Moroi Sayoko E, Raoof Duna A, Reed David M, Zöllner Sebastian, Qin Zhaohui, Richards Julia E
Associate Professor, Department of Ophthalmology and Visual Sciences, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
Expert Rev Ophthalmol. 2009 Apr;4(2):145-161. doi: 10.1586/eop.09.6.
How will you respond when a patient asks, "Doctor, what can I do to prevent myself from going blind from glaucoma like mom?". There is optimism that genetic profiling will help target patients to individualized treatments based on validated disease risk alleles, validated pharmacogenetic markers and behavioral modification. Personalized medicine will become a reality through identification of disease and pharmacogenetic markers, followed by careful study of how to employ this information in order to improve treatment outcomes. With advances in genomic technologies, research has shifted from the simple monogenic disease model to a complex multigenic and environmental disease model to answer these questions. Our challenges lie in developing risk models that incorporate gene-gene interactions, gene copy-number variations, environmental interactions, treatment effects and clinical covariates.
当患者问“医生，我怎么做才能像我妈妈那样预防因青光眼而失明？”时，你会如何回答？人们乐观地认为，基因分析将有助于根据经过验证的疾病风险等位基因、经过验证的药物遗传学标记和行为改变，为患者提供个性化治疗。通过识别疾病和药物遗传学标记，然后仔细研究如何利用这些信息来改善治疗效果，个性化医疗将成为现实。随着基因组技术的进步，研究已从简单的单基因疾病模型转向复杂的多基因和环境疾病模型来回答这些问题。我们面临的挑战在于开发包含基因-基因相互作用、基因拷贝数变异、环境相互作用、治疗效果和临床协变量的风险模型。
