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 December 2019).

Special Issue Editors

Dr. Piero Rinaldo
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Guest Editor
Department Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA
Dr. Dietrich Matern
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Guest Editor
Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, MN 55905, USA
Dr. Rolf Zetterström
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Guest Editor
Center for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden
Dr. Robert J. Currier
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Guest Editor
Department of Pediatrics, University of California, San Francisco and Benioff Children’s Hospital, San Francisco, CA 94158, USA
Dr. Lars Mørkrid
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Guest Editor
Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway

Special Issue Information

Dear Colleagues,

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
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers

There is no accepted submissions to this special issue at this moment.
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