基因编辑婴儿23个疑问,贺建奎回答了什么、回避了什么丨钛媒体万字实录
图片来源:视觉中国
11月28日中午,所有人都守在第二届国际基因峰会的会场或直播流前,等待贺建奎的出现。(钛媒体此前有文章详细报道→首例免疫艾滋病婴儿诞生,中国科学家引巨大争议和人类胚胎基因编辑之门已打开)
12:48分,这位争议巨大的人物站到了台上。这场原本定于11:30的演讲,整整推迟了一个多小时。
演讲开始前,贺建奎先做了一件事:道歉。但他并没有明确地表明道歉内容。他的原话是:
“我必须道歉,本次实验结果在未经本次研讨会同行学者审阅之前,被出乎意料地泄露了。”
贺建奎在接下来的演讲中透露,该研究报告已提交给一个科学期刊进行审查。而对于已经出生的双胞胎,贺表示,他将监测这对双胞胎的健康情况直至18岁,并希望在其成年后争取到她们的同意与支持。
演讲之后的讨论环节,贺建奎全程共被问到二十三个问题(实际上有些问题是一系列追问)。
“如何证明参与试验的夫妻明白其中的风险”?
在回答这个问题时,贺建奎多次提到参与试验的父母有良好的教育背景,并解释称,“我从第1页到第20页逐行逐段地解释。他们有权在知情同意过程中提出任何问题。完成了整个知情同意后,最后我给了他们一些时间进行私下讨论,这样他们就有了一些时间以夫妻身份进行讨论。他们还可以选择把它带回家,之后再决定。”
贺在演讲中也提到:已将潜在“脱靶”风险告知给这对夫妻,让他们自主选择是否接受这一基因编辑过后的胚胎。
关于该试验的资金来源,贺建奎表示其所在的公司既没有参与项目,也没有人员、空间和设备,“当我开始做实验的时候,我是一所大学的教授。三年前,我开始了这项工作,当时大学还在给我发工资。医疗服务和病人的经费由我自己支付。一些测序费用是由大学的创业基金支付的。”
钛媒体第一时间翻译了对话全文,我们发现,若干次提问贺建奎没有直接回答。比如这些:
你如何理解你对这些孩子的责任?最后一张幻灯片显示你将进行后续治疗。你对未来有什么责任?
首先,什么是对这些病人来说尤为重要的未被满足的医疗需求?其次,你用病人而不是科学家、医生和伦理学家所做的决定,证明了植入这些胚胎以创造人类妊娠的关键决定是合理的。作为科学家、医生和独立团体,我们有什么责任为病人做出决定,而不是让他们自己做出决定?
不能对胚胎进行基因编辑,这是包括中国在内的国际社会的共识。我想你知道这是一条红线。你为什么选择越过这条红线?你为什么秘密进行这些临床试验?
18岁前,他们都是孩子,并没有自主权。他们的基因型可能会影响他们的成长。这会影响他们或者他们父母的认知吗?
一个细节是,在进行到第五个问题时,主持人打断了问答环节。大会主席David Baltimore上台发表了一段声明(随后问答环节继续)。
David Baltimore首先感谢了贺建奎的到来与对质疑作出的回应,但他仍然强调,基因编辑婴儿是“不负责任的。”
David Baltimore 在声明中说:“我要感谢贺博士的到来,感谢他对我们提出的问题作出的回应。我仍然认为,我们在上次会议结束时所作的陈述,在有安全确保及全球社会的普遍共识前,任何临床基因编辑都是很不负责任的行为。我认为这不是一个透明的过程。孩子出生之后,我们才知道。我个人认为这在医学上没有必要性。今天早些时候听到的关于疾病选择的讨论比为一个人提供预防艾滋病毒感染的保护要紧迫得多。我认为科学界由于缺乏透明度而缺乏自律。这些话完全是代表我自己说的。组织这次会议的委员会将举行会议并发表声明,但要到明天才能发表声明。
最后一个提给贺建奎的问题是,“如果这是你的孩子,你会这样做吗?”
