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是否有一种方法可以减少基于祖先的变异解释中的不平等?

Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?

机构信息

Department of Psychiatry, Columbia University Irving Medical Center, and New York State Psychiatric Institute, New York, NY 10032, USA.

Department of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA.

出版信息

Am J Hum Genet. 2022 Jun 2;109(6):981-988. doi: 10.1016/j.ajhg.2022.04.012.

Abstract

The underrepresentation of non-European ancestry groups in current genomic databases complicates interpretation of their genetic test results, yielding a much higher prevalence of variants of uncertain significance (VUSs). Such VUS findings can frustrate the goals of genetic testing, create anxiety in patients, and lead to unnecessary medical interventions. Approaches to addressing underrepresentation of people with genetic ancestries other than European are being undertaken by broad-based recruitment efforts. However, some underrepresented groups have concerns that might preclude participation in such efforts. We describe here two initiatives aimed at meeting the needs of underrepresented ancestry groups in genomic datasets. The two communities, the Sephardi Jewish community in New York and First Peoples of Canada, have very different concerns about contributing to genomic research and datasets. Sephardi concerns focus on the possible negative effects of genetic findings on the marriage prospects of family members. Canadian Indigenous populations seek control over the research uses to which their genetic data would be put. Both cases involve targeted efforts to respond to the groups' concerns; these efforts include governance models aimed at ensuring that the data are used primarily to inform clinical test analyses and at achieving successful engagement and participation of community members. We suggest that these initiatives could provide models for other ancestral groups seeking to improve the accuracy and utility of clinical genetic testing while respecting the underlying preferences and values of community members with regard to the use of their genetic data.

摘要

目前的基因组数据库中代表性不足的非欧洲血统群体,使得他们的基因检测结果的解读变得更加复杂,从而导致了更高比例的意义不明的变异(VUS)的出现。这种 VUS 的发现可能会阻碍基因检测的目标,给患者带来焦虑,并导致不必要的医疗干预。目前正在通过广泛的招募努力来解决代表性不足的问题。然而,一些代表性不足的群体可能会担心,从而阻碍他们参与这些努力。我们在这里描述了两个旨在满足基因组数据集中代表性不足的群体需求的倡议。这两个群体,即纽约的塞法迪犹太人社区和加拿大的第一民族,对于参与基因组研究和数据集有非常不同的担忧。塞法迪人的担忧集中在遗传发现可能对家庭成员的婚姻前景产生负面影响。加拿大的原住民则寻求对其遗传数据的研究用途的控制。这两种情况都涉及有针对性的努力来回应这些群体的担忧;这些努力包括旨在确保数据主要用于告知临床测试分析的治理模式,并实现社区成员的成功参与。我们建议,这些举措可以为其他寻求提高临床基因检测准确性和实用性的群体提供借鉴,同时尊重社区成员在使用其遗传数据方面的基本偏好和价值观。

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