P385: Understanding clinician needs and preferences with respect to returned NBS results
Notice bibliographique
Résumé
text review, and 25 were included.Data on patient characteristics, GS methods, turn-around time, diagnostic rate, and change in clinical management were extracted.How clinical utility was defined and measured across publications was synthesized thematically.Guided by existing C-GUIDE items and this scoping review, a preliminary 21-item modified C-GUIDE was created.Clinicians were recruited to participate in qualitative interviews about the relevance, comprehensibility, and comprehensiveness of the modified C-GUIDE to gauge content validity and refine the preliminary list.Eligible clinicians included geneticists, neonatologists, and neurologists routinely involved in genetic testing and/or managing results in NICU settings across Canada.Interviews were conducted virtually, audio-taped, and transcribed.Item-by-item and thematic analyses enabled item refinement and further characterization of this construct of clinical utility.Results: Across 25 publications, clinical utility in this setting was most often defined as a change in clinical management following genetic testing (based on retrospective chart review), with only 7 studies utilizing clinician surveys to assess perceived utility.Across the studies, diagnostic rates of 12-60% were reported for GS and changes in management were reported in 22-100%.Seven putative domains of clinical utility for GS in NICU settings were identified, pertaining to: 1) diagnosis, differential diagnosis and work-up; 2) clinical management; 3) prognosis; 4) referrals; 5) disposition planning; 6) family planning; and 7) psychosocial impact.The role of genotype in selecting pharmaceutical, dietary, and targeted therapeutic interventions, and its contribution to discussions on redirection of care were particularly salient.To date, 14 qualitative interviews with 9 medical geneticists, 4 neonatologists, and 1 neurologist based in 4 Canadian provinces have been completed.Qualitative analysis revealed the following themes: 1) perceived clinical utility is improved across all domains with more rapid turn-around times; 2) GS can allow for cessation of a potentially invasive work-up; 3) streamlined management plans guided by prognosis can improve quality of life for neonates; 4) provision of an "answer" can improve parental understanding, strengthen decision-making, and reduce guilt; and 5) genetic information can facilitate essential social connection via identification of other families and support groups.Themes of "disutility" included: 1) potential prolongation of ICU stay while awaiting GS results; and 2) familial psychosocial harm, in general, associated with the pursuit of genetic testing.Conclusion: While the literature highlighted a high frequency of diagnosis and changes in medical management associated with GS in NICU settings, a broader definition of clinical utility is lacking with no standardized methods to capture clinical utility currently in use.Our preliminary, expert-informed, modified C-GUIDE defines clinical utility as a broad construct that contributes to diagnosis and prognosis, reduction in diagnostic work-up, clinical management, informed discussions on goals of care, disposition planning, and family psychosocial functioning.Qualitative interviews will be completed by the end of 2022, and itembased feedback will be synthesized to guide the development of a refined item list through a Delphi consensus process.Following validation, C-GUIDE NICU will be available for use.
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 | 0,002 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,001 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| 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 ».