van Oostrom Iris, Meijers-Heijboer Hanne, Duivenvoorden Hugo J, Bröcker-Vriends Annette H J T, van Asperen Christi J, Sijmons Rolf H, Seynaeve Caroline, Van Gool Arthur R, Klijn Jan G M, Riedijk Samantha R, van Dooren Silvia, Tibben Aad
Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Westzeedijk 114, 3016 AH Rotterdam, The Netherlands.
Psychooncology. 2007 Apr;16(4):320-8. doi: 10.1002/pon.1062.
This study assessed the impact of genetic testing for cancer susceptibility on family relationships and determinants of adverse consequences for family relationships. Applicants for genetic testing of a known familial pathogenic mutation in BRCA1/2 or a HNPCC related gene (N=271) rated the prevalence and nature of changes in family relationships, familial difficulties and conflicts due to genetic testing 6 months after receiving the test result. The level of family functioning, differentiation from parents, support and familial communication style regarding hereditary cancer were assessed before receiving the test result. Genetic testing affected some family relationships in a positive way (37%), i.e. by feeling closer, improved communication and support, more appreciation of the relative and relief of negative test result. A minority reported unwanted changes in relationships (19%), problematic situations (13%) or conflicts (4%). Adverse effects comprised feelings of guilt towards children and carrier siblings, imposed secrecy and communication problems. Predictors of adverse consequences on family relationships were reluctance to communicate about hereditary cancer with relatives and disengaged-rigid or enmeshed-chaotic family functioning. Open communication between relatives should be stimulated because a lack of open communication may be an important determinant of familial adverse effects.
本研究评估了癌症易感性基因检测对家庭关系的影响以及家庭关系不良后果的决定因素。对已知BRCA1/2家族致病突变或HNPCC相关基因进行基因检测的申请者（N = 271）在收到检测结果6个月后，对家庭关系变化的发生率和性质、因基因检测导致的家庭困难和冲突进行了评分。在收到检测结果之前，评估了家庭功能水平、与父母的分化程度、支持情况以及关于遗传性癌症的家庭沟通方式。基因检测对一些家庭关系产生了积极影响（37%），即感觉关系更亲密、沟通和支持得到改善、对亲属的感激之情增加以及阴性检测结果带来的宽慰。少数人报告了关系中出现的不良变化（19%）、问题情况（13%）或冲突（4%）。不良影响包括对子女和携带致病基因的兄弟姐妹感到内疚、被迫保密和沟通问题。家庭关系产生不良后果的预测因素是不愿与亲属谈论遗传性癌症以及疏离僵化或纠缠混乱的家庭功能。应鼓励亲属之间进行开放沟通，因为缺乏开放沟通可能是家庭产生不良影响的一个重要决定因素。
