测DNA知疾病风险?宠物DNA测试流行中

You’ve probably seen an ad for a company that wants to tell you about your genome.

你可能见过这样一则广告,这个公司想要把你的基因组告诉你。

Just spit in a tube, send it in, and you can learn about your disease risk.

只需要往试管里吐口水,然后把它寄过去,然后你就可以了解自己的疾病风险。

Now, you can do the same for your pets, at least according to nearly a dozen—and growing—companies on the market.

如今,你同样可以为你的宠物这样做,至少根据最近接近一打—数目还在增加—的上市公司说的,是这样的。

But how accurate are these tests—and why are these businesses not subject to the same regulations as those that analyze human DNA?

不过这些测试会有多准确呢——还有为什么这些生意不受分析人类DNA相同条例的规范呢?

Science chatted with Lisa Moses, a veterinarian affiliated with Harvard Medical School in Boston, and Elinor Karlsson, director of vertebrate genomics at the  Broad Institute in Cambridge, Massachusetts.

《科学》杂志采访了丽莎.莫西斯,她是一名隶属于波士顿的哈佛医学院的兽医,还采访了马萨诸塞州的剑桥市的布罗德研究所脊椎动物基因组主人埃莉诺.卡尔森。

Both are authors on an opinion piece published today in Nature about these and other potential issues with the booming pet genomics industry.

她们俩是今天发表在《自然》杂志上的一篇评论文章的共同作者,这篇文章就是关于这些还有其他的快速增长的宠物基因组行业潜在问题的。

This interview has been edited for clarity and length.

为了清晰简练,采访内容经过了编辑。

Q: What kind of pets are being tested?

问:他们测的是什么品种的宠物呢?

Lisa Moses: It’s overwhelmingly dogs. There are some tests for cats, but right now it’s about 90% dogs.

丽莎.莫西斯:绝大部分是狗。还有一些检测猫的,不过目前90%都是狗。

Q: Why would an owner want to get their pet’s DNA tested?

问:为什么主人会想让他们的宠物去测试呢?

Elinor Karlsson: A lot of dog owners are interested in what breeds are in their dog, or some fun facts, like how big their dog could get. But there’s also testing for somewhere between 100 and 200 different genetic variants that have been linked to disease.

埃莉诺.卡尔森:很多狗主人都对他们的狗是什么品系的很感兴趣,或者其他的有趣的事实,比如他们的狗能够长到多大。不过也有些是测试大概100到200个不同的关于疾病的基因变异的。

Q: Is the process of testing a dog’s DNA different from testing a human’s?

问:测试狗的DNA的程序跟测试人的是相同的吗?

E.K.: Dogs and humans are very similar to one another, so you can use the same technology to look at dog DNA or human DNA. With these direct to consumer tests, for dogs or humans, often you’re not looking at every single part of the genome. You’re just looking for changes, or mutations, that are linked to some kind of disease or condition.

E.K.:狗和人类是很相似的,所以可以用同样的技术来检测狗狗的DNA或者人类的DNA。对于这项直接面向消费者的测试,对于狗也好,人也好,往往你不能看到基因组的每一个部分。你看的仅仅是变化,或者突变的部分,这项是与某些疾病或者状况相关的。

Q: How accurate are the tests for dogs that are now on the market?

问:这项市面上的狗狗的测试有多准确呢?

E.K.: With genetic tests for humans, there have been so many studies that look at whether or not a certain mutation in your genes actually leads to you developing a certain disease. There just isn’t this massive body of work on dog genomes. So many of these tests are telling owners that their dog could get a certain disease without any major studies on how likely that is to happen. The science needs to catch up.

E.K.:对于人类的基因测试,有很多研究是关于基因的某些突变是否会引起你患上某些疾病的。而对于狗的基因组则没有这样大量的研究。因此这项很多测试告诉主人他们的狗可能会患上某种疾病,但是却没有研究表明患病的概率是多少。这方面的科学还有路要走。

Q: What are the dangers of potentially inaccurate test results?

问:这项不够准确的测试结果有什么潜在的危险呢?

