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A Systematic Process to Accurately Link Large-Scale Research Consents to State Public Health Newborn Screening
Emily Cheves1, Hannah E Frawley1, Angela You Gwaltney1
1RTI International, Genomics and Translational Research Center, Research Triangle Park, 3040 East Cornwallis Road, Durham, NC 27713, USA.
International Journal of Neonatal Screening
|April 24, 2026
Summary
Genomic newborn screening (gNBS) research requires linking consent forms to blood samples. A combined fuzzy matching and decision tree approach accurately linked 98.6% of samples, ensuring data integrity in public health research.
Area of Science:
- Genomics
- Public Health
- Bioinformatics
Background:
- Genomic newborn screening (gNBS) research necessitates robust methods for linking parental consent to newborn screening (NBS) specimens.
- Protecting sensitive participant data is paramount while facilitating research innovation.
- The Early Check program in North Carolina utilizes residual dried bloodspot (DBS) samples for gNBS research.
Purpose of the Study:
- To develop and evaluate a systematic approach for accurately matching parental consents with NBS DBS samples in a gNBS research program.
- To ensure the integrity of data linkage for newborns participating in the Early Check study.
- To assess the feasibility of using probabilistic matching and decision trees for sample identification.
Main Methods:
- Implemented a systematic approach combining a fuzzy matching algorithm with a decision tree for manual review of potential matches.
- Utilized residual dried bloodspot (DBS) samples from the North Carolina State Laboratory of Public Health (NCSLPH).
- Analyzed discrepancies between consent forms and NBS DBS samples, including name, infant sex, and contact details.
Main Results:
- Over a defined period, 4279 newborns' consents were received, with 614 (14%) requiring further review due to discrepancies.
- Manual review and outreach were necessary for 349 (57%) of these discrepancies.
- The combined method successfully identified samples from consented participants with high accuracy.
Conclusions:
- A systematic approach using probabilistic matching, a decision tree, and structured staff review is a feasible and accurate method for linking research consents to NBS DBS samples.
- This methodology supports the ethical and efficient conduct of genomic newborn screening research.
- The Early Check program demonstrates a successful model for data linkage in public health research initiatives.
