致力于遗传性癌症遗传咨询研究的行动呼吁:基于证据的指导方针发展过程中的考虑因素
Brooke Levin1, Erin Salo-Mullen2, Julie O Culver3
1MD Anderson Cancer Center at Cooper, Cooper University Hospital, Camden, New Jersey, USA.
Journal of genetic counseling
|April 30, 2025
概括
需要未来的研究,以建立基于证据的指导方针,为遗传性癌症遗传咨询结果. 研究应侧重于医疗服务,多样化的人口和患者报告的结果,以改善护理.
科学领域:
- 医疗保健服务研究 医疗服务研究
- 基因咨询 基因咨询
- 在瘤学瘤学.
背景情况:
- 国家遗传咨询师协会 (NSGC) 旨在为遗传性癌症遗传咨询结果创建基于证据的指导方针.
- 为此,我们采用了推评估,开发和评价 (GRADE) 的分级方法.
研究的目的:
- 确定阻碍开发基于证据的基因咨询指南遗传性癌症的关键研究差距.
- 发出对未来研究的行动呼吁,强调与卫生服务相关的结果和多样化的人口.
主要方法:
- 文献审查以确定遗传咨询结果中的证据差距.
- 应用GRADE方法原则来评估结果的重要性.
- 确定未来研究的主要研究重点.
主要成果:
- 对于许多重要的遗传咨询结果,高质量的研究存在显著的差距.
- 现有的文献往往无法区分遗传咨询与遗传检测结果.
- 有限的数据可用于医疗服务结果,多样化的人口和患者报告的措施.
结论:
- 在为遗传性癌症遗传咨询制定全面的基于证据的指导方针之前,进一步的研究是必不可少的.
- 优先事项包括研究区分咨询与测试,评估前/后测试咨询,以及评估服务不足社区的结果.
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