Scoping review: Genetic/ genomic counselling considerations with genetic testing in NICUs and PICUs
Notice bibliographique
Résumé
Genetic and genomic technologies can effectively diagnose multiple genetic disorders. Guidelines recommend genetic counselling accompany genetic testing. Yet, there is a gap in knowledge regarding the genetic counselling considerations with genetic testing in the NICU and PICU. This scoping review will be conducted to identify the gaps in care and understand which areas are in need to be improve clinical care for patients, parents, and healthcare providers. The aim of this scoping review is to provide an overview of published, peer-reviewed, and other literature on the genetic/genomic counselling considerations with genetic testing of critically ill infants in neonatal intensive care units (NICUs) and patients in paediatric intensive care units (PICUs). The objective is to determine the gaps in care with respect to genetic counselling for infants undergoing genetic and genomic testing with considerations of parents and healthcare providers.Studies that include/cover/review/analyze the genetic counselling process in NICUs and/or PICUs using any genetic testing tool (for example: genome, exome, whole genome, whole exome sequencing, chromosomal microarray analysis, and multigene panels). The studies will be limited to English language only due to the resources available to the research team. We acknowledge potential bias this may introduce. Publication type will include both peer-reviewed journal articles and targeted grey literature. The included articles will consider critically ill newborns who are patients in the NICU. PICU was added since infants with heart defects are transferred to the PICU in British Columbia, Canada. Articles that include other groups, such as parents and health care providers, who are involved in genetic/ genomic counselling in NICU and PICU, will also be included. The study design will not be restricted in an attempt to map the literature and identify knowledge gaps in these care settings. This scoping review will follow the format outlined by the Preferred Reporting Items for Systematic Reviews and Meta-analyses extension for Scoping Reviews (PRISMA_Scr) guidelines. The databases, which include MEDLINE (Ovid), Embase (Ovid), PsycINFO (Ebsco), Cochrane Central Register of Controlled Trials, and CINHAL (Ebsco), will be searched using a prescribed search strategy created with the assistance of a research librarian. Articles that meet the inclusion criteria will be included and analyzed as they related to the research question. The identified sources will initially be screened (titles and abstracts) by two independent reviewers. Sources that are duplicates or do not conform to the inclusion criteria will be excluded at the initial stage. The second screening will be conducted using full-text studies by the same two independent reviewers to analyse the inclusion of studies.
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 | 0,000 | 0,000 |
| 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 | 0,001 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,001 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,002 | 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 ».