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測DNA知疾病風險?寵物DNA測試流行中

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

你可能見過這樣一則廣告,這個公司想要把你的基因組告訴你。

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

只需要往試管里吐口水,然後把它寄過去,然後你就可以了解自己的疾病風險。

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

如今,你同樣可以為你的寵物這樣做,至少根據最近接近一打—數目還在增加—的上市公司說的,是這樣的。

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

不過這些測試會有多準確呢——還有為什麼這些生意不受分析人類DNA相同條例的規範呢?

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.

《科學》雜誌採訪了麗莎.莫西斯,她是一名隸屬於波士頓的哈佛醫學院的獸醫,還採訪了馬薩諸塞州的劍橋市的布羅德研究所脊椎動物基因組主人埃莉諾.卡爾森。

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

她們倆是今天發表在《自然》雜誌上的一篇評論文章的共同作者,這篇文章就是關於這些還有其他的快速增長的寵物基因組行業潛在問題的。

This interview has been edited for clarity and length.

為了清晰簡練,採訪內容經過了編輯。

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Q: What kind of pets are being tested?

問:他們測的是什麼品種的寵物呢?

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

麗莎.莫西斯:絕大部分是狗。還有一些檢測貓的,不過目前90%都是狗。

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

問:為什麼主人會想讓他們的寵物去測試呢?

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.

埃莉諾.卡爾森:很多狗主人都對他們的狗是什麼品系的很感興趣,或者其他的有趣的事實,比如他們的狗能夠長到多大。不過也有些是測試大概100到200個不同的關於疾病的基因變異的。

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

問:測試狗的DNA的程序跟測試人的是相同的嗎?

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.:狗和人類是很相似的,所以可以用同樣的技術來檢測狗狗的DNA或者人類的DNA。對於這項直接面向消費者的測試,對於狗也好,人也好,往往你不能看到基因組的每一個部分。你看的僅僅是變化,或者突變的部分,這項是與某些疾病或者狀況相關的。

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

問:這項市面上的狗狗的測試有多準確呢?

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.:對於人類的基因測試,有很多研究是關於基因的某些突變是否會引起你患上某些疾病的。而對於狗的基因組則沒有這樣大量的研究。因此這項很多測試告訴主人他們的狗可能會患上某種疾病,但是卻沒有研究表明患病的概率是多少。這方面的科學還有路要走。

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

問:這項不夠準確的測試結果有什麼潛在的危險呢?

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.:在我的獸醫生涯中,我見到越來越多的人帶著測試結果進來,結果顯示他們的狗有可能患上癲癇,心臟病,退行性肌肉疾病等,他們想要立即開始治療。他們已經做好準備要支付很多狗狗其實並不需要的測試,這是很昂貴的,而對狗狗來說檢測也是侵入性的。有時候,當主人認為狗狗將會患上退行性肌肉疾病時,他們會先行終結狗狗的生命,因為他們不想讓狗狗受苦。

Q: Genetic testing kits for humans are regulated. Why aren』t pet tests?

問:人類的基因組測試是受到監管的。為什麼寵物的測試卻沒有呢?

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.:對於很多新技術,規範往往會滯後,對於人來說,召開相關會議的時間會更多,於是關於這些測試的審查規定才能出台。對於獸醫學,則沒有關於這些新技術的倫理相關問題的正式的,系統性的討論。我們需要開始去談論它,因為目前很多人在暗箱操作。

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

問:如果這個行業繼續不受規範的話,可能會發生什麼呢?

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.:我擔心如果測試不進行改進的話,人們就會注意到狗狗也許並不會患上測試說有風險的那些疾病。我不希望人們會對這些如果正確操作,將具有巨大價值的基因測試失去信心。如果能夠進行規範的話,我們目前確實已經有潛力去在病人真正遭受損傷之前就指出他們可能患的病。

Q: How can we improve genetic testing for pets?

問:我們應該怎樣改善這些對寵物的基因測試呢?

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.:我們需要開展一個會議,其中要包括那些國際獸醫組織,測試行業,還有科學家們。我們必須想出一些大家同意的方法來報告這種結果,並指出如何驗證它們。我們需要對測試過程,這個技術是怎樣運行的進行透明化,並嚴肅討論一下數據共享問題。目前有一個基金會,國際狗狗合作組織,它們試圖建立標準並進行數據共享。不過,它還很新興,我也不知道他們會有多成功。

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

問:假如規範操作,我們可以從寵物的基因組中得知什麼呢?

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.:狗跟人類一樣攜帶很多同樣的疾病風險。通過研究狗狗,我們也可以學到很多疾病的成因,比如癌症,糖尿病,然後利用這些信息來研發新的治療人類的手段。

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