Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada: Protocol for a Province-wide Hybrid Type 2 Implementation-effectiveness Trial
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 100
- 主要终点
- Diagnostic utility
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- 未提供
研究组 & 干预措施
Standard Arm
Patients receiving GWS through geneticists in Ontario
干预措施: Genome-wide Sequencing Ordering (Genetic)
Intervention Arm 1
Patients receiving GWS through non-geneticists in Ontario
干预措施: Genome-wide Sequencing Ordering (Genetic)
Intervention Arm 2
Patients receiving GWS through non-geneticist clinicians at designated sites in Ontario with additional implementation strategies
干预措施: Genome-wide Sequencing Ordering (Genetic)
结局指标
主要结局
Diagnostic utility
时间窗: 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.
次要结局
- 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)
- Adoption(From January 1, 2025 to August 31, 2027)
- Fidelity(From January 1, 2025 to August 31, 2027)
- Penetration(From January 1, 2025 to August 31, 2027)
- Acceptability (to patients/families)(From enrolment to August 31, 2027)
研究者
Robin Hayeems
Senior Scientist
The Hospital for Sick Children