演讲题目：The Life-Saving Secrets in Your Baby’s DNA

演讲简介：

倘若我们能够在婴儿出生之时就提前知晓一些严重的健康问题吗？比如，在这些问题尚未显现之前就有所察觉？在这一具有开创性的演讲中，遗传学家兼医生罗伯特·C·格林分享了他所在的团队如何成为全球首个对健康新生儿的 DNA 进行全面测序和分析的团队，从而揭示了可治疗疾病的潜在风险。他说道，医学的未来不仅在于治愈疾病，还在于预测和预防疾病。

中英文字幕

So, on April 22nd, 2015, a 4-day old baby girl in Boston, let's call her baby Maria,

2015年4月22日，波士顿一个4天大的女婴，我们叫她的宝宝玛丽亚吧，

became the first healthy infant in human history to have her genome comprehensively sequenced,

成为人类历史上第一个进行基因组全面测序的健康婴儿，

comprehensively analyzed as part of a clinical controlled trial in preventive genomics.

作为预防基因组学临床对照试验的一部分，进行了全面分析。

Now, why is this important?

现在，为什么这很重要？

It's great to be first, but it's important because when children are ill, everybody's upset.

能成为第一个很好，但这很重要，因为当孩子们生病时，每个人都很难过。

But when children remain ill and doctors can't figure out what's going on, well,

但当孩子们仍然生病而医生无法弄清楚发生了什么时，嗯，

that casts their parents into a diagnostic odyssey that can take years and be incredibly agonizing.

这让他们的父母陷入了一场诊断奥德赛，这可能需要数年时间，而且极其痛苦。

It can create all sorts of misunderstanding, misdiagnosis and mismanagement.

它会造成各种误解、误诊和管理不善。

Now, sometimes those children will go on to get genetic testing and sometimes they'll find an answer and sometimes those answers mean that you can treat the child,

现在，有时这些孩子会继续接受基因检测，有时他们会找到答案，有时这些答案意味着你可以治疗孩子，

but by then it can be too late.

但到那时可能已经太晚了。

The damage is permanent.

损害是永久性的。

This is particularly tragic

这尤其悲惨，

because there are so many treatable genetic conditions today and they're going to be even more with gene editing, cell and gene therapies.

因为如今有许多可治疗的遗传性疾病，而且随着基因编辑、细胞和基因疗法的发展，这类疾病将会变得更加容易治疗。

In fact, it's been suggested that over 90% of genetic conditions will be treatable in the next few years with gene editing.

事实上，有研究表明，超过90%的遗传疾病将在未来几年内通过基因编辑可以治疗。

So the key to this is obviously finding these children early, actually analyzing their DNA at or shortly after birth.

因此，关键显然是尽早找到这些孩子，在出生时或出生后不久实际分析他们的DNA。

And so 10 years ago, I pulled together a team at Harvard Medical School, Mass General Bighgam, Broad Institute, Ariadne Labs,

因此，10年前，我在哈佛医学院、马萨诸塞州总医院比格根、布罗德研究所、阿里阿德涅实验室组建了一个团队，

and got together with a brilliant group of co-leaders, Alan Begs, Amy Maguire, Heidi Ree, and Ingred Holm.

并与艾伦·贝格斯、艾米·马奎尔、海蒂·雷和英格丽德·霍尔姆等杰出的联合领导人聚集在一起。

and together we launched the Baby Seek or Baby Sequencing Project, the world's first trial of newborn genomic sequencing.

我们一起启动了Baby Seek/Baby测序项目，这是世界上第一个新生儿基因组测序试验。

Now, when we presented this information at medical meetings, we didn't quite get the reaction we were hoping for.

现在，当我们在医学会议上介绍这些信息时，我们并没有完全得到我们希望的反应。

People were a guess.

人们只是猜想。

They thought we were going to do terrible medical things to these children.

他们认为我们会对这些孩子做可怕的医疗事情。

They thought there was going to be catastrophic psychological distress and they thought we're going to spend all sorts of money.

