The human Genome Project and the future of medicine
The human Genome Project and the future of medicine
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DOI：
10.1111/j.1749-6632.1999.tb08532.x
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发表时间：
1999-01-01
期刊：
影响因子：
--
通讯作者：
Collins, FS
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文献类型：
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作者：
Collins, FS
负责美国国立卫生研究院(NIH)专注于完成人类基因组计划的部分，需要为合适的人提供资金，并追究他们的责任--不仅要按时完成工作，而且要以如此规模的项目预期的规模经济来完成工作。大体上，事情发展得很好。基因组计划从一些优秀的顾问那里受益匪浅，包括本届会议的主席大卫·波特斯坦。你已经听到了对孟德尔遗传学原理和基因测绘和测序的非常雄辩的描述--不仅是导致疾病的基因，而且还有其他98%的基因组。我的任务是研究这个项目的医学后果。在这样做的同时，我将谈一谈过去和现在，但主要是关于未来，因为这是一个具有前瞻性的研讨会。我要说的是，正如前面两位演讲者所说的那样，我们正在开始一场真正的遗传学革命，这场革命将进入医学实践的每一个角落：诊断学、预见学、治疗学，以及其他领域。我们目前对医生的培训并没有让他们为这门新科学做好充分的准备，我也会在这个主题上喋喋不休地讲(尽管可能比波特斯坦博士稍微温和一些--只是因为这是我的本性，而不是因为我对这个问题不那么热衷)。我的基本前提是，每种疾病(除了一些，但不是所有的创伤病例)都有一个基因成分。这一前提与医学遗传学的更经典观点相冲突，医学遗传学是致力于研究罕见的孟德尔疾病或独特的染色体异常的专业，而大多数医生在日常工作中不太可能遇到这些疾病。这一前提并不新鲜，因为人们一直都知道，几乎每种疾病都有在家族中追踪的趋势。改变的是，直到最近，我们还认为我们对这类疾病无能为力，但现在我们开始看到基于基因发现的可能的治疗方法，这将改变医学的实践方式。
Being in charge of that part of the National Institutes of Health (NIH) that is focused on getting the Human Genome Project done involves funding the right people and holding them accountable—not only to complete work on time but also to accomplish it on an economy of scale one expects with a project of this size. By and large, things have worked out well. The Genome Project has benefited greatly from some excellent advisers, including the chair of this session, David Botstein. You have already heard a very eloquent description of the principles of Mendelian genetics and the mapping and sequencing of genes—not only the genes that cause disease, but also the other 98% of the genome. My task is to look at the medical consequences of this project. As I do so, I will talk a little about the past and present, but mostly about the future, because this is a symposium that is looking forward. I will argue, as have the preceding two presenters, that we are embarked upon a genuine revolution in genetics that is going to find its way into every nook and cranny of the practice of medicine: diagnostics, prognostics, therapeutics, and the rest. Our current training of physicians does not prepare them well for this new science, and I will harp on that theme as well (though perhaps slightly more gently than Dr. Botstein did—more gently only because that’s my nature, not because I feel less passionately about the problem).My basic premise—and I challenge you to disagree with me—is that every disease (except some, but not all, cases of trauma) has a genetic component. This premise conflicts with the more classic view of medical genetics as a specialty devoted to the study of rare Mendelian disorders or unique chromosomal abnormalities that are unlikely to be encountered by most physicians in their daily practice. This premise is not new, because it’s been known all along that virtually every disease has a tendency to track in families. What has changed is that, whereas until recently we thought we could do little about such disorders, we are now beginning to see possible therapeutic approaches based on gene discoveries that will change the way medicine is practiced.