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美国DNA库使用情况中的人口统计学和社会经济趋势。

Demographic and socioeconomic trends in DNA banking utilization in the USA.

作者信息

Prudent Joshua, Lopez Esthermarie, Dorshorst Donna, Cox Hannah C, Bodurtha Joann N

机构信息

Department of Genetic Medicine, Johns Hopkins School of Medicine, 600 N. Wolfe St., Blalock 1012, Baltimore, MD, 21287, USA.

Ponce Health Sciences University, 388 Zona Industrial Reparada 2, Ponce, PR, 00716, Puerto Rico.

出版信息

J Community Genet. 2021 Oct;12(4):593-602. doi: 10.1007/s12687-021-00533-4. Epub 2021 Jun 29.

Abstract

Demographic and clinical information from de-identified individuals utilizing a single DNA banking service over a 22-year period was assessed using descriptive statistics. The socioeconomic characteristics of the study population were estimated using a zip code-level analysis of US Census data and compared to national US Metrics for 2016. Samples from 4,874 individuals were deposited to a single commercial DNA bank from 1997 to 2019. Samples originated from 31 countries across 6 continents, with the majority of samples originating from the United States (US; 97.37%; n = 4,746). A higher proportion of individuals identifying as females (55.58%; n = 2,709) utilized the service compared to males (41.18%; n = 2,007). The age distribution was bimodal, peaking around 5 years of age and again around 65 years of age. Whole blood was the preferred specimen for submission. Sample deposits peaked in 2015 with 559 annual deposits. Clinical genetic counselors were the most common referral source (41.73%; n = 2,034). Individuals utilizing DNA banking services are estimated to reside in wealthier, more educated and less racially diverse zip codes compared to national metrics. Although direct to consumer DNA banking is being utilized by the general public and clinical genetic counselors in the US, it is not widespread.

摘要

利用描述性统计方法评估了22年间使用单一DNA库服务的身份不明个体的人口统计学和临床信息。通过对美国人口普查数据进行邮政编码级别的分析来估计研究人群的社会经济特征,并与2016年美国全国指标进行比较。1997年至2019年期间,来自4874人的样本被存入一家商业DNA库。样本来自六大洲的31个国家,其中大多数样本来自美国(97.37%;n = 4746)。与男性(41.18%;n = 2007)相比,使用该服务的女性比例更高(55.58%;n = 2709)。年龄分布呈双峰状,在5岁左右和65岁左右达到峰值。全血是提交的首选样本。样本存入量在2015年达到峰值,当年有559次年度存入。临床遗传咨询师是最常见的转诊来源(41.73%;n = 2034)。与全国指标相比,使用DNA库服务的个体估计居住在更富裕、受教育程度更高且种族多样性更低的邮政编码地区。尽管美国的普通公众和临床遗传咨询师都在使用直接面向消费者的DNA库服务,但该服务并不普遍。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/641e/8554957/e07cbab8e207/12687_2021_533_Fig1_HTML.jpg

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