Tailored approach to inform family members at risk of inherited cardiac diseases: a RCT
- Conditions
- Predictive genetic testing, inherited cardiac diseases, inform family members at risk, tailored
- Registration Number
- NL-OMON27057
- Lead Sponsor
- Academic Medical Center, University Medical Center Groningen & University Medical Center Utrecht
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 425
The study population consists of:
(1) Index patients with an inherited cardiac disease and a putative pathogenic mutation (i.e., class 4 or 5 mutation): (a) Index patients who are the first in their family to attend pre-test genetic counselling about genetic testing for inherited cardiac diseases, (b) Index patients that have at least one alive adult family member at risk of inheriting the mutation, (c) Index patients who are aged 18 years or older, (d) Index patients who are able to read and write Dutch. For final enrolment: Index patients who have a putative pathogenic mutation detected at the DNA test.
(2) Their first-degree, and second-degree family members in case of a deceased connecting first-degree family member that is affected or suspected to be affected (in case of sudden cardiac death), who are supposed to have a 50% risk of inheriting the disease-causing mutation. (a) Family members who are aged 18 years and older, (b) Family members who are able to read and write Dutch.
(1) Index patients and family members who have cognitive functioning problems and therefore are not able to provide informed consent.
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method The difference between the intervention- and the control group, in uptake of genetic counselling and testing by family members at risk of inherited cardiac diseases in the first year after detection of the disease-causing mutation in the index patient, compared to the total number of at-risk family members. <br /><br>Conditional uptake, defined as the number of family members that is genetically tested relative to the number of family members attending genetic counselling in the first year after detection of the disease-casing mutation. <br>
- Secondary Outcome Measures
Name Time Method (1) Appreciation of the used approach<br /><br>(2) Impact on family relationships perceived by index patients and family members<br /><br>(3) Impact on psychological functioning (i.e., worrying, feelings of fear and depression) of both index patients and family members<br>