Stubbs Doug, Hooker Gillian W, Li Yajing, Richter Lucas, Bick Alexander
Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN.
Concert Genetics, Nashville, TN.
Genet Med Open. 2023 Jun 1;1(1):100822. doi: 10.1016/j.gimo.2023.100822. eCollection 2023.
As polygenic risk scores (PRSs) enter clinical practice, health care providers' and the publics' comprehension of PRS results are of great importance; yet, they are poorly understood. We present the Vanderbilt polygenic risk scores knowledge scale (Vanderbilt PRS-KS), a tool to quantify PRS knowledge.
The Vanderbilt PRS-KS was developed by a team of genetic counselors and physicians to cover key conceptual facts pertaining to PRSs. We recruited ( = 500) individuals with demographics representative of a U.S. sample and graduate-level health care students ( = 74) at a large academic medical center to participate in this validation study. We evaluated the Vanderbilt PRS-KS's psychometric properties using confirmatory factor analysis and item response theory.
The 7-item Vanderbilt PRS-KS correlated to a single latent construct on confirmatory factor analysis (Λ = 0.31-0.61). The scale showed promising reliability (Cronbach's α = 0.66) with item response theory summed scores of ≥2 to ≤5, demonstrating reliability >0.70. The Vanderbilt PRS-KS significantly correlated with genetic knowledge and applied PRS knowledge (r = 0.55 and r = 0.29), and graduate-level health care students scored significantly higher compared with the U.S. representative sample ( < .01).
The Vanderbilt PRS-KS is a rigorously validated measure to quantify PRS knowledge. Clinicians should tailor future PRS knowledge interventions to the identified knowledge gaps, including PRS inheritance, equity of performance in different ethnicities, and integration with other health determinants.
随着多基因风险评分（PRSs）进入临床实践，医疗保健提供者和公众对PRS结果的理解至关重要；然而，人们对其了解甚少。我们提出了范德比尔特多基因风险评分知识量表（Vanderbilt PRS-KS），这是一种量化PRS知识的工具。
范德比尔特PRS-KS由一组遗传咨询师和医生开发，涵盖与PRSs相关的关键概念性事实。我们招募了500名具有美国样本代表性人口统计学特征的个体以及一所大型学术医疗中心的74名研究生水平的医疗保健专业学生参与这项验证研究。我们使用验证性因子分析和项目反应理论评估了范德比尔特PRS-KS的心理测量特性。
在验证性因子分析中，7项范德比尔特PRS-KS与单一潜在结构相关（Λ = 0.31 - 0.61）。该量表显示出良好的信度（克朗巴哈α系数 = 0.66），项目反应理论总分在≥2至≤5之间，表明信度>0.70。范德比尔特PRS-KS与遗传知识和应用PRS知识显著相关（r = 0.55和r = 0.29），并且研究生水平的医疗保健专业学生的得分显著高于美国代表性样本（P <.01）。
范德比尔特PRS-KS是一种经过严格验证的量化PRS知识的测量工具。临床医生应根据已确定的知识差距调整未来的PRS知识干预措施，包括PRS遗传、不同种族表现的公平性以及与其他健康决定因素的整合。
