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

Abstract

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
JournalEuropean Journal of Human Genetics
DOIs
Publication statusE-pub ahead of print - 3 May 2019

Cite this

@article{18dd945875b04a64a6728b7b401ebfad,
title = "Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees",
abstract = "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.",
author = "{van den Heuvel}, {Lieke M} and Huisinga, {Mette J} and Hoedemaekers, {Yvonne M} and Baas, {Annette F} and Mirjam Plantinga and Lidewij Henneman and {van Tintelen}, {J Peter} and Smets, {Ellen M A} and Imke Christiaans",
year = "2019",
month = "5",
day = "3",
doi = "10.1038/s41431-019-0410-9",
language = "English",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",

}

Informing relatives at risk of inherited cardiac conditions : experiences and attitudes of healthcare professionals and counselees. / van den Heuvel, Lieke M; Huisinga, Mette J; Hoedemaekers, Yvonne M; Baas, Annette F; Plantinga, Mirjam; Henneman, Lidewij; van Tintelen, J Peter; Smets, Ellen M A; Christiaans, Imke.

In: European Journal of Human Genetics, 03.05.2019.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Informing relatives at risk of inherited cardiac conditions

T2 - experiences and attitudes of healthcare professionals and counselees

AU - van den Heuvel, Lieke M

AU - Huisinga, Mette J

AU - Hoedemaekers, Yvonne M

AU - Baas, Annette F

AU - Plantinga, Mirjam

AU - Henneman, Lidewij

AU - van Tintelen, J Peter

AU - Smets, Ellen M A

AU - Christiaans, Imke

PY - 2019/5/3

Y1 - 2019/5/3

N2 - 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.

AB - 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.

U2 - 10.1038/s41431-019-0410-9

DO - 10.1038/s41431-019-0410-9

M3 - Article

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

ER -