Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada
28 août 2026 mis à jour par: Robin Hayeems, The Hospital for Sick Children
Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada: Protocol for a Province-wide Hybrid Type 2 Implementation-effectiveness Trial
Genomic sequencing (GS) is increasingly recommended as a diagnostic test for patients with suspected genetic disorders, but access often remains limited to those referred to medical geneticists.
Enabling non-geneticist clinicians to access GS can expedite diagnoses for affected families and reduce burdens on the geneticist-led model of care.
Targeted implementation strategies are needed to empower non-geneticist clinicians to access GS, however data to inform these strategies are lacking.
To this end, the investigators have set out to carry out a prospective, hybrid implementation-effectiveness trial of mainstreamed clinical GWS in Ontario, Canada.
The study team will evaluate the laboratory, clinical, patient and implementation outcomes of the mainstreamed model of care.
Aperçu de l'étude
Statut
Pas encore de recrutement
Les conditions
Intervention / Traitement
Type d'étude
Observationnel
Inscription (Estimé)
100
Contacts et emplacements
Cette section fournit les coordonnées de ceux qui mènent l'étude et des informations sur le lieu où cette étude est menée.
Coordonnées de l'étude
- Nom: Erin Hsue, HBSc, MHSc
- Numéro de téléphone: 414638 416-813-7654
- E-mail: grip.study@sickkids.ca
Critères de participation
Les chercheurs recherchent des personnes qui correspondent à une certaine description, appelée critères d'éligibilité. Certains exemples de ces critères sont l'état de santé général d'une personne ou des traitements antérieurs.
Critère d'éligibilité
Âges éligibles pour étudier
- Enfant
- Adulte
- Adulte plus âgé
Accepte les volontaires sains
Non
Méthode d'échantillonnage
Échantillon non probabiliste
Population étudiée
All patients who have received genome-wide sequencing in Ontario
La description
For intervention outcomes,
- All patients who have received genome-wide sequencing in Ontario are eligible
For implementation outcomes,
- All non-geneticist clinicians practicing in Ontario who have ordered genome-wide sequencing for their patients are eligible
- Caregivers of patients who have had genome-wide sequencing through a non-geneticist clinician in Ontario are eligible, caregivers must be over 18 years of age
Plan d'étude
Cette section fournit des détails sur le plan d'étude, y compris la façon dont l'étude est conçue et ce que l'étude mesure.
Comment l'étude est-elle conçue ?
Détails de conception
Cohortes et interventions
Groupe / Cohorte |
Intervention / Traitement |
|---|---|
|
Standard Arm
Patients receiving GWS through geneticists in Ontario
|
Delivery of genome-wide sequencing (encompasses all activities involved in pre-test and post-test including clinical assessment, ordering, consent, education, return of results, post-test management)
|
|
Intervention Arm 1
Patients receiving GWS through non-geneticists in Ontario
|
Delivery of genome-wide sequencing (encompasses all activities involved in pre-test and post-test including clinical assessment, ordering, consent, education, return of results, post-test management)
|
|
Intervention Arm 2
Patients receiving GWS through non-geneticist clinicians at designated sites in Ontario with additional implementation strategies
|
Delivery of genome-wide sequencing (encompasses all activities involved in pre-test and post-test including clinical assessment, ordering, consent, education, return of results, post-test management)
|
Que mesure l'étude ?
Principaux critères de jugement
Mesure des résultats |
Description de la mesure |
Délai |
|---|---|---|
|
Diagnostic utility
Délai: From January 2025 to August 2027
|
The proportion of causative, pathogenic or likely pathogenic genotypes in known disease genes.
This will be reported as the proportion of cases for whom diagnostic and partially diagnostic, and non-optional medically actionable secondary findings are identified at the time of primary analysis and re-analysis.
Proportion of cases for whom optional medically actionable secondary findings will also be reported, relative to the number of cases who opted to receive them.
|
From January 2025 to August 2027
|
Mesures de résultats secondaires
Mesure des résultats |
Description de la mesure |
Délai |
|---|---|---|
|
Acceptability
Délai: 12 months from enrolment
|
Satisfaction with Genome-wide Sequencing Ontario (GSO) intervention and implementation among ordering providers (geneticists and non-geneticists), GSO leadership, laboratory, patients and families.
This outcome will be measured using a team-developed questionnaire with a 5-point Likert scale with 1 indicating strongly disagree and 5 indicating strongly agree.
|
12 months from enrolment
|
|
Feasibility
Délai: 12 months from enrolment
|
Fit and suitability for regular use by ordering providers.
