Special Issue "CLIR Applications for Newborn Screening"
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: closed (31 March 2021) | Viewed by 44256
Newborn screening (NBS) is based upon laboratory tests performed on a growing proportion of ~130 million children born worldwide every year. Poor performance on a mass scale distresses a multitude of patients and exposes both families and providers to an increasing risk of psychosocial harm while incurring unnecessary expenses. Collaborative Laboratory Integrated Reports (https://clir.mayo.edu) is a second-generation web application that maintains an interactive database of newborn screening results from multiple sites. The long-term goal of CLIR though worldwide collaboration and data sharing is the creation of high-throughput post-analytical interpretive tools to improve NBS performance and achieve a near-zero false positive rate (Genet Med 2018;20:847-854).
CLIR’s defining characteristics are: (1) the replacement of conventional reference intervals with continuous, covariate-adjusted (age, birth weight, sex) moving percentiles. This type of statistical modeling requires big data, and acceptance of the concept that reference intervals could be defined by “recycling” and harmonizing several millions of normal screening test results from a multitude of sources; (2) the replacement of analyte cutoff values with an integrated scoring based on the degree of overlap between reference ranges and condition-specific disease ranges; (3) the integration of primary markers with all informative permutations of ratios. Ratios calculated between markers not directly related at the biochemical level are particularly helpful to correct for pre-analytical factors and potential analytical bias; and (4) harmonization by location is also routinely possible. Access to CLIR is freely available to qualified users worldwide who are willing to share reference data and profiles of positive cases.
This Special Issue of the International Journal of Neonatal Screening (IJNS) showcases a number of applications of CLIR tools to improve performance of primary screening, analyses of limitations and challenges, examples of the use and impact of second tier testing, and relevance to short term follow-up. It also includes an overview of the underlying IT infrastructure and an example of the user training material available online.
Dr. Piero Rinaldo
Dr. Dietrich Matern
Dr. Rolf Zetterström
Dr. Robert J. Currier
Dr. Lars Mørkrid
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