With the broader introduction of genomic medicine in research and clinical care, an increasing number of persons are offered genetic testing. Many factors, including genetic literacy, may impact the utilization of genetic results by patients and their families. We developed a rapid, self-administered measure of genetic literacy, called Genetic Literacy Fast Test (GeneLiFT). We next evaluated the association of GeneLiFT scores with the comprehension of limitations of genomic medicine in participants undergoing genetic testing in the NIH-sponsored eMERGE III study at Columbia University Irving Medical Center, New York. All participants underwent genetic screening for variants in 74 actionable genes associated with adult-onset disorders. A diverse cohort of 724 participants completed the survey (60% women, 45% less than 40 years old, and 53% self-reported White non-Hispanic ancestry). The GeneLiFT was validated using known group differences based on education, health literacy, and numeracy, and with questions assessing genetic knowledge. GeneLiFT identified multiple standard genetics terms, that is, jargon, not recognized by more than 50% of participants (including actionability and pathogenicity). Low genetic literacy, identified in 210 participants (29%), was significantly associated with poor understanding of the limitations of genetic testing (p-values < 10^–9). This association was independent of education, health literacy, and numeracy levels, highlighting the importance of directly measuring genetic literacy. Low genetic literacy was also associated with low satisfaction with the informed consent process. GeneLiFT is a practical tool for rapid assessment of genetic literacy in large studies or clinical care. GeneLiFT will allow future research to efficiently assess the role of genetic literacy on the clinical impact of genetic testing.

中文翻译：

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GeneLiFT：一种新颖的测试，有助于在接受基因测试的不同人群中快速筛查基因素养


随着基因组医学在研究和临床护理中的广泛应用，越来越多的人接受基因检测。许多因素，包括遗传素养，可能会影响患者及其家人对遗传结果的利用。我们开发了一种快速、自我管理的遗传素养测量方法，称为遗传素养快速测试 (GeneLiFT)。接下来，我们在纽约哥伦比亚大学欧文医学中心进行的 NIH 赞助的 eMERGE III 研究中，评估了接受基因检测的参与者的 GeneLiFT 评分与对基因组医学局限性的理解之间的关系。所有参与者都接受了与成人发病疾病相关的 74 个可操作基因变异的基因筛查。 724 名参与者组成的多元化群体完成了这项调查（60% 为女性，45% 小于 40 岁，53% 自我报告为非西班牙裔白人血统）。 GeneLiFT 使用基于教育、健康素养和算术的已知群体差异以及评估遗传知识的问题进行了验证。 GeneLiFT 确定了多个标准遗传学术语，即行话，但超过 50% 的参与者不认可（包括可操作性和致病性）。 210 名参与者 (29%) 的遗传素养较低与对基因检测局限性的了解不足显着相关 ( p值 < 10 ^–9 )。该关联独立于教育、健康素养和算术水平，强调了直接测量遗传素养的重要性。遗传素养低也与知情同意过程满意度低有关。 GeneLiFT 是大型研究或临床护理中快速评估遗传素养的实用工具。 GeneLiFT 将使未来的研究能够有效评估基因素养对基因检测临床影响的作用。