Long-term Follow-up Data Collection and Use in State Newborn Screening Programs

Abstract

Objectives: To describe and analyze the types of datarelated policies and practices that currently exist among state newborn screening (NBS) programs in relation to long-term follow-up (LTFU) and oversight for newborns with confirmed disorders.Design: A 19-question online survey.Participants: Thirty-five state NBS programs. Main Outcome Measures:Whether LTFU is performed, collection and use of LTFU data, and variety of LTFU data collected.Results: Survey findings reveal data-related challenges faced by state NBS programs in their ability to perform ongoing oversight, evaluation, and quality assurance with respect to LTFU for newborns with confirmed disorders. Of the NBS programs surveyed, 56% reported collecting no LTFU data. More than two-thirds of state NBS programs surveyed do not use LTFU data at all or use it only minimally. Most programs that collect any LTFU data from providers (physicians, nurses, and allied health professionals) do it through verbal communication or paper forms rather than electronically. Almost half of the programs collecting any LTFU data do so only once a year. A lot of variety exists in the types of LTFU data collected across programs. Most of the 15 programs that reported collecting LTFU data use it to track the clinical outcomes of patients, assess the needs of patients and their families for services, and track and identify individuals lost to follow-up across time. Conclusion:The results generally point to a need for greater alignment of state NBS program data practices and policies with the data requirements for essential public health functions, such as quality assurance, program evaluation, and cost-benefit analysis.

Long-term follow-up culture in state newborn screening programs

“…In conclusion, the findings here are consistent with those reported quantitatively in other published studies of the NBS program role in LTFU 3,5,11 in that state NBS programs seem to have significant handicaps presently in their ability to play a central role in the LTFU part of the NBS system. The question emerging from this accumulating body of research is whether or not state NBS programs can evolve enough in the near future to contribute significantly to the growing national emphasis on conducting LTFU.…”

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

“…This project corroborates the conclusion of other researchers that significant data-related challenges lie ahead in improving the ability of state NDBS programs to engage in LTFU (Hoff et al 2007). It also highlights the need to develop seamless integration of clinical and public health information systems, including newborn screening, in order to improve healthcare delivery and outcome (Hinman et al 2009).…”

Quality assurance in medical and public health genetics services: A systematic review

“…In terms of public health genetic databases that are being maintained, newborn screening program and birth defects surveillance programs were the most common sources from which data were collected. In contrast, very few maintained records for children with special health care needs, results from maternal serum screening, long‐term follow‐up, cancer, or cytogenetics registries [Kirby, 2000; Murff et al, 2004; Hoff et al, 2007]. Moreover, very few states or organizations link these records to other statistics/data for program improvement or use these resources in program planning and management [Kirby, 2000].…”