实施地图,以确定实施全人口基因组查计划的最佳实践:FOCUS (促进全人口基因组查的实施) 研究的议定书
Megan Roberts1, Jarrod Marable2, Kimberly Foss1
1University of North Carolina Hospitals, Chapel Hill, NC, United States.
JMIR research protocols
|October 8, 2025
概括
全人口基因组查 (PGS) 可以降低人口的1-2%的疾病风险. 焦点项目开发了一个工具包,以改善公平获取和实施这些重要的基因组查计划.
科学领域:
- 基因组医学是基因组医学.
- 实施科学 实施科学
- 健康 公平 卫生 公平
背景情况:
- 全人口基因组查 (PGS) 具有显著的潜力,可以减少乳腺癌,林奇综合征和家族性高胆固醇血症等遗传性疾病的发病率和死亡率.
- 由于测序成本下降和支持性的国家指南,美国越来越多地出现了PGS计划.
- 公平获得PGS仍然是一个挑战,因为组织因素往往阻碍了代表性不足的人群的利益.
研究的目的:
- 检查影响多种卫生系统 PGS 实施的障碍和促进因素.
- 在FOCUS工具包中开发和包装实施策略,并纳入专家和咨询小组的投入.
- 评估FOCUS工具包在提高PGS计划的覆盖范围,采用和维护方面的有效性.
主要方法:
- 采用"实施研究综合框架" (CFIR) 和"覆盖范围,有效性,采用,实施和维护" (RE-AIM) 框架指导的实施映射,与健康公平原则相结合.
- 参与10个设计站点用于障碍/促进者识别和12个测试站点用于工具包评估.
- 确保所有地点代表实施的不同阶段:勘探,规划,实施和维持.
主要成果:
- 该FOCUS项目由国家人类基因组研究所 (R01HG013851-01) 资助,持续至2024年9月至2029年6月.
- 目标1的定性数据收集,包括对实施团队,患者和供应商的采访,始于2024年1月.
- 截至报告时,已经采访了33名实施团队成员,8名患者和2名实验室供应商,目前正在进行定性分析.
结论:
- 即将发布的FOCUS工具包旨在标准化PGS程序的扩展.
- 该倡议旨在确保基因组查的好处在各种人群和医疗保健机构中均可获得.
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