Building a Minimal Long-Term-Follow-Up Data Set for Newborn Screening

Newborn screening (NBS) is hailed as a public health success, but little is known about what happens to these children after diagnosis. There has been difficulty gathering long-term follow-up (LTFU) data consistently, reliably, and with minimal effort by state NBS programs from clinicians. Six programs have been working towards a core minimal LTFU dataset, starting with data elements proposed by the Advisory Committee on Heritable Disorders in Newborns and Children’s Follow-up and Treatment workgroup (ACHDNC FUTR). This minimal data set could begin to address the impact of early diagnosis by NBS. After three rounds of data collection and revision to a data collection tool that defines the minimal LTFU data elements, the group agreed that it was most important for the dataset to capture two items for the denominator--diagnosis and if the child moved or died—with three outcomes: if the child was still alive, if the child had contact with a specialist, and if they received appropriate care specific to their diagnosis within the year. All six programs were able to provide these data. In 2022, about 83.8% (563/672) of the children in these LTFU programs were alive, 92.0% saw a specialist, and 87.7% received appropriate care.