贺建奎答道:“这是一个好问题。如果是我自己的孩子面临同样的境况,我会先试试(try first)。”
关于此次贺建奎的现身回应,本文将分为三个部分梳理呈现:
贺建奎问答环节(共计23个问答,中英文对照)
贺建奎演讲内容提炼(中英文对照)贺建奎演讲PPT全文
(钛媒体注:本文英文原文速记来自于http://diyhpl.us/wiki/transcripts/human-genome-editing-summit/2018-hong-kong/jiankui-he-human-genome-editing/,由钛媒体编辑付梦雯、赵宇航、庞骁柳编译整理。)
贺建奎回答的23个问题
问题一:你对其他胚胎做了什么? 他们有被移植吗?
What did you do with the other embryos? Were they implanted?
贺建奎:有7对夫妇,但基于目前的情况,临床试验暂停了。
There are seven couples but the clinical trial is on hold due to the current situation.
问题二:你从临床试验设计中得到了什么反馈?团队的规模有多大?你在哪里获得的批准?
What did you to get feedback on the clinical trial design? What was the scope of the team and where did you go to get approvals?
贺建奎:我首先与几位科学家和一名医生交谈,以确定CCR5是否是推荐的。当我们有了一些数据,我在2017年的冷泉港和伯克利基因组编辑会议上展示了这些数据。我得到了积极的反馈,也收到了一些批评和建设性的建议。我不仅与科学家交谈,还与美国顶尖的伦理学家,如斯坦福大学和哈佛大学的伦理学家交谈。我还向来访的科学家展示了我的数据。作为参考,我们起草了一份同意书。这份同意书由一位美国教授审阅。随后我们进行了后续计划。
I first talked with a couple of scientists and a doctor to find out whether CCR5 was the one recommended. Once we had some data, I presented at Cold Spring Harbor in 2017 and also at the Berkeley genome editing conference. Some of the others in that conference too. I received positive feedback and also some criticism and also some constructive advice. I continued to talk with not just scientists but also the top ethicists in the United States such as at Stanford and Harvard. I also showed my data to visiting scientists. When I started a clinical trial for the informed consent, we.. as a reference.. and drafted a consent form. The letter was reviewed by a US professor. ... Subsequent... follow-on plan.
问题三:有多少人审查了知情同意书并认为它是合适的?
How many people reviewed the informed consent and felt it was appropriate?
贺建奎:大约四个人。
About four people. ...
问题四:在知情同意书问题上,是由第三方独立方与患者对话,还是您的团队直接参与了这个过程?
On the informed consent issue, was that an independent person talking to the patient, or was your team involved in that process directly?
贺建奎:团队成员先去找志愿者谈了2个小时,1个月后,志愿者来到深圳,我亲自带他们去找另一位教授,并让他们知情同意。
Team member went to talk to the volunteer first for 2 hours, and then after 1 month, the volunteers came to Shenzhen and I personally took them to another professor and gave them informed consent.
接着问:所以你直接参与了?
So you were directly involved?
贺建奎:我参与了。同时,我也告诉了他们脱靶等信息。
I was involved. Also, I brought them the information about off-targets and so on.
问题五:你是如何招募到这些夫妇参与研究的?是通过私人关系吗?你的机构发布公告了吗?如何招募这些特殊的夫妇?
How did you recruit these couples into your study? Was it done by personal connections? Did your institution put out a release? How was recruitment done of these particular couples?
贺建奎:这是由一个艾滋病志愿者组织平台招募的。
It was by an HIV/AIDS volunteer group.
(大会主席David Baltimore发表了一段声明)
问题六:同意David Baltimore所说的,感谢你在如此不同寻常的境况下还来到这里。首先,我认为这些女孩没有未被满足的医疗需求。父亲是HIV阳性,母亲是HIV阴性。你已经对精子进行了清洗,因此已经可以产生未受感染的胚胎,这些胚胎可以孕育出未受感染的婴儿。
你能描述一下什么是未被满足的医疗需求吗,不是一般意义上的我们所知道的HIV。但什么是对这些病人来说尤为重要的未被满足的医疗需求?其次,你用病人而不是科学家、医生和伦理学家所做的决定,证明了植入这些胚胎以创造人类妊娠的关键决定是合理的。作为科学家、医生和独立团体,我们有什么责任为病人做出决定,而不是让他们自己做出决定?非常感谢。
I'd like to echo David Baltimore's comments thanking you for coming here under some unusual circumstances. First, I don't see the unmet medical need for these girls. The father is HIV positive and the mother is HIV negative. You already did sperm washing, and thus you already could generate uninfected embryos that could give rise to uninfected babies. Could you describe what is the unmet medical need, not of HIV in general which I think we all appreciate, but what is the unmet medical need for these patients in particular? Second, you justified the critical decision of implanting these embryos to create a human pregnancy with the decisions made by the patients rather than made by the scientists, doctors and ethicists. Can you comment on what is our responsibility as scientists and doctors and independent communities to make that decision for the patients rather than allowing them to make that decision seemingly on their own? Thank you very much.
