Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq(®) cohort.
Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq(®) cohort.
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DOI：
10.1038/s41436-018-0341-9
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发表时间：
2019-06
期刊：
影响因子：
--
通讯作者：
Biesecker LG
中科院分区：
文献类型：
--
作者：
Lewis KL;Heidlebaugh AR;Epps S;Han PKJ;Fishler KP;Klein WMP;Miller IM;Ng D;Hepler C;Biesecker BB;Biesecker LG
少数族裔人口在基因组学研究中的代表性不足。这项研究招募了非洲人后裔参加测序研究，并报告了他们的特征。我们特意招募了467名自认为是非洲人、非裔美国人或非洲加勒比人的人参加ClinSeq®研究，并对他们的知识、动机、期望和特征进行了调查。汇总的统计数据被计算出来，并与研究的原始队列中的数据进行了比较，原始队列主要是怀特和自我参考的。招聘花了五年时间，83%的参与者完成了调查。参与者对测序的好处和局限性了解不多(S=5.1，范围0-10)，并且低于原始队列(分别为7.5和7.7)。注册的常见动机是学习与个人健康(49%)或家庭成员健康(33%)相关的信息，大多数人对排序有现实的期望。像最初的那群人一样，他们具有高度的乐观、开放和韧性。早期采用者可能具有相对一致的人格特征，无论多数/少数地位和招募方法如何，但高水平的基因组学知识并不是普遍存在的。研究应确定招募和同意程序是否提供了足够的教育，以促进知情选择和现实期望，这对伦理研究和在代表性不足的社区增加基因组研究的参与至关重要。
Racial minority populations are underrepresented in genomics research. This study enrolled African-descended individuals in a sequencing study and reported their characteristics. We purposively recruited 467 individuals self-identified as African, African American, or Afro-Caribbean to the ClinSeq® study and surveyed them about knowledge, motivations, expectations, and traits. Summary statistics were calculated and compared to data from the study’s original cohort, which was primarily White and self-referred. Recruitment took five years and 83% of enrollees completed the survey. Participants had modest knowledge about benefits and limitations of sequencing (s = 5.1, ranges: 0–10), and less than the original cohort ( = 7.5 and 7.7, respectively). Common motivations to enroll were learning information relevant to personal health (49%) or family members’ health (33%), and most had realistic expectations of sequencing. Like the original cohort, they had high levels of optimism, openness, and resilience. Early adopters may have relatively consistent personality traits irrespective of majority/minority status and recruitment methods, but high levels of genomics knowledge are not universal. Research should determine whether recruitment and consent procedures provide adequate education to promote informed choices and realistic expectations, which are vital to ethical research and increasing genomics research participation in underrepresented communities.
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影响因子：
3.6
作者：
Waters, Erika A.;Hay, Jennifer L.;Drake, Bettina F.
通讯作者：
Drake, Bettina F.
影响因子：
3.7
作者：
Lewis KL;Han PK;Hooker GW;Klein WM;Biesecker LG;Biesecker BB
通讯作者：
Biesecker BB
影响因子：
1.9
作者：
Schmidlen, Tara J.;Scheinfeldt, Laura;Christman, Michael F.
通讯作者：
Christman, Michael F.
影响因子：
7
作者：
Biesecker, Leslie G.;Mullikin, James C.;Green, Eric D.
通讯作者：
Green, Eric D.
DOI：
10.1038/ejhg.2015.118
发表时间：
2016-01
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
Sanderson SC;Linderman MD;Suckiel SA;Diaz GA;Zinberg RE;Ferryman K;Wasserstein M;Kasarskis A;Schadt EE
通讯作者：
Schadt EE