他们认为将会出现灾难性的心理困扰，他们认为我们会花各种各样的钱。

So, we've spent 10 years exquisitely studying the medical, behavioral, and economic impact of newborn genetic sequencing.

我们花了10年的时间仔细研究新生儿基因测序对医学、行为和经济的影响。

We don't have all the answers yet, but I have to tell you that what we've discovered so far is pretty reassuring.

我们还没有得到所有答案，但我必须告诉你，到目前为止我们的发现非常令人放心。

Now what was really surprising about this was what we found in these normal babies.

真正令人惊讶的是我们在这些正常婴儿身上发现的情况。

If you take let's say 400 genes which represent conditions that are treatable today absolutely treatable in about a thousand families,

如果你选择400个基因，这些基因代表了今天可以治疗的疾病，在大约一千个家庭中绝对可以治疗，

we found mutations in those genes in about 4% of these babies. 4%.

我们在大约4%的婴儿中发现了这些基因突变。4%。

And if you expanded that gene list to be, let's say, 5,000 genes long, and that includes conditions that aren't treatable yet,

如果你将基因列表扩展到5000个基因，其中包括尚未治疗的疾病，

conditions that maybe attack you in adulthood, we found an incredible 12% of these babies were carrying such mutations.

这些疾病可能会在成年后攻击你，但我们发现这些婴儿中有12%携带此类突变。

Now remember that doesn't mean that all of these children are going to get the disease.

现在请记住，这并不意味着所有这些孩子都会感染这种疾病。

But it does mean that if you know the risk that the children have,

但这确实意味着，如果你知道孩子们面临的风险，

then your pediatrician and your family can be on the lookout for vague symptoms that would otherwise be overlooked.

那么您的儿科医生和您的家人就可以留意那些原本会被忽视的模糊症状。

This isn't a small problem.

这不是一个小问题。

If this holds, that means in the United States there's over 400,000 babies a year that will carry these risk mutations.

如果这种情况成立，这意味着美国每年有超过40万婴儿携带这些风险突变。

And worldwide, that's over 15 million babies a year that will carry these risk mutations.

在全球范围内，每年有超过1500万婴儿携带这些风险突变。

It's kind of ironic, isn't it?

这有点讽刺，不是吗？

Because these are individually rare diseases.

因为这些都是个别罕见疾病。

Many of them you won't even have heard of, but together they are a massive medical problem.

其中许多你甚至没有听说过，但它们加在一起是一个巨大的医疗问题。

Let me let you hear from a couple of the baby seek mothers who've gone through this and hear what they have to say about the findings in their own children.

让我来听听几位经历过这种情况的婴儿寻找母亲的意见，听听他们对自己孩子的发现有何看法。

Now, this was baby Adam who had an elastin gene mutation which can be associated with a narrowed aorta.

现在，这是婴儿亚当，他患有弹性蛋白基因突变，这可能与主动脉狭窄有关。

Finding out that your newborn has a heart problem of all things is absolutely terrifying.

发现你的新生儿患有心脏病绝对令人恐惧。

Um, but knowing that we could be proactive gave us some peace of mind that we were doing everything we could do instead of being surprised down the road.

嗯，但知道我们可以积极主动给了我们一些平静的心态，我们正在做我们能做的一切，而不是在路上感到惊讶。

And in fact, after this mutation was found, a scan found that this baby's aorta was already mildly narrowed.

事实上，在发现这种突变后，扫描发现这个婴儿的主动脉已经轻度狭窄。

It can now be followed and treated if it gets worse.

如果病情恶化，现在可以进行跟踪和治疗。

Baby Kora, who's now almost 9 years old, was found to have mutations suggestive of biotinidase deficiency, a partial biotinidase deficiency,

宝宝科拉现在快9岁了，被发现患有暗示生物素酶缺乏症的突变，部分生物素酶缺乏症，

which is absolutely necessary for proper brain development.

这对于大脑的正常发育是绝对必要的。

So, she takes a simple dietary supplement every day that's kept her brain safe.