贺建奎:第一个问题是CCR5是否是一个未被满足的医疗需求。我相信这不仅仅是针对这个案例,而是针对千百万儿童。他们需要这种保护。目前还没有艾滋病毒疫苗。我个人接触过一些艾滋病患者,那里30%的村民感染了艾滋病。他们甚至不得不把孩子交给亲戚和叔叔抚养,只是为了防止潜在的传播。对于这个具体的案例,我感到很自豪。实际上是我感到最自豪的,因为他们对生活失去了希望。但有了这种保护,他发了一条信息,说他将努力工作,赚钱,并照顾他的两个女儿和他的妻子一辈子。
The first question was whether CCR5 is an unmet medical need. I actually believe that this is not just for this case, but for millions of children. They need this protection. HIV vaccine is not available. I personally experience with some people in AIDS where 30% of a village people are infected. They even have to give their children to relatives and uncles to raise just to prevent potential transmission. For this specific case, I feel proud. I feel proudest, because they had lost hope for life. But with this protection, he sent a message saying he will work hard, earn money, and take care of his two daughters and his wife for this life.
问题七:在我们讨论第二个问题之前,你说过没有其他植入。需要说明的是,你的临床试验中是否还有其他进行中的基因组编辑?
Before we get to the second question, you said there has been no other implantations. Just to be clear, are there any other pregnancies with genome editing as part of your clinical trials?
贺建奎:还有一个,另一个还在怀孕早期阶段。
There is another one, another potential pregnancy.
接着问:你说的是早期?所以是生化妊娠阶段?
You said early stage? So chemical pregnancy?
贺建奎:是的。
Yes.
问题八:我有两个关于伦理的问题。你能不能放慢一点谈谈你说过的制度伦理过程。第二部分是展望未来——你如何理解你对这些孩子的责任?最后一张幻灯片显示你将进行后续治疗。你对未来有什么责任?
I have a two-part ethical question. Could you slow down a little bit and talk about the institutional ethics process that you said you went through. Looking to the past. The second part is looking to the future- how do you understand your responsibility to these children? Your last slide indicated that you would be doing follow-up treatment. What is your responsibility towards the future as well?
贺建奎:你的朋友、亲戚可能患有一种基因疾病,这些人需要帮助。有数百万家庭患有遗传疾病或接触传染病。如果我们有技术,并能使其可用,那么这将对人们有助益。当我们谈论未来的时候,首先它是透明、开放的,我会分享我所积累的知识给社会和世界。下一步做什么则由社会决定。
Do you see your friends, your relatives who may have-- a genetic disease-- the way I see it, those people need help. There are millions of families with inherited diseases or or exposure to infectious disease. If we have the technology and can make it available, then this will help people. When we talk about the future, first it's a transparent open and share what knowledge I accumulate to society and to the world. It is up to society to decide what to do next.
问题九:那么孩子呢?这不是一个抽象的问题。未来这些孩子出生,你如何理解你对他们的责任?
What about the actual children? It was not an abstract question. Going forward with these born children, how do you understand your responsibility to them?
这与媒体的提问有关。你会在未来公布露露和娜娜的身份吗?如果个人方面保密,它会有影响吗?在这种情况下,你必须保护病人的身份。全世界都想知道,他们会想知道他们是否健康,这种方法是否有任何消极或积极的后果。你会怎么处理这件事?
