Abstract B025: Universal Germline Testing in Young-Onset GI Malignancies: Expanding Access for Underserved Patients
Notice bibliographique
Résumé
Abstract Purpose: Historically, indigent populations have faced significant disparities in access to germline testing for various gastrointestinal (GI) cancers. With the rising incidence of GI cancers among adults under 50, coupled with evidence that pathogenic germline variants (PGVs) in young-onset (YO) cancers can be present in over 20% of cases, there is a critical need to address barriers to genetic testing in underserved populations. This study aimed to assess the feasibility and impact of a multilevel intervention designed to optimize the implementation of universal germline testing (UGT) in a county hospital system serving a predominantly low-income population. Methods: Between March 2024 and September 2025, patients aged 50 years and younger, diagnosed with GI cancers, and receiving care at Lyndon B. Johnson Hospital in Houston, Texas, were recruited for the study. Participants were universally offered germline testing with a 48-gene multiplex panel covering major hereditary cancer predisposition syndromes, along with pre-recorded video education and standardized pretest counseling. Pre- and post-test surveys were administered to assess patient-level impacts on genetic knowledge, psychosocial factors, and stressors related to UGT. The primary outcomes included the proportion of patients with YO GI cancers who completed germline testing, compared to historical controls (previously reported completion rate: 49%), and the feasibility of implementing this universal approach. Results: Of the 64 eligible patients, 41 (64%) enrolled in the pilot study and completed germline testing. The majority of participants had colorectal cancer (48%), followed by gastro-esophageal cancers (12%). The median age at diagnosis was 42 years (range: 24-50). Spanish was the primary language spoken by 68% of participants, and 40% were diagnosed with stage IV cancer. Pathogenic germline variants (PGVs) were identified in 16% of participants, while variants of uncertain significance (VUS) were found in 42%. PGVs included BRCA2, FAP, MLH1, and ATM. Patient level impacts of the intervention on genetic knowledge, psychosocial factors, and stressors related to UGT will be reported. Conclusion: The rate of PGVs among this underserved population was notably high, with approximately 1 in 6 patients diagnosed with GI cancers at or under the age of 50 carrying a germline mutation linked to cancer. The universal approach to germline testing proved to be feasible and resulted in a higher completion rate compared to historical controls, who were offered targeted testing. This pilot demonstrates strong interest in UGT among underserved cancer patients and suggests that improving the framework for genetic testing in this context is a valuable investment for enhancing clinical outcomes and equitable access to genetic insights. Citation Format: Kaysia Ludford, Ysaith Orellana Ascencio, Hilary Ma, Yi-Qian Nancy You. Universal Germline Testing in Young-Onset GI Malignancies: Expanding Access for Underserved Patients [abstract]. In: Proceedings of the AACR Special Conference in Cancer Research: The Rise in Early-Onset Cancers—Knowledge Gaps and Research Opportunities; 2025 Dec 10-13; Montreal, QC, Canada. Philadelphia (PA): AACR; Clin Cancer Res 2025;31(23_Suppl):Abstract nr B025.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,001 | 0,003 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,001 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,002 |
| Intégrité de la recherche | 0,000 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,006 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».