Year: 2025
Type: editorial
Abstract: This editorial refers to ‘Impact of genetic risk information for cardiovascular disease on behavioural changes, psychological responses and risk factor modification: a systematic review’, by R.(T.) Chen et al., https://doi.org/10.1093/eurjpc/zwae362. As genetic testing, including polygenic risk scores (PRSs), becomes more accessible, it is important to assess whether disclosure of genetic risk influences health behaviours. Chen et al.1 conducted a systematic review to evaluate the effects of disclosing cardiovascular genetic risk information on a range of outcomes, including behavioural, psychological, and clinical factors. Based on their analysis of 11 randomized controlled trials (RCTs), they concluded that while knowledge of genetic risk information might encourage certain health behaviour changes, the effects on psychological factors and clinical outcomes are limited. The included studies varied in design, the type of genetic risk information provided (monogenic vs. PRS), the methods of communication (digital platforms vs. in-person counselling), and primary endpoints, making it difficult to effectively pool data for meta-analysis and draw firm conclusions. The review employed narrative synthesis to address this heterogeneity; such an approach, while appropriate for qualitative studies, may not have the statistical rigour needed to evaluate the effectiveness of genetic risk communication. Many of the included studies had small sample sizes, resulting in wide confidence intervals. Additionally, in some cases, the endpoints of interest were secondary outcomes of RCTs rather than primary endpoints and the studies may not have been powered for the former.2,3 Furthermore, self-reported measures for behavioural changes may not accurately reflect actual modifications, due to recall bias and inaccuracies. In addition, the included studies were at varying risk of bias, with some lacking proper blinding procedures or having incomplete outcome data. The heterogeneity in genetic risk communication protocols across studies—ranging from written reports to comprehensive counselling sessions—makes it challenging to identify which specific communication strategies are most effective. Finally, most of the included studies did not have extended follow-up and it is unclear whether the behavioural changes observed following genetic risk disclosure are enduring or merely transient.
Authors: Mohammadreza Naderian, Iftikhar J Kullo
Institution: Mayo Clinic
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4407190284