Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress

Leire Solis; Samya Van Coillie; James R Bonham; Fabian Hauck; Lennart Hammarström; Frank J T Staal; Bruce Lim; Martine Pergent; Johan Prévot

doi:10.3390/ijns10020030

Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress

Int J Neonatal Screen. 2024 Apr 5;10(2):30. doi: 10.3390/ijns10020030.

Authors

Leire Solis¹, Samya Van Coillie¹, James R Bonham², Fabian Hauck³, Lennart Hammarström⁴, Frank J T Staal⁵, Bruce Lim¹, Martine Pergent¹, Johan Prévot¹

Affiliations

¹ IPOPI, BE-1050 Brussels, Belgium.
² International Society of Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The Netherlands.
³ Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, DE-80337 Munich, Germany.
⁴ Department of Medical Biophysics and Biochemistry, Karolinska Instituet, SE-17177 Stockholm, Sweden.
⁵ Departments of Immunology and Pediatrics, Leiden University Medical School, 2300 RC Leiden, The Netherlands.

Abstract

This article presents the report of the session on "Newborn Screening for Primary Immunodeficiencies-Now What?" organised during the International Primary Immunodeficiency Congress (IPIC) held in November 2023. This clinical conference was organised by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), the global patient organisation advocating for primary immunodeficiencies (PIDs) in patients. The session aimed at exploring the advances in newborn screening (NBS) for severe combined immunodeficiency, starting with the common practice and inserting the discussion into the wider perspective of genomics whilst taking into consideration the ethical aspects of screening as well as incorporating families and the public into the discussions, so as to ensure that NBS for treatable rare disorders continues to be one of the major public health advances of the 20th century.

Keywords: newborn screening; population screening; rare disorders; severe combined immunodeficiency (SCID).

Publication types

Congress

Grants and funding

No specific funding was received for this article. The International Primary Immunodeficiency Congress (IPIC) received funding from the following sponsors: Octapharma, Takeda, AstraZeneca, CSL Behring, Kedrion Biopharma, Pharming, Grifols, Sumitomo Pharma, X4 Pharmaceuticals, Cane Medical Technology, Chiesi, BD, Binding Site, Biomérieux, BSD, IHS, ImmunoIVD, Revvity, Koru, and FDE-So Connect.