Common language for screeners and immunologists in severe combined immunodeficiency newborn screening
Published: September 16, 2021
Newborn screening for severe combined immunodeficiencies (SCID) has been introduced in many newborn screening programs worldwide. SCID is the most profound type of inborn error of immunity, and the first to be accepted for population-based screening. SCID screening provides important clinical benefits for affected children, because it allows prompt clinical intervention with hematopoietic stem cell transplantation (HSCT) or gene therapy, preventing morbidity and early mortality. However, international exchange of knowledge is currently hampered by the lack of a universal language to describe screening outcomes, which hampers international exchange of knowledge. Thus, there is a need for adoption of homogeneous terms with agreed-upon meaning to allow for comparisons and collaborations between SCID newborn screening programs worldwide.
As reported by Blom et al. in The Journal of Allergy and Clinical Immunology (JACI) public health screening and clinical immunology experts were brought together to define those terms. Based on a systematic review of terminology and case definitions in the SCID newborn screening literature and pilot study guidelines, the authors formulated consensus-based recommendations.
The systematic review highlighted the diversity of terminology used in newborn screening programs. Even the terms positive and negative were ambiguously used in different programs, and classification of diagnostic outcomes after an abnormal screening result was divergent. The authors formulated definitions for both screening terminology and classification of diagnostic outcomes and gave recommendations for uniform definitions, which reflect currently available evidence coupled with expert opinion. A limitation of this study is that the expert opinion may not reflect the entire screening and clinical immunology communities. Therefore, it was written as a recommendation, with the goal to open the discussion and invite professionals to further tune the proposed terms if necessary.
The discussions of SCID newborn screening in this paper united newborn screening experts and immunologists, bridging the gaps in language and perspectives between these disciplines. It might be challenging to implement the recommendations into existing programs, therefore programs and practitioners involved with newborn screening for SCID can use their own definitions in their local practice, but implementation of uniform terminology will be required for international registration and reporting of screening outcomes in publications. Only then will international shared learning be able to expedite effective implementation of SCID newborn screening in all countries and, by analyzing outcomes with uniformly agreed upon terms, improve the screening process and follow-up care, resulting in better health outcomes for children worldwide.
The Journal of Allergy and Clinical Immunology (JACI) is an official scientific journal of the AAAAI, and is the most-cited journal in the field of allergy and clinical immunology.
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