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美国国会开始调查“基因体检”
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收到国会信函的有基因体检方面的旗舰公司 23andMe (Google 创办人女友的公司), Navigenics, Pathway Genomics等。国会信件中声称：“科学家们对这类检测的准确性有顾虑。”
国内常说的“基因体检”在美国也叫DTC (direct-to-consumer genomic companies), 这些公司通过检查“正常人”的一些多态位点（SNPs)来推算该正常人得各种疾病的可能性或者风险性。因为是检测“正常人”的标本，不是病人标本，因此厂家想打擦边球，不用通过FDA报批。因为严格地讲，FDA主要是管理市场上用来治疗病人的药物和医疗仪器的安全性和可靠性的。
而且，所谓基因体检也有一定的科学依据：一些科学家通过用GWAS （全基因组多态相关比较研究）技术，的确发现有些遗传多态性于病人的某些疾病有关。我以前也写过文章对GWAS的科学价值持怀疑态度。因为通过这种方法找到的SNPs, 并不是病人特有的，正常人也有。所以通常的“基因体检”的结果表述方式就是：“因为查到你有XX突变，你患YY疾病的风险比正常人增加ZZ%"
这类“基因体检”（我觉得叫“基因算命”更贴切）实际上是科学发展不到位，市场行为超前与科学的一个产物。如果科学发展到位了，应该是通过一个检查，给出这样的检测报告：“因为查到你体内有XX突变，你患有YY病。“或者至少是：”因为查到你有XX突变，你患YY疾病的风险是80%".
为什么基因体检的科学还不到位？原因很简单，该检测的指标（基因多态性）和疾病没有直接联系。有的顶多是一些间接的联系。好比警察破案，有证人看到凶手是穿白衣服的，因此所有穿白衣服的就都成了嫌疑人。
中国最近也出现和不少“基因体检”的专业公司。用的技术比国外还简陋（没有做全基因组多态分析，而是只分析几个位点），可是市场比国外做得还红火，各种“白领套餐”“粉领套餐”都有。“中国有很多有钱人，他们十分关心自己的健康，也能够承受得了这样的豪华消费”。
于是，“赚有钱人的钱”就成了一个经营模式。去年回国（丢钱包的那次）我还在北京会见了一个国内做基因体检的公司创办人，那天（可能是丢了钱包的关系）我对她很不客气，直接表达了我对这类服务科学性的质疑，认为科学没有到位的产品或服务太早面世实际上是最大的商业风险。不过，在国内也很难说，“核酸”等各类补品还是很有市场的，因为中医强调的“预防为主”的概念给这些“补药”公司一个很强大的文化支撑。
在美国这类的直接对消费者的服务也没有医保付费，都是消费者自己掏腰包的。两年前，在冷泉港开The Biology of Genome的会议的时候，会议主持人就把23andMe, Navigenics, Decode等三家最有影响的公司主管请来“咨询”了一番，主要表达科学家对这类商业行为的“顾虑”。科学家们的顾虑主要是怕这样“夹生饭”样的产品和服务的推出可能会让消费者感觉“上当”，等以后科学到位，技术也成熟了的时候再推出产品和服务的时候，反而会遇到不必要的市场阻力了。
现在，国会也开始过问“基因体检”的事，看来这些公司有得应付了。
下面是有关的英文报道。
DTC Genomics Targeted by Congressional Investigation
By Turna Ray
NEW YORK (GenomeWeb News) – Pathway Genomics' attempt to market genetic tests at retail stores Walgreens and CVS/Caremark has not only invited regulatory action from the US Food and Drug Administration, but now it has raised eyebrows in the US Congress.
Henry Waxman, chairman of the House Committee on Energy and Commerce, announced today that the committee is investigating direct-to-consumer genomic companies. As part of that investigation, the committee has sent letters to three firms — Pathway Genomics, 23andMe, and Navigenics.
Decode Genetics, the Icelandic molecular diagnostics firm that runs a DTC genomics service in many US states, called DecodeMe, was not sent a letter.
According to a statement posted on the committee website, the letters were prompted by "recent reports that at least one of the companies is seeking to sell personal genetic testing kits in retail locations, despite concern from the scientific community regarding the accuracy of test results."
Congressional action comes after FDA last week sent a letter to Pathway concerning its announcement that pharmacy chain Walgreens would offer the firm's saliva sample collections kits related to its personal genomics service. That service tests people's predisposition for disease, gauges their pharmcogenomic drug responses, and conducts pre-pregnancy genetic testing.
In its letter to these companies, the House committee is requesting information on several aspects of the tests they sell directly to the consumer, including the specific diseases and drugs for which the services provide genomic risk data; policy documents and materials on genetic counseling or physician consultation; data showing the accuracy of the risk predictions delivered by these services; details on policies regarding handling of DNA samples; as well as documents relating to the services' compliance with FDA regulation.
The requested information, which includes documentations from Jan. 1, 2007 to the present, must be submitted to the committee by June 4, according to the letters.
Although the FDA has not issued any formal guidelines specific to DTC genomics firms, it has always said it has the authority to regulate these services. In comments to GenomeWeb Daily News sister publication Pharmacogenomics Reporter last week, Alberto Gutierrez, director of the FDA's Office of In Vitro Diagnostic Device Evaluation and Safety, said that long before Pathway decided to migrate its service from the internet to store shelves, the agency had been in discussions with players in the DTC genomics industry.
After receiving FDA's letter, Walgreens backed out of its plans with Pathway to sell the kits at its stores. Simultaneously, CVS/Caremark said it had intended to sell Pathway's saliva sample collection kits in a similar deal beginning in August, but now has put those plans on hold until regulatory issues are resolved.
In a blog post last week, Navigenics said that from the inception of the company it has sought "to work closely with regulators." The company pointed out that it has participated with others in the industry and the Personalized Medicine Coalition to set industry standards; agreed to not market its test to consumers but go through doctors in New York, which bans DTC marketing of genetic tests; and has obtained a laboratory license to operate as a DTC firm in California.
After receiving the letter from the House Committee on Energy and Commerce, Navigenics told Pharmacogenomics Reporter that Navigenics "has always followed [its] own policy of transparency and open communication with state and federal governments.
"In fact, we have already proactively engaged in conversations with key stakeholders in Washington this week, including with senior staff at the House Committee on Energy and Commerce a day before this letter was issued," said Amy DuRoss, Navigenics VP of policy and business affairs. "We will be glad to respond to the Committee's requests in a timely fashion, and we look forward to further cooperation with committee members in the future."
Additionally, 23andMe issued a statement after receiving the letter from the House committee, saying, "We will comply with the Committee on Energy and Commerce's request for information. We look forward to sharing information detailing what individuals can learn about their own bodies through personal genetic testing and how our company is facilitating important scientific research in the field."
https://blog.sciencenet.cn/blog-290052-326902.html
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