Maartje Blom1, Rolf H Zetterström2, Asbjørg Stray-Pedersen3, Kimberly Gilmour4, Andrew R Gennery5, Jennifer M Puck6, Mirjam van der Burg7. 1. Department of Pediatrics, Laboratory for Pediatric Immunology, Leiden University Medical Center, Leiden, The Netherlands. 2. Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. 3. Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway; Department of Pediatrics, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway. 4. University College London Great Ormond Street Institute of Child Health, London, United Kingdom; Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom; National Institute for Health Research-Great Ormond Street Hospital Biomedical Research Center, London, United Kingdom. 5. Children's Bone Marrow Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom. 6. Division of Allergy, Immunology, and Blood and Marrow Transplantation, Department of Pediatrics, University of California, San Francisco School of Medicine, San Francisco, Calif; University of California, San Francisco Benioff Children's Hospital San Francisco, San Francisco, Calif. 7. Department of Pediatrics, Laboratory for Pediatric Immunology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: m.van_der_burg@lumc.nl.
Abstract
BACKGROUND: Public health newborn screening (NBS) programs continuously evolve, taking advantage of international shared learning. NBS for severe combined immunodeficiency (SCID) has recently been introduced in many countries. However, comparison of screening outcomes has been hampered by use of disparate terminology and imprecise or variable case definitions for non-SCID conditions with T-cell lymphopenia. OBJECTIVES: This study sought to determine whether standardized screening terminology could overcome a Babylonian confusion and whether improved case definitions would promote international exchange of knowledge. METHODS: A systematic literature review highlighted the diverse terminology in SCID NBS programs internationally. While, as expected, individual screening strategies and tests were tailored to each program, we found uniform terminology to be lacking in definitions of disease targets, sensitivity, and specificity required for comparisons across programs. RESULTS: The study's recommendations reflect current evidence from literature and existing guidelines coupled with opinion of experts in public health screening and immunology. Terminologies were aligned. The distinction between actionable and nonactionable T-cell lymphopenia among non-SCID cases was clarified, the former being infants with T-cell lymphopenia who could benefit from interventions such as protection from infections, antibiotic prophylaxis, and live-attenuated vaccine avoidance. CONCLUSIONS: By bringing together the previously unconnected public health screening community and clinical immunology community, these SCID NBS deliberations bridged the gaps in language and perspective between these disciplines. This study proposes that international specialists in each disorder for which NBS is performed join forces to hone their definitions and recommend uniform registration of outcomes of NBS. Standardization of terminology will promote international exchange of knowledge and optimize each phase of NBS and follow-up care, advancing health outcomes for children worldwide.
BACKGROUND: Public health newborn screening (NBS) programs continuously evolve, taking advantage of international shared learning. NBS for severe combined immunodeficiency (SCID) has recently been introduced in many countries. However, comparison of screening outcomes has been hampered by use of disparate terminology and imprecise or variable case definitions for non-SCID conditions with T-cell lymphopenia. OBJECTIVES: This study sought to determine whether standardized screening terminology could overcome a Babylonian confusion and whether improved case definitions would promote international exchange of knowledge. METHODS: A systematic literature review highlighted the diverse terminology in SCID NBS programs internationally. While, as expected, individual screening strategies and tests were tailored to each program, we found uniform terminology to be lacking in definitions of disease targets, sensitivity, and specificity required for comparisons across programs. RESULTS: The study's recommendations reflect current evidence from literature and existing guidelines coupled with opinion of experts in public health screening and immunology. Terminologies were aligned. The distinction between actionable and nonactionable T-cell lymphopenia among non-SCID cases was clarified, the former being infants with T-cell lymphopenia who could benefit from interventions such as protection from infections, antibiotic prophylaxis, and live-attenuated vaccine avoidance. CONCLUSIONS: By bringing together the previously unconnected public health screening community and clinical immunology community, these SCID NBS deliberations bridged the gaps in language and perspective between these disciplines. This study proposes that international specialists in each disorder for which NBS is performed join forces to hone their definitions and recommend uniform registration of outcomes of NBS. Standardization of terminology will promote international exchange of knowledge and optimize each phase of NBS and follow-up care, advancing health outcomes for children worldwide.
Authors: Laura Tagliaferri; Joachim B Kunz; Margit Happich; Susanna Esposito; Thomas Bruckner; Daniel Hübschmann; Jürgen G Okun; Georg F Hoffmann; Ansgar Schulz; Judit Kappe; Carsten Speckmann; Martina U Muckenthaler; Andreas E Kulozik Journal: Clin Immunol Date: 2016-12-02 Impact factor: 3.969
Authors: Stephanie Richards; Andrew R Gennery; E Graham Davies; Melanie Wong; Peter J Shaw; Jane Peake; Chris Fraser; Paul Gray; Shannon Brothers; Jan Sinclair; Tim Prestidge; Kahn Preece; Patrick Quinn; Shanti Ramachandran; Richard Loh; Andrew McLean-Tooke; Richard Mitchell; Theresa Cole Journal: J Paediatr Child Health Date: 2020-10 Impact factor: 1.954
Authors: Beth H Vogel; Vincent Bonagura; Geoffrey A Weinberg; Mark Ballow; Jason Isabelle; Lisa DiAntonio; April Parker; Allison Young; Charlotte Cunningham-Rundles; Chin-To Fong; Jocelyn Celestin; Heather Lehman; Arye Rubinstein; Subhadra Siegel; Leonard Weiner; Carlos Saavedra-Matiz; Denise M Kay; Michele Caggana Journal: J Clin Immunol Date: 2014-03-01 Impact factor: 8.317
Authors: Ana Argudo-Ramírez; Andrea Martín-Nalda; Jose L Marín-Soria; Rosa M López-Galera; Sonia Pajares-García; Jose M González de Aledo-Castillo; Mónica Martínez-Gallo; Marina García-Prat; Roger Colobran; Jacques G Riviere; Yania Quintero; Tatiana Collado; Judit García-Villoria; Antonia Ribes; Pere Soler-Palacín Journal: Front Immunol Date: 2019-10-22 Impact factor: 7.561
Authors: Marilia Pyles P Kanegae; Lucila Akune Barreiros; Jusley Lira Sousa; Marco Antônio S Brito; Edgar Borges de Oliveira; Lara Pereira Soares; Juliana Themudo L Mazzucchelli; Débora Quiorato Fernandes; Sonia Marchezi Hadachi; Silvia Maia Holanda; Flavia Alice T M Guimarães; Maura Aparecida P V V Boacnin; Marley Aparecida L Pereira; Joaquina Maria C Bueno; Anete Sevciovic Grumach; Regina Sumiko W Di Gesu; Amélia Miyashiro N Dos Santos; Newton Bellesi; Beatriz T Costa-Carvalho; Antonio Condino-Neto Journal: Rev Paul Pediatr Date: 2017 Jan-Mar
Authors: David Bick; Arzoo Ahmed; Dasha Deen; Alessandra Ferlini; Nicolas Garnier; Dalia Kasperaviciute; Mathilde Leblond; Amanda Pichini; Augusto Rendon; Aditi Satija; Alice Tuff-Lacey; Richard H Scott Journal: Int J Neonatal Screen Date: 2022-07-15