Precision oncology: Directing genomics and pharmacogenomics toward reducing cancer inequities.
Precision oncology: Directing genomics and pharmacogenomics toward reducing cancer inequities.
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DOI：
10.1016/j.ccell.2021.04.013
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发表时间：
2021-06-14
期刊：
影响因子：
50.3
通讯作者：
Olopade OI
中科院分区：
文献类型：
--
作者：
Saulsberry L;Olopade OI
早在基因组学领域彻底改变健康状况之前，世界卫生组织就将健康公平作为一项全球政策优先事项，宣布“可达到的最高健康标准是每个人的一项基本权利”（世卫组织，1946年）。75年来，基因组技术的巨大进步促使越来越多的国家将健康权纳入国家宪法，表达了对健康公平的国家承诺。由于包括美国在内的大多数国家缺乏对健康的正式保护，将健康公平的价值观转化为基因组时代已被证明具有挑战性。尽管美国医疗体系中存在持久的健康差距，但健康公平性的进展落后于医疗质量改革的其他领域（IOM，2003; HHS，2018）。癌症仍然是世界各地疾病和死亡的主要原因，对某些人群造成不成比例的影响。肿瘤学一直是基因组医学的主要关注点：将基因组学应用于临床实践，以增强个性化医疗服务的提供（Cutler，2020）。癌症基因组学和药物基因组学研究分别调查可能影响癌症病因和药物反应的遗传差异。部分由于围绕基因组学作为对抗癌症的新武器的热情，基因组学的公众评价严重权衡了其在肿瘤学中的成功、挑战和失败（Shendure等人，2019年）。在这场基因组学革命中，癌症死亡率的种族差距仅略有缩小，而癌症死亡的社会经济不平等正在扩大，最明显的是可预防的癌症，如乳腺癌和结肠直肠癌（Siegel et al.，2019年）。利用基因组学来消除这种健康差异是许多雄心勃勃的期望之一，即破译遗传密码将如何改变人类疾病的预防，诊断和治疗。迄今为止，通过基因组医学催化癌症差异的大幅减少仍然遥不可及。尽管许多因素可能导致这种失败，但令人不安的是，缺乏研究表明基因组学在减少、加剧或创造新的健康差距方面的全部作用。鉴于围绕不同人群遗传变异研究的争议和缺乏方法学共识，这种对促进健康公平至关重要的研究的明显缺乏似乎并不令人惊讶。跨学科的研究人员（例如，人口遗传学，社会科学，公共卫生等）不同意人口标签的效用，如种族，民族，或基因组学研究中的遗传祖先，特别是考虑到具体化种族分类的生物基础的潜在风险。种族，不恰当地等同于遗传祖先，区分人口和机械地创造了一个等级制度的社会价值。这种指定的社会价值优先赋予一些人大量的资源和机会，这导致了癌症的不平等。
Long before the field of genomics revolutionized the health landscape, the World Health Organization exalted health equity as a global policy priority when it declared ‘‘the highest attainable standard of health as a fundamental right of every human being’’(WHO, 1946). In the 75 years since, enormous advancements in genomic technologies have paralleled the growing number of countries expressing a national commitment to health equity by incorporating a right to health into their national constitutions. With most nations, including the United States, lacking formal protections for health, translating the values of health equity into the genomic era has proved challenging. Though enduring health disparities have been documented within the US healthcare system, progress on health equity lags behind other areas of health care quality reform (IOM, 2003; HHS, 2018). Cancer remains a leading cause of illness and death around the world, disproportionately affecting certain populations. Oncology has been a primary focus for genomic medicine: the implementation of genomics into clinical practice to enhance delivery of personalized health care (Cutler, 2020). Cancer genomics and pharmacogenomics research investigates the genetic differences that may impact cancer etiology and drug response, respectively. Due in part to enthusiasm surrounding genomics as a new weapon to employ in the war on cancer, the public valuation of genomics has heavily weighed its successes, challenges, and failures in oncology (Shendure et al., 2019). In the midst of this genomics revolution, the racial gap in cancer mortality only slightly narrowed while socioeconomic inequalities in cancer death are widening most notably for preventable cancers like breast and colorectal cancers (Siegel et al., 2019). Leveraging genomics to eliminate such health disparities was among the many ambitious expectations for how deciphering the genetic code would transform prevention, diagnosis, and treatment of human disease. To date, catalyzing dramatic reductions in cancer disparities through genomic medicine remains beyond reach. Although a multitude of factors likely contribute to this failure, the disconcerting absence of research demonstrating the full role of genomics in reducing, exacerbating, or creating new health disparities is notable. This glaring lack of studies vital to promoting health equity perhaps seems less surprising in light of the controversy and lack of methodological consensus surrounding the study of genetic variation across diverse populations. Researchers across disciplines (eg, population genetics, social science, public health, etc.) disagree on the utility of population labels like race, ethnicity, or genetic ancestry in genomics research, especially given the potential risk of reifying biological underpinnings of racial categorization. Race, misappropriately equated with genetic ancestry, differentiates populations and mechanistically creates a hierarchy of ascribed societal value. Such designated societal worth preferentially confers a multitude of resources and opportunities on some over others, and this drives cancer inequities.
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影响因子：
254.7
作者：
Siegel, Rebecca L.;Miller, Kimberly D.;Jemal, Ahmedin
通讯作者：
Jemal, Ahmedin
不同的差异：在生物医学人类遗传学研究中使用“遗传血统”与种族。
影响因子：
3
作者：
Fujimura JH;Rajagopalan R
通讯作者：
Rajagopalan R
影响因子：
64.8
作者：
Popejoy, Alice B.;Fullerton, Stephanie M.
通讯作者：
Fullerton, Stephanie M.
DOI：
10.1007/s11568-011-9154-5
发表时间：
2011-12
期刊：
The HUGO journal
影响因子：
--
作者：
Ali-Khan, Sarah E;Krakowski, Tomasz;Tahir, Rabia;Daar, Abdallah S
通讯作者：
Daar, Abdallah S