P383: The clinician-reported genetic testing utility InDEx in the NICU (C-GUIDETM-NICU): Quantifying genome-wide sequencing utility in neonatal critical care
Notice bibliographique
Résumé
Introduction: Genomic sequencing (GS) is increasingly used in multiple specialties as part of routine medical care.GS can generate thousands of variants for each patient undergoing testing, many of which are reclassified over time.This can have clinical implications, and some patients may expect to be recontacted with updated results.Recontact has a significant impact on healthcare system resources and patients.Thus, effective and practical methods are needed to support the return of results, as this need will continue to rise as the use of GS expands.Digital platforms offer feasible and scalable solutions to deliver updates, yet there is no platform to support recontact and return of results for patients in genetics.We describe the perspectives of genetics professionals about variant reclassification, patient recontact and the use of digital portals for recontacting patients.Methods: We are conducting semi-structured interviews with 30-40 genetics professionals involved in genetic testing and/or GS.The interviews explore the following topics: 1) current practices regarding patient recontact; 2) opinions and recommendations regarding variant reclassification; 3) opinions on the use of patient portals to return updated results; and 4) perceived barriers and facilitators to patient recontact and portal implementation.Data will be analyzed using an interpretive description approach.Preliminary findings are presented below.Results: We have interviewed 17 participants to date (9 genetic counselors, 4 medical geneticists, and 4 laboratory geneticists).Participants are favorable to integrating a patient portal in their practice because it could facilitate patient engagement, but they also caution about the potential risks and implementation challenges.Participants identified patient recontact as an important issue that extends beyond updated results communication.They report currently managing patient recontact on a case-by-case basis, and indicated that this approach could become unmanageable as the number of patients receiving GS increases.Participants expressed that digital tools will be an indispensable part of improving the efficiency of clinical genetics services delivery in the future.They considered digital tools to be underutilized, but emphasized the importance of using them in a way that ensures quality of care.Participants indicated that digital tools could facilitate patients' and providers' ability to communicate with one another, by allowing clinicians to connect with patients more efficiently, engaging patients in the recontact process, enabling clinicians to receive updated patient information and providing general education.Despite these potential advantages described by participants, they also cautioned about potential risks associated with digital tools.Specifically, they discussed the potential for patients to misinterpret results and misunderstand the impact on clinical management, and they were concerned about potentially widening disparities in access to genetics services.Study participants pointed out that certain specialties or clinical situations may be better suited to returning results through a portal with minimal clinician involvement (ie, cancer genetics and/or result with minimal impact on management) while others would require more patient support (ie, pediatric rare diseases).Finally, participants identified potential barriers to patient portals implementation that mainly stemmed from current institutional policies and inefficiencies of information technology (IT) infrastructures.They anticipated that the complex and changing nature of IT systems, as well as their lack of interoperability might hinder the development of a portal compatible with multiple settings, and that competing priorities and privacy concerns could impede widespread adoption.Conclusion: Genetics professionals view patient recontact as an important issue that could be improved by better exploiting digital tools.There is willingness to consider integration of these tools to complement clinical workflows, and anticipated system-based challenges to implementation.These findings are important considering the increasing demand for clinical genetics services, and will inform the development of a patient portal to return updated genomic results to patients who had GS.
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 distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,003 | 0,004 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,002 | 0,001 |
| Intégrité de la recherche | 0,000 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 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 tête enseignante, 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 ».