Predictive genetic testing, inherited cardiac diseases, inform family members at risk, tailored
Conditions
Interventions
In this study, a tailored approach of informing family members at risk of inherited cardiac diseases will be investigated, in which index patients will be informed about the risk for their family memb
Sponsors
Academic Medical Center, University Medical Center Groningen & University Medical Center Utrecht
Eligibility
Inclusion criteria
Inclusion criteria: 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): Inclusion criteria: (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. Inclusion criteria: (a) Family members who are aged 18 years and older, (b) Family members who are able to read and write Dutch.
Exclusion criteria
Exclusion criteria: Exclusion criteria: (1) Index patients and family members who have cognitive functioning problems and therefore are not able to provide informed consent.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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. 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. | — |
Secondary
| Measure | Time frame |
|---|---|
| (1) Appreciation of the used approach (2) Impact on family relationships perceived by index patients and family members (3) Impact on psychological functioning (i.e., worrying, feelings of fear and depression) of both index patients and family members | — |
Contacts
Public ContactL.M. van den Heuvel
Department of Clinical Genetics, Academic Medical Center (AMC)
Outcome results
None listed