美國爲新一波人類基因組分析浪潮做好準備
WASHINGTON — The federal government opened the door to a new era of genetic medicine on Thursday by introducing a standard way to ensure the accuracy of DNA tests used to tailor treatments for individual patients.
華盛頓——星期四，美國聯邦政府提出了一種標準方法，用於確保患者定製個體化治療時的DNA檢測的準確性，可以說，此舉打開了通往基因藥物新時代的大門。
Scientists have identified hundreds of genetic mutations that appear to increase the risk of diseases, including cancer, Alzheimer’s and cystic fibrosis. But laboratories often report different results when they analyze genes obtained from samples of the same blood or tissue, because of variations in their testing equipment and methods.
科學家們現已識別出數百個可能增加特定疾病（包括癌症、阿爾茨海默氏症、囊性纖維化等）風險的遺傳突變。但是，由於不同的實驗室在檢測設備和方法上的差異，他們在分析從同一血液或組織樣本中提取的基因時，常常會報告不同的結果。
The National Institute of Standards and Technology said Thursday that it had developed “reference materials” that could be used by laboratories to determine whether their machines and software were properly analyzing a person’s genetic blueprint, or genome.
美國國家標準技術研究所(National Institute of Standards and Technology)在週四宣稱，自己開發出了“基準材料”，各實驗室可使用它來確定自己的儀器和軟件能否正確地分析一個人的遺傳藍圖，也就是基因組。
The institute disseminates such reference materials for thousands of products including steel, concrete and peanut butter. These materials are used for myriad purposes — to calibrate instruments, to make sure buildings are safe, to ensure that nutritional labels are accurate.
該研究所將基準材料推廣到了鋼鐵、水泥和花生醬等數千種產品，使用它們來實現各式各樣的目的，如校準儀器、確保建築物的安全性、確保營養標籤的準確性等等。
Laboratories can use the new DNA standard to make sure their genetic testing is accurate. If labs get the right answers for the reference material — by finding the same mutations in the same places, for example — they can be confident that their testing of patient samples is similarly accurate.
實驗室可利用這種新的DNA標準物來確保他們基因檢測的準確性。如果實驗室在檢測基準材料時得出了“正確答案”——例如，在同樣的位點發現了同樣的突變，則可以認爲他們測試患者樣本時也具有類似的準確性。
The devices used by the laboratories, known as DNA sequencers, have greatly accelerated biomedical research and discovery, allowing scientists to pinpoint mutations and devise treatments tailored to the genetic characteristics of individual patients. Such tests and treatments, developed in research laboratories, are quickly moving into the practice of medicine.
在實驗室中，承擔這類工作的設備稱爲DNA測序儀，有了它，科學家們就可以精確地定位突變，並針對患者個體的遺傳特徵量身打造個性化治療，極大地促進了生物醫學研究和發現。這類測試和治療方法雖誕生於研究性實驗室，但很快就進入了醫療實踐領域。
In his State of the Union address this year, President Obama announced a “precision medicine initiative” to foster the development and adoption of such customized treatments.
在今年的國情諮文中，奧巴馬總統宣佈了“精準醫療計劃(precision medicine initiative)”，旨在促進此類定製治療方法的開發和應用。
For $450, scientists and laboratories can now buy a vial of the reference material from the national standards institute, a unit of the Commerce Department. The material, for sale on the agency’s website, includes 10 micrograms of DNA from a Utah woman of European ancestry. That is enough for numerous tests.
這種基準材料在美國商務部的下屬單位美國國家標準學會(national standards institute)的網站上銷售，現在，科學家們和實驗室花450美元就可以買到一小瓶，其中含有來自猶他州的一名歐洲血統女子的10微克DNA，足夠完成多次檢測。
“If you send a sample of blood or a tumor biopsy to different genetic testing laboratories, you can get different results,” said Marc L. Salit, the leader of a genome measurement group at the institute. “While largely in agreement, they may have significant differences. Now, for the first time, we have a standard to check the reliability and quality of gene sequencing.”
“如果你把一份血液或腫瘤活檢樣本送到不同的基因檢測實驗室，你可能會得到不同的結果，”該研究所基因組測定小組的負責人馬克·L·薩利特(Marc L. Salit)說。“雖然它們在大體上是一致的，但仍可能存在顯著差異。現在，我們第一次有了一個可以檢查基因測序質量和可靠性的（統一）標準。”
A laboratory can use the samples to demonstrate the quality of its work, and health insurance companies can have confidence in the results, increasing the likelihood that they will pay for genome-sequencing tests, Dr. Salit said. Costs have come down in recent years, he added, but it still costs about $5,000 to analyze and interpret a whole genome.
