Methods and mechanisms for measuring and monitoring outcomes from newborn bloodspot screening: a scoping review
Scandrett, Katie Dinnes, Jacqueline Morrison, Breanna Coombe, April Agarwal, Ridhi Asare, Isaac Adu Mead, Phoebe De Souza, Andy Elliman, David Lombardo, Silvia
Scandrett, Katie
Dinnes, Jacqueline
Morrison, Breanna
Coombe, April
Agarwal, Ridhi
Asare, Isaac Adu
Mead, Phoebe
De Souza, Andy
Elliman, David
Lombardo, Silvia
Affiliation
University of Birmingham; University Hospitals Birmingham NHS Foundation Trust; UK National Screening Committee; Great Ormond Street Hospital; University of Warwick
Other Contributors
Publication date
2026-01-21
Subject
Collections
Research Projects
Organizational Units
Journal Issue
Abstract
Background: Newborn bloodspot screening offers the potential to detect rare diseases early, enabling timely treatment that can reduce mortality and morbidity. Generating evidence for rare diseases often depends on observational data, making it challenging to formulate recommendations for new screening programmes and evaluate the effectiveness of existing ones.
Objective(s): To identify the range of methods and mechanisms used to measure and monitor outcomes from newborn screening programmes using a scoping review.
Methods: We included studies published between 2019 and 2024, which evaluated a current or candidate newborn screening programme, or which reported outcomes in screen-detected cases. Studies were categorised into four groups: group 1 reported a comparison and follow-up; group 2 reported a comparison but no follow-up; group 3 reported no comparison with follow-up; and group 4 reported no comparison or follow-up. Data were extracted from a random sample of studies within each group; studies in group 1 were prioritised. Results were reported narratively according to study group. The review was conducted and reported according to current guidance for scoping reviews.
Data sources: EMBASE (Ovid), MEDLINE (Ovid) and Science Citation Index (Web of Science - Clarivate).
Results: We included 574 primary studies and extracted data from 178. Of the 75 studies in group 1, most compared screen-detected cases with controls (74%). Studies in this group used newborn bloodspot programme databases, registries or record review to identify participants and outcomes; only six (8%) reported use of record linkage. Studies in group 2 (n = 31) mostly reported comparisons of screening tests (25, 81%). Over half of studies in group 3 (n = 34) used newborn bloodspot programme databases to identify participants (53%) and outcomes (65%). A similar pattern was seen in the group 4 (n = 38). Studies reporting follow-up typically relied on retrospective record review or were not well reported. Across all study groups, data on accuracy, epidemiology and genetic variants were common. Studies in group 1 also reported on the effectiveness of newborn bloodspot screening (32/75, 43%), treatment effectiveness (20%) or harms of newborn bloodspot screening (3%).
Limitations: Restricting data extraction to a random sample of studies risks missing novel methods or mechanisms.
Conclusions: Many studies reported test accuracy metrics and genetic variants in newborn screening. Some data on programme effectiveness were identified, but assessment of potential harms remains limited, and methods for follow-up were poorly reported. Assessment of harms, including overdiagnosis and psychological impact, is crucial to ensuring a net benefit at the population level.
Future work: In a second phase of work, an in-depth assessment of studies using different methods and mechanisms will be conducted to identify the extent to which they can provide outcome data to inform the evaluation of ongoing and candidate screening programmes.
Plain language summary
Newborn screening aims to identify babies who are likely to develop rare disease. Finding these babies early allows them to be treated quickly or to be monitored. This can improve health and save lives. Research is more difficult to do when conditions are rare. This makes it hard to decide whether new screening programmes should be introduced, or existing ones are effective. Our study explored the types of studies that have been conducted to assess newborn screening programmes. We reviewed research published between 2019 and 2024. We first looked at whether studies tried to compare results between groups of participants or tests. We then looked at whether studies followed the participants over time to measure outcomes (known as follow-up). We looked at the methods used to include participants in the studies. We also looked at the methods used to measure outcomes and what type of outcomes were measured. We report data from 178 studies. Studies identified newborns through existing screening databases, or by review of medical records. Some studies used national disease registries. A small number of studies linked more than one database together. Many studies reported how accurate screening tests were. The longer-term effects of newborn screening, such as when the babies become children and adults, were reported less often. Possible harms from an incorrect screening test result were not looked at very often. A limitation was that we were only able to document information from a subgroup of studies. This means we might have missed some unique methods. More work is needed to develop and improve the types of studies that are done. This will help us understand and explore the benefits and risks of newborn screening.
Citation
Scandrett K, Dinnes J, Morrison B, Coombe A, Agarwal R, Asare IA, Mead P, De Souza A, Elliman D, Lombardo S, Marshall J, Taylor-Phillips S, Takwoingi Y. Methods and mechanisms for measuring and monitoring outcomes from newborn bloodspot screening: a scoping review. Health Technol Assess. 2026 Jan 21:1-48. doi: 10.3310/GJJD1717. Epub ahead of print.
Type
Article