Ethical and Clinical Boundaries in Genomics & Newborn Screening: A Brief Report from IPIC2025

The Ethics Session of the International Primary Immunodeficiency Congress (IPIC), held in November 2025 and organised by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), examined one of the most challenging developments emerging from genomic-enhanced newborn screening: the identification of serious, non-treatable disorders as incidental detection in programmes originally designed to detect severe combined immunodeficiency (SCID). Using a fictionalised clinical scenario based on the recent literature, the session explored the early diagnosis of ataxia–telangiectasia (AT) detected through TREC-based screening. The discussion highlighted the clinical value and psychological risks associated with presymptomatic detection, the persistent shortcomings in parental consent processes, the systemic pressures created by expanding genomic testing, and the ethical challenges surrounding the reporting and management of incidental findings in screening. The debate underscored the need for internationally coordinated frameworks to guide the management of incidental detection in newborn screening as genomic technologies become more deeply embedded in routine public health practice.

Authors

Institutions

Publication Details

Journal
International Journal of Neonatal Screening
Published
2026-06-18
DOI
https://doi.org/10.3390/ijns12020043
Primary Topic
Immunodeficiency and Autoimmune Disorders
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Ethical and Clinical Boundaries in Genomics & Newborn Screening: A Brief Report from IPIC2025

Raquel Yahyaoui, Adli Ali, Lúcia Mamede, Věra Franková et al.
International Journal of Neonatal Screening
Immunodeficiency and Autoimmune Disorders
article

Ethical and Clinical Boundaries in Genomics & Newborn Screening: A Brief Report from IPIC2025

Raquel Yahyaoui, Adli Ali, Lúcia Mamede, Věra Franková, Martine Pergent, Martin Zach, Roberta Anido de Peña, J Prévot, James Taylor, Rosalind Fisher, Elizabeth Rivers, Claire Booth
article en

Abstract

The Ethics Session of the International Primary Immunodeficiency Congress (IPIC), held in November 2025 and organised by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), examined one of the most challenging developments emerging from genomic-enhanced newborn screening: the identification of serious, non-treatable disorders as incidental detection in programmes originally designed to detect severe combined immunodeficiency (SCID). Using a fictionalised clinical scenario based on the recent literature, the session explored the early diagnosis of ataxia–telangiectasia (AT) detected through TREC-based screening. The discussion highlighted the clinical value and psychological risks associated with presymptomatic detection, the persistent shortcomings in parental consent processes, the systemic pressures created by expanding genomic testing, and the ethical challenges surrounding the reporting and management of incidental findings in screening. The debate underscored the need for internationally coordinated frameworks to guide the management of incidental detection in newborn screening as genomic technologies become more deeply embedded in routine public health practice.

International Journal of Neonatal ScreeningVol. 12(2)
Charles University (CZ), Hospital Kuala Lumpur (MY), Great Ormond Street Hospital (GB), Great Ormond Street Hospital for Children NHS Foundation Trust (GB), University Kebangsaan Malaysia Medical Centre (MY), Wallonie-Bruxelles International (BE), Institute of Philosophy of the Slovak Academy of Sciences (SK), Czech Academy of Sciences, Institute of Sociology (CZ), Czech Academy of Sciences, Institute of Philosophy (CZ), Hospital Regional Universitario de Málaga (ES), Oxford University Hospitals NHS Trust (GB), Instituto de Investigación Biomédica de Málaga (ES), University College London (GB), The College of New Jersey (US), Universidad de Málaga (ES), National University of Malaysia (MY)
Openalex Percentile: Top 9%
Immunodeficiency and Autoimmune Disorders
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.