基因檢測技術并不難，難的是要別人替你保守秘密

凱莉?查爾斯花了數年來仔細權衡基因檢測的利弊，最終好奇心占了上風。這位36歲的作家想更多地了解跟自己關系冷淡的父親及其家族的歷史。對此她知之甚少，而且都是聽父親說的。最后一次收到父親的信是在近14年前，而最后一次交談的時間就更久遠了。正因如此，查爾斯決定自行尋找自己基因史上那些丟失的碎片。

雖然采集足夠的唾液樣本再寄出去是件很平常的事，但在數百萬探尋自身家族歷史的人中間，查爾斯卻有所不同，她想知道完成排序和檢測后，自己的DNA數據會流向何方。

在基因檢測時使用化名的查爾斯可不是普通的消費者，她非常重視保護隱私。因為擔心會有人用那些基因信息追查到自己，今年3月最終決定在Ancestry.com旗下的AncestryDNA進行基因檢測時她編造了一個名字。

幾周后，也就是今年4月，一名男子在加州被捕。該男子可能就是早該落網而且臭名昭著的“金州殺手”。此事讓人們開始激烈爭論家譜服務對隱私的潛在威脅，因為它追蹤人們的祖先或醫療史。執法部門發現“金州殺手”嫌疑人的原因就是在一個基因數據庫中發現其親屬的DNA和兇手匹配。

查爾斯說：“剛開始我在想，‘噢，天吶，他們是用我的DNA找到他的嗎？’”因為她恰好在當天收到了自己家譜檢測的首批結果。

很快查爾斯就發現自己跟此事無關。讓警方終結這宗懸案的是開源網站GEDMatch，而不是AncestryDNA。用戶可以自愿向GEDMatch上傳基因信息，以期找到失散多年的親人。

這讓查爾斯松了口氣。她知道自己有可能在自身的基因史中獲得意外發現，甚至是跟犯罪有關。確實，從4月開始，警方通過比對GEDMatch上親屬的基因信息和犯罪現場留下的DNA，至少解開了六宗懸案。比如，得益于這種家譜技術的進步，警方在7月逮捕了約翰?D?米勒，罪名是殺害8歲女孩阿普麗爾?汀斯利并毀尸。此前這樁案件已經擱置了30多年。

查爾斯說：“這讓我有點兒緊張，原因并不是這項技術被用于阻止暴力犯罪，而是執法部門是否知道適可而止?；蛐畔⒅粫挥糜诒葘⑷朔竼?？會不會在某一天也會被用來抓捕抗議者呢？”

在GEDMatch這樣的網站上分享基因信息的人都很清楚自己是在公開這些數據。但使用目前市場上的那些DNA檢測工具呢？如果你把唾液裝進試管寄出去，你的個人信息能保密嗎？

答案是，這要看情況。和所有消費品一樣，使用家譜服務的基礎是用戶接受其隱私協議。在這些政策條文的法律措辭中，大家會發現“偷偷藏在”里面的一條內容是你同意和未提及名稱的“第三方”分享去除身份特征后的基因信息。雖然這些共享信息剔除了姓名、住址等個人標識，但仍有人懷疑個人隱私能否真正得到保護。

如今，基因檢測領域由兩大公司主導，而且兩家公司都聲稱隱私可以得到保護。一家是Ancestry.com，具體業務由其子公司AncestryDNA負責；另一家是加州生物科技公司23andMe，負責人是安妮?沃西基。近幾年，雙方的業務都實現了顯著增長。2012年成立的AncestryDNA（母公司成立于1983年）于今年3月宣布，它已檢測了近1000萬人，從而成為全球最大的家譜服務公司（2016年有報道稱這家未上市公司的價值為26億美元）。競爭對手23andMe在2018年公司報告中表示，其檢測人數已超過500萬。23andMe去年底的價值據稱為15億美元。

