Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA.
Genet Med. 2009 Aug;11(8):559-67. doi: 10.1097/GIM.0b013e3181b13a6c.
The increasing availability of personal genomic tests has led to discussions about the validity and utility of such tests and the balance of benefits and harms. A multidisciplinary workshop was convened by the National Institutes of Health and the Centers for Disease Control and Prevention to review the scientific foundation for using personal genomics in risk assessment and disease prevention and to develop recommendations for targeted research. The clinical validity and utility of personal genomics is a moving target with rapidly developing discoveries but little translation research to close the gap between discoveries and health impact. Workshop participants made recommendations in five domains: (1) developing and applying scientific standards for assessing personal genomic tests; (2) developing and applying a multidisciplinary research agenda, including observational studies and clinical trials to fill knowledge gaps in clinical validity and utility; (3) enhancing credible knowledge synthesis and information dissemination to clinicians and consumers; (4) linking scientific findings to evidence-based recommendations for use of personal genomics; and (5) assessing how the concept of personal utility can affect health benefits, costs, and risks by developing appropriate metrics for evaluation. To fulfill the promise of personal genomics, a rigorous multidisciplinary research agenda is needed.
个人基因组检测的日益普及引发了关于此类检测的有效性和实用性以及利益和危害平衡的讨论。美国国立卫生研究院和疾病控制与预防中心召集了一个多学科研讨会，审查了在风险评估和疾病预防中使用个人基因组学的科学基础，并为有针对性的研究制定了建议。个人基因组学的临床有效性和实用性是一个不断变化的目标，随着快速发展的发现，将发现与健康影响之间的差距缩小的转化研究却很少。研讨会参与者在五个领域提出了建议：（1）制定和应用评估个人基因组测试的科学标准；（2）制定和应用多学科研究议程，包括观察性研究和临床试验，以填补临床有效性和实用性方面的知识空白；（3）加强对临床医生和消费者的可信知识综合和信息传播；（4）将科学发现与基于证据的个人基因组学使用建议联系起来；（5）通过开发适当的评估指标，评估个人效用的概念如何通过影响健康效益、成本和风险。为了实现个人基因组学的承诺，需要一个严格的多学科研究议程。
