Brar Shanjot, Townsend Jared, Phulka Joban, Halperin Laura, Liew Janet, Parker Jeremy, Brunham Liam R, Laksman Zachary
Department of Medicine, University of British Columbia, Vancouver, Canada.
Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, Canada.
Eur J Hum Genet. 2025 Apr;33(4):531-537. doi: 10.1038/s41431-024-01762-0. Epub 2024 Dec 7.
The goal of this study was to assess patients' prior exposure and current level of knowledge of polygenic risk scores (PRSs). We also explored reactions to receiving a high-risk or low-risk score, and gauged the overall attitudes and demand patients have with regards to PRSs. We developed an online investigator-designed survey based on existing validated tools in genetic testing. There were two versions of the survey, one including a hypothetical high-risk PRS and one with a low-risk PRS. This survey was distributed to patients attending a cardiovascular clinic for primary or secondary prevention. A total of 226 participants responded to the survey. 177 patients (79%) had not read nor heard about polygenic testing. 209 patients (93%) had never discussed polygenic testing with their health care professional (HCP). 208 patients (93%) had never received polygenic testing. The average score on the knowledge quiz was 2.47/10 [95% C.I. (2.17, 2.78)]. Participants that received a high-risk survey scored 20.52/35 [95% C.I. (16.14, 24.9)] with regards to negative emotions while low-risk survey participants scored 17.96/35 [95% C.I. (13.98, 21.94)] (p < 0.001). Participants that received a high-risk survey scored 12.42/15 [95% C.I. (10.43, 14.41)] for demand and low-risk survey participants scored 12.22/15 [95% C.I. (9.66, 14.78)] (p = 0.549). Patients have limited prior exposure and knowledge of PRSs. Compared to receiving a low-risk score, participants receiving a high-risk score have more negative emotions and feelings of uncertainty. Despite the lack of knowledge, and the high rate of negative emotions and uncertainty, demand for PRSs in cardiology practice is high.
本研究的目的是评估患者既往对多基因风险评分(PRSs)的接触情况及当前的知识水平。我们还探讨了患者在收到高风险或低风险评分后的反应,并衡量了患者对PRSs的总体态度和需求。我们基于基因检测中现有的经过验证的工具开发了一项在线研究者设计的调查。该调查有两个版本,一个包含假设的高风险PRS,另一个包含低风险PRS。此调查分发给了在心血管诊所接受一级或二级预防的患者。共有226名参与者回复了该调查。177名患者(79%)未曾阅读过也未听说过多基因检测。209名患者(93%)从未与他们的医疗保健专业人员(HCP)讨论过多基因检测。208名患者(93%)从未接受过多基因检测。知识测验的平均得分为2.47/10 [95%置信区间(2.17, 2.78)]。收到高风险调查的参与者在负面情绪方面的得分为20.52/35 [95%置信区间(16.14, 24.9)],而收到低风险调查的参与者得分为17.96/35 [95%置信区间(13.98, 21.94)](p < 0.001)。收到高风险调查的参与者在需求方面的得分为12.42/15 [95%置信区间(10.43, 14.41)],收到低风险调查的参与者得分为12.22/15 [95%置信区间(9.66, 14.78)](p = 0.549)。患者既往对PRSs的接触和了解有限。与收到低风险评分相比,收到高风险评分的参与者有更多的负面情绪和不确定感。尽管知识匮乏,且负面情绪和不确定感发生率较高,但心脏病学实践中对PRSs的需求仍然很高。