Clinical Genetics Service, Department of Medicine, Program in Cancer Biology and Genetics, Sloan-Kettering Institute, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA.
Hum Genet. 2011 Jul;130(1):3-14. doi: 10.1007/s00439-011-1028-3. Epub 2011 Jun 26.
Personalized medicine uses traditional, as well as emerging concepts of the genetic and environmental basis of disease to individualize prevention, diagnosis and treatment. Personalized genomics plays a vital, but not exclusive role in this evolving model of personalized medicine. The distinctions between genetic and genomic medicine are more quantitative than qualitative. Personalized genomics builds on principles established by the integration of genetics into medical practice. Principles shared by genetic and genomic aspects of medicine, include the use of variants as markers for diagnosis, prognosis, prevention, as well as targets for treatment, the use of clinically validated variants that may not be functionally characterized, the segregation of these variants in non-Mendelian as well as Mendelian patterns, the role of gene--environment interactions, the dependence on evidence for clinical utility, the critical translational role of behavioral science, and common ethical considerations. During the current period of transition from investigation to practice, consumers should be protected from harms of premature translation of research findings, while encouraging the innovative and cost-effective application of those genomic discoveries that improve personalized medical care.
个体化医学利用疾病遗传和环境基础的传统和新兴概念来实现预防、诊断和治疗的个体化。个体化基因组学在这一不断发展的个体化医学模式中起着至关重要但并非排他的作用。遗传医学和基因组医学之间的区别更多是数量上的，而非性质上的。个体化基因组学建立在将遗传学纳入医学实践的原则基础之上。医学遗传和基因组学方面共有的原则包括：将变体用作诊断、预后、预防以及治疗靶点的标志物；使用临床验证的、可能未功能表征的变体；以非孟德尔和孟德尔模式分离这些变体；基因-环境相互作用的作用；对临床实用性证据的依赖；行为科学的关键转化作用；以及共同的伦理考虑。在从研究向实践过渡的当前阶段，应保护消费者免受过早转化研究结果的危害，同时鼓励创新和具有成本效益地应用那些改善个体化医疗的基因组发现。
