How to inform relatives at risk of hereditary diseases? A mixed-methods systematic review on patient attitudes

Abstract

When a genetic disease-causing variant causing autosomal dominant diseases is identified, predictive DNA testing is possible for at-risk relatives to investigate whether they are carrying the familial variant. In current practice, the proband is asked to inform at-risk relatives, often supported by a family letter. This review summarizes the literature on preferences of probands and relatives regarding how and by whom at-risk relatives should be informed. A search involving digital databases (Pubmed, Medline, and PsycInfo) focusing on patient attitudes toward informing relatives at risk of autosomal dominant onco-, cardio-, or neurogenetic disease, resulted in 1,431 screened records, of which 117 full-text papers were assessed. Eventually, 32 studies were selected. This review shows that a majority of participants was in favor of someone in the family to inform their at-risk relatives, with participants generally feeling responsible for informing relatives at risk themselves. However, variation in patient preferences regarding who should inform was observed. Face-to-face disclosure by the proband with additional information material for relatives provided by HCPs was most appreciated. Actively offered support of healthcare professionals was desired. In conclusion, although the family-mediated approach was appreciated by a majority of participants, support by healthcare professionals was desired. By taking patient attitudes into account, the approach used to inform at-risk relatives could be improved. Subsequently, more relatives will be informed and enabled to attend genetic counseling and make an informed decision regarding predictive DNA testing. Further research on patient attitudes, specifying for disease type and cultural background, is needed.

Keywords: attitudes; autosomal dominant; carrier testing; cascade testing; communication; education; family; genetic counseling; genetic counselors; genetic testing; genetics services; hereditary disease; informing relatives; patient attitudes; service delivery models; systematic review.