This outcome will be measured using a team-developed questionnaire with a 5-point Likert scale with 1 indicating strongly disagree and 5 indicating strongly agree.
|
12 months from enrolment
|
|
Sustainability
Délai: 12 months from enrolment
|
Sustainability is defined as the extent to which the Genome-wide Sequencing Ontario (GSO) service can be maintained within a clinical practice.
This outcome will be measured using a team-developed questionnaire with a 5-point Likert scale with 1 indicating strongly disagree and 5 indicating strongly agree.
|
12 months from enrolment
|
|
Timeliness
Délai: From January 1, 2025 to August 31, 2027
|
Timeliness is defined as the time needed to reach a molecular diagnosis.
For routine cases, this will be reported as the proportion of cases for whom laboratory turnaround time is less than 12 weeks.
From a laboratory perspective timeliness will be measured as the number of weeks elapsed from sample accessioning to laboratory reporting, reported as the proportion of cases for whom laboratory turnaround time is less than 12 weeks.
The study team will also assess timeliness from the patient perspective using a patient experience questionnaire that addresses this dimension of care.
|
From January 1, 2025 to August 31, 2027
|
|
Cost-effectiveness
Délai: From January 1, 2025 to August 31, 2027
|
The cost per case of community-based genetic service delivery will be measured.
This will include sessions with physicians and genetic counselors and laboratory sequencing costs.
Laboratory costs will be determined by updating existing microcost estimates of the laboratory workflow components for sequencing approaches.
If a comparative design is possible, a cost analysis will compare service delivery cost for non-geneticist clinicians compare to geneticist clinicians.
|
From January 1, 2025 to August 31, 2027
|
|
Adoption
Délai: From January 1, 2025 to August 31, 2027
|
Adoption is defined as the total number of non-geneticist clinicians ordering Genome-wide Sequencing Ontario (GSO) for their patients, and total number of submitted cases per clinician, assessed through the GSO REDCap database.
|
From January 1, 2025 to August 31, 2027
|
|
Fidelity
Délai: From January 1, 2025 to August 31, 2027
|
Fidelity is defined as adherence to the Genome-wide Sequencing Ontario (GSO) workflow (including form completion, use of appeal process), measured by time (in days) between when the GSO order is accessioned in the lab and when the order is processed and sent for sequencing.
|
From January 1, 2025 to August 31, 2027
|
|
Penetration
Délai: From January 1, 2025 to August 31, 2027
|
Penetration is defined as the degree of integration within a service delivery system (i.e., proportion of eligible clinicians who offer genome-wide sequencing (GWS)).
This outcome will be measured by iteratively assessing the rate of requests for GWS based on total eligible clinicians.
This outcome will be reported based on practice characteristics of the requesting clinician (specialty, geography, years in practice, etc.).
|
From January 1, 2025 to August 31, 2027
|
|
Acceptability (to patients/families)
Délai: From enrolment to August 31, 2027
|
Acceptability (to patients/families) is defined as the experiences of patients or their family members during their participation in the mainstreamed model of care.
This outcome will be measured using a team-developed questionnaire with a 5-point Likert scale with 1 indicating strongly disagree and 5 indicating strongly agree.
|
From enrolment to August 31, 2027
|
Collaborateurs et enquêteurs
C'est ici que vous trouverez les personnes et les organisations impliquées dans cette étude.
Parrainer
Les enquêteurs
- Chercheur principal: Robin Z Hayeems, ScM, PhD, The Hospital for Sick Children
Dates d'enregistrement des études
Ces dates suivent la progression des dossiers d'étude et des soumissions de résultats sommaires à ClinicalTrials.gov. Les dossiers d'étude et les résultats rapportés sont examinés par la Bibliothèque nationale de médecine (NLM) pour s'assurer qu'ils répondent à des normes de contrôle de qualité spécifiques avant d'être publiés sur le site Web public.
Dates principales de l'étude
Début de l'étude (Estimé)
1 septembre 2026
Achèvement primaire (Estimé)
31 août 2027
Achèvement de l'étude (Estimé)
31 août 2027
Dates d'inscription aux études
Première soumission
18 août 2026
Première soumission répondant aux critères de contrôle qualité
28 août 2026
Première publication (Réel)
2 septembre 2026
Mises à jour des dossiers d'étude
Dernière mise à jour publiée (Réel)
2 septembre 2026
Dernière mise à jour soumise répondant aux critères de contrôle qualité
28 août 2026
Dernière vérification
1 août 2026
Plus d'information
Termes liés à cette étude
Mots clés
Termes MeSH pertinents supplémentaires
Autres numéros d'identification d'étude
- CTO #5637
- KMI 181800 (Autre subvention/numéro de financement: Canadian Institutes of Health Research (CIHR))
Plan pour les données individuelles des participants (IPD)
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Informations sur les médicaments et les dispositifs, documents d'étude
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Non
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