医务人员作为遗传基因信息保护人的角色

tpwang

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《柳叶刀》发表一篇社论，支持美国FDA专家组关于基因检测公司对消费者的“直销”需要由医务人员来监督的建议。医学上如何利用人体基因谱信息还“没谱”，商业行为已经在流行了。基因治疗因为前些年的事故以及一些技术问题，一直没有人们期待的突破。但基因检测作为一种技术，具有很明显的商业利用价值和操作便利。所以有所谓direct to consumer的“直销”模式。这里面牵扯到的技术问题还很多，比如如何解读并使用这些信息，消费者拿到这些信息会对医疗实践产生什么影响，医疗体系主要是大夫是否准备好整合这种服务，甚至是否要直接参与基因检测的决定等。干细胞作为继基因热之后的另一个所谓生物医学前沿，也在很大程度上有类似之处。比如，生物医学界和医学临床对干细胞本身及其价值仍只有非常粗浅的认识，但一些所谓“安全”干细胞甚至一些打着干细胞旗号的非干细胞商业操作，甚至超越了基因诊断的商业活动。当然，基因检测不涉及治疗，比较容易作为一个消费者产品来推广。不过干细胞概念也很容易在一些方面被商业化利用和“忽悠”，可以预见随着干细胞尤其是成体干细胞制备技术和条件的标准化和操作门槛降低，会有更多纯商业的利益驱动来利用干细胞的概念。在干细胞研究和医学临床还没有建立成型的干细胞应用体系之前，这些纯商业化的操作将会具有非常大的风险，不仅是直接损害消费者的利益，而且对干细胞科研、临床应用和产业化带来巨大的风险。
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; s9 R' Q. F2 {( [1 k. v' _更有甚者，干细胞似乎比基因更具有“可忽悠性”。临床上不够规范的使用还只是一方面，打着干细胞美容、保健、抗衰老，甚至提高机能等幌子的“忽悠”确实比基因这个似乎大众更不容易理解的概念更方便，或者是因为干细胞热有点扇乎过头了。3 G2 ^) I/ F* g. r6 ?; Q/ ]% A
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说到底，跟这篇社论最后所提到的基因诊断的一个关键问题一样，医务工作者在多大程度上准备好了接受基因诊断这个新事物，还是个很大的问题。同样的问题也可以问干细胞，从概念上现有的一生们多大程度上有必要的合理的理解，也是个很大的问题。说得再进一步，搞干细胞研究的人们多大程度上对干细胞有一个清醒的认识，大概也不敢太乐观。
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) a) P8 P9 n5 e- n# ?虽然说新生事物总要有个发展过程，但发展应该有序。除了科学研究本身的有序，相关职业的态度和操守，监管制度的跟进和完善，消费者的成熟都是需要大量工作的。
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Physicians as guardians of genetic knowledge
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5 R8 a$ g# V/ A! C- a  e. dThe genetic revolution in medicine, envisaged since the completion of the draft sequence of the human genome over a decade ago, is moving forward at a painfully slow pace. Although truly personalised care is, perhaps, still decades away, private companies have been quick to exploit the genetic information that has become available from the Human Genome Project. The past 5 years have seen a proliferation of personal genetic tests, which promise to predict risk for an array of complex conditions such as type 2 diabetes and Parkinson’s disease, determine drug or food metabolism, or uncover carrier status for inherited diseases. And although the predictive power of some of these tests is questionable, they have been off ered directly to consumers, who send off a swab of saliva or a blood sample (and US$200–$2000, depending on the test) in return for their genetic risk profi le. Last week saw a new development in the regulation of these tests in the USA. An expert advisory panel of the US Food and Drug Administration (FDA) recommended that direct-to-consumer (DTC) genetic tests be subject to medical supervision; interpreted, and possibly also ordered by doctors, rather than by the lay public. The FDA has so far indicated that it might require physicians’ involvement for some, but not all, types of genetic test. 0 d' o5 h% {/ F' A' J$ V8 {

$ `* C+ \# V. NThe advice of the advisory panel is wise and will be welcomed by many health professionals concerned about the eff ect of such tests on consumers, as well as the dubious claims made by some manufacturers. Last year, an undercover investigation by the US Government Accountability Offi ce (GAO) found examples of “deceptive marketing” by companies selling DTC tests, including claims made by four companies that consumers’ DNA could be used to create personalised supplements to treat diseases. The clinical validity of some tests has also proven problematic. The GAO’s investigation showed that disease risk predictions varied across companies for identical DNA samples. One DNA donor, for example, was told that he had below average, average, and above average risk for prostate cancer and hypertension by diff erent companies. Whether doctors become the guardians of genetic tests or not, tighter federal regulation will be needed to ensure companies that do market products are making clinically valid claims. A registry for genetic tests that is being developed by the US National Institutes of Health should help towards this goal.
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There are also question marks over the clinical utility of some DTC tests. For example, can anything useful be done with the information gleaned from disease susceptibility tests? After all, most of the interventions for reducing the risk of complex diseases are the same as those that physicians will recommend to all patients—eg, maintain a healthy weight, eat healthily, exercise, and refrain from drinking excessively and smoking. There is also some evidence to suggest that knowledge of disease risk might not hold much extra sway with patients in terms of leading a healthy lifestyle. A paper in the New England Journal of Medicine published in January showed that there were no short-term measurable changes in diet or exercise or use of screening tests in a selected group who underwent DTC genome-wide profi ling. Some have argued, however, that it could take many years to show improved health outcomes for genetic tests intended to assist in the prevention and treatment of chronic diseases. In view of this situation, the American Heart Association has urged the FDA “to allow tests with clear clinical validity to be marketed even if their use has not been shown to result in improved clinical outcomes”.
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# R9 V: R0 z6 {, tIn the future, full genome sequencing might prove a valuable adjunct to clinical care, especially in tailoring drug treatment, as reported in an Article by Euan Ashley and colleagues published in The Lancet last year. Some companies already off er near full or full genome sequencing for consumers but at a prohibitively high price for the general public ($10 000–40 000). However, the costs are expected to come down considerably in the next 5 years to around $1000. - n, s7 ?9 H' k- A
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Are doctors prepared for the increasing use of genetics in clinical care? Some evidence suggests not. A 2009 survey of more than 10 000 US physicians by the American Medical Association showed that only 26% had any type of education in the use of genetic testing to guide treatment decisions. And only 10% felt they had the necessary training and knowledge to put pharmacogenetic testing to good use when treating patients. Medical schools and professional organisations will have an important part to play in improving this situation. Doctors will have to become increasingly adept at not only using genetic tests in clinical care but also at explaining their results and, importantly, their limitations to patients.' b. C7 i  W& }9 V8 D6 l- J" G

# P: J+ U9 P( Y; i6 ]. k感谢nero 1981网友提供杂志原文。% c+ c% w' \" o, h8 p
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