Evaluation of Mainstreamed Models of Genetic Service DeliveryNCT07799792
Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada
An observational study of Evaluation of Mainstreamed Models of Genetic Service Delivery and Genetic Disease, run by The Hospital for Sick Children.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Evaluation of Mainstreamed Models of Genetic Service Delivery, Genetic Disease, Neurodevelomental Disorders
- What is being tested?
- Genome-wide Sequencing Ordering
- How many people
- 100 participants
- Where
- No sites listed yet
- Study dates
- 1 Sep 2026to 31 Aug 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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,
- 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
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: 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.
- Conditions
- Evaluation of Mainstreamed Models of Genetic Service Delivery, Genetic Disease, Neurodevelomental Disorders
- Being tested
- Genome-wide Sequencing Ordering
- Keywords
- mainstreaming, rare disease, genome-wide sequencing, implementation, genomic sequencing, neurodevelopmental disease
- Medical subject headings
- Genetic Diseases, Inborn, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genome-wide Sequencing OrderingGenetic
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)
| Study group | Role | What they receive |
|---|---|---|
| Standard Arm | Patients receiving GWS through geneticists in Ontario Receives: Genetic: Genome-wide Sequencing Ordering | |
| Intervention Arm 1 | Patients receiving GWS through non-geneticists in Ontario Receives: Genetic: Genome-wide Sequencing Ordering | |
| Intervention Arm 2 | Patients receiving GWS through non-geneticist clinicians at designated sites in Ontario with additional implementation strategies Receives: Genetic: Genome-wide Sequencing Ordering |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: From January 2025 to August 2027
Secondary outcomes (9)
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.).
Measured: 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.
Measured: From enrolment to August 31, 2027
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Sep 2026
- Study start1 Sep 2026 (estimated)
- Primary completion31 Aug 2027 (estimated)
- Study completion31 Aug 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Evaluation of Mainstreamed Models of Genetic Service DeliveryStudies of the same condition, open and under way.
- More trials run by The Hospital for Sick ChildrenThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The Hospital for Sick Children
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Robin Hayeems, The Hospital for Sick Children
- Investigators
- Robin Z Hayeems, ScM, PhD, Principal investigator, The Hospital for Sick Children
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07799792
- Sponsor's protocol ID
- CTO #5637
- Other IDs
- KMI 181800
- Status last verified
- Aug 2026
- First submitted
- 18 Aug 2026
- Last updated
- 2 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada: Protocol for a Province-wide Hybrid Type 2 Implementation-effectiveness Trial
- ClinicalTrials.gov ID
- NCT07799792
- Acronym / sponsor ID
- CTO #5637
- Conditions
- Evaluation of Mainstreamed Models of Genetic Service Delivery, Genetic Disease, Neurodevelomental Disorders
- Keywords
- mainstreaming, rare disease, genome-wide sequencing, implementation, genomic sequencing, neurodevelopmental disease
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- The Hospital for Sick ChildrenUniversity, hospital or other
- Study start
- 1 Sep 2026 (estimated)
- Primary completion
- 31 Aug 2027 (estimated)
- Study completion
- 31 Aug 2027 (estimated)
- First posted
- 2 Sep 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Standard Arm | – | Genetic: Genome-wide Sequencing OrderingPatients receiving GWS through geneticists in Ontario |
| Intervention Arm 1 | – | Genetic: Genome-wide Sequencing OrderingPatients receiving GWS through non-geneticists in Ontario |
| Intervention Arm 2 | – | Genetic: Genome-wide Sequencing OrderingPatients receiving GWS through non-geneticist clinicians at designated sites in Ontario with additional implementation strategies |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All patients who have received genome-wide sequencing in Ontario
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genome-wide Sequencing OrderingDelivery 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) | Genetic | Intervention Arm 1, Intervention Arm 2, Standard Arm |
Primary outcome
Diagnostic utility
Time frame: 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.
9 secondary outcomes
Acceptability
Time frame: 12 months from enrolment
Feasibility
Time frame: 12 months from enrolment
Sustainability
Time frame: 12 months from enrolment
Timeliness
Time frame: From January 1, 2025 to August 31, 2027
Cost-effectiveness
Time frame: From January 1, 2025 to August 31, 2027
Adoption
Time frame: From January 1, 2025 to August 31, 2027
Fidelity
Time frame: From January 1, 2025 to August 31, 2027
Penetration
Time frame: From January 1, 2025 to August 31, 2027
Acceptability (to patients/families)
Time frame: From enrolment to August 31, 2027
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Sep 2026.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Robin Z Hayeems, ScM, PhD principal investigator
The Hospital for Sick Children
Questions about this trial
What is this clinical trial studying?
An observational study of Evaluation of Mainstreamed Models of Genetic Service Delivery and Genetic Disease, run by The Hospital for Sick Children.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 2 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Erin Hsue, HBSc, MHSc (416-813-7654 ext. 414638, grip.study@sickkids.ca), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic utility (time frame: From January 2025 to August 2027). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Sep 2026.