【龍騰網】個性化醫療：醫療越來越注重個性化

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Neena nizar is 42 years old, a professor of business studies and just 122cm tall. The ends of her bones are soft and pliable: on an x-ray they look frayed, like old paintbrushes. During her childhood and adolescence in Dubai she was operated on 30 times. The source of her problem remained a mystery. In 2010, after three decades of wondering, she finally received a diagnosis: Jansen’s Metaphyseal Chondrodysplasia, a condition first recognised in the 1930s. Her problems stem from a broken copy of just one of her 20,000 genes.
妮娜·尼扎爾今年42歲，職業是商學教授，身高只有1米22。她的骨端柔軟易彎：在X光照片中就像磨損了的舊畫筆。在迪拜度過的童年和青少年時期，她曾做過30次手術，問題根源一直成謎。2010年，在迷惘了三十年後，她終於收到了診斷書：詹森型幹骺端軟骨發育不良，上個世紀30年代首次被公認的一種疾病。她的問題源於兩萬個基因中有一個基因的副本受損。
Dr Nizar is in some ways very unusual. Fewer than one in 200m people have the mutation to the PTH1R gene that causes Jansen’s disease. In other ways she is like everyone else. Although few people have a defect as debilitating, everyone’s health, and ill-health, is tied to the contents of their genomes. All genomes contain arrangements of genes that make psychological disorders, cancers, dementias or circulatory diseases either more of a problem or less of one. Everyone has genes that make them better or worse at metabolising drugs, more or less likely to benefit from specific forms of exercise, better able to digest some foods than others.
尼扎爾博士在某些方面十分特殊。詹森病是由於PTH1R基因突變所致，發生幾率不到兩億分之一。在其他方面，她與別人沒什麼不同。很少有人會有身體虛弱的基因缺陷，但每個人的健康與疾病都與基因組的構成有關。所有的基因組都包含能導致心理障礙、癌症、痴呆、循環系統疾病的基因排列，只是有輕重之分。每個人的基因決定著是否擅長代謝藥物，或多或少可能受益於特定的運動形式，消化某種食物的能力比別人更強。

Nobody knows exactly how many human genomes have been fully sequenced, and different sequencing procedures read the genome to different degrees—there are quick skims and painstaking philological studies. But the number is in the millions (see chart). By the 2030s genome sequencing is likely to be as routine in some places as taking a pin-prick of blood from a baby’s heel is today—it may even be part of the same procedure. Genome science is becoming a matter of practical medicine. New therapies that make it possible to adjust or edit this genetic inheritance are coming to market.
沒有人知道究竟有多少人類基因組被完整測序過，不同的測序流程解讀基因組的程度不同——這方面既有簡報，也有細心的文獻研究，但被測序過的基因組多達上千萬。預計到本世紀30年代，某些國家的基因測序會像當今針刺採集嬰兒的足跟血一樣普遍——甚至可能採取同一測序流程。基因科學正在成為一門實用醫學，新療法即將走向市場，使調整或編輯基因遺傳成為可能。
This flood of data is allowing medicine to become more precise and more personal—in many ways, the p-words are two sides of the same coin. Previously recognised genetic diseases, such as Jansen’s, have been traced to specific genes and can be connected to defects in the proteins they create (almost all genes describe proteins, and proteins do almost all the body’s chemical work). Most of these diseases are rare, in that they typically affect no more than one person in 2,000 in the general population. But with over 6,000 such rare diseases now recognised, this means they are common in the aggregate. In Britain one in 17 people can expect to suffer from a rare disease at some point.
海量數據正在使醫療變得更加精準，更具個性化——在許多方面，精準和個性化密不可分。過去公認的遺傳病是由於特定基因所致，例如詹森病，可能與有缺陷的蛋白質產物有關（幾乎所有基因表達的產物都是蛋白質，蛋白質參與人體幾乎所有的化學反應）。多數遺傳病是罕見的，在普通人群中，發病率一般不超過兩千分之一。但目前公認的遺傳病有6000多種，這意味著在總體上是普遍的。在英國，每17個人當中就有1個人可能在某個時候患上罕見疾病。
Studies of genetic diseases are not just a worthwhile end in themselves. Understanding what goes wrong when a specific protein is out of whack can reveal basic information about the body’s workings that may be helpful for treating other ailments. And the growing understanding of how large sets of genes may contribute to disease is making it possible to pick out the patients most at risk from common diseases like diabetes, heart conditions and cancer. That will help doctors personalise their interventions. In theory, the rise in access to personal genetic information allows individuals to better calculate these risks and to take pre-emptive action. In practice, so far, few people seem to do so.
遺傳病研究的價值不僅在其本身，瞭解特定的蛋白質出現異常會導致什麼問題，就能瞭解人體運行機制的基本信息，對治療其他疾病可能也有所幫助。越來越多地瞭解大批基因是如何引發疾病的，就有可能篩選出風險最高的普通病患者，例如糖尿病、心臟病、癌症，有助於醫生對患者進行個性化干預。理論上，獲取更多的個人遺傳信息能使個人更好地評估風險，採取預防措施。現實中，似乎很少有人這麼做。

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