Medicine. Racing forward: the Genomics and Personalized Medicine Act.

Medicine. Racing forward: the Genomics and Personalized Medicine Act.
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DOI:
10.1126/science.1165768
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发表时间:
2009-01-16
期刊:
Science (New York, N.Y.)
影响因子:
--
通讯作者:
Mudaliar A
Mudaliar A
中科院分区:
其他
文献类型:
--
作者:
Lee SS;Mudaliar A

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2006年,当时的美国参议员巴拉克·奥巴马提出了基因组学和个性化医学法案(GPMA),名称为S.3822(1),并在美国参议员理查德·伯尔(北卡罗来纳州共和党人)的共同赞助下,于2007年再次提出,名称为S.976(2)。该法案范围广泛,概述了加强政府监督和创造经济激励措施,以催化将研究转化为临床护理。然而,在从S.3822过渡到S.976的过程中,遗漏了将对人类遗传多样性的影响的考虑与旨在建立基因组医学基础设施的立法脱钩。这意味着错失了接触具有深刻科学、社会和伦理影响的关键问题的机会。对个体进行药物基因组测试可能会防止药物不良反应,拯救生命和金钱。然而,个性化医学仍然处于初级阶段,由种族和民族而不是个人识别的人群仍然是当前药物基因组学研究的重点,尽管人类学遗传学中的主导观点认为种族不能很好地预测基因。药物基因组学中的一个中心问题是,哪些群体具有更高频率的与药物代谢酶、药物转运体或药物靶标相关的等位基因。尽管科学家们建议,一旦发现相关表型的遗传标记,基因研究中的“种族”就会过时,但最近的发展反映了在努力将基础研究转化为临床实践时越来越多地使用种族类别(3,4)。
In 2006, then-US Senator Barack Obama introduced the Genomics and Personalized Medicine Act (GPMA) as S. 3822 (1) and again, with the cosponsorship of US Senator Richard Burr (R-North Carolina), in 2007 as S. 976 (2). Broad in scope, the bill outlines measures that bolster governmental oversight and create economic incentives to catalyze translation of research into clinical care. However, in the transition from S. 3822 to S. 976, there were omissions that decouple consideration of the implications of human genetic diversity from legislation aimed at building the infrastructure for genomic medicine. This represents a missed opportunity to engage critical issues with deep scientific, social, and ethical implications.Pharmacogenomic testing of individuals may prevent adverse drug reactions and save both lives and money. However, personalized medicine remains in its nascency, and populations identified by race and ethnicity, rather than individuals, remain the focus of current pharmacogenomic research despite the dominant view in anthropological genetics that race is a poor predictor of genotype. A central question in pharmacogenomics is which populations have greater frequencies of alleles associated with drug-metabolizing enzymes, drug transporters, or drug targets. Although scientists suggest that “race” in the context of genetic research will be rendered obsolete once genetic markers for the relevant phenotypes are found, recent developments reflect growing use of racial categories in efforts to translate basic research into clinical practice (3, 4).
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