Janssens A Cecile Jw, van Duijn Cornelia M
Department of Epidemiology, Erasmus University Medical Center Rotterdam, the Netherlands.
Investig Genet. 2010 Oct 4;1(1):10. doi: 10.1186/2041-2223-1-10.
Personal genome testing is offered via the internet directly to consumers. Most tests that are currently offered use data from genome-wide scans to predict risks for multiple common diseases and traits. The utility of these tests is limited, predominantly because they lack predictive ability and clear benefits for disease prevention that are specific for genetic risk groups. In the near future, personal genome tests will likely be based on whole genome sequencing, but will these technological advances increase the utility of personal genome testing? Whole genome sequencing theoretically provides information about the risks of both monogenic and complex diseases, but the practical utility remains to be demonstrated. The utility of testing depends on the predictive ability of the test, the likelihood of actionable test results, and the options available for the reduction of risks. For monogenic diseases, the likelihood of known mutations will be extremely low in the general population and it will be a challenge to recognize new causal variants among all rare variants that are found using sequencing. For complex diseases, the predictive ability of genetic tests will be mainly restricted by the heritability of the disease, but also by the genetic complexity of the disease etiology, which determines the extent to which the heritability can be understood. Given that numerous genetic and non-genetic risk factors interact in the causation of complex diseases, the predictive ability of genetic models will likely remain modest. Personal genome testing will have minimal benefits for individual consumers unless major breakthroughs are made in the near future.
个人基因组检测通过互联网直接提供给消费者。目前提供的大多数检测使用全基因组扫描数据来预测多种常见疾病和性状的风险。这些检测的效用有限，主要是因为它们缺乏针对特定遗传风险群体的疾病预防预测能力和明确益处。在不久的将来，个人基因组检测可能会基于全基因组测序，但这些技术进步会提高个人基因组检测的效用吗？全基因组测序理论上提供了单基因疾病和复杂疾病风险的信息，但实际效用仍有待证明。检测的效用取决于检测的预测能力、可采取行动的检测结果的可能性以及降低风险的可用选项。对于单基因疾病，已知突变在普通人群中的可能性极低，并且在通过测序发现的所有罕见变异中识别新的致病变异将是一项挑战。对于复杂疾病，基因检测的预测能力将主要受到疾病遗传度的限制，也受到疾病病因遗传复杂性的限制，而疾病病因的遗传复杂性决定了遗传度可被理解的程度。鉴于众多遗传和非遗传风险因素在复杂疾病的病因中相互作用，基因模型的预测能力可能仍然有限。除非在不久的将来取得重大突破，否则个人基因组检测对个体消费者的益处将微乎其微。