L.M.: In my veterinary practice, I’ve seen more and more people coming in with results that show their dog has a chance of developing conditions like epilepsy, heart disease, and degenerative muscular disorders, and they want to make treatment decisions right away. They’re ready to pay for more tests or medical interventions that the dog might not actually need, that could be quite expensive, and that could be invasive for the dog. In some cases, people preemptively end their dog’s life if they think their dog is predisposed to a degenerative disease, because don’t they want their pet to suffer.

L.M.:在我的兽医生涯中,我见到越来越多的人带着测试结果进来,结果显示他们的狗有可能患上癫痫,心脏病,退行性肌肉疾病等,他们想要立即开始治疗。他们已经做好准备要支付很多狗狗其实并不需要的测试,这是很昂贵的,而对狗狗来说检测也是侵入性的。有时候,当主人认为狗狗将会患上退行性肌肉疾病时,他们会先行终结狗狗的生命,因为他们不想让狗狗受苦。

Q: Genetic testing kits for humans are regulated. Why aren’t pet tests?

问:人类的基因组测试是受到监管的。为什么宠物的测试却没有呢?

L.M.: With any new technology, regulation often lags behind, and for humans, there’s been more time for conversations to take place, and rules have been established that govern how the tests are vetted. With veterinary medicine, there hasn’t been a formal and systematic discussion about the ethics related to these new technologies. We need to start talking about this, because right now a lot of people are in the dark.

L.M.:对于很多新技术,规范往往会滞后,对于人来说,召开相关会议的时间会更多,于是关于这些测试的审查规定才能出台。对于兽医学,则没有关于这些新技术的伦理相关问题的正式的,系统性的讨论。我们需要开始去谈论它,因为目前很多人在暗箱操作。

Q: What might happen if this industry continues to go unregulated?

问:如果这个行业继续不受规范的话,可能会发生什么呢?

L.M.: I worry that if the tests don’t improve, people are going to notice that their dogs don’t actually get the diseases they’re at risk for. I don’t want people to lose the idea that there is tremendous value in genetic testing, if we do it right. We really do have the potential to figure out that our patients get diseases long before they do permanent damage, if we are able to make this happen.

L.M.:我担心如果测试不进行改进的话,人们就会注意到狗狗也许并不会患上测试说有风险的那些疾病。我不希望人们会对这些如果正确操作,将具有巨大价值的基因测试失去信心。如果能够进行规范的话,我们目前确实已经有潜力去在病人真正遭受损伤之前就指出他们可能患的病。

Q: How can we improve genetic testing for pets?

问:我们应该怎样改善这些对宠物的基因测试呢?

L.M.: We need to start with a conversation that encompasses the international veterinary community, the testing industry, and the scientists. We have to come up with some mutually agreed upon ways to report these results, and figure out how to validate them. We’d need to have transparency on how the tests are done, how the science is done, and talk seriously about data sharing. There’s a consortium, the International Partnership for Dogs, and they’re trying to do some standardization and data sharing. But, it’s brand new and I don’t know yet how successful they’re going to be.

L.M.:我们需要开展一个会议,其中要包括那些国际兽医组织,测试行业,还有科学家们。我们必须想出一些大家同意的方法来报告这种结果,并指出如何验证它们。我们需要对测试过程,这个技术是怎样运行的进行透明化,并严肃讨论一下数据共享问题。目前有一个基金会,国际狗狗合作组织,它们试图建立标准并进行数据共享。不过,它还很新兴,我也不知道他们会有多成功。

Q: What kind of things could we learn from pet genetics, if we do it right?

问:假如规范操作,我们可以从宠物的基因组中得知什么呢?

E.K.: Dogs carry a lot of the same diseases humans do. By studying dogs, we could learn a lot about the causes of things like cancer, or diabetes, and use that information to develop new treatments for humans.

E.K.:狗跟人类一样携带很多同样的疾病风险。通过研究狗狗,我们也可以学到很多疾病的成因,比如癌症,糖尿病,然后利用这些信息来研发新的治疗人类的手段。

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