Making Medicine More Precise
讓藥物更精準
By Gina Kolata

For three years, Dr. Robert Green, a researcher at Brigham and Women’s Hospital in Boston and Harvard Medical School, has been gathering genetic data on thousands of Alzheimer’s patients, trying to figure out whether genetic differences explain why the disease progresses over a quarter century in some people and kills others within five years. He still has only half of what he needs.
三年來，美國波士頓布萊根婦女醫院與哈佛醫學院研究員葛林博士蒐集數千阿茲海默症患者的基因資料，試圖釐清基因差異能否解釋為何某些患者的病症發展逾25年，另一些患者卻在5年內死亡。他只找到所需資料的一半。

The hope of scientists working on diseases like Alzheimer’s, diabetes and cancer is that the so-called precision medicine plan that President Obama has proposed would speed efforts to understand genetic variations within diseases. The plan would establish a coordinated way for researchers to get genetic and clinical data on a million people. It would cost $215 million in the next fiscal year.
研究阿茲海默症、糖尿病和癌症等疾病的科學家希望，美國總統歐巴馬提出精準藥物計畫能讓了解疾病遺傳變異的工作加快。這計畫建立協調合作，讓研究人員取得100萬人的基因和臨床資料，預計在下個會計年度花費2.15億美元。

“Everyone with every disease wants to do this,” Dr. Green said. “Is the Type 2 diabetes that results in the loss of a limb the same disease as the one that is easily controlled with diet? Right now, we lump them together.”
葛林說：「每個人不管生了哪種病，都會想這樣做。讓人失去手臂或腿的第二型糖尿病，跟可透過飲食輕易控制的一樣嗎？現在我們把兩者混為一談。」

The plan was shaped by a 2011 report from a National Academy of Sciences that urged the federal government to pour money into a new taxonomy of diseases that would define them by their molecular and environmental causes rather than their physical signs and symptoms.
這個計畫的概念源自2011年美國國家科學院一分報告，報告內容要求聯邦政府挹注資金研究疾病的新分類方式，以疾病的分子和環境因素定義疾病，不以疾病的身體徵象和症狀定義。

The committee contrasted two hypothetical patients. The first, with breast cancer, would today have her tumor analyzed to determine which drugs would probably work against it. She might also have genetic tests to reveal whether she had a risky gene mutation.
委員會用兩個假想的病人對比。第一個罹患乳癌，以目前醫療方式，她的腫瘤會被分析，以決定哪種藥也許能見效，她可能還會做基因檢測，檢查是否發生危險的基因突變。

The second patient would have Type 2 diabetes, “an imprecise category,” the report said. “No concrete molecular information is available to customize Patient 2’s therapy to reduce his risk for kidney failure, blindness or other diabetes-related complications.
第二個罹患第二型糖尿病，報告寫道：「這是不精確的分類，缺乏確切的分子資訊，無法針對第二名患者來治療，降低腎衰竭、失明或其他併發症風險。」

The goal of precision medicine is to give the diabetes patient – and many others – the same sort of molecular diagnosis and targeted treatment as today’s breast cancer patient.
精準藥物的目標，是讓糖尿病和其他疾病患者獲得跟目前乳癌患者同樣的分子檢驗和標靶治療。

Dr. Charles Sawyers, who is on the staff at Memorial Sloan Kettering Cancer Center in New York, said further progress on cancer – “the low-hanging fruit” – could be greatly accelerated with the proposed support.
在紐約史隆凱特林紀念癌症中心任職的索耶斯博士說，癌症研究的進步「像低垂果實般唾手可得」，有精準藥物計畫支持，進步會加快很多。

Some patients have benefited as doctors discover genes driving their tumor’s growth and prescribe drugs aimed at those genes. “No matter what tumor type you have, a certain percentage of patients, often a small percentage, have mutations that would likely result in a treatment that would work and that we never would have thought of,” Dr. Sawyers said.
有時，醫師發現是基因讓腫瘤長大，並針對那些基因開藥，病人因此受益。索耶斯說：「不管你得了哪一種腫瘤，部分患者（通常是一小部分）是因發生基因突變，可能讓醫師採取一種有效而且我們從沒想過的療法。」

He envisions not only more drug discoveries but also more widespread sequencing of patients’ tumors.
他希望學界不只發現更多藥物，還能更普遍地為患者的腫瘤基因定序。

The hope is that every disease has molecular underpinnings that, once understood, will lead to new treatments. And the accumulation of genetic and clinical data from as many as a million people may also help scientists figure out genetic features that predispose people to disease. That sort of work has been a focus at the Broad Institute in Cambridge, Massachusetts, where Dr. Sekar Kathiresan has tried to pull together genetic data.
科學家希望每種疾病都有相應的分子資料，一旦得知分子資料，就能採取新療法，此外還希望匯集多達100萬人的基因和臨床資料，有助找到使人容易患病的基因特徵。麻州劍橋市布洛德研究所一向專注於這種研究，所內的卡提爾森博士試著統整基因資料。

In one of his recent studies, he asked if HDL cholesterol, the so-called good cholesterol, really protects against heart disease or whether it is more like gray hair and aging.
他在近期一篇研究中問到：俗稱好膽固醇的高密度脂蛋白膽固醇（HDL）是否真能讓人不會得心臟病，抑或兩者關係比較像白髮與變老。

People get gray hair when they grow old, but gray hair does not cause aging. People with a lower risk of heart disease often have higher levels of HDL, but does HDL actually reduce their risk?
人們變老會長白髮，但長白髮不會讓人變老。心臟病風險低的人，通常體內HDL濃度高，但HDL真能降低心臟病風險？

To get an answer, Dr. Kathiresan and his colleagues needed data from more than 116,000 people in 20 studies.
卡提爾森和同事為得到答案，需要從20篇研究中取得11萬6000多人的資料。

In the end, Dr. Kathiresan’s team found that HDL did not directly protect against heart disease.
最後，卡提爾森團隊發現，HDL本身並不能讓人免於心臟病。

原文參照：
http://www.nytimes.com/2015/02/03/health/a-path-for-precision-medicine.html

2015-02-24聯合報/G9版/UNITED DAILY NEWS 李京倫譯 原文參見紐時週報十一版右