Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada

NCT07799792 | Not Yet Recruiting

• 2 other identifiers: CTO #5637KMI 181800
• Study Type: observational
• Target: 100
• Locations: 0 countries
• Sites: N/A

Brief 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. 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

Keywords

mainstreaming; rare disease; genome-wide sequencing; implementation; genomic sequencing; neurodevelopmental disease

Outcome Measures

Primary Outcomes (1)

• 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.

  From January 2025 to August 2027

Secondary Outcomes (9)

• Acceptability

  12 months from enrolment

• Feasibility

  12 months from enrolment

• Sustainability

  12 months from enrolment

• Timeliness

  From January 1, 2025 to August 31, 2027

• Cost-effectiveness

  From January 1, 2025 to August 31, 2027

Study Arms (3)

Standard Arm

Patients receiving GWS through geneticists in Ontario

Genetic: Genome-wide Sequencing Ordering

Intervention Arm 1

Patients receiving GWS through non-geneticists in Ontario

Genetic: Genome-wide Sequencing Ordering

Intervention Arm 2

Patients receiving GWS through non-geneticist clinicians at designated sites in Ontario with additional implementation strategies

Genetic: Genome-wide Sequencing Ordering

Interventions

Genome-wide Sequencing Ordering GENETIC

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; Intervention Arm 2; Standard Arm

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• The Hospital for Sick Children: lead

MeSH Terms

Conditions

Genetic Diseases, Inborn; Rare Diseases

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Robin Z Hayeems, ScM, PhD

  The Hospital for Sick Children

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Erin Hsue, HBSc, MHSc

CONTACT

416-813-7654; grip.study@sickkids.ca

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Senior Scientist

Study Record Dates

• First Submitted: August 18, 2026
• First Posted: September 2, 2026
• Study Start: September 1, 2026
• Primary Completion (Estimated): August 31, 2027
• Study Completion (Estimated): August 31, 2027
• Last Updated: September 2, 2026

Record last verified: 2026-08

Data Sharing

• IPD Sharing: Will not share