It relates to questions from the media. Will you publish the identity of Lulu and Nana in the future? Will it effect things if the individuals remain secret? You really have to protect patient identity in this case. The world wants to know, they will want to know whether they are healthy, whether the method had any negative or positive consequences. How will you deal with this?
贺建奎:在公共场合透露HIV阳性患者的身份是违反中国法律的。其次,对于这对夫妇来说,他们的婚姻受到了严密的监控。我将建议数据应该是开放的,且可向专家提供。
It is against Chinese law to disclose the identity of HIV positive people in public. Second, for this couple, it's under careful monitoring. I will propose that the data should be open and avaliable to experts.
问题十:当你开始这个实验时,你是如何说服孩子父母的?你有没有告诉他们如何避免孩子感染艾滋病?你是怎么做伦理审查的?过程如何?有多少机构参与?
How did you convince the parents when you started this expeirment? Did you tell them about alternatives to avoid AIDS infection of their child? And how did you do the ethical review? How was the process? How many institutions?
贺建奎:第一个问题是我们如何说服病人。他们都是有良好的教育背景的志愿者。他们有很多关于艾滋病药物和其他治疗方法的信息,甚至还读过一些最新的研究文章。他们共同处于可接触到艾滋病治疗最新进展的社交网络中。志愿者得到了知情同意,他们已经非常了解基因编辑技术及其潜在的影响和好处。我认为这是一种信息的相互交换。
So the first question regarding how we convinced the patient. These were volunteers. They all have good education background. They had a lot of information about HIV drugs and other approaches, and even some of the latest research articles published. They were usually in a social network together where the latest advancements in HIV treatment is available. The volunteers were given informed consent, and they already understood quite well about the gene editing technology and the potential effects and benefits. I think it's a mutual exchange of information.
问题十一:回到透明度问题上,您是否愿意将知情同意书和您的稿件发布在一个公共论坛上,以便可以在biorxiv.org或知情同意书公共网站上进行审阅,以便业内能够详细阅读您所做的工作?
Back to transparency, would you be willing to post the informed consent and your manuscript in a public forum so it could be reviewed such as on biorxiv.org or a public website for informed consent so that the community can read in detail what you have done?
贺建奎:是的,事实上知情同意书已经在网站上了。搜索我的名字,你就会找到它。第二,对于知情同意书,在我起草的时候,大约有10个人看过,其中有些来自美国。我会发给几个人,让他们来评论。我可能(不?)提交到biorxiv。在发布到biorxiv之前,应该先进行同行评审。
Yes, actually the informed consent is already on the website. Search my name and you will find it. Second, for the manuscript, when I drafted the manuscript there are already about 10 people-- a few in the US-- have been editing (reviewing?) my script-- I will send several to give comments. I might (not?) submit to biorxiv. It should go to peer review first before being posted to biorxiv.
问题十二:你接受了那个建议,但你现在会改变主意吗?情况已经发生了变化,人们迫切需要知道你做了些什么。我想这不是一个问题,只是需要思考。
You took that advice, but would you change your mind now? The circumstances have changed, and there is big demand to know what you have done. That's not a question I suppose, but just something to think about.
问题十三:我对知情同意流程非常感兴趣。你说有一份同意书你很乐意和大家分享,有四个人审阅了这份同意书,和病人进行了十分钟的谈话。在英国,普通大众的平均阅读年龄在10岁左右。绝大多数英国人不理解基因组这个词。我对那次谈话中发生的事很感兴趣。你如何解释风险?他们明白的证据是什么?
I am very interested in informed consent process. You said there's a consent form that you are happy to share, it was reviewed by four people, and a ten minute conversation that happened with the patients. In the UK, the average reading age of the general public is around age 10. The vast majority of the UK public doesn't understand the word genome. I'm quite interested what happened in that conversation. How did you explain the risks? What was the evidence that they understood?
贺建奎:不是10分钟,我说了1小时10分钟。事件发生在一间会议室,夫妇俩在那里会面,还有两名观察员。在知情同意之前,这对夫妇已经拿到了打印好的复印件。
I did not say 10 minutes. I said 1 hour and 10 minutes. It happened in a conference room where the couples met and two observers. Printed copies were given to the couple before informed consent.
