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[AHA2011]AHA主席Gordon F. Tomaselli教授谈大会亮点与基因检测进展
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作者:GordonF.Tomaselli 编辑:国际循环网 时间:2011/11/21 16:31:00    加入收藏
 关键字:AHA2011 大会亮点 Gordon F. Tomaselli  心脏病预防 基因 

    <International Circulation>: How far are we away from that point?

  《国际循环》:我们距离那一点还有多远?
    Prof.Tomaselli:  At the rate of current progress, who knows? It is not going to be decades however. We will have a lot more information because broad genotyping will be done in a lot more people.

    Tomaselli教授:在目前的发展速度下,谁知道呢?但是不会用几十年的。广泛基因检测会在很多人之间进行,因此我们将会有很多信息。
    <International Circulation>: How far are we away from genotyping everyone?

  《国际循环》:我们离给每个人急性基因学检测还有多远?
    Prof.Tomaselli:  Having the capacity to do it in a reasonable way in terms of cost, probably not that far away. I can’t recall what it costs to sequence an individual’s DNA but it is not a lot of money; between $5000 and $10000 I think. That price is going to continue to come down and the question will be, what is the cost efficiency tipping point? However, it is not just sequencing the DNA; it is what you are going to do with the information. Three billion base pairs. You could just store that individual’s DNA sequence away and if something comes up like a marker for a disease that is definitive in a population then we could survey that person’s DNA and put them in a risk or not-at-risk category. The biggest use right now is in pharmacogenetics figuring out how people metabolize drugs and there are a number of examples of that in drugs that are used quite frequently such as clopidogrel and Coumadin. There are variants in metabolizing enzymes that have significant effects on the activity of those enzymes and they are useful to us right now.

    Tomaselli教授:距离能在合理花费下进行检测,可能已经不远了。我记不清对一个人进行DNA测序需要多少花费,但是用不了一大笔钱,我想大约5000-10000美元。这个价格还会继续降低,问题在于效价比的临界点在哪里、但是,这不仅是DNA测序,还有对测序信息进行的处理。包括300亿个碱基对。你可以储存一个人的DNA,如果在人群中出现了一种重要的标记物或者疾病,就可以对其DNA进行检测,来决定他是危险组或非危险组。目前最多的应用是药物基因组学方面,即计算出患者代谢药物的方式。这方面的应用已经有了一些先例,在氯吡格雷和华法林中已经广泛应用。在代谢酶方面的变异对酶的活性有很大影响,这些发现目前对我们都很有用。



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