因此，她每天服用简单的膳食补充剂，以保证她的大脑安全。

We give her a daily vitamin to treat her enzyme deficiency.

我们每天给她服用维生素来治疗她的酶缺乏症。

We had to get creative at first, but now it's part of our routine.

一开始我们必须发挥创造力，但现在这是我们日常工作的一部分。

I'm just glad we discovered the conditions before there were any symptoms.

我很高兴我们在出现任何症状之前就发现了这些情况。

And baby Jacob was one of four children who had mutations that created a predisposition for pediatric or adult onset cancers.

宝宝雅各布是四个患有突变的儿童之一，这些突变导致儿童或成人癌症易感。

Now in his case the gene was BRCA2 or BRAA 2 and nobody in the family knew that it was present.

现在，在他的病例中，该基因是BRCA 2或BRAA 2，家里没有人知道它的存在。

When we found out we traced it back to his mother who was surprised but who could then take action.

当我们发现这一点时，我们追溯到他的母亲，她很惊讶，但随后可以采取行动。

It turns out that I ultimately was carrying a mutation.

事实证明，我最终携带了突变。

I had risk reducing and ultimately life-saving surgery and I believe it was the right decision so I could be present for my son.

我接受了降低风险并最终挽救生命的手术，我相信这是一个正确的决定，这样我就可以陪伴我的儿子。

So, how can we bring this to every family that wants this insight?

那么，我们如何才能将其带给每个想要这种见解的家庭呢？

Well, there is a newborn screening system around most of the world.

嗯，世界上大部分地区都有新生儿筛查系统。

It looks for in the United States up to 75 treatable conditions, mostly metabolic conditions.

它在美国寻找多达75种可治疗的疾病，其中大部分是代谢疾病。

But that system is overburdened, underresourced, and since 2008, it's only added nine new conditions.

但该系统负担过重、资源不足，自2008年以来，它只增加了9个新条件。

And as we've just said, there are several hundred treatable genetic conditions today.

正如我们刚才所说，当今有数百种可治疗的遗传疾病。

We're trying to work with these programs to bring genomics into them, but it's going to be very hard for them to keep up.

我们正在努力与这些项目合作，将基因组学纳入其中，但他们很难跟上。

Why are people so resistant?

为什么人们如此抗拒？

Why aren't we demanding this?

为什么我们不要求这个？

Well, part of the reason is human psychology, right?

嗯，部分原因是人类心理，对吧？

You bring home this perfect little baby and you don't really want to look for something that might be wrong,

你把这个完美的小宝宝带回家，你并不真的想寻找可能出错的东西，

even if intellectually you know it might be treatable.

即使你在智力上知道它可能是可以治疗的。

But we've got to get past that.

但我们必须克服这个问题。

The other reason is privacy concerns.

另一个原因是隐私问题。

And this is sort of ironic because privacy concerns are real.

这有点讽刺，因为隐私问题是真实存在的。

Your DNA is a biometric.

你的DNA是生物识别。

It's kind of like a fingerprint.

这有点像指纹。

There's certainly some law enforcement considerations, but if somebody steals my genome, they really can't make much of it.

当然，这也有一些执法方面的考虑，但如果有人偷了我的基因组，他们真的不能做太多。

Whereas if they steal my electronic footprint or your electronic footprint, there's a lot more harm that can be done.

然而，如果他们窃取了我或你的电子足迹，那么就会造成更多的伤害。

So I'm not saying we shouldn't be concerned about privacy.

所以我并不是说我们不应该担心隐私。

In fact, privacy is protected when you look for genomic information in a medical context,

事实上，当您在医学背景下寻找基因组信息时，隐私是受到保护的，

just like it's protected for your psychiatric history and your HIV status and so forth.

就像它受到您的精神病史和艾滋病毒状况等保护一样。

It's also been confusing to have direct to consumer genetic testing.

直接对消费者进行基因检测也令人困惑。

Now, these companies for the most part were very honest about what they offered,

现在，这些公司大部分都非常诚实地对待他们所提供的东西，

but they were not protected by these same legal protections as health care.