接着问:他们能读懂它们吗?
Could they read them and understand them?
贺建奎:是的。他们受过很好的教育。
Yes. They were very well educated.
贺建奎:是的。我从第1页到第20页逐行逐段地解释。他们有权在知情同意过程中提出任何问题。完成了整个知情同意后,最后我给了他们一些时间进行私下讨论,这样他们就有了一些时间以夫妻身份进行讨论。他们还可以选择把它带回家,之后再决定。
Yes. I explained from page 1 to page 20, line by line, paragraph by paragraph. And they had the right to ask any question during this informed consent process. Once we went through the entire informed consent, at the end I gave them time to private discussion so that they had some time to discuss as a couple. They also had the choice to decide to take it home and decide later.
接着问:团队成员是否接受过知情同意的培训?这是第一次吗?他们受过这样的训练吗?
Were any of the team members trained in taking consent? Was this the first time? Were they trained at doing this?
贺建奎:有两轮知情同意。第一轮是非正式的,参与的是我的实验室的一个小组成员。第二个比较正式,跟我一起。当我们起草知情同意书时,我阅读了NIH关于知情同意书的指南。
I had two rounds of informed consent. The first round was informal and a team member from my lab. Just two hours to talk with them. The second one was more formal, and with me. I read guidelines from the NIH on informed consent when we drafted the informed consent.
问题十四:有媒体提问,能否解释一下这项工作的资金来源?
Question from the media, could you please explain the source of the funding for this work?
贺建奎:当我开始做这实验的时候,我是一所大学的教授。三年前,我开始了这项工作,当时大学还在给我发工资。医疗服务和病人的经费由我自己支付。一些测序费用是由大学的创业基金支付的。
When I started this, I was a professor at a university. Three years ago, I began this work. I began that when the university was paying my salary. Medical care and expense for the patients was paid by myself. Some of the sequencing costs was covered by startup funding in the university.
问题十五:所以没有来自行业或公司的资金?我想说得更清楚一点,你在一家公司工作,但那不是这个项目的一部分?
So there was no funding from industry or a company? Just to make it clear, you have involvement in a company, but that was not involved in this project?
贺建奎:我的公司既没有参与这个项目,也没有人员、空间和设备。
Neither my company was involved in this project, neither people space or equipment.
问题十六:这些家庭付了钱吗?有资金利益交换吗?
Did the families pay anything or did they pay anything? Was there any exchange of money?
贺建奎:我们在知情同意书中解释说,我们支付了所有的医疗费用,他们不会因此得到钱。
We explained in the informed consent that we paid all the medical expense and they would not receive money for this.
问题十七:谁应该对这些病人负责?如何提供医疗服务?由于受到严格的监督,你会如何评价他们的心理健康?接种疫苗和神经发育结果如何?
Who should be responsible for these patients? How will medical care be provided? How will you evaluate their mental health due to strict supervision? What about vaccinations and neurodevelopmental outcomes?
贺建奎:知情同意书提供了定期血液检测和其他医疗程序的信息。这些都可以在知情同意书中找到。
.. informed consent provided information about regular blood tests and other medical procedures. It's all available in the informed consent document.
问题十八:关于脱靶评估。你提到你做了单细胞全基因组测序。据我所知,目前还没有可靠成熟的技术来进行单细胞全基因组测序。你是怎么做到的?还有一个共识是不允许……对胚系基因进行基因组编辑。这是包括中国在内的国际社会的共识。我想你知道这是一条红线。你为什么选择越过这条红线?你为什么秘密进行这些临床试验?
Regarding off-target assessment. You mentioned you did single cell whole genome sequencing. As far as I know, there is no reliable or mature technology to conduct single cell whole genome sequencing. So how did you do this? There's also consensus to not allow ... to conduct genome editing on germlines. This is the consensus of the international community including the Chinese community. I assume you were aware this was a red line. Why have you chosen to cross this red line? Why did you perform these clinical trials in secret?
