Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and
Patricia L Hall1, Angela Wittenauer1, Arthur Hagar2
1Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.
Insights
Georgia
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Newborn screening (NBS) programs identify infants with treatable genetic disorders.
- Post-analytical tools, like Collaborative Laboratory Integrated Reports (CLIR), aid in managing abnormal NBS results.
- Triage systems prioritize follow-up for infants with confirmed conditions.
Purpose of the Study:
- To assess the retrospective performance of post-analytical tools in triaging abnormal NBS results.
- To evaluate the effectiveness of these tools in reducing confirmatory testing for common metabolic disorders.
- To determine if risk stratification accurately guides follow-up recommendations.
Main Methods:
- Retrospective analysis of NBS data from Georgia.
- Evaluation of post-analytical tools for phenylketonuria, medium chain acyl-CoA dehydrogenase deficiency, and very long chain dehydrogenase deficiency.
- Comparison of tool-assigned risk levels with actual case outcomes.
Main Results:
- Post-analytical tools correctly assigned true positive cases to higher follow-up testing levels.
- The tools successfully reduced the level of intervention for a significant number of cases.
- Abnormalities unrelated to inherited diseases were also identified.
Conclusions:
- Post-analytical tools effectively triage abnormal NBS results, improving workflow and resource allocation.
- These tools offer an advantage over multiple cutoffs for managing newborn screening variations.
- Georgia's experience supports prospective implementation for further optimization of NBS follow-up.
Abstract:
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.
