |
spelling |
doaj-d698d7119b8c4cf783887f1dc10962232020-11-25T01:54:14ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2020-03-01612010.3390/ijns6010020ijns6010020Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance ImprovementPatricia L. Hall0Angela Wittenauer1Arthur Hagar2Department of Human Genetics, Emory University, Atlanta, GA 30322, USADepartment of Human Genetics, Emory University, Atlanta, GA 30322, USAGeorgia Department of Public Health, Atlanta, GA 30303, USAGeorgia uses post-analytical tools through Collaborative Laboratory Integrated Reports (CLIR) to triage abnormal newborn screening (NBS) results for follow-up. Condition specific tools are used to assign each case a risk level, which is used to guide follow-up recommendations. Follow-up recommendations include assessment by the child’s primary care provider as well as testing, either a repeat NBS or confirmatory testing. Triaging abnormal cases using these tools has been advantageous in managing the workflow for the follow-up team, as well as prioritizing cases that appropriately require more attention and resources. The initial goal in utilizing these tools was to reduce the amount of confirmatory testing, particularly for disorders where there are many false positives. We assessed the performance of these tools retrospectively for three of the most commonly detected conditions by tandem mass spectrometry in Georgia: phenylketonuria, medium chain acyl-CoA dehydrogenase deficiency and very long chain dehydrogenase deficiency. The post-analytical tools appropriately assigned all true positive cases to the higher levels of follow-up testing and reduced the level of intervention for a significant number of cases as well. Based on the experience gained from our utilization of the tools in the follow-up program, we are well situated to move forward with using the tools in a more prospective manner, and reduce the number of cases that will be reported, rather than just assigning resources appropriately at follow-up. Post-analytical tools are an improvement over trying to capture the variation in the newborn population using multiple cutoffs. It also easily identifies significant abnormalities that are unrelated to inherited disease, such as large amino acid elevations due to total parenteral nutrition.https://www.mdpi.com/2409-515X/6/1/20newborn screeningnewborn screening follow-uppost-analytical toolsperformance improvement |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Patricia L. Hall Angela Wittenauer Arthur Hagar |
spellingShingle |
Patricia L. Hall Angela Wittenauer Arthur Hagar Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement International Journal of Neonatal Screening newborn screening newborn screening follow-up post-analytical tools performance improvement |
author_facet |
Patricia L. Hall Angela Wittenauer Arthur Hagar |
author_sort |
Patricia L. Hall |
title |
Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement |
title_short |
Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement |
title_full |
Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement |
title_fullStr |
Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement |
title_full_unstemmed |
Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement |
title_sort |
post-analytical tools for the triage of newborn screening results in follow-up can reduce confirmatory testing and guide performance improvement |
publisher |
MDPI AG |
series |
International Journal of Neonatal Screening |
issn |
2409-515X |
publishDate |
2020-03-01 |
description |
Georgia uses post-analytical tools through Collaborative Laboratory Integrated Reports (CLIR) to triage abnormal newborn screening (NBS) results for follow-up. Condition specific tools are used to assign each case a risk level, which is used to guide follow-up recommendations. Follow-up recommendations include assessment by the child’s primary care provider as well as testing, either a repeat NBS or confirmatory testing. Triaging abnormal cases using these tools has been advantageous in managing the workflow for the follow-up team, as well as prioritizing cases that appropriately require more attention and resources. The initial goal in utilizing these tools was to reduce the amount of confirmatory testing, particularly for disorders where there are many false positives. We assessed the performance of these tools retrospectively for three of the most commonly detected conditions by tandem mass spectrometry in Georgia: phenylketonuria, medium chain acyl-CoA dehydrogenase deficiency and very long chain dehydrogenase deficiency. The post-analytical tools appropriately assigned all true positive cases to the higher levels of follow-up testing and reduced the level of intervention for a significant number of cases as well. Based on the experience gained from our utilization of the tools in the follow-up program, we are well situated to move forward with using the tools in a more prospective manner, and reduce the number of cases that will be reported, rather than just assigning resources appropriately at follow-up. Post-analytical tools are an improvement over trying to capture the variation in the newborn population using multiple cutoffs. It also easily identifies significant abnormalities that are unrelated to inherited disease, such as large amino acid elevations due to total parenteral nutrition. |
topic |
newborn screening newborn screening follow-up post-analytical tools performance improvement |
url |
https://www.mdpi.com/2409-515X/6/1/20 |
work_keys_str_mv |
AT patricialhall postanalyticaltoolsforthetriageofnewbornscreeningresultsinfollowupcanreduceconfirmatorytestingandguideperformanceimprovement AT angelawittenauer postanalyticaltoolsforthetriageofnewbornscreeningresultsinfollowupcanreduceconfirmatorytestingandguideperformanceimprovement AT arthurhagar postanalyticaltoolsforthetriageofnewbornscreeningresultsinfollowupcanreduceconfirmatorytestingandguideperformanceimprovement |
_version_ |
1724988507704786944 |