Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada
2026年8月28日 更新者：Robin Hayeems、The Hospital for Sick Children
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.
研究概览
地位
尚未招聘
研究类型
观察性的
注册 (估计的)
100
联系人和位置
本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。
学习联系方式
- 姓名：Erin Hsue, HBSc, MHSc
- 电话号码：414638 416-813-7654
- 邮箱：grip.study@sickkids.ca
参与标准
研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。
资格标准
适合学习的年龄
- 孩子
- 成人
- 年长者
接受健康志愿者
不
取样方法
非概率样本
研究人群
All patients who have received genome-wide sequencing in Ontario
描述
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
学习计划
本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。
研究是如何设计的？
设计细节
队列和干预
团体/队列 |
干预/治疗 |
|---|---|
|
Standard Arm
Patients receiving GWS through geneticists in Ontario
|
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
Patients receiving GWS through non-geneticists in Ontario
|
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 2
Patients receiving GWS through non-geneticist clinicians at designated sites in Ontario with additional implementation strategies
|
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)
|
研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Diagnostic utility
大体时间：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.
|
From January 2025 to August 2027
|
次要结果测量
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Acceptability
大体时间：12 months from enrolment
|
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.
|
12 months from enrolment
|
|
Feasibility
大体时间：12 months from enrolment
|
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.
|
12 months from enrolment
|
|
Sustainability
大体时间：12 months from enrolment
|
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.
|
12 months from enrolment
|
|
Timeliness
大体时间：From January 1, 2025 to August 31, 2027
|
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.
|
From January 1, 2025 to August 31, 2027
|
|
Cost-effectiveness
大体时间：From January 1, 2025 to August 31, 2027
|
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.
|
From January 1, 2025 to August 31, 2027
|
|
Adoption
大体时间：From January 1, 2025 to August 31, 2027
|
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.
|
From January 1, 2025 to August 31, 2027
|
|
Fidelity
大体时间：From January 1, 2025 to August 31, 2027
|
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.
|
From January 1, 2025 to August 31, 2027
|
|
Penetration
大体时间：From January 1, 2025 to August 31, 2027
|
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.).
|
From January 1, 2025 to August 31, 2027
|
|
Acceptability (to patients/families)
大体时间：From enrolment to August 31, 2027
|
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.
|
From enrolment to August 31, 2027
|
合作者和调查者
在这里您可以找到参与这项研究的人员和组织。
调查人员
- 首席研究员：Robin Z Hayeems, ScM, PhD、The Hospital for Sick Children
研究记录日期
这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。
研究主要日期
学习开始 (估计的)
2026年9月1日
初级完成 (估计的)
2027年8月31日
研究完成 (估计的)
2027年8月31日
研究注册日期
首次提交
2026年8月18日
首先提交符合 QC 标准的
2026年8月28日
首次发布 (实际的)
2026年9月2日
研究记录更新
最后更新发布 (实际的)
2026年9月2日
上次提交的符合 QC 标准的更新
2026年8月28日
最后验证
2026年8月1日
更多信息
与本研究相关的术语
其他相关的 MeSH 术语
其他研究编号
- CTO #5637
- KMI 181800 (其他赠款/资助编号：Canadian Institutes of Health Research (CIHR))
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