兩家公司都抓住了這個較新的市場中不斷增長的需求，但它們的目的不同，因此在考慮隱私問題時面對著不同的道德困境。AncestryDNA只向用戶提供其先輩的遺傳信息，23andMe則更進一步，它會告訴用戶他們的遺傳素質以及今后可能患上某些疾病的風險。這些數據可能提醒人們注意潛在的健康問題。但就像有些人擔心的那樣，如果在剔除個人特征后共享這些信息，特別是和保險公司以及用人單位共享，相關人員及其家人就可能在醫療方面受到區別對待。

查爾斯很重視這些假設。雖然擔心，但她仍感到好奇，并在7月底將另一份樣本寄給了23andMe。她還沒有收到檢測結果：“我確實有點兒擔心。但在今天的科技環境下，剩下的隱私真的不多了。所以我想，‘就讓擔心隨風而去吧?！?/p>

在這個隱私退化的時代，人類DNA可能是最后的前沿地帶。同時，越來越多的公司開始在基本未知的領域對人類DNA進行排序、存儲和解讀，其業務介于略受監管的消費品和嚴格監管的醫療服務之間。

23andMe等直接為消費者提供基因檢測服務的公司必須在獲得美國食品與藥品監督管理局（FDA）批準后才能將健康風險告知個人，在這個過程中有醫生參與的公司則不需要獲得批準。但和醫療保健機構不同，直接為消費者檢測基因的公司不受健康保險流通與責任法案（HIPPA）約束。此項法案保護的是個人醫療信息的隱私權，但幾乎沒有法律涉及這些公司所獲基因信息的隱私權。

紐約大學新聞學教授查爾斯?塞費就基因檢測行業做過全面論述。他說：“醫療研究和硅谷數據的最大區別之一就是要求人們在知情情況下表示同意的道德框架。這個區別保證了[隱私]權力得到保護?！?/p>

雖然23andMe的隱私政策宣稱絕不會在未獲得明確書面同意的情況下散播個人基因信息，但該政策表示，23andMe“使用并和第三方分享整體信息”。也就是說，他們把客戶的基因信息匯總并剔除個人特征后就會進行共享。

雖然23andMe表示這些第三方實體多為研究伙伴，但最近它和英國制藥巨頭葛蘭素史克簽訂了價值3億美元的合同，后者將利用其基因信息進行藥物發現。舉例來說，23andMe的網站稱“為了發展業務，啟動研究，向您發送營銷類電子郵件并改善我們的服務”，有可能進行這樣的交流。

雖然這個整體數據處于匿名狀態，但專家們仍懷疑隱私能否真正得到保護。

斯坦福大學法律和生物科學中心主任漢克?格瑞利指出：“他們會把數據中的個人特征去掉，但如果對醫療研究有用，其中必然會有你的年齡、身高、體重、居住地，或許還會包括你的出生地和可能患有的疾病?！睋Q句話說，“也許能通過這些信息把你找出來?！?/p>

即便如此，格瑞利還是把自己的基因信息發送給了AncestryDNA。雖然承認有被認出的危險性，但這位生物倫理學家覺得自己的基因信息是否存在被公諸于眾的風險可能只是個理論上的顧慮。

格瑞利表示：“我不知道這個威脅的真實程度如何，有沒有人真的擔心。也許如果有人認為斯蒂芬?庫里在這個數據庫里，他們會想找到他，看看是什么讓他的跳投如此之準?！?/p>

但也有專家將人們被重新認出的風險視為對個人自由的直接威脅。生物技術研究機構Hastings Center的博士后研究員喬爾?雷諾茲擔心，對于23andMe等公司提供的醫療基因檢測，大多數消費者都不太可能捕捉到自己未來的隱私面臨的那一絲威脅。

雷諾茲說：“對開發這項技術以及在這個領域工作多年的專業人士來說，這是個復雜的問題。我有點擔心人們不完全理解它的含義?！保楣鴱氐椎匮芯考易V服務倫理，這位生物倫理學家決定把自己的個人醫療數據放在網上并在23andMe接受了基因檢測。）

