Janssens A Cecile J W, Aulchenko Yurii S, Elefante Stefano, Borsboom Gerard J J M, Steyerberg Ewout W, van Duijn Cornelia M
Erasmus MC, University Medical Center Rotterdam, The Netherlands.
Genet Med. 2006 Jul;8(7):395-400. doi: 10.1097/01.gim.0000229689.18263.f4.
There is ongoing debate about whether testing low-risk genes at multiple loci will be useful in clinical care and public health. We investigated the usefulness of multiple genetic testing using simulated data.
Usefulness was evaluated by the area under the receiver-operating characteristic curve (AUC), which indicates the accuracy of genetic profiling in discriminating between future patients and nonpatients. The AUC was investigated in relation to the number of genes assumed to be involved, the risk allele frequency, the odds ratio of the risk genotypes, and to the proportion of variance explained by genetic factors as an approximation of the heritability of the disease.
We demonstrated that a high (AUC > 0.80) to excellent discriminative accuracy (AUC > 0.95) can be obtained by simultaneously testing multiple susceptibility genes. A higher discriminative accuracy is obtained when genetic factors play a larger role in the disease, as indicated by the proportion of explained variance. The maximum discriminative accuracy of future genetic profiling can be estimated at present from the heritability and prevalence of disease.
Genetic profiling may have the potential to identify individuals at higher risk of disease depending on the prevalence and heritability of the disease.
关于在多个位点检测低风险基因在临床护理和公共卫生中是否有用，目前仍存在争议。我们使用模拟数据研究了多重基因检测的有用性。
通过受试者操作特征曲线（AUC）下的面积来评估有用性，该曲线表明基因谱在区分未来患者和非患者方面的准确性。研究了AUC与假定涉及的基因数量、风险等位基因频率、风险基因型的优势比以及作为疾病遗传度近似值的遗传因素解释的方差比例之间的关系。
我们证明，通过同时检测多个易感基因，可以获得高（AUC>0.80）到优异（AUC>0.95）的判别准确性。如解释方差比例所示，当遗传因素在疾病中起更大作用时，可获得更高的判别准确性。目前，可以根据疾病的遗传度和患病率估计未来基因谱的最大判别准确性。
根据疾病的患病率和遗传度，基因谱分析可能有潜力识别出疾病风险较高的个体。
