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

NCT07799792 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2026-09-02

No results posted yet for this study

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

Interventions

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)

Sponsors & Collaborators

  • The Hospital for Sick Children

    lead OTHER

Principal Investigators

  • Robin Z Hayeems, ScM, PhD · The Hospital for Sick Children

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-09-01
Primary Completion
2027-08-31
Completion
2027-08-31

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07799792 on ClinicalTrials.gov