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Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress
Leire Solis1, Samya Van Coillie1, James R Bonham2
1IPOPI, BE-1050 Brussels, Belgium.
Insights
Newborn screening for primary immunodeficiencies (PIDs) is advancing, incorporating genomics and ethical considerations. This ensures early detection and treatment for rare disorders, improving public health outcomes.
Area of Science:
- Immunology
- Genetics
- Public Health
Background:
- Discusses the International Primary Immunodeficiency Congress (IPIC) session on Newborn Screening (NBS) for Primary Immunodeficiencies (PIDs).
- Highlights the role of the International Patient Organisation for Primary Immunodeficiencies (IPOPI) in advocating for PID patients.
- Focuses on severe combined immunodeficiency (SCID) screening as a starting point.
Framework:
- Explores advances in NBS for PIDs.
- Integrates genomic perspectives into screening discussions.
- Considers ethical aspects of implementing screening programs.
Implementation:
- Aims to incorporate families and the public into screening discussions.
- Focuses on the practical application and expansion of NBS programs.
- Addresses the transition from common NBS practices to broader genomic approaches.
Implications:
- Ensures NBS for treatable rare disorders remains a key public health achievement.
- Promotes early diagnosis and intervention for PIDs.
- Facilitates a comprehensive approach to newborn screening by including diverse stakeholder perspectives.
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.
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