贺建奎:首先,对于脱靶测序,在植入前,我们只能从胚细胞中活体检视3 - 5个细胞。然后,我们对单个细胞进行扩增。以目前的技术水平,我们可以得到单细胞95%或80-85%的基因组覆盖率。可能会有脱靶效应缺失,但这不只是看这个胚胎,我们有很多脱靶效应,通过对他们的总体观察,我们可以了解脱靶情况。
First, regarding off-target by sequencing. Before implantation, we can biopsy only 3 to 5 cells from the blastocyte. From that, we amplify for single cell. We were able to get maybe 95% genome coverage for single cell. Or 80-85% coverage, current state of the art. There might be off-target effects missing, but it's not just looking at this embryo, we had many of them, and by many of them together we can understand how much off-target happens.
问题十九:问题的第二部分是,为什么要这么保密尤其是当你知道科学家们普遍认为我们不应该这么做的时候?政府称是你违反了法律,如果政府知道你的计划,他们可能会说你不能做。但你还是做了。
The second part of the question, was, why so much secrecy around this particularly when you know the general feeling among the scientists is that we shouldn't be doing this? Why so much secrecy from the Chinese authorities? You know the accusation now is that you have broken the law. If you had involved the Chinese authorities, they might have said you can't do it. That's how it seems, you went ahead anyway.
贺建奎:我一直在科学界工作。我在伯克利冷泉港和一个亚洲会议上发表了讲话。我向他们征求过反馈。我继续从事临床试验,那时我也就伦理问题咨询过美国的专家。
I have been engaged in the scientific community. I spoke at Cold Spring Harbor, Berkeley, and at an Asian conference. I consulted them for feedback. I moved on to clinical trials, and at that time I also consulted with experts in the United States about ethics.
问题二十:大家提出了许多科学问题。但也有很多关乎这两个女孩。经过事情的彻底审查后,也许会有适当的讨论。所以这对姐妹,一个是抗HIV感染的,像你所强调的那样,这是其父母至少是父亲想要的结果。在家庭中,这两个女儿会得到不同的对待吗?另一方面,一个女孩对艾滋病毒感染是难以治愈的——她现在会成为理想的生育对象吗?这是否会改变她在婚姻和孩子方面的整体动力,因为配偶可能对家庭内部的这种突变特别在意?
There were many scientific questions raised. But there's also a very personal dynamic for these two girls. If things had been thoroughly vetted, there might have been a proper discussion. So there are two sisters, and one is refractory to HIV infection and that was a desired outcome from the parents or at least the father you specifically highlighted. Within the family dynamic, are these daughters going to be treated differently? The othe rside of that is the one girl that is refractory to HIV infection- is she now going to be desirable for breeding? Will this change her whole dynamic in terms of marriage and children because a spouse might be particularly interested in getting this mutation within the family? Even this very simple thing, with these two girls being different and the family and now this being something of an enhancement preventative trait not just a disease correction but now something new that could be introduced in the population.
贺建奎:我有深刻思考过这个问题。这也是为什么我发表了基因编辑的五个编码值。首先是尊重孩子的自主权。这些工具不应该被用来控制他们的未来或者对他们未来的选择做出期望。他们应该有选择的自由。第二点则是鼓励孩子们发掘自己的全部潜能,追求自己的生活。
I have reflected deeply on this. This is why I published the five code value for gene editing. First is respect for children's autonomy. These tools should not be used to control their future or make expectations about their future choices. They should be given the freedom of choice. The second one is-- the children, encourage them to explore their full potential and the pursuit of their own life.
问题二十一:18岁前,他们都是没有自主权的孩子。他们的基因型可能会影响其成长。这会影响他们或者他们父母的认知吗?
For 18 years though, they are children and they do not have that autonomy. Their genotype might quite affect their upbringing. Will this effect their perception, or their parents?Their parents will know they were edited.
贺建奎:我不知道如何回答这个问题。
I don't know how to answer this question.
问题二十二:我被告知我们需要马上结束这个环节。我想用两个来自媒体的问题来结束。一些问题已经反复被提及。你对现在这样的公众反应有预知吗?即使你已经成功地通过审查并发表论文,在当时也会有很多麻烦。你预料到现在的状况了吗?
I've been told we have to stop this session soon. I want to finish off with two questions from the media, some that have been repeated several times. Did you expect all this reaction? Even if you had managed to succeed in having the paper reviewed and published first, there would have been a lot of fuss at that time as well. Did you anticipate this?
