25 Genomic medicine in paediatric care for neurodevelopmental disorders: An assessment of practices, attitudes and education needs of Ontario paediatricians
Notice bibliographique
Résumé
Abstract Background Non-geneticist healthcare professionals are increasingly responsible for delivering genetics-informed care to individuals and their families affected by neurodevelopmental disorders (NDDs). Developing education tools to support their continuing education will require an understanding of physicians’ current approaches, attitudes and desired resources regarding genomic medicine, in the context of their specialty and healthcare system. Objectives Our goal was to assess paediatricians’ current practices, attitudes, and education needs regarding the provision of genomic medicine to individuals with NDDs in Ontario. Design/Methods We distributed an anonymous electronic questionnaire between April 2023 and June 2023 using online dissemination strategies. Inclusion criteria were paediatricians who self-identify as providing care to patients with NDDs. A multi-disciplinary team of genetic and non-genetic experts and a family partner developed the questionnaire. It had four sections: 1) demographic and clinical practice information, 2) experience with providing genomic medicine, 3) attitudes about providing genomic medicine, 4) education needs. Results One hundred and thirty paediatricians completed the questionnaire (estimated response rate of 10%, based on estimated 1300 Ontario paediatricians with varied practices). General paediatricians comprised 76% of responders; 50% of responders practiced outside a large urban centre. In terms of experience with genomic medicine: 58% of responders always/often discuss genetic testing options with families. Barriers to ordering genetic testing included lack of knowledge, confidence, access to lab services and time. Rates of ordering genetic testing varied by NDD and genetic test. Some paediatricians endorsed outdated testing practices (e.g., 9% order karyotype for patients with autism). Paediatricians also order genetic tests outside of standard clinical guidelines (e.g., 38% order a genetic test for patients with isolated language delay). In terms of attitudes regarding genomic medicine: majority believe that it is important to become educated about delivering genetic services to patients with NDDs. Over 60% strongly agree/agree that a genetic diagnosis may offer improved health management and research access, and about 50% strongly agree/agree that it may offer improved access to medical services and positive psychological impact for families. Commonest barriers to integrating genomic medicine in paediatric care were concerns about unanticipated genetic results, lack of local resources/logistical challenges, and competing psychosocial considerations. In terms of genetic education needs: paediatricians expressed strongest interest in learning about genetic testing (e.g. utility, interpretation, management) and advances in genomic technologies. Conclusion Ontario paediatricians integrate aspects of genomic medicine in the care of individuals with NDDs, though sometimes outside of clinically recommended contexts. They desire more support in optimizing this integration as genomic technologies and information evolve. Our study provides valuable information to guide the creation of genetic education tools to enhance collaborative healthcare for children and youth with NDDs.
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 | 0,002 | 0,008 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,001 | 0,002 |
| Études des sciences et des technologies | 0,003 | 0,001 |
| Communication savante | 0,001 | 0,001 |
| Science ouverte | 0,001 | 0,001 |
| Intégrité de la recherche | 0,000 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,003 | 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 ».