Utah-Michigan Harmonization Study

Biochemical newborn screening (NBS) analyte results vary in absolute values due to differences in testing methodologies, instrumentation platforms, analyte extraction methodologies, internal standards, and calibration techniques. While each NBS program establishes specific population cut-off values that allow differentiation between “normal” and “presumptive positives”, the inherent variabilities make direct analyte level comparisons difficult or impossible.

Harmonization of test results for commonly performed screening assays would allow patient level comparisons amongst newborn screening programs; it would also allow the use of equivalent decision limits, the definition of common clinical guidelines across all methods and the uniform interpretation of patient results.

The Utah and Michigan NBS programs, in collaboration with the Centers for Disease Control and Prevention (CDC), aim to perform a harmonization study for amino acids, acylcarnitines, and succinylacetone. The study aims to collect data from multiple NBS programs using different testing methodologies and algorithms in a blinded study design, using common dried blood spot materials provided by the CDC for analysis. Following study completion, results will be blinded and shared with the study participants. The study results will then be subjected to peer review and publication process. It is our hope that this data will be foundational for achieving uniformity in NBS results.

The overarching goal and motivation of this study is the development of post-analytical methodologies that would allow the uniform interpretation of patient level data, a goal of upmost importance for the rare disease community.

This harmonization study will require the site to run two full plates for analysis. We are seeking a diverse selection of methodologies and are limiting the number of participants for each method.

Please respond to this email by February 2, 2022 and indicate your contact information as well as what screening platform your program uses for analysis of amino acids, acylcarnitines, and succinylacetone.

Andy Rohrwasser & Shawn Moloney

Shawn Moloney, MPH, MLS(ASCP)CM
Metabolic Unit Manager
Michigan Department of Health & Human Services

Andy Rohrwasser, PhD, MBA
Newborn Screening Director
Utah Public Health Laboratory