德克萨斯州南部西班牙裔人群中癌症基因检测及意义未明变异的差异。
Disparities in Cancer Genetic Testing and Variants of Uncertain Significance in the Hispanic Population of South Texas.
机构信息
University of the Incarnate Word, San Antonio, TX.
Department of Pediatrics, UT Health San Antonio, San Antonio, TX.
出版信息
JCO Oncol Pract. 2022 May;18(5):e805-e813. doi: 10.1200/OP.22.00090.
PURPOSE
Racial and ethnic disparities have included a lack of access to both genetic testing and research, resulting in poor understanding of the genomic architecture in under-represented populations. The South Texas population is primarily of Hispanic background and has been largely devoid of genetic services. We extended access to this underserved population and uncovered genetic variants previously not observed, emphasizing the need to continually improve both genomic databases and clarification of variant significance to provide meaningful patient counseling.
METHODS
This study consisted of a retrospective cohort review of patients seen through a cancer genetics education and service program across 24 counties in South Texas. In total, 1,595 individuals were identified as appropriate for cancer genetic counseling and 1,377 completed genetic testing.
RESULTS
Eighty percent of those receiving genetic counseling self-identified as Hispanic, 16% as non-Hispanic White (NHW), 3% as African American, and 1% as other race/ethnicity. Of reported variants, 18.8% were pathogenic and 13.7% were reported as a variant of uncertain significance (VUS). VUS was reported in 17.2% of the Hispanic individuals compared with 9% NHW ( = .005).
CONCLUSION
Individuals of Hispanic ethnicity were significantly more likely to harbor a VUS compared with NHW. The extended reach into our regional communities revealed a gap in the ability to accurately interpret genomic variation with implications for advising patients on screening, prevention, and management strategies. A higher percentage of VUS also emphasizes the challenge of continued follow-up amid existing barriers that led to disparities in access. As understanding of the variants develops, hopefully gaps in knowledge of the genomic landscape will be lessened with increased clarity to provide accurate cancer risk assessment and recommendations for implementing prevention initiatives.
目的
种族和民族差异包括缺乏基因检测和研究机会，导致对代表性不足人群的基因组结构认识不足。南德克萨斯州的人口主要是西班牙裔背景，且在很大程度上缺乏基因服务。我们为这个服务不足的人群提供了机会，并发现了以前未观察到的遗传变异，这强调了需要不断改进基因组数据库，并阐明变异的意义，以提供有意义的患者咨询。
方法
这项研究是对在南德克萨斯州 24 个县开展的癌症遗传教育和服务计划中接受评估的患者进行的回顾性队列研究。总共有 1595 人被确定为适合癌症遗传咨询，其中 1377 人完成了基因检测。
结果
接受遗传咨询的人群中，80%自我认定为西班牙裔，16%为非西班牙裔白人（NHW），3%为非裔美国人，1%为其他种族/族裔。报告的变异中，18.8%为致病性，13.7%为意义不明的变异（VUS）。与 NHW 相比，17.2%的西班牙裔个体报告了 VUS，而 NHW 为 9%（=0.005）。
结论
与 NHW 相比，西班牙裔个体更有可能携带 VUS。向我们的地区社区延伸服务范围揭示了在准确解释基因组变异方面的能力差距，这对告知患者进行筛查、预防和管理策略具有重要意义。VUS 的比例也更高，强调了在存在障碍导致机会不均等的情况下，继续随访所面临的挑战。随着对变异的理解不断深入，希望通过增加清晰度来减少对基因组景观的认识差距，从而提供准确的癌症风险评估，并为实施预防措施提出建议。
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