但他们没有受到与医疗保健相同的法律保护。

And typical direct to consumer companies use a technology called genotyping.

典型的直接面向消费者的公司使用一种名为基因分型的技术。

So, they're looking for various markers in the genome, which is good for ancestry and traits, but not so good for mutations.

他们正在基因组中寻找各种标记，这对血统和特征有利，但对突变不利。

For that you really need the sequencing every single letter of the DNA and that's 5,000 times more granular.

为此，你确实需要对DNA的每一个字母进行测序，而这是粒度的5000倍。

I also think there's a systematic or institutional resistance, right?

我还认为存在系统性或制度性阻力，对吧？

Because genomics is the tip of the spear for preventive care.

因为基因组学是预防保健的尖端。

It's really the first in a series of things that we need to bring in order to preserve our health.

这确实是我们为了保持健康而需要携带的一系列物品中的第一件。

multiomics, proteomics, transcrytoics, wearables,

多组学、蛋白质组学、跨细胞学、可穿戴设备、

all the exciting things we've heard about that will keep us well instead of simply treating us when we're sick.

所有我们听说过的令人兴奋的事情都能让我们保持健康，而不是简单地在我们生病时治疗我们。

Now, I'm happy to tell you that I've co-founded an international consortium on newborn sequencing.

现在，我很高兴地告诉你们，我已经与他人共同创立了一个关于新生儿测序的国际联盟。

It's grown to 27 groups around the world.

已发展到全球27个团体。

They're all doing this in different healthcare systems.

他们都在不同的医疗保健系统中这样做。

We get together, we compare notes, we share data.

我们聚在一起，我们交换笔记，我们分享数据。

It's really exciting.

这真的很令人兴奋。

I go to these annual meetings.

我参加这些年度会议。

It's the most exciting meeting I go to every year.

这是我每年参加的最激动人心的会议。

We feel like we're inventing an entirely new field of medicine.

我们感觉自己正在发明一个全新的医学领域。

But if we really want to invent the future, we've got to do something different.

但如果我们真的想创造未来，我们就必须做一些不同的事情。

If we really want to invent the future, we've got to realize that a child's DNA doesn't change over time, but the science is changing all the time.

如果我们真的想创造未来，我们必须意识到孩子的DNA不会随着时间的推移而改变，但科学却一直在改变。

And so what that means is we should sequence your child's DNA, and we should revisit and reanalyze that DNA over and over again,

这意味着我们应该对孩子的DNA进行测序，并且我们应该一遍又一遍地重新审视和重新分析该DNA，

to truly create the dream of genome informed medicine, because each and every year there will be new insights and new treatments available.

真正创造基因组信息医学的梦想，因为每年都会有新的见解和新的治疗方法可用。

Now, this isn't offered anywhere in the world, but I'm happy to tell you that we are trying to build this.

世界上任何地方都没有提供这一功能，但我很高兴地告诉您，我们正在努力建立它。

We are building an AI enhanced digital health platform so that you, your grandchildren, your children, your pediatricians, your health care centers,

我们正在建立一个人工智能增强的数字健康平台，这样你，你的孙子，你的孩子，你的儿科医生，你的医疗保健中心，

your employers, your nations can do this at scale.

你们的雇主、你们的国家可以大规模做到这一点。

It's going to take a certain amount of courage to change the way we think about disease,

改变我们对疾病的看法需要一定的勇气，

to embrace the knowledge of risk in order to preserve our health rather than waiting for us and our children to get sick and treating them there.

接受风险知识，以保护我们的健康，而不是等待我们和我们的孩子生病并在那里治疗他们。

If we can do this, if we can embrace this, we can save millions of lives and usher in an entirely new era of genome inspired medicine.

如果我们能够做到这一点，如果我们能够拥抱这一点，我们就可以拯救数百万人的生命，并开创一个全新的基因组启发医学时代。

Thank you.

谢谢。

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