Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees

Lieke M van den Heuvel, Mette J Huisinga, Yvonne M Hoedemaekers, Annette F Baas, Mirjam Plantinga, Lidewij Henneman, J Peter van Tintelen, Ellen M A Smets, Imke Christiaans

Research output: Contribution to journalArticleAcademicpeer-review


Inherited cardiac conditions (ICCs) can lead to sudden cardiac death at young age, even without previous symptoms, yet often remain undetected. To prevent sudden cardiac death, cardiac monitoring and/or predictive DNA testing is advised for at-risk relatives. Probands in whom a causal variant is detected are asked to inform their relatives about the possibility of testing, often supported by a family letter. This qualitative study investigates experiences with and attitudes toward this family-mediated approach in ICCs and explores whether and how improvements can be made. Two online focus groups were conducted with 28 healthcare professionals (HCPs) from various disciplines, as were 25 face-to-face semi-structured interviews with counselees (10 probands; 15 relatives). Data were analysed by two researchers independently using a thematic approach. Participants, both HCPs and counselees, preferred that probands inform relatives about genetic risks in ICCs, but both groups struggled with the dependency on and burden on probands to inform their relatives. To overcome this, HCPs do see a more active role for themselves in informing relatives, but prefer uniformity in procedures in order to maintain their workload. Counselees, on the other hand, prefer a tailored information provision strategy adjusted to family dynamics and the personality characteristics of relatives. In conclusion, although it is generally preferred that probands inform relatives themselves, a more active role of HCPs could be considered to overcome the dependency and burden on probands. Further research is needed to study how HCPs can engage more actively in informing at-risk relatives in current clinical genetic practise.

Original languageEnglish
Pages (from-to)1341-1350
Number of pages10
JournalEuropean Journal of Human Genetics
Issue number9
Early online date3 May 2019
Publication statusPublished - 1 Sep 2019

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