为什么不是药一刀切?

In March 2022, news broke that the human genome had finally been fully sequenced. This discovery added 200 million missing base pairs to the map — DNA technology from 20 years ago couldn’t reach. Researchers don’t know yet what they’ll find in the unearthed data. But our genes have already helped us navigate so much of the world: They’re helping scientists make new biofuels, police identify suspects based on crime scene evidence, and doctors predict how people will respond to medicines on a molecular level. That tailored approach is known as precision medicine — and it could help countless people who haven’t seen relief from standard treatments. There’s a long voyage ahead to perfecting it. But now we have a map to help answer an important question:

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Why isn’t medicine one size fits all?

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To understand where we are with precision medicine, we first need to understand the human genome.

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Howard Jacob: The genome is another way of saying a human blueprint.

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Your genome is you: 3 billion base pairs of DNA that all live in your cells. If you stretched out the DNA in just one cell, it would measure about 2 meters tall — or roughly one Blackbeard the Pirate.

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Even though we’re made of more than 3 billion base pairs of DNA, humans are, genetically, 99.9% identical.

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But those 3 million unique pairs — just point one percent — account for things like hair color, if you’d make a good basketball player, or even the diseases we’re more likely to get.

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Howard Jacob: It's the blueprint for each cell. It's the blueprint of what makes you who you are. It gives you your characteristics.

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That’s Dr. Howard Jacob, Head of Genomic Research at AbbVie. Who, of course, has sequenced his own genome.

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Howard Jacob: There's 50 different medications that are modified or I can't take because of my DNA. And that's kind of an important piece of information, right?

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In some cases, I actually will metabolize it faster, which means my body chews it up. So the dose I take is actually not the dose that my body sees.

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So how does that help a patient dealing with a complex illness?

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Sunhwa Kim: When our loved ones are sick, what we want is medicine works for them, medicine delivers benefits for them, how they feel, how they function. That's precision.

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Precision medicine, what that means is, tailored treatment for patients. Deeply understand disease, patient, and treatment.

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We are identifying different types of biomarkers to really bring the right medicine to the right patient at the right time.

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By looking at our genes and not just symptoms, we can see more than the disease in its current stage.

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We hope to see where it’s going — and how to treat it.

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Sunhwa Kim: Precision medicine is building our data, our knowledge, how patients are responding for medicine, how disease is responding for those medicines.

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So ultimately, what we are looking for - clinical data and biomarkers beautifully assemble each other, and in the end, make one nice picture for patients.

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Because in order to know how treatments will affect a huge group of people, you need a huge group of data.

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The tools that make that science possible exist at AbbVie today.

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Howard Jacob: One of the things I'm very excited about is we have a million genomes. And that's an amazing amount of data.

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And so we have the ability now to go in and start asking questions at a large scale.

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A blueprint, large number of patients that we have information on, and now having clinical trials where we can get that information. That triangulation between those gives us an amazing power to understand disease and how to build better medicines.

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Let’s go back to the genome news again. A mapped genome is just the first step. The puzzle is how to use this information best.

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Which goes to show: Like the ocean around us, there’s still so much to understand about our genes.

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Sunhwa Kim: Science still is evolving. …

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I want to be part of this journey for the patients who are not responding the existing medicines, who are partially responding, because ultimately, the lingering disease, because they are not responding fully, will drive them to the certain point where we cannot treat them anymore. So solving puzzle, it's exciting.

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In other words: The more we know about ourselves, the more precise our medicine can be. And as more people share their genetic maps, the closer we get to understanding who we are.

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All 3 billion base pairs of us.

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2022年3月,消息传出,人类基因组终于被完全测序。这个发现增加了2亿个碱基对缺失映射——从20年前 DNA技术无法达到。研究人员还不知道他们会找到什么出土的数据。但是我们的基因已经帮助我们浏览的世界:他们帮助科学家做出新的生物燃料,警方确定嫌疑人基于犯罪现场证据,和医生预测人们将如何应对药物在分子水平。定制的方法被称为精密医学- - -它能帮助无数人没见过标准治疗。有很长的旅程提前完善它。但是现在我们有一个地图来帮助回答一个重要问题:

为什么不是药一刀切?

理解与精密医学,我们首先需要理解人类基因组。

霍华德·雅各:人类基因组的另一种说法是一个蓝图。

基因组是你:30亿个碱基对都生活在你的细胞的DNA。如果你伸出的DNA只有一个细胞,它将测量约2米高,或者约一个黑胡子海盗。

虽然我们做的超过30亿个碱基对的DNA,人类基因,99.9%相同。

但这300万独特的双-点百分之一占头发的颜色,如果你能做一个很好的篮球运动员,甚至我们更容易得到疾病。

霍华德·雅各:每个单元的蓝图。的蓝图是什么让你你是谁。它给你的特点。

这是霍华德·雅各布博士AbbVie基因组的研究主管。当然,他有他自己的基因组测序。

霍华德·雅各:50个不同的药物被修改或我不能因为我的DNA。这是一种重要的信息,对吗?

在某些情况下,我将代谢更快,这意味着我的身体嚼起来。所以剂量我不是我的身体看到的剂量。

所以如何帮助病人处理复杂的疾病呢?

Sunhwa金:我们所爱的人生病时,我们想要的是医学,医学提供好处,他们的感受,他们如何函数。的精度。

精密医学,这意味着,量身定制的治疗病人。深入理解疾病、病人和治疗。

我们识别不同类型的生物标志物真正带来正确的药物在正确的时间正确的病人。

通过观察我们的基因,而不是症状,我们可以看到超过该疾病目前的阶段。

我们希望看到的,和如何对待它。

Sunhwa金:精密医学是建立我们的数据,我们所知,患者是如何反应的药物,疾病是如何反应的药物。

所以,最终,我们正在寻找——临床数据和生物标志物漂亮组装,最后,对病人做一个漂亮的图画。

因为为了知道治疗会影响巨大的一群人,你需要一个大组的数据。

的工具,使科学成为可能存在AbbVie今天。

霍华德·雅各:我很兴奋的一件事是我们有一百万的基因组。这是一个神奇的数据量。

现在我们有能力去在大规模,开始问问题。

一个蓝图,大量的病人信息,现在有临床试验,我们可以得到这些信息。三角之间那些给了我们一种神奇的力量,能够更好的理解疾病和如何构建药品。

让我们回到基因组新闻了。绘制基因组只是第一步。难题是如何使用这些信息最好。

这显示:就像我们周围的海洋,还有这么多理解我们的基因。

Sunhwa金:科学仍然是发展的。…

我想成为这个旅程的一部分患者不应对现有的药物,部分回应,因为最终,挥之不去的疾病,因为他们没有完全反应,将推动他们去某些地方我们不能对待他们了。所以解决难题,这是令人兴奋的。

换句话说:我们知道越多,我们更精确的医学。和更多的人分享他们的基因地图,我们越接近了解我们是谁。

我们所有的30亿个碱基对。