Need for Uniform Definitions in Newborn Screening for SCID: The Next Challenge for Screeners and Immunologists.

Mirjam Van Der Burg

doi:10.3390/ijns7030052

Abstract

During the ISNS meeting “Newborn Screening for SCID ‘State of the Art’” on 26 and 27 January 2021, the topic of case definitions and related issues were discussed. There is currently a lack of uniform definitions and therefore a lack of uniform registration of screen-positive cases. This severely hampers the comparison of outcomes of different screening programs and the exchange of experiences gained by the different countries performing SCID screening, which is essential to improve screening programs. In this letter, I outline the current situation and indicate the need for uniform definitions and classification, which in my view needs to be a joined effort of screeners and immunologists.

Highlights

Coming from the field of diagnostics and research on severe combined immunodeficiency, I entered the world of newborn screening several years ago
The moment I realized that the field of SCID diagnostics and research is a different world than the field of newborn screening was during a visit to the laboratory of Anne Marie Comeau in Massachusetts
She was running the SCID screening laboratory and showed me her in-house TREC assay procedure and we discussed her wish to set up KREC screening

Summary

Introduction

Coming from the field of diagnostics and research on severe combined immunodeficiency, I entered the world of newborn screening several years ago. She was running the SCID screening laboratory and showed me her in-house TREC assay procedure and we discussed her wish to set up KREC screening. I think that this difference explains the tension one can feel between population-based screening on one hand and diagnostics of a child with a clinical suspicion of SCID on the other hand It is this tension that makes it a challenge for both screeners and immunologists (clinical and laboratory) to ensure the most optimal screening program with the most optimal follow-up diagnostics in order to reach the most optimal clinical care for SCID. This challenge is identical for all screening programs, but I think SCID screening has its own unique challenges

Balance between Identification of SCID Patients and Incidental Findings

Need for Uniform Definitions and Classification

Joined Forces of Screeners and Immunologists