Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening
Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening
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DOI：
10.1186/s12863-017-0570-y
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发表时间：
2017-11-28
期刊：
影响因子：
2.9
通讯作者：
Puig, Oscar
中科院分区：
文献类型：
--
作者：
Shraga, Roman;Yarnall, Sarah;Puig, Oscar
背景：目前的专业协会指南建议在种族的基础上提供遗传携带者筛查，或者当使用扩展的携带者筛查面板时，他们建议计算残差！基于种族的风险。我们调查了9138名受试者中自我报告种族的可靠性，涉及到携带者筛查。从测试申请表和测试后遗传咨询中收集的自我报告的种族，以及通过统计模型预测的遗传祖先，进行一致性比较。结果：我们确定了自我报告的种族和遗传血统的两个来源之间的几个差异。只有30.3%的人在咨询期间表示地中海血统的人在申请表上自我报告了这一点。此外，报告东南亚但估计有不同遗传祖先的个体比例取决于自我报告的来源。最后，报告拉丁美洲的个体表现出高度的祖先混合。因此，如果使用自我报告的种族，为患者决策提供的携带率和剩余风险受到影响。结论：我们的分析强调了基于患者自我报告的种族分类的不可靠性。我们建议在生殖医学中常规使用泛民族携带者筛查小组。此外，使用祖先模型可以更好地估计携带率和剩余风险。
Background: Current professional society guidelines recommend genetic carrier screening be offered on the basis of ethnicity, or when using expanded carrier screening panels, they recommend to compute residua ! risk based on ethnicity. We investigated the reliability of self-reported ethnicity in 9138 subjects referred to carrier screening. Self-reported ethnicity gathered from test requisition forms and during post-test genetic counseling, and genetic ancestry predicted by a statistical model, were compared for concordance.Results: We identified several discrepancies between the two sources of self-reported ethnicity and genetic ancestry. Only 30.3% of individuals who indicated Mediterranean ancestry during consultation self-reported this on requisition forms. Additionally, the proportion of individuals who reported Southeast Asian but were estimated to have a different genetic ancestry was found to depend on the source of self-report. Finally, individuals who reported Latin American demonstrated a high degree of ancestral admixture. As a result, carrier rates and residual risks provided for patient decision-making are impacted if using self-reported ethnicity.Conclusion: Our analysis highlights the unreliability of ethnicity classification based on patient self-reports. We recommend the routine use of pan-ethnic carrier screening panels in reproductive medicine. Furthermore, the use of an ancestry model would allow better estimation of carrier rates and residual risks.