ABSTRACT:For more than half a century, we have lived in a world dominated by the idea that the gene is the central and primary agent in biology, an era some have called the "Genetic Age." Each decade since the discovery of the double-helical structure of DNA in 1953 has seen scientific advances in genetics, discoveries that have led to at least 17 Nobel Prizes. Although the time span occupied by the Genetic Age has also been a time of great public health advances, no advance in human molecular genetics can be shown to have had any measurable effect on any public health parameter of importance. It is hard to think of another field of biomedical research in which such massive public fund investments have had less public health impact to date than human molecular genetics. The only arena in which precision medicine, with its reliance on human genomic information, is likely to be helpful, is selected inherited diseases. To measurably alter the health of the population, the focus of biomedical research should be on the molecular, cellular, clinical, and population effects of the external agents and exposures that drive the incidence of most health conditions.

中文翻译：

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人类分子遗传学尚未对可衡量的公共卫生进步做出贡献

摘要：半个多世纪以来，我们生活在一个以基因是生物学的核心和主要因素为主导的世界中，这个时代被一些人称为“遗传时代”。自 1953 年发现 DNA 的双螺旋结构以来，每十年都见证了遗传学的科学进步，这些发现导致了至少 17 项诺贝尔奖。尽管遗传时代所占据的时间跨度也是公共卫生取得巨大进步的时期，但人类分子遗传学的进步并未证明对任何重要的公共卫生参数产生了任何可衡量的影响。迄今为止，很难想象在生物医学研究的另一个领域，如此大规模的公共基金投资对公共健康的影响比人类分子遗传学还小。精准医疗的唯一领域，凭借其对人类基因组信息的依赖，很可能会有所帮助，被选中的遗传性疾病。为了显着改变人口的健康状况，生物医学研究的重点应该放在导致大多数健康状况发生的外部因素和暴露的分子、细胞、临床和人口影响上。