Ribeiro Iara, Tavares João, Sousa Liliana, Mendes Álvaro
Department of Education and Psychology, University of Aveiro, Aveiro, Portugal.
RISE-Health, School of Health Sciences, University of Aveiro, Aveiro, Portugal.
Eur J Med Genet. 2025 Apr;74:105007. doi: 10.1016/j.ejmg.2025.105007. Epub 2025 Mar 3.
Genetic and genomic testing often have implications not only for the individual tested but also for their genetic relatives. This study aims to characterize public attitudes toward the familial disclosure of genetic risks. An online survey was completed by a sample of the Portuguese general population (n = 1034), assessing preferences for genetic testing, the receipt of genetic risk information, and the sharing of such information with family members. Results reveal a strong preference among respondents for receiving information on genetic risks and undergoing genetic testing. There was also ample agreement that family members should be informed about the risk of developing an inherited condition and undergo genetic testing. Additionally, participants expressed a preference for healthcare professionals to inform both themselves and their family members of genetic risks. Our findings suggest broad acceptance of the possibility for healthcare-mediated disclosure of genetic risks to family members. However, this approach to disclosure warrants further investigation, as direct contact with patients' relatives remains a contentious issue. A broad discussion is needed on how to best cascade relevant genetic information to patients' family members, taking into account the perspectives of all key stakeholders.
基因检测和基因组检测往往不仅对接受检测的个体有影响,对其有血缘关系的亲属也有影响。本研究旨在描述公众对家族性遗传风险披露的态度。葡萄牙普通人群的一个样本(n = 1034)完成了一项在线调查,评估了对基因检测的偏好、遗传风险信息的接收以及与家庭成员分享此类信息的情况。结果显示,受访者强烈倾向于接收遗传风险信息并接受基因检测。对于应告知家庭成员遗传性疾病的患病风险并让其接受基因检测,也有广泛的共识。此外,参与者倾向于让医疗保健专业人员告知他们自己及其家庭成员遗传风险。我们的研究结果表明,人们广泛接受通过医疗保健途径向家庭成员披露遗传风险的可能性。然而,这种披露方式值得进一步研究,因为与患者亲属直接接触仍然是一个有争议的问题。需要进行广泛的讨论,以考虑所有关键利益相关者的观点,探讨如何以最佳方式将相关遗传信息传达给患者的家庭成员。