薩利特博士說，實驗室可以使用該樣本證明自己工作的質量，醫療保險公司也會對檢測結果更有信心，爲基因組測序檢測付費的可能性也就更大。他還補充道，雖然近年來測序成本有所下降，但全基因組的分析和解讀仍需要5000美元上下。
Elizabeth A. Mansfield, a geneticist at the Food and Drug Administration who supervises its work on personalized medicine, said the reference material could lead to “better instruments and better tests.” As a result, she said, “health plans may be more willing to pay for such tests.”
美國食品和藥品監督管理局(Food and Drug Administration, F.D.A.)的遺傳學家伊麗莎白·A·曼斯菲爾德(Elizabeth A. Mansfield)負責監管個體化醫療方面的工作，她表示基準材料將會“改善儀器和檢測”。這樣一來，“醫保計劃將更願意爲此類檢測付費。”
The F.D.A. worked with the standards institute to develop the DNA reference material, which gives regulators a new tool to assess the accuracy of tests.
該DNA基準材料由F.D.A.和標準學會聯合開發，它也給了監管部門一個評估檢測準確性的新工具。
“An inaccurate genome-sequencing test can lead to patients receiving the wrong diagnosis, the wrong treatment or no treatment at all, even when effective therapy is available,” said Dr. Jeffrey E. Shuren, director of the F.D.A. Center for Devices and Radiological Health. Accurate tests have become more important, he said, as treatments are increasingly based on the type of mutations detected in genetic testing.
F.D.A.醫療器械和輻射健康中心(Center for Devices and Radiological Health)主任傑弗裏·E·蘇瑞(Jeffrey E. Shuren)說：“不準確的基因組測序檢測可導致患者受到錯誤的診斷、接受錯誤的治療或是在明明存在有效治療手段之時未能得到治療。”他還說，由於治療方法正越來越多地以基因檢測發現的突變類型爲依據，基因檢測的準確度正變得日益重要。
Dr. Francis S. Collins, director of the National Institutes of Health, said that information from the tests could benefit patients in many ways. “For example,” he said, “an oncologist might use the results of a sequencing scan to choose the chemotherapy drug that is most likely to work.”
美國國立衛生研究院(National Institutes of Health)院長法蘭西斯·S·柯林斯(Francis S. Collins)博士表示，在基因檢測中獲得的信息可以從諸多方面爲患者提供助益。“例如，腫瘤科醫生可以使用測序結果來選擇效果可能會最好的化療藥物。”
The regulation of DNA tests and technology is complicated and in flux.
DNA檢測及其技術的監管非常複雜，而且變來變去。
One agency, the Centers for Medicare and Medicaid Services, regulates and certifies clinical laboratories under a 1988 law. The F.D.A., a sister agency in the same department, regulates manufacturers and has authority over the actual tests. The food and drug agency has historically refrained from enforcing some of its requirements for “laboratory-developed tests,” including many genetic tests, but it proposed to overhaul and tighten regulation of these products last year.
根據1988年的法律，醫療照護和醫療救助服務中心(Centers for Medicare and Medicaid Services)負責臨牀實驗室的管理和認證。而與該機構隸屬同一部門的姐妹機構F.D.A.則負責監管制造商和已經實用的檢測。F.D.A.歷來未曾強制執行其對“實驗室開發的檢測”（包括許多基因檢測）的一些要求，但該機構在去年提出，應整頓和加強對上述產品的監管。
The new reference material is for tests that use advanced technology — “next-generation sequencing” — to analyze a person’s DNA. Such tests are generally interpreted by doctors or genetic counselors and not sold directly to consumers.
新推出的基準材料適用於採用了先進的“下一代測序”技術來分析個人DNA的檢測。此類檢測的結果通常不會直接出售給消費者，而是需要經過醫生或遺傳諮詢師的解讀。
In 2013, the food and drug agency told a Silicon Valley company, 23andMe, to stop selling health information reports that interpreted a person’s DNA. In February, it allowed the company to offer a direct-to-consumer test to help identify carriers of a gene linked to a specific rare disorder, Bloom syndrome.
2013年，F.D.A.通知硅谷的23andMe公司暫停銷售含有經解讀的個人DNA信息的健康報告。今年2月，該機構卻又批准這家公司提供一種直接面向消費者的檢測，以幫助識別與一特殊的罕見疾病——布盧姆綜合徵(Bloom syndrome)相連鎖的基因的攜帶者。
The food and drug agency, expecting a wave of new technology to analyze the human genome, helped finance the work of scientists and engineers at the standards institute in Gaithersburg, Md.
F.D.A.預計，新一波的人類基因組分析浪潮即將涌現，併爲馬里蘭州蓋瑟斯堡市標準學會的科學家和工程師們的工作提供了部分資助。
