An observational study in Evaluation of Mainstreamed Models of Genetic Service Delivery, Genetic Disease and Neurodevelomental Disorders, sponsored by The Hospital for Sick Children. Not yet recruiting. Per ClinicalTrials.gov, last updated 2026-09-02.
Sponsored by The Hospital for Sick Children · Observational
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.
All patients who have received genome-wide sequencing in Ontario
For intervention outcomes,
- All patients who have received genome-wide sequencing in Ontario are eligible
For implementation outcomes,
Patients receiving GWS through geneticists in Ontario
Genetic: Genome-wide Sequencing Ordering
Patients receiving GWS through non-geneticists in Ontario
Genetic: Genome-wide Sequencing Ordering
Patients receiving GWS through non-geneticist clinicians at designated sites in Ontario with additional implementation strategies
Genetic: Genome-wide Sequencing Ordering
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)
Diagnostic utility
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.
Time frame: From January 2025 to August 2027
Acceptability
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.
Time frame: 12 months from enrolment
Feasibility
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.
Time frame: 12 months from enrolment
Sustainability
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.
Time frame: 12 months from enrolment
Timeliness
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.
Time frame: From January 1, 2025 to August 31, 2027
Cost-effectiveness
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.
Time frame: From January 1, 2025 to August 31, 2027
Adoption
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.
Time frame: From January 1, 2025 to August 31, 2027
Fidelity
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.
Time frame: From January 1, 2025 to August 31, 2027
Penetration
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.).
Time frame: From January 1, 2025 to August 31, 2027
Acceptability (to patients/families)
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.
Time frame: From enrolment to August 31, 2027
No study locations are listed for this record.
Plan to share: No
No publications or documents are linked to this record.
This study is not yet recruiting, as verified in Aug 2026. You cannot join it, but the record below documents what was studied.
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The Hospital for Sick Children