Implementing genomic screening in diverse populations.
Implementing genomic screening in diverse populations.
复制标题
在不同人群中实施基因组筛查。
DOI：
10.1186/s13073-021-00832-y
复制
发表时间：
2021-02-05
期刊：
影响因子：
12.3
通讯作者：
Kenny EE
中科院分区：
文献类型：
--
作者：
Abul-Husn NS;Soper ER;Braganza GT;Rodriguez JE;Zeid N;Cullina S;Bobo D;Moscati A;Merkelson A;Loos RJF;Cho JH;Belbin GM;Suckiel SA;Kenny EE
基于人群的基因组筛查有望降低与医学上可采取行动的疾病相关的发病率和死亡率。然而，还需要进行大量研究来制定基因组筛查标准并了解人们对这种新测试方式的看法。对于在基因组医学研究中代表性严重不足的非欧洲血统人群来说尤其如此。因此，我们在纽约市的 BioMe 生物银行实施了一项试点基因组筛查计划，该计划的大多数参与者都是非欧洲血统。我们启动了与遗传性乳腺癌和卵巢癌综合征 (HBOC)、林奇综合征 (LS) 和家族性高胆固醇血症 (FH) 相关的已确定基因的基因组筛查。我们评估并纳入了与遗传性转甲状腺素蛋白淀粉样变性 (hATTR) 相关的额外基因 (TTR)，该基因在非洲血统人群中具有共同的创始人变异。我们评估了 74 名参与者的特征，他们收到了与这些情况相关的结果。我们还评估了 7461 名新注册 BioMe 参与者接收基因组结果的偏好。在试点基因组筛查计划中，74 名同意的参与者收到了与 HBOC (N = 26)、LS (N = 6)、FH (N = 8) 和 hATTR (N = 34) 相关的结果。收到与 hATTR 相关结果的 34 名参与者中，有 33 名 (97.1%) 是自我报告的非裔美国人/非洲人 (AA) 或西班牙裔/拉丁裔 (HL)，而收到与 HBOC、LS 或 FH 相关结果的 40 名参与者中，有 14 名 (35.0%)。 BioMe 协议修改后允许返回基因组结果，在 7461 名参与者中，93.4% 表示他们希望收到结果。年轻参与者、女性和 HL 参与者更有可能选择接受结果。将 TTR 添加到试点基因组筛查计划中意味着与美国基因组筛查计划中传统包含的基因相比，我们将结果返回给更高比例的 AA 和 HL 参与者。我们发现，多种族生物库的大多数参与者都对接收可采取医疗行动的疾病的基因组结果感兴趣。这些发现增加了对不同研究参与者对接收基因组结果的看法的了解，并为在代表性不足的患者群体中更广泛地实施基因组医学提供了信息。在线版本包含可在 10.1186/s13073-021-00832-y 获取的补充材料。
Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic screening and to understand the perspectives of people offered this new testing modality. This is particularly true for non-European ancestry populations who are vastly underrepresented in genomic medicine research. Therefore, we implemented a pilot genomic screening program in the BioMe Biobank in New York City, where the majority of participants are of non-European ancestry. We initiated genomic screening for well-established genes associated with hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH). We evaluated and included an additional gene (TTR) associated with hereditary transthyretin amyloidosis (hATTR), which has a common founder variant in African ancestry populations. We evaluated the characteristics of 74 participants who received results associated with these conditions. We also assessed the preferences of 7461 newly enrolled BioMe participants to receive genomic results. In the pilot genomic screening program, 74 consented participants received results related to HBOC (N = 26), LS (N = 6), FH (N = 8), and hATTR (N = 34). Thirty-three of 34 (97.1%) participants who received a result related to hATTR were self-reported African American/African (AA) or Hispanic/Latinx (HL), compared to 14 of 40 (35.0%) participants who received a result related to HBOC, LS, or FH. Among the 7461 participants enrolled after the BioMe protocol modification to allow the return of genomic results, 93.4% indicated that they would want to receive results. Younger participants, women, and HL participants were more likely to opt to receive results. The addition of TTR to a pilot genomic screening program meant that we returned results to a higher proportion of AA and HL participants, in comparison with genes traditionally included in genomic screening programs in the USA. We found that the majority of participants in a multi-ethnic biobank are interested in receiving genomic results for medically actionable conditions. These findings increase knowledge about the perspectives of diverse research participants on receiving genomic results and inform the broader implementation of genomic medicine in underrepresented patient populations. The online version contains supplementary material available at 10.1186/s13073-021-00832-y.
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DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
DOI：
10.1056/nejmsr1809937
发表时间：
2019-08-15
期刊：
The New England journal of medicine
影响因子：
--
作者：
All of Us Research Program Investigators;Denny JC;Rutter JL;Goldstein DB;Philippakis A;Smoller JW;Jenkins G;Dishman E
通讯作者：
Dishman E
影响因子：
120.7
作者：
Damrauer, Scott M.;Chaudhary, Kumardeep;Do, Ron
通讯作者：
Do, Ron
影响因子：
37.8
作者：
Gillmore, Julian D.;Maurer, Mathew S.;Hawkins, Philip N.
通讯作者：
Hawkins, Philip N.
影响因子：
1.7
作者：
Hamilton JG;Shuk E;Arniella G;González CJ;Gold GS;Gany F;Robson ME;Hay JL
通讯作者：
Hay JL