Jeffrey's Insights: Next-generation sequencing for primary immunodeficiency diagnosis, 2019-2025.
4 affiliations
- 1Jeffrey Modell Foundation , New York, NY, USA.
- 2Veritas Intercontinental , Madrid, Spain.
- 3Labcorp (formerly Invitae) , San Francisco, CA, USA.
- 4Children's Hospital of Philadelphia , Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Abstract
Primary immunodeficiencies (PI), or inborn errors of immunity (IEI), are a clinically heterogeneous group of more than 550 monogenic disorders for which early molecular diagnosis is essential to guide management and improve outcomes. To address global barriers to genetic testing, the Jeffrey Modell Foundation implemented Jeffrey's Insights, a no-cost next-generation sequencing (NGS) program delivered through the global Jeffrey Modell Centers Network. From 2019 to 2025, 5,991 patients across 59 countries underwent NGS testing, resulting in a molecular diagnostic yield of 22.7%. Molecular diagnostic yields were highest in Australia and New Zealand (40.9%), Asia (31.6%), and the Middle East and Africa (31.3%). Among 1,482 patients with clinician-reported follow-up, NGS altered diagnosis (38.1%), management (37.0%), treatment (32.8%), and genetic counseling (50.6%), and improved clinical outcomes (31.3%). Physicians reported on healthcare utilization and barriers to care prior to testing. These findings underscore the value of NGS as an available first-tier test for suspected PI and highlight the need for broader global access to genomic diagnostics.
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BibTeX
@article{quinn2026jeffreys,
title = {{Jeffrey's Insights: Next-generation sequencing for primary immunodeficiency diagnosis, 2019-2025.}},
author = {Jessica Quinn and Enrique Fernández-Tabanera and Irene Perea-Romero and Miriam Leon-Otegui and María Moreno-Coca and Bibiana Palao and Luis Izquierdo and Vincenzo Cirigliano and Yi-Lee Ting and Larissa Albright and Vanessa Tenembaum and Ron Gladue and Jordan S Orange and Fred Modell},
journal = {Journal of human immunity},
year = {2026},
month = oct,
doi = {10.70962/jhi.20250192},
url = {https://europepmc.org/article/MED/42900003},
note = {CC BY},
}
RIS
TY - JOUR
TI - Jeffrey's Insights: Next-generation sequencing for primary immunodeficiency diagnosis, 2019-2025.
AU - Jessica Quinn
AU - Enrique Fernández-Tabanera
AU - Irene Perea-Romero
AU - Miriam Leon-Otegui
AU - María Moreno-Coca
AU - Bibiana Palao
AU - Luis Izquierdo
AU - Vincenzo Cirigliano
AU - Yi-Lee Ting
AU - Larissa Albright
AU - Vanessa Tenembaum
AU - Ron Gladue
AU - Jordan S Orange
AU - Fred Modell
PY - 2026
DA - 2026/10/20
JO - Journal of human immunity
DO - 10.70962/jhi.20250192
UR - https://europepmc.org/article/MED/42900003
AB - Primary immunodeficiencies (PI), or inborn errors of immunity (IEI), are a clinically heterogeneous group of more than 550 monogenic disorders for which early molecular diagnosis is essential to guide management and improve outcomes. To address global barriers to genetic testing, the Jeffrey Modell Foundation implemented Jeffrey's Insights, a no-cost next-generation sequencing (NGS) program delivered through the global Jeffrey Modell Centers Network. From 2019 to 2025, 5,991 patients across 59 countries underwent NGS testing, resulting in a molecular diagnostic yield of 22.7%. Molecular diagnostic yields were highest in Australia and New Zealand (40.9%), Asia (31.6%), and the Middle East and Africa (31.3%). Among 1,482 patients with clinician-reported follow-up, NGS altered diagnosis (38.1%), management (37.0%), treatment (32.8%), and genetic counseling (50.6%), and improved clinical outcomes (31.3%). Physicians reported on healthcare utilization and barriers to care prior to testing. These findings underscore the value of NGS as an available first-tier test for suspected PI and highlight the need for broader global access to genomic diagnostics.
SN - 3065-8993
ER -