Background: 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. Methods: 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 7,461 newly enrolled BioMe participants to receive genomic results. 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/African American (AA) or Hispanic/Latinx (HL), compared to 14 of 40 (35.0%) participants who received a result related to HBOC, LS, or FH. Among 7,461 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. Conclusions: 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 U.S. 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.

中文翻译：

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在不同人群中进行基因组筛选

背景：基于人群的基因组筛选具有降低与医学上可治疗的疾病相关的发病率和死亡率的预期能力。但是，需要大量研究来开发基因组筛选标准，并了解人们提供这种新测试方法的观点。对于在基因组医学研究中代表性不足的非欧洲血统人群而言，尤其如此。因此，我们在Bio Me中实施了基因组筛选试验计划位于纽约市的生物银行，大多数参与者来自非欧洲血统。方法：我们启动了基因组筛查，以建立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）相关的基因。我们评估并纳入了与遗传性甲状腺素转运蛋白淀粉样变性病（hATTR）相关的其他基因（TTR），该基因在非洲血统人群中具有常见的创始人变异。我们评估了74位参与者的特征，这些参与者收到了与这些条件相关的结果。我们还评估了7,461名新注册的Bio Me的偏好参加者可获得基因组结果。结果：在试点基因组筛选程序中，有74名同意参加的参与者收到了与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％）是自我报告的非洲/非裔美国人（AA）或西班牙裔/拉丁裔（HL），而收到结果的40名参与者中有14名（35.0％）与HBOC，LS或FH相关。在修改Bio Me方案以允许返回基因组结果后登记的7,461名参与者中，有93.4％的参与者表示他们希望接收结果。年轻的参与者，女性和HL参与者更有可能选择接受结果。结论：TTR的增加与美国传统上包括在基因组筛查计划中的基因相比，对基因组筛查计划进行试验意味着我们将结果返回给更高比例的AA和HL参与者。我们发现，多种族生物库中的大多数参与者都对在医学上可行的条件下获得基因组结果。这些发现增加了有关接受基因组结果的不同研究参与者观点的知识，并为基因组医学在代表性不足的患者人群中的更广泛实施提供了信息。