Date created: 2024-10-09 02:40 PM | Last Updated: 2024-10-15 11:08 AM

Category: Project

Description: Background: Newborn screening programmes across the world screen for various rare diseases in newborns, often using a newborn blood spot (NBS) test. Current research is considering use of genomic testing as a screening strategy. In the United Kingdom (UK), newborns are screened for nine rare genetic conditions using an NBS test. Whilst data on process measures (number screened, timeliness of screening, yield, etc.) confirms that the UK NBS programme is operating efficiently, the net benefit on patients and their families is less clear. There is also a lack of evidence to inform decisions regarding candidates for additions to current screening programmes. Outcomes associated with screening programmes that could be measured range from epidemiological outcomes such as incidence and prevalence to natural history outcomes tracking the course of disease, test accuracy, and clinical and educational outcomes following treatment or surveillance. Due to challenges in conducting randomised controlled trials (RCTs) for rare diseases, most studies evaluating relevant outcomes are likely to be observational, so it is important to identify appropriate methods and mechanisms that could be used to collect outcome data. To understand which methods may be most appropriate, we must first understand which methods are currently being used. Aim: To conduct a scoping review of the literature to identify methods and mechanisms used to measure and monitor outcomes from existing or candidate newborn screening programmes. Our review objectives are to summarise evidence on the following: • the study designs, their respective objectives and data sources used • the populations in which the outcomes (short term and long term) have been assessed • the outcomes included in the relevant studies, including outcomes evaluated in older children, adolescents and adults. The scoping review will form part of a two-phase project. The scoping review is the first phase which is descriptive in nature to identify the breadth of available evidence and will inform the second phase of the project. In the second phase, relevant methods and mechanisms identified in the scoping review will be evaluated. Methods: This scoping review will be structured according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). A search strategy will be developed by an experienced information specialist. The SPIDER framework (Sample, Phenomenon of Interest, Design, Evaluation, Research type) as specified by the UK National Screening Committee (NSC) will be used to determine study eligibility. Both title and abstract and full text screening will be performed by one review author and a random sample of 20% will be independently screened in duplicate by a second review author. A data extraction form will be piloted on 5 studies. Data extraction will be conducted by one author, and a random sample of 20% of data extractions will be done independently in duplicate. All results will be described narratively. Methods and mechanisms will be grouped into categories, and we will synthesise evidence based on these categories. Outcomes will be grouped thematically (epidemiological, natural history, test accuracy, clinical, educational) within each methods/mechanism category.