How to inform at-risk relatives? Attitudes of 1379 Dutch patients, relatives, and members of the general population.

Marleen van den Heuvel L1,2, Stemkens D3, van Zelst-Stams WAG4, Willeboordse F5, Christiaans I1,6.

Author information

1: Department of Clinical Genetics, Amsterdam University Medical Centers/University of Amsterdam, Amsterdam, The Netherlands.
2: Netherlands Heart Institute, Utrecht, The Netherlands.
3: VSOP Dutch Patient Alliance for Rare and Genetic Diseases, Soest, The Netherlands.
4: Department of Human Genetics, Radboud Institute for Health Sciences, Radboud University Medical Center/Radboud University, Nijmegen, The Netherlands.
5: Knowledge Institute of Medical Specialists, Utrecht, The Netherlands.
6: Department of Genetics, University Medical Center Groningen/University of Groningen, Groningen, The Netherlands.

Abstract

The uptake of predictive DNA testing in families with a hereditary disease is <50%. Current practice often relies on the proband to inform relatives about the possibility of predictive DNA testing, but not all relatives are informed adequately. To enable informed decision-making concerning predictive DNA testing, the approach used to inform at-risk relatives needs to be optimized. This study investigated the preferences of patients, relatives, and the general population from the Netherlands on how to inform relatives at risk of autosomal dominant diseases. Online surveys were sent to people with autosomal dominant neuro-, onco-, or cardiogenetic diseases and their relatives via patient organizations (n = 379), and to members of the general population via a commercial panel (n = 1,000). Attitudes of the patient and population samples generally corresponded. A majority believed that initially only first-degree relatives should be informed, following the principles of a cascade screening approach. Most participants also thought that probands and healthcare professionals (HCPs) should be involved in informing relatives, and a large proportion believed that HCPs should contact relatives directly in cases where patients are unwilling to inform, both for untreatable and treatable conditions. Participants from the patient sample were of the opinion that HCPs should actively offer support. Our findings show that both patients and HCPs should be involved in informing at-risk relatives of autosomal dominant diseases and suggest that relatives' 'right to know' was considered a dominant issue by the majority of participants. Further research is needed on how to increase proactive support in informing of at-risk relatives.

KEYWORDS:

attitudes; autosomal dominant disease; beliefs; cascade screening; cascade testing; communication; ethics; family; genetics services; inherited predisposition; population perspectives; service delivery models; survey design