絕大多數消費者都愿意將自己的DNA信息用于研究，前提是他們認為這是在做公益。據23andMe介紹，該公司近80%的用戶都主動選擇了“為研究”貢獻個人數據。然而，盡管人們普遍認為這門科學是為公眾利益服務，生物倫理學家們卻警告說情況或許并非總是這樣。

格瑞利說：“大多數人都樂意為醫療研究做貢獻。但如果有人想研究人種和智力問題呢？”

雷諾茲也有類似顧慮。他解釋說，人種方面的科學研究往往被誤解和誤讀。

他指出：“基因研究中有一個非常復雜的問題，那就是人們平常說的人種，以及構成我們文化的人種跟這項研究中人種的含義有天壤之別?！?/p>

雷諾茲解釋道：“你會處于一種怪異境地，你相信某些人種面臨特定健康風險并且會出現特定的健康問題。但這種信念會輕而易舉地變成非常有害的種族主義觀點，進而宣稱某些人種有某某某健康問題。但研究絕不是這個意思?！?/p>

不過，第三方共享最讓人擔心的威脅或許還是以研究名義分享消費者基因數據，這些數據有可能在某一天被用于研究以外的領域。

Ancestry發言人保證說：“我們沒有而且也不會把DNA數據賣給保險公司、用人單位、健康服務提供商或者第三方營銷商。我們只會在用戶同意后和研究人員共享這些DNA數據?！迸c之類似，23andMe仍表示只會在征得用戶同意后共享信息，而且執法部門必須有法院命令才能接觸到具體數據。

雖然目前看來隱私政策為消費者提供了一定程度的保護，但值得注意的是，從法律上講隨時都可以修改這些政策。比如說，Ancestry的隱私政策共有16條，它在結尾時附帶表示：“我們可能隨時調整本隱私聲明?！边@絕對合法，而專家擔心的也正是這一點。

雷諾茲說：“如今我們給某些種類的基因歧視開了綠燈，因為根本沒有法律保護手段。這方面的風險非常大?！?/p>

紐約大學新聞學教授塞費也認為美國現有法律對基因歧視的防范很薄弱，而且不太可能用于實踐?！叭绻腥颂峁┗蚪M信息，那么在將某人納入他們的風險池之前，保險公司為什么不去看看他的基因組呢？”

他還說，威脅并非存在于電影《變種異煞》所描述的遙遠未來，它就在眼前。

等待最新一組基因檢測結果的查爾斯對此仍有保留，但她說解決這個問題還需要一點兒時間。

她說：“我必須得相信隱私政策，這樣才能把我的樣本送去檢測。我猜再過5-10年我們就知道它們管不管用了?！保ㄘ敻恢形木W）

譯者：Charlie

審校：夏林

Kylie Charles spent years carefully weighing the pros and cons of genetic testing until her curiosity got the better of her. The 36-year-old writer yearned to know more about her distant father and his family history. All she knew was what he had told her, and it wasn’t much. It had been nearly 14 years since he last wrote her, and years more since they spoke, when Charles chose to carve out the missing fragments of her genetic history for herself.

While the process of producing a sufficient saliva sample and sending it off was tediously routine, Charles was unusual among the millions looking for answers about their family history in wanting to know what could happen to her DNA data after all is sequenced and settled.

Charles, who asked to use a pseudonym to protect her anonymity, is not your average consumer. She was so concerned about maintaining her privacy that when she finally settled on using AncestryDNA, a subsidiary of Ancestry.com, in March, she did so under a fabricated name for fear that her genetic information might somehow be traced back to her person.

A few weeks later, in April, the long-awaited arrest of a man in California alleged to be the infamous “Golden State Killer” ignited frenzied debate about the potential threat genealogy services that trace ancestry or medical history pose on privacy. The suspected killer had been identified when law enforcement found matching DNA from his relatives on a genetic database.

