Schneider Kai Insa, Schmidtke Jörg
Institute of Human Genetics, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany.
J Community Genet. 2014 Jan;5(1):31-48. doi: 10.1007/s12687-013-0160-2. Epub 2013 Aug 10.
For this literature review, medical literature data bases were searched for studies on patient compliance after genetic risk assessment. The review focused on conditions where secondary or tertiary preventive options exist, namely cancer syndromes (BRCA-related cancer, HNPCC/colon cancer), hemochromatosis, thrombophilia, smoking cessation, and obesity. As a counterpart, patient compliance was assessed regarding medication adherence and medical advice in some of the most epidemiologically important conditions (including high blood pressure, metabolic syndrome, and coronary heart disease) after receiving medical advice based on nongenetic risk information or a combination of genetic and nongenetic risk information. In the majority of studies based on genetic risk assessments, patients were confronted with predictive rather than diagnostic genetic profiles. Most of the studies started from a knowledge base around 10 years ago when DNA testing was at an early stage, limited in scope and specificity, and costly. The major result is that overall compliance of patients after receiving a high-risk estimate from genetic testing for a given condition is high. However, significant behavior change does not take place just because the analyte is "genetic." Many more factors play a role in the complex process of behavioral tuning. Without adequate counseling and guidance, patients may interpret risk estimates of predictive genetic testing with an increase in fear and anxiety.
在本次文献综述中,检索了医学文献数据库,以查找有关基因风险评估后患者依从性的研究。该综述聚焦于存在二级或三级预防措施的疾病,即癌症综合征(BRCA相关癌症、遗传性非息肉病性结直肠癌/结肠癌)、血色素沉着症、血栓形成倾向、戒烟和肥胖症。作为对比,在根据非基因风险信息或基因与非基因风险信息组合接受医疗建议后,评估了一些流行病学上最重要疾病(包括高血压、代谢综合征和冠心病)患者在药物依从性和医疗建议方面的依从情况。在大多数基于基因风险评估的研究中,患者面对的是预测性而非诊断性基因图谱。大多数研究始于约10年前的知识库,当时DNA检测尚处于早期阶段,范围和特异性有限且成本高昂。主要结果是,在针对特定疾病进行基因检测获得高风险评估后,患者的总体依从性较高。然而,仅仅因为分析物是“基因的”,并不会发生显著的行为改变。在行为调整的复杂过程中,还有更多因素发挥作用。如果没有充分的咨询和指导,患者可能会带着恐惧和焦虑的增加来解读预测性基因检测的风险评估。