Will Precision Medicine Improve Population Health?
Will Precision Medicine Improve Population Health?
复制标题
精准医疗会改善人群健康吗？
DOI：
10.1097/01.ogx.0000511937.49229.57
复制
发表时间：
2016
影响因子：
6.2
通讯作者：
S. Galea
中科院分区：
文献类型：
--
作者：
M. Khoury;S. Galea
本文讨论了精准医疗倡议在改善人口健康方面的利弊。有人指出，精准医疗可能无法改善人口健康，主要原因有三个。第一个原因是疾病的发病机制异常复杂，特别是那些属于非传染性类别的疾病。许多特定基因与肥胖、高血压和某些癌症等疾病之间的关联说明了这一点。版权所有。16 .妇产科调查意见。其次，精准医疗的基本前提是，它可以帮助识别疾病的预测因素，以指导干预。这将是具有挑战性的，因为尽管人口研究可以确定基因型和表型之间的关联，但由此产生的关联预测个体表型的能力有限，并且需要明显更强的关联才能提供足够的证据来改善个体疾病的预测。第三，关于精准医疗计划的一个假设是，当以一种准确的方式预测风险时，人群中的疾病就可以预防，因为个人会通过改变行为来采取预防措施。然而，目前的科学证据与这一假设相矛盾。此外，据推测，精准医疗计划可能会分散美国国家卫生研究议程在解决贫困、肥胖、教育和婴儿死亡率等健康不良根源方面的注意力。因此，资助机构的重点转移以及之前类似的努力没有达到预期的记录，抑制了人们对精准医疗的热情。然而，考虑到精准医疗驱动的积极方面，提出了以下几点。人口健康规划要求为面临风险的群体正确输送和有效利用资源。为此目的，将人口划分为几种慢性病的危险群体，可以以较低的成本提供有效的预防和治疗政策。一个恰当的例子是根据年龄和多基因风险评分将妇女分为乳腺癌筛查的风险类别。研究证据表明，通过新生儿筛查计划和基因干预，如遗传性乳腺癌和卵巢癌综合征、Lynch综合征和家族性高胆固醇血症等疾病，以基因为目标的人群健康方法具有明显的益处。精确公共卫生的一个重要应用是在传染病的检查和控制中使用基因组学，这反过来又对包括环境、农业、动物卫生和生物技术在内的其他经济部门产生影响。因此，人口健康的未来在于综合实施各种办法，从全民干预措施到适应高危群体需要的具体干预措施。
This article discusses the pros and cons of the precision medicine initiative in the improvement of population health. It has been stated that precision medicine may not improve population health primarily due to 3 reasons. The first reason is the unusual complexity of pathogenesis of diseases, particularly those that belong to the noncommunicable category. The association between many specific genes and conditions such as obesity, hypertension, and some cancers is illustrative of this Health, Inc. All rights reserved. 16 Obstetrical and Gynecological Survey opinion. Second, the fundamental premise of precision medicine is that it can help identify predictors of disease to guide interventions. This would be challenging to accomplish because although population studies can identify associations between genotypes and phenotypes, the consequent associations would have limited ability to predict phenotype in individuals, and it would take significantly stronger associations to provide adequate evidence to improve prediction of diseases in individuals. Third, an assumption about the precision medicine initiative is that disease in a population can be prevented when risk has been predicted in an accurate manner, because individuals would take precautionary measures by resorting to behavioral changes. However, the present scientific evidence is found to be contradictory to this assumption. Furthermore, it is postulated that the precision medicine initiativemay be a distracting factor in the efforts of the US national health research agenda in addressing the root causes of ill health such as poverty, obesity, education, and infant mortality. Shifts in the focus of funding agencies and record of similar previous endeavors that did not live up to the expectations have thus dampened the enthusiasm for the precision medicine drive. However, considering the positive aspects of the precision medicine drive, the following points have been put forth. Planning for the health of the population necessitates the correct channeling of and efficient utilization of resources for groups who are at risk. To this end, classification of populations into risk groups for several chronic diseases can provide effective prevention and treatment policies at lower costs. A case in point is the classification of women into risk categories for breast cancer screening based on age and polygenic risk score. Research evidence reveals that a genetically targeted approach to population health by means of newborn screening programs and genomic interventions for conditions such as hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia has discernible benefits. A vital application of precision public health is the use of genomics in the examination and control of infectious diseases, which in turn has implications in other economic sectors including the environment, agriculture, animal health, and biotechnology. Thus, the future of population health lies in the implementation of a combination of approaches ranging from population-wide interventions to specific interventions adapted to suit the needs of higher-risk groups.
DOI：
10.1001/jama.2016.4226
发表时间：
2016-04-26
期刊：
JAMA
影响因子：
--
作者：
Chetty R;Stepner M;Abraham S;Lin S;Scuderi B;Turner N;Bergeron A;Cutler D
通讯作者：
Cutler D
影响因子：
28.4
作者：
Maas P;Barrdahl M;Joshi AD;Auer PL;Gaudet MM;Milne RL;Schumacher FR;Anderson WF;Check D;Chattopadhyay S;Baglietto L;Berg CD;Chanock SJ;Cox DG;Figueroa JD;Gail MH;Graubard BI;Haiman CA;Hankinson SE;Hoover RN;Isaacs C;Kolonel LN;Le Marchand L;Lee IM;Lindström S;Overvad K;Romieu I;Sanchez MJ;Southey MC;Stram DO;Tumino R;VanderWeele TJ;Willett WC;Zhang S;Buring JE;Canzian F;Gapstur SM;Henderson BE;Hunter DJ;Giles GG;Prentice RL;Ziegler RG;Kraft P;Garcia-Closas M;Chatterjee N
通讯作者：
Chatterjee N