Janssens A C J W, Wilde A A M, van Langen I M
Neth Heart J. 2011 Feb;19(2):85-88. doi: 10.1007/s12471-010-0069-x. Epub 2011 Jan 15.
Expectations are high that increasing knowledge of the genetic basis of cardiovascular disease will eventually lead to personalised medicine-to preventive and therapeutic interventions that are targeted to at-risk individuals on the basis of their genetic profiles. Most cardiovascular diseases are caused by a complex interplay of many genetic variants interacting with many non-genetic risk factors such as diet, exercise, smoking and alcohol consumption. Since several years, genetic susceptibility testing for cardiovascular diseases is being offered via the internet directly to consumers. We discuss five reasons why these tests are not useful, namely: (1) the predictive ability is still limited; (2) the risk models used by the companies are based on assumptions that have not been verified; (3) the predicted risks keep changing when new variants are discovered and added to the test; (4) the tests do not consider non-genetic factors in the prediction of cardiovascular disease risk; and (5) the test results will not change recommendations of preventive interventions. Predictive genetic testing for multifactorial forms of cardiovascular disease clearly lacks benefits for the public. Prevention of disease should therefore remain focused on family history and on non-genetic risk factors as diet and physical activity that can have the strongest impact on disease risk, regardless of genetic susceptibility.
人们寄予厚望的是，对心血管疾病遗传基础了解的不断增加最终将带来个性化医疗——即基于高危个体的基因图谱进行预防和治疗干预。大多数心血管疾病是由许多基因变异与许多非基因风险因素（如饮食、运动、吸烟和饮酒）之间复杂的相互作用引起的。几年以来，心血管疾病的基因易感性检测通过互联网直接向消费者提供。我们讨论了这些检测无用的五个原因，即：（1）预测能力仍然有限；（2）公司使用的风险模型基于未经证实的假设；（3）当发现新的变异并添加到检测中时，预测风险不断变化；（4）检测在预测心血管疾病风险时未考虑非基因因素；（5）检测结果不会改变预防干预的建议。对多因素形式的心血管疾病进行预测性基因检测显然对公众没有益处。因此，疾病预防应继续侧重于家族病史以及对疾病风险影响最大的非基因风险因素，如饮食和体育活动，而不论基因易感性如何。
