Self-reported race and ethnicity of US biobank participants compared to the US Census
Self-reported race and ethnicity of US biobank participants compared to the US Census
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DOI：
10.1007/s12687-017-0308-6
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发表时间：
2017-07-01
影响因子：
1.9
通讯作者：
Williams, Janet K.
中科院分区：
文献类型：
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作者：
Cohn, Elizabeth Gross;Hamilton, Nalo;Williams, Janet K.
精准医学设想了一个基于对疾病遗传和环境决定因素的精确理解的有效诊断、治疗和预防的未来。鉴于最初的全基因组关联研究主要代表欧洲白人群体，并且基因组研究的多样性必须考虑种族类别内部和跨种族类别的遗传变异，因此新的研究存在代表性不足的风险。目前，美国各地的生物银行正在提供生物样本进行测序，但这些样本的多样性尚不清楚。本研究的目的是描述美国生物样本库使用的招募和登记材料的类型以及其收集中样本的多样性。对生物样本库网站和宣传册的阅读水平、健康素养以及已知鼓励少数族裔招募的因素（例如展示不同人群的照片）进行了评估。通过邮寄方式对生物样本库管理者进行了调查，内容涉及生物样本库参与者的登记、招募、同意以及自我报告的种族/民族所使用的方法和材料。美国 51 家生物样本库（回复率为 68%）的招聘和招生材料均为英文，大多数网站和宣传册都超过了五年级的阅读水平。与 2015 年美国人口普查相比，参与者自我报告的种族/民族对于白人 (61%) 和黑人 (13%) 没有显着差异。西班牙裔和拉丁裔的比例明显较低（18% vs. 7%，p = 0.00）以及夏威夷/太平洋岛民（0.2% vs. 0.01%；p = 0.01），而亚洲人的比例则较高（13% vs. 5%，p = 0.01）。招聘材料主要用英语可能会限制代表性不足的人群的参与。
Precision medicine envisions a future of effective diagnosis, treatment, and prevention grounded in precise understandings of the genetic and environmental determinants of disease. Given that the original genome-wide association studies represented a predominately European White population, and that diversity in genomic studies must account for genetic variation both within and across racial categories, new research studies are at a heightened risk for inadequate representation. Currently biological samples are being made available for sequencing in biobanks across the USA, but the diversity of those samples is unknown. The aims of this study were to describe the types of recruitment and enrollment materials used by US biobanks and the diversity of the samples contained within their collection. Biobank websites and brochures were evaluated for reading level, health literacy, and factors known to encourage the recruitment of minorities, such as showing pictures of diverse populations. Biobank managers were surveyed by mail on the methods and materials used for enrollment, recruitment, consent, and the self-reported race/ethnicity of biobank participants. From 51 US biobanks (68% response rate), recruitment and enrollment materials were in English only, and most of the websites and brochures exceeded a fifth-grade reading level. When compared to the 2015 US Census, self-reported race/ethnicity of participants was not significantly different for Whites (61%) and blacks (13%). The percentages were significantly lower for Hispanics and Latinos (18 vs. 7%, p = 0.00) and Hawaiian/Pacific Islanders (0.2 vs. 0.01%; p = 0.01) and higher for Asians (13 vs. 5%, p = 0.01). Materials for recruitment predominantly in English may limit participation by underrepresented populations.