“Initially I was like, ‘Oh my god, was it my DNA that found him?’” said Charles, who coincidentally received the first results of her own genealogy test that same day.

That quickly turned out not to be the case. It was through GEDMatch, an open-source website that enables users to voluntarily upload their genetic information in the hopes of reuniting with long-lost relatives, and not AncestryDNA that investigators were able to solve the cold case.

Charles felt a pang of relief. She knew that she had the potential to discover surprises, even those of a criminal nature, in her genetic history. Indeed, since April at least six more cold cases have been solved by matching crime-scene DNA to genetic information posted by relatives on GEDMatch. In July, for example, such advances in genealogy technology led to the arrest of John D. Miller for the murder and mutilation of 8-year-old April Tinsley, a crime that had otherwise remained unsolved for more than 30 years.

“It makes me a little nervous, not in the sense that this technology is being used to stop violent criminals, but whether law enforcement will know when to stop,” says Charles. “Will it just be used to catch murderers? Or will it be used to catch protesters one day, too?

***

Share your genetic information with a site like GEDMatch and you’re fully aware that you’re publicizing it. But what about using one of several DNA kits on the market today? If you spit in a tube and send it away, will your personal information stay private?

The answer is: it depends. Like any consumer good, participation in a genealogy service is contingent on the user’s agreement to its privacy contract. Tucked discreetly in the legalese of these policies, you will find a line indicating your consent to sharing de-identified genetic data with unnamed “third-parties.” While this shared information may be stripped of personal identifiers such as your name or location, some question whether individual privacy can truly be preserved.

There are two key players who dominate the genetic testing field today—and they both insist it can be: Ancestry.com, via its AncestryDNA unit, and 23andMe, the California biotech company led by Anne Wojcicki. In the last few years, both have experienced serious booms in business. In March, AncestryDNA, which launched in 2012 (its parent company was founded in 1983), announced that it had tested nearly 10 million people, claiming the title as the world’s largest genealogy company. (In 2016, the privately held company was reported to be valued at $2.6 billion.) Rival 23andMe says it has tested more than five million people, according to 2018 company reports, and was reportedly valued at $1.5 billion at the end of last year.

Both companies have managed to capitalize on increasing demand in a relatively new market, but they differ in purpose and thus present different ethical dilemmas when it comes to considerations of privacy. Where AncestryDNA offers information solely on a person’s ancestral heritage, 23andMe takes it one step further—providing the consumer with data on their genetic predisposition or risk of acquiring certain diseases in the future. Those results could warn individuals of potential medical issues. But, if, as some fear, that information were de-identified and shared—particularly with insurers and employers —it could put those people, and their family members, at risk of medical discrimination.

Charles weighed those hypotheticals. While worrying, she was still curious and sent off another sample, this time to 23andMe, in late July. She hasn’t yet received the results: “I do still have some anxiety about it,” Charles admits. “But there’s really not a lot of privacy left with today’s technology, so I thought, ‘Let’s throw caution to the wind.’”

In this era of dwindling privacy, human DNA is perhaps the last frontier. And the burgeoning group of companies that sequence, store and interpret that DNA operate in a largely uncharted territory, somewhere between the realm of lightly regulated consumer goods and highly regulated medical services.

Direct-to-consumer genetic testing companies like 23andMe must win FDA approval to send individuals medical risk findings, while companies that involve physicians in the process do not. But unlike healthcare providers, direct-to-consumer genetic testing companies are not bound by HIPPA, the law that protects the privacy of personal medical information, and there are few laws in place to regulate the privacy of genetic information obtained by these companies.

“One of the big distinctions between medical research and data in Silicon Valley is the ethical framework that requires informed consent,” said Charles Seife, a professor of journalism at New York University who writes extensively on the genetic testing industry. “It is a difference of making sure that [privacy] rights are being preserved.”

Although 23andMe’s privacy policy vows that personal genetic information will never be distributed without explicit written consent, the company does “use and share aggregate information with third parties,” the policy states. That means they only share customers’ genetic information once it has been pooled together and de-identified.

