在eMERGE研究中,医疗保健专业人员的经验回报了单基因,多基因和综合风险的结果
Sabrina A Suckiel1, Laura Golfinopoulos2, Courtney L Scherr3
1Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
HGG advances
|December 7, 2025
概括
医疗保健提供者发现披露多基因风险评分 (PRS) 和综合风险评分 (IRS) 是复杂的. 关键的挑战包括确保患者理解和澄清这些基因组风险评估的临床含义.
科学领域:
- 基因组学就是基因组学.
- 临床遗传学 临床遗传学
- 医疗保健服务研究 医疗服务研究
背景情况:
- 多基因风险评分 (PRS) 和综合风险评分 (IRS) 的临床实用性正在增加.
- 有限的数据存在于医疗保健提供者向患者披露基因组风险结果的经验.
- eMERGE IV研究为评估提供者对基因组信息风险评估的经验提供了机会.
研究的目的:
- 检查医疗保健提供者的经验,揭示eMERGE IV研究中的基因组风险结果 (PRS,IRS,单基因发现).
- 在传达复杂的基因组风险信息时识别挑战和考虑因素.
- 为未来的培训和基因组风险评分的临床整合提供信息.
主要方法:
- 对参与披露高风险结果的医疗保健提供者进行了横截面调查.
- 该调查包括关闭式和开放式问题,评估披露经验.
- 21名提供者,主要是遗传咨询师,参与了调查.
主要成果:
- 对披露高风险结果的信心有所不同:单一的 (92%),PRS (78%) 和IRS (69%).
- 披露被认为是复杂的,特别是PRS (89%) 和IRS (69%).
- 乳腺癌和肥胖是披露最具挑战性的条件;患者的理解和护理建议是关键挑战.
结论:
- 提供者在沟通PRS和IRS方面面临挑战,强调需要明确解释临床意义,风险和局限性.
- 确保患者理解并解决关于护理建议的困惑至关重要.
- 研究结果强调需要有针对性的培训和资源,以支持基因组风险评分的临床整合.
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