The Electronic Cardiovascular Genetics (eCG) Clinic for Presymptomatic Genetic Counselling: Evaluation of Uptake, Psychological Impact and Satisfaction Among Users
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- UMC Utrecht
- 入组人数
- 170
- 试验地点
- 2
- 主要终点
- Uptake
研究概览
简要总结
Inherited cardiovascular conditions generally inherit following an autosomal dominant pattern. When a mutation is detected in the proband, relatives can have predictive DNA testing, and - when they are carrier - be monitored and timely treated if needed. Currently, less than half of relatives attends genetic counselling. With the eCG Family Clinic, an easily accessible virtual clinic which better suits the needs and preferences of relatives will be offered. At the eCG Family Clinic, relatives will receive tailored information to support informed decision-making, a DNA-test at home if desired, and can be referred for local cardiac monitoring if relatives appear to be a carrier. Implementation of the eCG Family Clinic in clinical practice is compared to current practice in this clinical trial.
详细描述
Background:
Inherited cardiovascular conditions generally inherit following an autosomal dominant pattern. When a mutation is detected in the proband, relatives can have predictive DNA testing, and - when they are carrier - be monitored and timely treated if needed. Currently, less than half of relatives attends genetic counselling. With the eCG Family Clinic, an easily accessible virtual clinic which better suits the needs and preferences of relatives will be offered. At the eCG Family Clinic, relatives will receive tailored information to support informed decision-making, a DNA-test at home if desired, and can be referred for local cardiac monitoring if relatives appear to be a carrier. Implementation of the eCG Family Clinic in clinical practice (intervention group) is compared to current practice (control group) in this clinical trial.
Hypotheses:
It is hypothesized that the eCG Family Clinic can lower practical barriers for at-risk relatives to attend genetic counselling and equally or better suit the needs of probands and relatives in this regard. A higher uptake of presymptomatic counselling in the eCG Family Clinic (intervention) group is expected.
Design:
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Health Services Research
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 90 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •> 18 y/o
- •Diagnosed with inherited hypertrophic cardiomyopathy (HCM) or dialted cardiomyopathy (DCM))
- •Class 4 or 5 variant identified.
- •Access to a working laptop or computer device.
- •At risk relatives:
- •> 18 y/o
- •First degree family member, or second degree in case of a deceased first degree relative
- •Access to a working laptop or computer device.
- •Healthcare professionals:
- •- Genetic counsellors of the genetics department directly involved in the care given to the family.
排除标准
- •- Insufficient control of the Dutch language or digital skills.
结局指标
主要结局
Uptake
时间窗: 1 year post disclosure of the proband result
Uptake of genetic counselling and predictive DNA testing: i.e., the number of family members attending genetic counselling / pursuing genetic testing, relative to the total number of family members eligible for genetic counselling / genetic testing.
Experience with the eCG Family Clinic
时间窗: T1: on average 4 weeks, after counselling, T2: on average after 1/2 months, after receiving the DNA test results
Measured using a self-constructed 9-item questionnaire, with answer options ranging from 1=totally disagree to 5=totally agree (score range: 0-36). In addition, the Dutch patient Satisfaction Questionnaire (PSQ) will be administered among relatives. This questionnaire consists of 5 questions using a 10-point scale (1=not at all to 10=a lot). Scores range from 0-45. A higher score indicates higher satisfaction.
次要结局
- Empowerment / genetic counselling outcomes(T1: on average 4 weeks, after counselling, T2: on average after 1/2 months, after receiving the DNA test results)
- Informed decision-making(T1: on average 4 weeks, after counselling, T2: on average after 1/2 months, after receiving the DNA test results)
- Impact on feelings of anxiety(T1: on average 4 weeks, after counselling, T2: on average after 1/2 months, after receiving the DNA test results)
- Efficiency(Administered per genetic consultation through study completion, on average two years)
研究者
Lieke M van den Heuvel, PhD
Principal Investigator
UMC Utrecht