While 23andMe says the majority of these third party entities are research partners—it recently inked a $300 million deal with British pharmaceutical giant GSK, which will use genetic data for drug discovery, for example—the company’s website notes such exchange may take place “to perform business development, initiate research, send you marketing emails and improve our services.”

Even though this aggregate data is anonymized, experts question whether privacy is truly protected.

“They will strip the data of identifiers, but if this is going to be useful for medical research, there will necessarily be information about your age, your height, your weight, where you live, maybe where you were born, and any diseases you may have,” says Hank Greely, director of Center for Law and Biosciences at Stanford. In other words, he says, “Your information might be personally identifiable.”

Even so, Greely sent his genetic information to AncestryDNA. Although he acknowledges the danger of re-identification, the bioethicist questions whether the risk of his genetic information being made public is anything more than a theoretical concern.

“I don’t know how realistic a threat this is. Is anybody going to really care,” wonders Greely. “Maybe if somebody thinks that Steph Curry is in this database they’re curious to identify him and see what makes his jump shots so good.”

But other experts see the risk of re-identification as a direct threat to personal liberty. Joel Reynolds, a post-doctoral fellow of bioethics at the Hastings Center, fears that most consumers are unlikely to grasp the nuanced threat that medical genetic tests like those offered by 23andMe could pose to their future privacy.

“This is complicated stuff for professionals who are developing the technology and have been working in the field for years,” says Reynolds. “I’m a little worried that people are not fully understanding the meaning of it.” (In an effort to research the ethics of genealogy services fairly and completely, the bioethicist decided to put his own private medical data on the line and took a 23andMe exam.)

An overwhelming majority of consumers are willing to share their DNA for research purposes under the assumption that it is for a greater good. According to 23andMe, nearly 80% of its users actively opt to donate their data for “research purposes.” But while the general assumption suggests that such science is for a greater good, bioethicists warn that may not always be the case.

“Most people are going to be happy to contribute to medical research,” says Greely. “But what if somebody wants to do research on race and intelligence?”

Reynolds voices similar concerns, explaining that scientific research on race is often misunderstood and misinterpreted.

“One very complicated facet of genetic research is the fact that racial categories that people use in everyday speech and that are part of our culture mean something very different when they get used in this research,” says Reynolds.

“You get into a weird situation where the belief that particular races have particular health risks and are going to have particular health consequences,” he explains. “That belief can easily turn into very pernicious racist ideas that certain races have X, Y and Z health problems and that is simply not what the research says.”

But perhaps the most troubling threat of third party sharing is the possibility that a consumer’s genetic data—shared in the name of research—might one day be used for non-research purposes.

Ancestry’s spokesperson offered these assurances: “We do not and will not sell DNA data to insurers, employers, health providers or third-party marketers and will only share DNA data with researchers if the customer has consented.” Similarly, 23andMe maintains that sharing only happens with consent and that law enforcement agencies must have a court order to access specific data.

While for now privacy policies seem to offer customers a degree of protection, it is worth noting that these policies are legally allowed to change at any time. Ancestry’s 16-point privacy policy, for instance ends with this caveat: “We may modify this Privacy Statement at any time.” That’s perfectly legal, and it’s what worries experts.

“Today, there are open doors to certain types of genetic discrimination that we simply do not have legal protections for,” says Reynolds. “This is very high stakes.”

Seife, the New York University journalism professor agrees the nation’s existing laws to prevent genetic discrimination are weak and unlikely to hold in practice. “If genomic information is out there, why wouldn’t an insurer take a look at someone’s genome before putting them in their risk pool?”

He adds, the threat is not in the “Gattaca remote future. It’s in the here and now.”

As Charles awaits her latest set of genetic test results, she still harbors reservations but is bargaining for a bit more time.

“I had to take privacy policies at face value in order to be able to send my tests in,” says Charles. “I guess we’ll find out in 5 to 10 years if they were true.”