Kurnat-Thoma Emma L
Resaerch Services, URAC, Washington, DC, USA.
Annu Rev Nurs Res. 2011;29:27-54. doi: 10.1891/0739-6686.29.27.
Scientific advances in genetics and genomics will be incorporated into health care soon. The tailoring of treatment to an individual's genetic make up has been termed personalized medicine. These advances are promising and are receiving significant attention; however, many nurses are caught in the gap between technologic advances and clinical diffusion and uptake. Aiming to reduce this gap, this chapter provides an overview of the science driving personalized medicine, outlines areas of research and clinical translation where nurses may expect to see its fruits, and briefly identifies obstacles preventing its full realization. Four scientific elements of personalized medicine are described: (1) discovery of novel biology that guides clinical translation mechanisms, (2) genetic risk assessment, (3) molecular diagnostic technology, and (4) pharmacogenetics and pharmacogenomics. Successful design and implementation of Personalized Medicine will hinge on the roles of nurses conducting or participating in collaborative initiatives that are furthering genetic/genomic applications within these contexts.
遗传学和基因组学方面的科学进展将很快融入医疗保健领域。根据个体基因构成定制治疗方案被称为个性化医疗。这些进展前景广阔，备受关注；然而，许多护士陷入了技术进步与临床推广应用之间的差距之中。为了缩小这一差距，本章概述了推动个性化医疗的科学，概述了护士有望看到其成果的研究和临床转化领域，并简要指出了阻碍其全面实现的障碍。文中描述了个性化医疗的四个科学要素：（1）指导临床转化机制的新生物学发现，（2）遗传风险评估，（3）分子诊断技术，以及（4）药物遗传学和药物基因组学。个性化医疗的成功设计与实施将取决于护士在开展或参与协作计划中所扮演的角色，这些计划正在推动这些背景下的基因/基因组应用。