贺建奎:那是因为消息走漏了。我最初的想法是基于美国的调查,或英国的道德声明,或中国的研究,这些讯息给我们一个信号,大多数公众支持人类基因组编辑用于治疗,包括艾滋病的预防。
It's because the news leaked out. My original thinking was based on the survey of the United States or the US or the British ethics statement or the Chinese study that gave us the signal that the majority of the public is supporting human genome editing for treatment including HIV prevention.
问题二十三:最后一个问题是,如果这是你的孩子,你会这样做吗?
The very final question is, if this was going to be your baby, would you have gone ahead with this?
贺建奎:这是一个好问题。如果是我自己的孩子面临同样的境况,我会先试试。
That's a good question. If it was my baby, with the same situation, yes I would try first.
主持人:感谢贺博士出席。
I think we should thank Dr. He for appearing here.
演讲内容关键点节选
贺建奎在演讲开始前先进行了道歉,但并没有明确地表明道歉内容。他表示:“我必须道歉,本次实验结果在未经本次研讨会同行学者审阅之前,被出乎意料地泄露了。”
原文如下:First, I must apologize. This leaked unexpectedly, taking away from the community before presenting in a scientific venue, and without the peer review process engaged before this conference.
不过,他也透露,该研究报告已提交给一个科学期刊进行审查。
贺建奎介绍到,他们的实验数据聚焦于人类和猴子。虽然艾滋病防治已经取得了很大进展,但目前,新感染率仍然比联合国目标高出3倍。在若干国家,特别是发展中国家,艾滋病仍然是十大死亡原因之一。
特别是对于母亲带有HIV的儿童来说,在生命最初几个月感染艾滋病的风险要更高。而天然CCR5突变(Natural CCR5 mutation)赋予了强烈的HIV1抗性。在一些欧洲国家,高达10%的人口可以获得对艾滋病毒的天然保护。 它可以预防HIV感染。CCR5基因是研究最多的变异之一,也是最容易理解的基因之一。
贺建奎表示,他和他的团队首先在小鼠上做了不同细胞的实验,在共同行为评估中,没有显示出差异。随后他们开始评估该技术是否可以应用于人类(We then set out to assess whether sgRNA could be designed for CCR5 in human. )。
贺建奎在演讲中给出一系列研究数据(详见文末PPT)。
特别是针对脱靶效应,在胚胎阶段,任何脱靶都会造成非常重要的后果,甚至可能会影响到全身健康。
贺建奎表示,他们采用在植入前通过胚胎的单细胞全基因组测序方法来评估脱靶。使用扩增方法来最小化假阳性率和无偏覆盖率。贺建奎解释道,虽然其他实验室使用了相同的方法,但贺的试验通过对亲本基因组进行测序向前迈出了一步,找到存在于亲本细胞中但不存在于参考测序基因组中的风险位点。
原文如下:We assessed off-target by single cell whole genome sequencing of embryo, prior to implantation. We used an amplification method to minimize the false positive rate, and for unbiased coverage. Other labs have used the same approach, but we take it a step forward by sequencing the parent genome, to find risk sites that exist in the parent cells but not in the reference sequenced genome.
贺建奎表示,虽然,在实验中,基因测序发现了一个潜在的脱靶风险,但是距离其他的基因都很远,“之前我们发现过这个问题,也告诉过婴儿的父母”,贺建奎说道,“我们提醒了这对父母选择不植入(胚胎)离开实验,还是选择植入胚胎,这对父母选择接受并开始怀孕。”
原文如下:The parents were informed of the implication of this. We reminded them of the option to leave the trial without implantation, or to choose the embryos. The couple elected to implant this embryo to start a two-embryo pregnancy.
并且婴儿出生后,Sanger测序和深度测序均未检测到PGD期间观察到的基因间脱靶,全基因组测序也未观察到脱靶。
贺建奎表示,计划在未来18年内对这对双胞胎进行监测,并希望他们在成年后能够同意进行继续监测和支持。(本文首发钛媒体,作者/付梦雯 赵宇航,钛媒体编辑庞骁柳、王糈对本文亦有贡献)
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