Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
Pathology. 2013 Jun;45(4):357-70. doi: 10.1097/PAT.0b013e328360b66e.
Understanding human genetic variation and how it impacts on gene function is a major focus in genomic-based research. Translation of this knowledge into clinical care is exemplified by pharmacogenetics/pharmacogenomics. The identification of particular gene variants that might influence drug uptake, metabolism, distribution or excretion promises a more effective personalised medicine approach in choosing the right drug or its dose for any particular individual. Adverse drug responses can then be avoided or mitigated. An understanding of germline or acquired (somatic) DNA mutations can also be used to identify drugs that are more likely to be therapeutically beneficial. This represents an area of growing interest in the treatment of cancer.
了解人类遗传变异以及它如何影响基因功能是基于基因组的研究的主要重点。将这方面的知识转化为临床护理的范例是药物遗传学/药物基因组学。鉴定可能影响药物摄取、代谢、分布或排泄的特定基因变体有望为任何特定个体选择正确的药物或其剂量提供更有效的个体化医学方法。然后可以避免或减轻药物不良反应。对种系或获得性(体细胞)DNA 突变的了解也可用于识别更可能具有治疗益处的药物。这是癌症治疗中日益关注的领域。