TY - JOUR
T1 - A tailored approach towards informing relatives at risk of inherited cardiac conditions
T2 - study protocol for a randomised controlled trial
AU - van den Heuvel, Lieke M
AU - Hoedemaekers, Yvonne M
AU - Baas, Annette F
AU - van Tintelen, J Peter
AU - Smets, Ellen M A
AU - Christiaans, Imke
N1 - Publisher Copyright:
© 2019 Author(s).
PY - 2019/7/9
Y1 - 2019/7/9
N2 - Introduction: In current practice, probands are asked to inform relatives about the possibility of predictive DNA testing when a pathogenic variant causing an inherited cardiac condition (ICC) is identified. Previous research on the uptake of genetic counselling and predictive DNA testing in relatives suggests that not all relatives are sufficiently informed. We developed a randomised controlled trial to evaluate the effectiveness of a tailored approach in which probands decide together with the genetic counsellor which relatives they inform themselves and which relatives they prefer to have informed by the genetic counsellor. Here, we present the study protocol of this randomised controlled trial. Methods: A multicentre randomised controlled trial with parallel-group design will be conducted in which an intervention group receiving the tailored approach will be compared with a control group receiving usual care. Adult probands diagnosed with an ICC in whom a likely pathogenic or pathogenic variant is identified will be randomly assigned to the intervention or control group (total sample: n=85 probands). Primary outcomes are uptake of genetic counselling and predictive DNA testing by relatives (total sample: n=340 relatives). Secondary outcomes are appreciation of the approach used and impact on familial and psychological functioning, which will be assessed using questionnaires. Relatives who attend genetic counselling will be asked to fill out a questionnaire as well. Ethics and dissemination: Ethical approval was obtained from the Medical Ethical Committee of the Amsterdam University Medical Centres (MEC 2017-145), the Netherlands. All participants will provide informed consent prior to participation in the study. Results: of the study on primary and secondary outcome measures will be published in peer-reviewed journals.
AB - Introduction: In current practice, probands are asked to inform relatives about the possibility of predictive DNA testing when a pathogenic variant causing an inherited cardiac condition (ICC) is identified. Previous research on the uptake of genetic counselling and predictive DNA testing in relatives suggests that not all relatives are sufficiently informed. We developed a randomised controlled trial to evaluate the effectiveness of a tailored approach in which probands decide together with the genetic counsellor which relatives they inform themselves and which relatives they prefer to have informed by the genetic counsellor. Here, we present the study protocol of this randomised controlled trial. Methods: A multicentre randomised controlled trial with parallel-group design will be conducted in which an intervention group receiving the tailored approach will be compared with a control group receiving usual care. Adult probands diagnosed with an ICC in whom a likely pathogenic or pathogenic variant is identified will be randomly assigned to the intervention or control group (total sample: n=85 probands). Primary outcomes are uptake of genetic counselling and predictive DNA testing by relatives (total sample: n=340 relatives). Secondary outcomes are appreciation of the approach used and impact on familial and psychological functioning, which will be assessed using questionnaires. Relatives who attend genetic counselling will be asked to fill out a questionnaire as well. Ethics and dissemination: Ethical approval was obtained from the Medical Ethical Committee of the Amsterdam University Medical Centres (MEC 2017-145), the Netherlands. All participants will provide informed consent prior to participation in the study. Results: of the study on primary and secondary outcome measures will be published in peer-reviewed journals.
KW - cardiogenetics
KW - family-mediated approach
KW - informing relatives at risk
KW - inherited cardiac conditions
KW - randomised controlled trial
KW - tailored approach
UR - http://www.scopus.com/inward/record.url?scp=85068828863&partnerID=8YFLogxK
U2 - 10.1136/bmjopen-2018-025660
DO - 10.1136/bmjopen-2018-025660
M3 - Article
C2 - 31289060
SN - 2044-6055
VL - 9
JO - BMJ Open
JF - BMJ Open
IS - 7
M1 - e025660
ER -