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个性化参与式医学:分享知识与不确定性。

Personalized participatory medicine: sharing knowledge and uncertainty.

机构信息

Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel.

出版信息

Genome Med. 2011 Oct 27;3(10):69. doi: 10.1186/gm285.

DOI:10.1186/gm285
PMID:22035871
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3239231/
Abstract

Informing patients about risks and benefits of alternative treatment options and choosing between them is becoming a bigger challenge as knowledge about the relationship between the individual's genetic profile and the efficacy and safety of available medications accumulates. Putting personalized medicine into practice requires new modes of information sharing and decision making by patient and physician. This is illustrated by a case study on treatment choices of breast cancer patients following genotyping for CYP2D6, recently published in Genome Medicine.See research article: http://genomemedicine.com/content/3/10/64.

摘要

随着关于个体基因谱与现有药物疗效和安全性之间关系的知识不断积累,向患者告知替代治疗方案的风险和益处并在其中进行选择正变得越来越具有挑战性。将个性化医学付诸实践需要患者和医生采用新的信息共享和决策模式。最近在《基因组医学》杂志上发表的一篇关于 CYP2D6 基因分型后乳腺癌患者治疗选择的病例研究说明了这一点。参见研究文章:http://genomemedicine.com/content/3/10/64。

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Conveying genomic recurrence risk estimates to patients with early-stage breast cancer: oncologist perspectives.向早期乳腺癌患者传递基因组复发风险估计:肿瘤学家的观点。
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本文引用的文献

1
Pharmacogenetic testing affects choice of therapy among women considering tamoxifen treatment.药物遗传学检测会影响考虑他莫昔芬治疗的女性对治疗方案的选择。
Genome Med. 2011 Oct 4;3(10):64. doi: 10.1186/gm280.
2
Increasing tamoxifen dose in breast cancer patients based on CYP2D6 genotypes and endoxifen levels: effect on active metabolite isomers and the antiestrogenic activity score.根据 CYP2D6 基因型和依西美坦水平增加乳腺癌患者的他莫昔芬剂量:对活性代谢物异构体和抗雌激素活性评分的影响。
Clin Pharmacol Ther. 2011 Oct;90(4):605-11. doi: 10.1038/clpt.2011.153. Epub 2011 Sep 7.
3
Genomics and drug response.基因组学与药物反应。
N Engl J Med. 2011 Mar 24;364(12):1144-53. doi: 10.1056/NEJMra1010600.
4
Endoxifen, a new cornerstone of breast cancer therapy: demonstration of safety, tolerability, and systemic bioavailability in healthy human subjects.依西美坦,乳腺癌治疗的新基石:在健康人体受试者中证明安全性、耐受性和全身生物利用度。
Clin Pharmacol Ther. 2010 Dec;88(6):814-7. doi: 10.1038/clpt.2010.196. Epub 2010 Oct 27.
5
Potent CYP2D6 Inhibiting drugs do not increase relapse rate in early breast cancer patients treated with adjuvant tamoxifen.强效 CYP2D6 抑制剂不会增加接受辅助他莫昔芬治疗的早期乳腺癌患者的复发率。
Breast Cancer Res Treat. 2011 Jan;125(2):505-10. doi: 10.1007/s10549-010-1008-7. Epub 2010 Jul 1.
6
Cytochrome P450 2D6 and outcomes of adjuvant tamoxifen therapy: results of a meta-analysis.细胞色素 P450 2D6 与辅助他莫昔芬治疗结局:荟萃分析结果。
Breast Cancer Res Treat. 2010 Aug;122(3):609-17. doi: 10.1007/s10549-010-0902-3. Epub 2010 May 8.
7
Clinical assessment incorporating a personal genome.纳入个人基因组的临床评估。
Lancet. 2010 May 1;375(9725):1525-35. doi: 10.1016/S0140-6736(10)60452-7.
8
Association between CYP2D6 polymorphisms and outcomes among women with early stage breast cancer treated with tamoxifen.CYP2D6基因多态性与接受他莫昔芬治疗的早期乳腺癌女性患者预后之间的关联。
JAMA. 2009 Oct 7;302(13):1429-36. doi: 10.1001/jama.2009.1420.
9
The impact of cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen.细胞色素P450 2D6代谢对接受他莫昔芬辅助治疗的女性的影响。
Breast Cancer Res Treat. 2007 Jan;101(1):113-21. doi: 10.1007/s10549-006-9428-0. Epub 2006 Nov 18.
10
Pharmacogenetics in the laboratory and the clinic.实验室及临床中的药物遗传学
N Engl J Med. 2003 Feb 6;348(6):553-6. doi: 10.1056/NEJMe020173.