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

N/ANot Yet RecruitingNCT07799792

The Hospital for Sick Children100 enrolled

Overview

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 Type

OBSERVATIONAL

Enrollment

100

Conditions

Evaluation of Mainstreamed Models of Genetic Service Delivery Genetic Disease Neurodevelomental Disorders

Interventions

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

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

Secondary Outcomes

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.