If undetected, inherited cardiac conditions can lead to sudden cardiac death, while treatment options are available. Predictive DNA testing is therefore advised for at-risk relatives, and probands are currently asked to inform relatives about this. However, fewer than half of relatives attend genetic counselling. In this trial, we compared a tailored approach to informing relatives, in which probands were asked whether they preferred relatives to be informed by themselves or by the genetic counsellor, with current practice. Our primary outcome was uptake of genetic counselling in relatives in the first year after test result disclosure. Secondary outcomes were evaluation of the approach and impact on psychological/family functioning measured 3 (T1) and 9 (T2) months post-disclosure via telephone interviews and questionnaires. We included 96 probands; 482 relatives were eligible for counselling and genetic testing. We observed no significant difference in uptake of genetic counselling between the control (38%) and the intervention (37%) group (p = 0.973). Nor were there significant differences between groups in impact on family/psychological functioning. Significantly more probands in the tailored group were satisfied (p = 0.001) and felt supported (p = 0.003) by the approach, although they also felt somewhat coerced to inform relatives (p < 0.001) and perceived room for improvement (p < 0.001). To conclude, we observed no differences in uptake and impact on family/psychological functioning between the current and tailored approach, but probands in the tailored group more often felt satisfied. Further research on barriers to relatives attending genetic counselling and on how to optimize the provision of a tailored approach is needed.
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The datasets generated and/or analysed during the current study are available from the corresponding author on reasonable request.
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We thank T. Filippini, R. Soorchy and S. Kleinendorst for their assistance in the study. We also thank K. McIntyre for editing the manuscript.
This work was supported by the Netherlands Cardiovascular Research Initiative, an initiative supported by Dutch Heart Foundation (2015-12 eDETECT; 2017-10 DOLPHIN GENESIS).
Ethical clearance for conducting this randomised controlled trial was obtained for all participating centres (METC 2017.145).
The authors declare no competing interests.
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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van den Heuvel, L.M., Hoedemaekers, Y.M., Baas, A.F. et al. A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial. Eur J Hum Genet (2021). https://doi.org/10.1038/s41431-021-00993-9