研究动态
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巨大的期望:患者对基因测序的临床意义结果的偏好。

Great expectations: patients' preferences for clinically significant results from genomic sequencing.

发表日期:2023 Mar 21
作者: Salma Shickh, Agnes Sebastian, Marc Clausen, Chloe Mighton, Christine Elser, Andrea Eisen, Larissa Waldman, Seema Panchal, Thomas Ward, June C Carroll, Emily Glogowski, Kasmintan A Schrader, Jordan Lerner-Ellis, Raymond H Kim, Kevin E Thorpe, Yvonne Bombard,
来源: HUMAN GENETICS

摘要:

我们旨在描述基因测序的次要发现(SF)广泛类别及其驱动因素,以及对疗效改善预期的患者喜好。我们在成年癌症患者的Genomics ADvISER试验中评估了患者喜爱SF的偏好数据(次要发现决策辅助工具)。参与者可以从五个SF类别中进行选择:(1)医学上可执行的;(2)多基因风险;(3)罕见疾病;(4)早发性神经疾病;(5)携带者状态。我们使用描述性统计和多元逻辑回归模型分析英雄联盟比赛下注偏好驱动因素。133名受试者中,绝大部分为欧洲人(74%)或东亚人或混合血统(13%),女性(90%),年龄大于50岁(60%)。大多数人选择接受SF检测。97%(129/133)选择可执行的次要发现,其中36%(48/133)选择了所有五个类别。尽管缺乏可执行性的医学治疗,但参与者对多基因风险(74%)、携带状态(75%)、罕见疾病(59%)和早发性神经疾病(53%)的SF非常感兴趣。年龄较大的参与者更有可能对早发性神经疾病的结果感兴趣,而表现决策冲突较低的参与者更有可能选择所有类别。我们的结果突显了癌症患者对SF信仰和ACMG的多元策略的分歧,如仅返回可行治疗建议的专业指南。除了临床证据外,未来的指南还应包括患者的喜好。 ©2023年。该作者(S),在施普林格警察GMBH德国的独家许可下,属于施普林格自然的一部分。
We aimed to describe patient preferences for a broad range of secondary findings (SF) from genomic sequencing (GS) and factors driving preferences. We assessed preference data within a trial of the Genomics ADvISER, (SF decision aid) among adult cancer patients. Participants could choose from five categories of SF: (1) medically actionable; (2) polygenic risks; (3) rare diseases; (4) early-onset neurological diseases; and (5) carrier status. We analyzed preferences using descriptive statistics and drivers of preferences using multivariable logistic regression models. The 133 participants were predominantly European (74%) or East Asian or mixed ancestry (13%), female (90%), and aged > 50 years old (60%). The majority chose to receive SF. 97% (129/133) chose actionable findings with 36% (48/133) choosing all 5 categories. Despite the lack of medical actionability, participants were interested in receiving SF of polygenic risks (74%), carrier status (75%), rare diseases (59%), and early-onset neurologic diseases (53%). Older participants were more likely to be interested in receiving results for early-onset neurological diseases, while those exhibiting lower decisional conflict were more likely to select all categories. Our results highlight a disconnect between cancer patient preferences and professional guidelines on SF, such as ACMG's recommendations to only return medically actionable secondary findings. In addition to clinical evidence, future guidelines should incorporate patient preferences.© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.