Randomized Controlled Trial to Assess EHR Prediction Model to Identify Pediatric Patients With Undiagnosed Genetic Disease"
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- Number of Diagnoses in the intervention arm compared to the control arm
研究概览
简要总结
This study will evaluate the effectiveness of SIGHT as a clinical support system to prompt provider/patient discussion and shared decision making regarding the need for genetic testing in the form of a chromosomal microarray. Identifying patients at high predicted probability of needing a test in clinical settings will be examined to determine if it decreases the duration of time to testing and increases diagnostic yield. SIGHT requires only data already collected in routine clinical encounters and is calculated prior to a clinical visit at VUMC.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Screening
- 盲法
- None
盲法说明
There will be no blinding of participants or physicians as patients and providers will follow standard of care. Providers may dismiss the SIGHT - prompted provider message and not act on its recommendations at any time. No other intervention is planned. Patients would be unaware of the providers' decisions in that case unless the provider chooses independently to discuss the SIGHT score with them. A sample size re-estimation will be conducted after 250 patients have been randomized to account for uncertainty in the initial test-referral rate used in the sample size calculation. An independent analyst, who will be blinded to the randomization assignment, will calculate the observed test-referral rate across all patients.
入排标准
- 年龄范围
- 1 Year 至 20 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All patients > 1 year old, < 20 years of age with a scheduled visit to the VUMC pediatric primary care.
排除标准
- •Patients who have been programmatically excluded due to having already received a chromosomal microarray at VUMC and patients > 20 years of age or < 1 year of age.
研究组 & 干预措施
Intervention
SIGHT predictions will be generated prior to a scheduled encounter in one of the participating study clinics. Patients with a SIGHT probability above a predefined risk level (0.30 predicted risk based on validation and prior chart review by a genetic counselor, Morley et al, 2021 below) will prompt randomization to the standard care or SIGHT-guided intervention arm.
For patients randomized to the SIGHT-guided intervention arm, the clinician responsible for care in that encounter (determined in the usual course of care) will receive a message for that patient and details as to the contributing clinical features that led to the high probability.
The message will include a recommendation, but providers will have full discretion to offer genetic testing or refer to genetics providers. The management of screening will follow standard of care at VUMC.
干预措施: SIGHT Prompted Provider Message (Device)
Comparator
All remaining patients will be the comparator arm which will be standard of care as to avoid ethical situations of withholding potentially important care.
结局指标
主要结局
Number of Diagnoses in the intervention arm compared to the control arm
时间窗: 2 years
Number of patients diagnosed via a Chromosomal Microarray.
次要结局
- Time to test(2 years)
- Rate of genetic testing(2 years)
- Diagnosis via any test (molecular confirmation)(2 years)
- Abnormal CMA(2 years)
研究者
Douglas Ruderfer
Associate Professor of Medicine
Vanderbilt University Medical Center